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42523240 | 10.64898/2026.07.10.737576 | A cargo receptor entrapment complex is a therapeutic node for genetically and clinically distinct proteinopathies | Severe proteinopathies-such as retinitis pigmentosa, a form of inherited blindness-are driven by genetic mutations that overwhelm the quality control of the post-endoplasmic reticulum (post-ER) secretory pathway, causing toxic protein accumulation. Here, we identify a therapeutic node defined by a hetero-oligomeric car... | bioRxiv | bioRxiv : the preprint server for biology | 2026 Jul 13 | 2,026 | [
"Khursigara MR",
"Goss AC",
"Kost-Alimova M",
"Keller K",
"De Mata CD",
"Muraleedharan R",
"Collantes ER",
"Brown M",
"Grinkevich E",
"Arines FM",
"Lin J",
"Byrne P",
"Valenti SB",
"Morici E",
"Roignot J",
"Zavras J",
"Silverman BR",
"Ignacio JC",
"Myung Y",
"Kwon S",
"Nelson... | Khursigara MR | Greka A | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC13404660; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/42523240/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
41986721 | 10.1038/s41586-026-10358-1 | Ancient DNA reveals pervasive directional selection across West Eurasia | Ancient DNA has transformed our understanding of population history1, but its potential to reveal as much about human evolutionary biology has not been realized because of limited sample sizes and the difficulty of distinguishing sustained rises in allele frequency increasing fitness-directional selection-from shifts d... | Nature | Nature | 2026 Jun | 2,026 | [
"Akbari A",
"Perry A",
"Barton AR",
"Kariminejad M",
"Gazal S",
"Li Z",
"Zeng Y",
"Mittnik A",
"Patterson N",
"Mah M",
"Zhou X",
"Price AL",
"Lander ES",
"Pinhasi R",
"Rohland N",
"Mallick S",
"Reich D"
] | Akbari A | Reich D | [
"Humans",
"Alleles",
"Asia",
"DNA, Ancient",
"Europe",
"Evolution, Molecular",
"Gene Frequency",
"History, Ancient",
"Phenotype",
"Selection, Genetic"
] | [
"Journal Article"
] | 654 | 8118 | 419-428 | pmc-id: PMC13189228;manuscript-id: NIHMS2168269; | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/41986721/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
41741648 | 10.1038/s41586-026-10121-6 | Functional dissection of complex trait variants at single-nucleotide resolution | Identifying the causal variants and mechanisms that drive complex traits and diseases remains a core problem in human genetics1-5. Most of these variants individually have weak effects6 and lie in non-coding gene-regulatory elements7-10, for which we lack a complete understanding of how single-nucleotide alterations mo... | Nature | Nature | 2026 Feb 25 | 2,026 | [
"Siraj L",
"Castro RI",
"Dewey HB",
"Kales S",
"Butts JC",
"Nguyen TTL",
"Kanai M",
"Berenzy D",
"Mouri K",
"Wang QS",
"Fiziev PP",
"Tsuo K",
"McCaw ZR",
"Gosai SJ",
"Aguet F",
"Cui R",
"Kassam I",
"McRae J",
"Vockley CM",
"Lareau CA",
"Abramov S",
"Boystov A",
"Vierstra ... | Siraj L | Tewhey R | [] | [
"Journal Article"
] | null | null | null | null | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/41741648/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
40833404 | 10.1073/pnas.2509860122 | Efficiently quantifying dependence in massive scientific datasets using InterDependence Scores | Large-scale scientific datasets today contain tens of thousands of random variables across millions of samples (for example, the RNA expression levels of 20,000 protein-coding genes across 30 million single cells). Being able to quantify dependencies between these variables would help us discover novel relationships be... | Proc Natl Acad Sci U S A | Proceedings of the National Academy of Sciences of the United States of America | 2025 Aug 26 | 2,025 | [
"Radhakrishnan A",
"Jain Y",
"Uhler C",
"Lander ES"
] | Radhakrishnan A | Lander ES | [
"Algorithms",
"Humans",
"Computational Biology"
] | [
"Journal Article"
] | 122 | 34 | e2509860122 | pmc-id: PMC12403096; | 0027-8424 | eng | https://pubmed.ncbi.nlm.nih.gov/40833404/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
40245860 | 10.1016/j.cell.2025.03.034 | Rewriting regulatory DNA to dissect and reprogram gene expression | Regulatory DNA provides a platform for transcription factor binding to encode cell-type-specific patterns of gene expression. However, the effects and programmability of regulatory DNA sequences remain difficult to map or predict. Here, we develop variant effects from flow-sorting experiments with CRISPR targeting scre... | Cell | Cell | 2025 Jun 12 | 2,025 | [
"Martyn GE",
"Montgomery MT",
"Jones H",
"Guo K",
"Doughty BR",
"Linder J",
"Bisht D",
"Xia F",
"Cai XS",
"Chen Z",
"Cochran K",
"Lawrence KA",
"Munson G",
"Pampari A",
"Fulco CP",
"Sahni N",
"Kelley DR",
"Lander ES",
"Kundaje A",
"Engreitz JM"
] | Martyn GE | Engreitz JM | [
"Humans",
"Gene Editing",
"CRISPR-Cas Systems",
"DNA",
"Transcription Factors",
"Regulatory Sequences, Nucleic Acid",
"Gene Expression Regulation",
"Binding Sites",
"Animals",
"Mice",
"HEK293 Cells",
"Clustered Regularly Interspaced Short Palindromic Repeats"
] | [
"Journal Article"
] | 188 | 12 | 3349-3366.e23 | pmc-id: PMC12167154;manuscript-id: NIHMS2068679; | 0092-8674 | eng | https://pubmed.ncbi.nlm.nih.gov/40245860/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
40179192 | 10.1126/science.ads7951 | Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes | Most phenotype-associated genetic variants map to noncoding regulatory regions of the human genome, but their mechanisms remain elusive in most cases. We developed a highly efficient strategy, Perturb-multiome, to simultaneously profile chromatin accessibility and gene expression in single cells with CRISPR-mediated pe... | Science | Science (New York, N.Y.) | 2025 Apr 4 | 2,025 | [
"Martin-Rufino JD",
"Caulier A",
"Lee S",
"Castano N",
"King E",
"Joubran S",
"Jones M",
"Goldman SR",
"Arora UP",
"Wahlster L",
"Lander ES",
"Sankaran VG"
] | Martin-Rufino JD | Sankaran VG | [
"Humans",
"Transcription Factors",
"Gene Regulatory Networks",
"Chromatin",
"Phenotype",
"Single-Cell Analysis",
"CRISPR-Cas Systems",
"Genome, Human",
"Genetic Variation",
"Blood Cells",
"Cell Differentiation",
"Erythropoiesis",
"Erythroid Cells"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 388 | 6742 | 52-59 | pmc-id: PMC12168499;manuscript-id: NIHMS2076308; | 0036-8075 | eng | https://pubmed.ncbi.nlm.nih.gov/40179192/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
39349822 | 10.1038/s41568-024-00742-2 | A standing platform for cancer drug development using ctDNA-based evidence of recurrence | The time required to conduct clinical trials limits the rate at which we can evaluate and deliver new treatment options to patients with cancer. New approaches to increase trial efficiency while maintaining rigor would benefit patients, especially in oncology, in which adjuvant trials hold promise for intercepting meta... | Nat Rev Cancer | Nature reviews. Cancer | 2024 Nov | 2,024 | [
"Medford AJ",
"Carmeli AB",
"Ritchie A",
"Wagle N",
"Garraway L",
"Lander ES",
"Parikh A"
] | Medford AJ | Parikh A | [
"Humans",
"Circulating Tumor DNA",
"Neoplasms",
"Neoplasm Recurrence, Local",
"Biomarkers, Tumor",
"Drug Development",
"Antineoplastic Agents",
"Clinical Trials as Topic"
] | [
"Journal Article",
"Review"
] | 24 | 11 | 810-821 | null | 1474-175X | eng | https://pubmed.ncbi.nlm.nih.gov/39349822/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
39314480 | 10.1101/2024.09.14.613021 | Pervasive findings of directional selection realize the promise of ancient DNA to elucidate human adaptation | We present a method for detecting evidence of natural selection in ancient DNA time-series data that leverages an opportunity not utilized in previous scans: testing for a consistent trend in allele frequency change over time. By applying this to 8433 West Eurasians who lived over the past 14000 years and 6510 contempo... | bioRxiv | bioRxiv : the preprint server for biology | 2024 Sep 15 | 2,024 | [
"Akbari A",
"Barton AR",
"Gazal S",
"Li Z",
"Kariminejad M",
"Perry A",
"Zeng Y",
"Mittnik A",
"Patterson N",
"Mah M",
"Zhou X",
"Price AL",
"Lander ES",
"Pinhasi R",
"Rohland N",
"Mallick S",
"Reich D"
] | Akbari A | Reich D | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC11419161; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/39314480/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
39314298 | 10.1101/2024.09.09.611392 | Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes | Most phenotype-associated genetic variants map to non-coding regulatory regions of the human genome. Moreover, variants associated with blood cell phenotypes are enriched in regulatory regions active during hematopoiesis. To systematically explore the nature of these regions, we developed a highly efficient strategy, P... | bioRxiv | bioRxiv : the preprint server for biology | 2024 Sep 9 | 2,024 | [
"Martin-Rufino JD",
"Caulier A",
"Lee S",
"Castano N",
"King E",
"Joubran S",
"Jones M",
"Goldman SR",
"Arora UP",
"Wahlster L",
"Lander ES",
"Sankaran VG"
] | Martin-Rufino JD | Sankaran VG | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC11419094; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/39314298/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
39026740 | 10.1101/2024.07.12.603288 | Cohesin-mediated 3D contacts tune enhancer-promoter regulation | Enhancers are key drivers of gene regulation thought to act via 3D physical interactions with the promoters of their target genes. However, genome-wide depletions of architectural proteins such as cohesin result in only limited changes in gene expression, despite a loss of contact domains and loops. Consequently, the r... | bioRxiv | bioRxiv : the preprint server for biology | 2024 Jul 22 | 2,024 | [
"Guckelberger P",
"Doughty BR",
"Munson G",
"Rao SSP",
"Tan Y",
"Cai XS",
"Fulco CP",
"Nasser J",
"Mualim KS",
"Bergman DT",
"Ray J",
"Jagoda E",
"Munger CJ",
"Gschwind AR",
"Sheth MU",
"Tan AS",
"Pulido SG",
"Mitra N",
"Weisz D",
"Shamim MS",
"Durand NC",
"Mahajan R",
"K... | Guckelberger P | Engreitz JM | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC11257546; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/39026740/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
38996487 | 10.1016/j.cell.2024.06.002 | Three-dimensional genome architecture persists in a 52,000-year-old woolly mammoth skin sample | Analyses of ancient DNA typically involve sequencing the surviving short oligonucleotides and aligning to genome assemblies from related, modern species. Here, we report that skin from a female woolly mammoth (†Mammuthus primigenius) that died 52,000 years ago retained its ancient genome architecture. We use PaleoHi-C ... | Cell | Cell | 2024 Jul 11 | 2,024 | [
"Sandoval-Velasco M",
"Dudchenko O",
"Rodríguez JA",
"Pérez Estrada C",
"Dehasque M",
"Fontsere C",
"Mak SST",
"Khan R",
"Contessoto VG",
"Oliveira Junior AB",
"Kalluchi A",
"Zubillaga Herrera BJ",
"Jeong J",
"Roy RP",
"Christopher I",
"Weisz D",
"Omer AD",
"Batra SS",
"Shamim MS... | Sandoval-Velasco M | Aiden EL | [
"Animals",
"Mammoths",
"Genome",
"Female",
"Skin",
"Elephants",
"Chromatin",
"Fossils",
"DNA, Ancient",
"Mice",
"Humans",
"X Chromosome"
] | [
"Journal Article"
] | 187 | 14 | 3541-3562.e51 | pmc-id: PMC12128189;manuscript-id: NIHMS2080664; | 0092-8674 | eng | https://pubmed.ncbi.nlm.nih.gov/38996487/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
38766054 | 10.1101/2024.05.05.592437 | Functional dissection of complex and molecular trait variants at single nucleotide resolution | Identifying the causal variants and mechanisms that drive complex traits and diseases remains a core problem in human genetics. The majority of these variants have individually weak effects and lie in non-coding gene-regulatory elements where we lack a complete understanding of how single nucleotide alterations modulat... | bioRxiv | bioRxiv : the preprint server for biology | 2024 May 6 | 2,024 | [
"Siraj L",
"Castro RI",
"Dewey H",
"Kales S",
"Nguyen TTL",
"Kanai M",
"Berenzy D",
"Mouri K",
"Wang QS",
"McCaw ZR",
"Gosai SJ",
"Aguet F",
"Cui R",
"Vockley CM",
"Lareau CA",
"Okada Y",
"Gusev A",
"Jones TR",
"Lander ES",
"Sabeti PC",
"Finucane HK",
"Reilly SK",
"Ulirsc... | Siraj L | Tewhey R | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC11100724; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/38766054/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
38326615 | 10.1038/s41586-024-07022-x | Convergence of coronary artery disease genes onto endothelial cell programs | Linking variants from genome-wide association studies (GWAS) to underlying mechanisms of disease remains a challenge1-3. For some diseases, a successful strategy has been to look for cases in which multiple GWAS loci contain genes that act in the same biological pathway1-6. However, our knowledge of which genes act in ... | Nature | Nature | 2024 Feb | 2,024 | [
"Schnitzler GR",
"Kang H",
"Fang S",
"Angom RS",
"Lee-Kim VS",
"Ma XR",
"Zhou R",
"Zeng T",
"Guo K",
"Taylor MS",
"Vellarikkal SK",
"Barry AE",
"Sias-Garcia O",
"Bloemendal A",
"Munson G",
"Guckelberger P",
"Nguyen TH",
"Bergman DT",
"Hinshaw S",
"Cheng N",
"Cleary B",
"Ara... | Schnitzler GR | Engreitz JM | [
"Humans",
"Coronary Artery Disease",
"Endothelial Cells",
"Genetic Predisposition to Disease",
"Genome-Wide Association Study",
"Hemangioma, Cavernous, Central Nervous System",
"Polymorphism, Single Nucleotide",
"Epigenomics",
"Signal Transduction",
"Multifactorial Inheritance",
"Carrier Protein... | [
"Journal Article",
"Research Support, N.I.H., Extramural"
] | 626 | 8000 | 799-807 | pmc-id: PMC10921916;manuscript-id: NIHMS1968238; | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/38326615/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
38326571 | 10.1038/s41564-023-01589-3 | Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever | Infection with Lassa virus (LASV) can cause Lassa fever, a haemorrhagic illness with an estimated fatality rate of 29.7%, but causes no or mild symptoms in many individuals. Here, to investigate whether human genetic variation underlies the heterogeneity of LASV infection, we carried out genome-wide association studies... | Nat Microbiol | Nature microbiology | 2024 Mar | 2,024 | [
"Kotliar D",
"Raju S",
"Tabrizi S",
"Odia I",
"Goba A",
"Momoh M",
"Sandi JD",
"Nair P",
"Phelan E",
"Tariyal R",
"Eromon PE",
"Mehta S",
"Robles-Sikisaka R",
"Siddle KJ",
"Stremlau M",
"Jalloh S",
"Gire SK",
"Winnicki S",
"Chak B",
"Schaffner SF",
"Pauthner M",
"Karlsson E... | Kotliar D | Sabeti PC | [
"Humans",
"Lassa Fever",
"Genome-Wide Association Study",
"Seroepidemiologic Studies",
"Lassa virus",
"Fever",
"Human Genetics"
] | [
"Journal Article"
] | 9 | 3 | 751-762 | pmc-id: PMC10914620; | 2058-5276 | eng | https://pubmed.ncbi.nlm.nih.gov/38326571/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
38187584 | 10.1101/2023.12.20.572268 | Rewriting regulatory DNA to dissect and reprogram gene expression | Regulatory DNA sequences within enhancers and promoters bind transcription factors to encode cell type-specific patterns of gene expression. However, the regulatory effects and programmability of such DNA sequences remain difficult to map or predict because we have lacked scalable methods to precisely edit regulatory D... | bioRxiv | bioRxiv : the preprint server for biology | 2023 Dec 21 | 2,023 | [
"Martyn GE",
"Montgomery MT",
"Jones H",
"Guo K",
"Doughty BR",
"Linder J",
"Chen Z",
"Cochran K",
"Lawrence KA",
"Munson G",
"Pampari A",
"Fulco CP",
"Kelley DR",
"Lander ES",
"Kundaje A",
"Engreitz JM"
] | Martyn GE | Engreitz JM | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC10769263; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/38187584/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
37640881 | 10.1038/s41588-023-01487-8 | Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies | Linkage disequilibrium (LD) is the correlation among nearby genetic variants. In genetic association studies, LD is often modeled using large correlation matrices, but this approach is inefficient, especially in ancestrally diverse studies. In the present study, we introduce LD graphical models (LDGMs), which are an ex... | Nat Genet | Nature genetics | 2023 Sep | 2,023 | [
"Salehi Nowbandegani P",
"Wohns AW",
"Ballard JL",
"Lander ES",
"Bloemendal A",
"Neale BM",
"O'Connor LJ"
] | Salehi Nowbandegani P | O'Connor LJ | [
"Humans",
"Linkage Disequilibrium",
"Alleles",
"Gene Frequency",
"Genetic Association Studies",
"Haplotypes"
] | [
"Journal Article"
] | 55 | 9 | 1494-1502 | null | 1061-4036 | eng | https://pubmed.ncbi.nlm.nih.gov/37640881/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
37443254 | 10.1038/s41588-023-01443-6 | Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases | Genome-wide association studies (GWASs) are a valuable tool for understanding the biology of complex human traits and diseases, but associated variants rarely point directly to causal genes. In the present study, we introduce a new method, polygenic priority score (PoPS), that learns trait-relevant gene features, such ... | Nat Genet | Nature genetics | 2023 Aug | 2,023 | [
"Weeks EM",
"Ulirsch JC",
"Cheng NY",
"Trippe BL",
"Fine RS",
"Miao J",
"Patwardhan TA",
"Kanai M",
"Nasser J",
"Fulco CP",
"Tashman KC",
"Aguet F",
"Li T",
"Ordovas-Montanes J",
"Smillie CS",
"Biton M",
"Shalek AK",
"Ananthakrishnan AN",
"Xavier RJ",
"Regev A",
"Gupta RM",
... | Weeks EM | Finucane HK | [
"Humans",
"Multifactorial Inheritance",
"Quantitative Trait Loci",
"Genome-Wide Association Study",
"Genetic Predisposition to Disease",
"Phenotype",
"Polymorphism, Single Nucleotide"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 55 | 8 | 1267-1276 | pmc-id: PMC10836580;manuscript-id: NIHMS1956161; | 1061-4036 | eng | https://pubmed.ncbi.nlm.nih.gov/37443254/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
37137305 | 10.1016/j.cell.2023.03.035 | Massively parallel base editing to map variant effects in human hematopoiesis | Systematic evaluation of the impact of genetic variants is critical for the study and treatment of human physiology and disease. While specific mutations can be introduced by genome engineering, we still lack scalable approaches that are applicable to the important setting of primary cells, such as blood and immune cel... | Cell | Cell | 2023 May 25 | 2,023 | [
"Martin-Rufino JD",
"Castano N",
"Pang M",
"Grody EI",
"Joubran S",
"Caulier A",
"Wahlster L",
"Li T",
"Qiu X",
"Riera-Escandell AM",
"Newby GA",
"Al'Khafaji A",
"Chaudhary S",
"Black S",
"Weng C",
"Munson G",
"Liu DR",
"Wlodarski MW",
"Sims K",
"Oakley JH",
"Fasano RM",
"X... | Martin-Rufino JD | Sankaran VG | [
"Humans",
"Cell Differentiation",
"CRISPR-Cas Systems",
"Gene Editing",
"Genome",
"Hematopoiesis",
"Hematopoietic Stem Cells",
"Genetic Engineering",
"Single-Cell Analysis"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 186 | 11 | 2456-2474.e24 | pmc-id: PMC10225359;manuscript-id: NIHMS1892260; | 0092-8674 | eng | https://pubmed.ncbi.nlm.nih.gov/37137305/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
36215124 | 10.1161/CIRCGEN.121.003598 | Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease | A key goal of precision medicine is to disaggregate common, complex diseases into discrete molecular subtypes. Rare coding variants in the low-density lipoprotein receptor gene (LDLR) are identified in 1% to 2% of coronary artery disease (CAD) patients, defining a molecular subtype with risk driven by hypercholesterole... | Circ Genom Precis Med | Circulation. Genomic and precision medicine | 2022 Dec | 2,022 | [
"Khera AV",
"Wang M",
"Chaffin M",
"Emdin CA",
"Samani NJ",
"Schunkert H",
"Watkins H",
"McPherson R",
"Erdmann J",
"Elosua R",
"Boerwinkle E",
"Ardissino D",
"Butterworth AS",
"Di Angelantonio E",
"Naheed A",
"Danesh J",
"Chowdhury R",
"Krumholz HM",
"Sheu WH",
"Rich SS",
"R... | Khera AV | Kathiresan S | [
"Humans",
"Coronary Artery Disease",
"Polymorphism, Genetic",
"Nitric Oxide",
"Cholesterol",
"Hypercholesterolemia"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 15 | 6 | e003598 | pmc-id: PMC9771961;manuscript-id: NIHMS1837855; | 2574-8300 | eng | https://pubmed.ncbi.nlm.nih.gov/36215124/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
36177448 | 10.1016/j.xgen.2022.100169 | A patient-driven clinicogenomic partnership for metastatic prostate cancer | Molecular profiling studies have enabled discoveries for metastatic prostate cancer (MPC) but have predominantly occurred in academic medical institutions and involved non-representative patient populations. We established the Metastatic Prostate Cancer Project (MPCproject, mpcproject.org), a patient-partnered initiati... | Cell Genom | Cell genomics | 2022 Sep 14 | 2,022 | [
"Crowdis J",
"Balch S",
"Sterlin L",
"Thomas BS",
"Camp SY",
"Dunphy M",
"Anastasio E",
"Shah S",
"Damon AL",
"Ramos R",
"Sosa DM",
"Small IK",
"Tomson BN",
"Nguyen CM",
"McGillicuddy M",
"Chastain PS",
"He MX",
"Cheung ATM",
"Wankowicz S",
"Tewari AK",
"Kim D",
"AlDubayan ... | Crowdis J | Van Allen EM | [] | [
"Journal Article"
] | 2 | 9 | null | pmc-id: PMC9518748;manuscript-id: NIHMS1836575; | 2666-979X | eng | https://pubmed.ncbi.nlm.nih.gov/36177448/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
36048760 | 10.1371/journal.pgen.1010294 | Neurocognitive trajectory and proteomic signature of inherited risk for Alzheimer's disease | For Alzheimer's disease-a leading cause of dementia and global morbidity-improved identification of presymptomatic high-risk individuals and identification of new circulating biomarkers are key public health needs. Here, we tested the hypothesis that a polygenic predictor of risk for Alzheimer's disease would identify ... | PLoS Genet | PLoS genetics | 2022 Sep | 2,022 | [
"Paranjpe MD",
"Chaffin M",
"Zahid S",
"Ritchie S",
"Rotter JI",
"Rich SS",
"Gerszten R",
"Guo X",
"Heckbert S",
"Tracy R",
"Danesh J",
"Lander ES",
"Inouye M",
"Kathiresan S",
"Butterworth AS",
"Khera AV"
] | Paranjpe MD | Khera AV | [
"Adult",
"Aged",
"Alzheimer Disease",
"Biomarkers",
"Cross-Sectional Studies",
"Genome-Wide Association Study",
"Humans",
"Middle Aged",
"Proteomics"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 18 | 9 | e1010294 | pmc-id: PMC9436054; | 1553-7390 | eng | https://pubmed.ncbi.nlm.nih.gov/36048760/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
35969771 | 10.1073/pnas.2207392119 | Inferring gene regulation from stochastic transcriptional variation across single cells at steady state | Regulatory relationships between transcription factors (TFs) and their target genes lie at the heart of cellular identity and function; however, uncovering these relationships is often labor-intensive and requires perturbations. Here, we propose a principled framework to systematically infer gene regulation for all TFs... | Proc Natl Acad Sci U S A | Proceedings of the National Academy of Sciences of the United States of America | 2022 Aug 23 | 2,022 | [
"Gupta A",
"Martin-Rufino JD",
"Jones TR",
"Subramanian V",
"Qiu X",
"Grody EI",
"Bloemendal A",
"Weng C",
"Niu SY",
"Min KH",
"Mehta A",
"Zhang K",
"Siraj L",
"Al' Khafaji A",
"Sankaran VG",
"Raychaudhuri S",
"Cleary B",
"Grossman S",
"Lander ES"
] | Gupta A | Lander ES | [
"Computer Simulation",
"Gene Expression Regulation",
"Gene Regulatory Networks",
"Models, Biological",
"Transcription Factors"
] | [
"Journal Article",
"Research Support, Non-U.S. Gov't"
] | 119 | 34 | e2207392119 | pmc-id: PMC9407670; | 0027-8424 | eng | https://pubmed.ncbi.nlm.nih.gov/35969771/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
35594906 | 10.1038/s41586-022-04877-w | Compatibility rules of human enhancer and promoter sequences | Gene regulation in the human genome is controlled by distal enhancers that activate specific nearby promoters1. A proposed model for this specificity is that promoters have sequence-encoded preferences for certain enhancers, for example, mediated by interacting sets of transcription factors or cofactors2. This 'biochem... | Nature | Nature | 2022 Jul | 2,022 | [
"Bergman DT",
"Jones TR",
"Liu V",
"Ray J",
"Jagoda E",
"Siraj L",
"Kang HY",
"Nasser J",
"Kane M",
"Rios A",
"Nguyen TH",
"Grossman SR",
"Fulco CP",
"Lander ES",
"Engreitz JM"
] | Bergman DT | Engreitz JM | [
"Enhancer Elements, Genetic",
"Humans",
"Promoter Regions, Genetic",
"RNA",
"Transcription Factors"
] | [
"Journal Article"
] | 607 | 7917 | 176-184 | pmc-id: PMC9262863;manuscript-id: NIHMS1816171; | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/35594906/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
35108499 | 10.1016/j.cell.2021.12.045 | Mapping transcriptomic vector fields of single cells | Single-cell (sc)RNA-seq, together with RNA velocity and metabolic labeling, reveals cellular states and transitions at unprecedented resolution. Fully exploiting these data, however, requires kinetic models capable of unveiling governing regulatory functions. Here, we introduce an analytical framework dynamo (https://g... | Cell | Cell | 2022 Feb 17 | 2,022 | [
"Qiu X",
"Zhang Y",
"Martin-Rufino JD",
"Weng C",
"Hosseinzadeh S",
"Yang D",
"Pogson AN",
"Hein MY",
"Hoi Joseph Min K",
"Wang L",
"Grody EI",
"Shurtleff MJ",
"Yuan R",
"Xu S",
"Ma Y",
"Replogle JM",
"Lander ES",
"Darmanis S",
"Bahar I",
"Sankaran VG",
"Xing J",
"Weissman ... | Qiu X | Weissman JS | [
"Algorithms",
"Female",
"Gene Expression Regulation",
"HL-60 Cells",
"Hematopoiesis",
"Hematopoietic Stem Cells",
"Humans",
"Kinetics",
"Models, Biological",
"RNA, Messenger",
"Single-Cell Analysis",
"Staining and Labeling",
"Transcriptome"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't",
"Research Support, U.S. Gov't, Non-P.H.S."
] | 185 | 4 | 690-711.e45 | pmc-id: PMC9332140;manuscript-id: NIHMS1802444; | 0092-8674 | eng | https://pubmed.ncbi.nlm.nih.gov/35108499/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
34255846 | 10.1093/infdis/jiab367 | Cross-Sectional Assessment of SARS-CoV-2 Viral Load by Symptom Status in Massachusetts Congregate Living Facilities | Transmission of coronavirus disease 2019 (COVID-19) from people without symptoms confounds societal mitigation strategies. From April to June 2020, we tested nasopharyngeal swabs by reverse transcriptase quantitative polymerase chain reaction (RT-qPCR) from 15 514 staff and 16 966 residents of nursing homes and assiste... | J Infect Dis | The Journal of infectious diseases | 2021 Nov 22 | 2,021 | [
"Lennon NJ",
"Bhattacharyya RP",
"Mina MJ",
"Rehm HL",
"Hung DT",
"Smole S",
"Woolley A",
"Lander ES",
"Gabriel SB"
] | Lennon NJ | Gabriel SB | [
"COVID-19",
"Cross-Sectional Studies",
"Humans",
"Reverse Transcriptase Polymerase Chain Reaction",
"SARS-CoV-2",
"Viral Load"
] | [
"Journal Article"
] | 224 | 10 | 1658-1663 | pmc-id: PMC8420626; | 0022-1899 | eng | https://pubmed.ncbi.nlm.nih.gov/34255846/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
34244402 | 10.1126/science.abj8547 | ARPA-H: Accelerating biomedical breakthroughs | null | Science | Science (New York, N.Y.) | 2021 Jul 9 | 2,021 | [
"Collins FS",
"Schwetz TA",
"Tabak LA",
"Lander ES"
] | Collins FS | Lander ES | [] | [
"Journal Article"
] | 373 | 6551 | 165-167 | null | 0036-8075 | eng | https://pubmed.ncbi.nlm.nih.gov/34244402/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
33859401 | 10.1038/s41587-021-00883-x | Compressed sensing for highly efficient imaging transcriptomics | Recent methods for spatial imaging of tissue samples can identify up to ~100 individual proteins1-3 or RNAs4-10 at single-cell resolution. However, the number of proteins or genes that can be studied in these approaches is limited by long imaging times. Here we introduce Composite In Situ Imaging (CISI), a method that ... | Nat Biotechnol | Nature biotechnology | 2021 Aug | 2,021 | [
"Cleary B",
"Simonton B",
"Bezney J",
"Murray E",
"Alam S",
"Sinha A",
"Habibi E",
"Marshall J",
"Lander ES",
"Chen F",
"Regev A"
] | Cleary B | Regev A | [
"Animals",
"Brain",
"Brain Chemistry",
"Gene Expression Profiling",
"Mice",
"Mice, Inbred C57BL",
"Molecular Imaging",
"Signal Processing, Computer-Assisted",
"Transcriptome"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 39 | 8 | 936-942 | pmc-id: PMC8355028;manuscript-id: NIHMS1689292; | 1087-0156 | eng | https://pubmed.ncbi.nlm.nih.gov/33859401/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
33828297 | 10.1038/s41586-021-03446-x | Genome-wide enhancer maps link risk variants to disease genes | Genome-wide association studies (GWAS) have identified thousands of noncoding loci that are associated with human diseases and complex traits, each of which could reveal insights into the mechanisms of disease1. Many of the underlying causal variants may affect enhancers2,3, but we lack accurate maps of enhancers and t... | Nature | Nature | 2021 May | 2,021 | [
"Nasser J",
"Bergman DT",
"Fulco CP",
"Guckelberger P",
"Doughty BR",
"Patwardhan TA",
"Jones TR",
"Nguyen TH",
"Ulirsch JC",
"Lekschas F",
"Mualim K",
"Natri HM",
"Weeks EM",
"Munson G",
"Kane M",
"Kang HY",
"Cui A",
"Ray JP",
"Eisenhaure TM",
"Collins RL",
"Dey K",
"Pfist... | Nasser J | Engreitz JM | [
"Cell Line",
"Chromosomes, Human, Pair 10",
"Cyclophilins",
"Dendritic Cells",
"Enhancer Elements, Genetic",
"Female",
"Genetic Predisposition to Disease",
"Genetic Variation",
"Genome, Human",
"Genome-Wide Association Study",
"Humans",
"Inflammatory Bowel Diseases",
"Macrophages",
"Male",... | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't",
"Research Support, U.S. Gov't, Non-P.H.S."
] | 593 | 7858 | 238-243 | pmc-id: PMC9153265;manuscript-id: NIHMS1785562; | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/33828297/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
33707633 | 10.1038/s41586-021-03280-1 | Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes | null | Nature | Nature | 2021 Mar | 2,021 | [
"Bick AG",
"Weinstock JS",
"Nandakumar SK",
"Fulco CP",
"Bao EL",
"Zekavat SM",
"Szeto MD",
"Liao X",
"Leventhal MJ",
"Nasser J",
"Chang K",
"Laurie C",
"Burugula BB",
"Gibson CJ",
"Niroula A",
"Lin AE",
"Taub MA",
"Aguet F",
"Ardlie K",
"Mitchell BD",
"Barnes KC",
"Moscati... | Bick AG | Natarajan P | [] | [
"Published Erratum"
] | 591 | 7851 | E27 | null | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/33707633/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
33513366 | 10.1016/j.cmet.2021.01.001 | A regulatory variant at 3q21.1 confers an increased pleiotropic risk for hyperglycemia and altered bone mineral density | Skeletal and glycemic traits have shared etiology, but the underlying genetic factors remain largely unknown. To identify genetic loci that may have pleiotropic effects, we studied Genome-wide association studies (GWASs) for bone mineral density and glycemic traits and identified a bivariate risk locus at 3q21. Using s... | Cell Metab | Cell metabolism | 2021 Mar 2 | 2,021 | [
"Sinnott-Armstrong N",
"Sousa IS",
"Laber S",
"Rendina-Ruedy E",
"Nitter Dankel SE",
"Ferreira T",
"Mellgren G",
"Karasik D",
"Rivas M",
"Pritchard J",
"Guntur AR",
"Cox RD",
"Lindgren CM",
"Hauner H",
"Sallari R",
"Rosen CJ",
"Hsu YH",
"Lander ES",
"Kiel DP",
"Claussnitzer M"
... | Sinnott-Armstrong N | Claussnitzer M | [
"Adenylyl Cyclases",
"Adipocytes",
"Adult",
"Bone Density",
"Cell Differentiation",
"Cells, Cultured",
"Diabetes Mellitus, Type 2",
"Female",
"Genetic Loci",
"Genome-Wide Association Study",
"Haplotypes",
"Humans",
"Lipid Peroxidation",
"Male",
"Middle Aged",
"Osteoblasts",
"Polymorp... | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 33 | 3 | 615-628.e13 | pmc-id: PMC7928941; | 1550-4131 | eng | https://pubmed.ncbi.nlm.nih.gov/33513366/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
33393745 | 10.1056/NEJMp2030694 | Human Molecular Genetics and Genomics - Important Advances and Exciting Possibilities | null | N Engl J Med | The New England journal of medicine | 2021 Jan 7 | 2,021 | [
"Collins FS",
"Doudna JA",
"Lander ES",
"Rotimi CN"
] | Collins FS | Rotimi CN | [
"Clustered Regularly Interspaced Short Palindromic Repeats",
"Genetic Diseases, Inborn",
"Genetics, Medical",
"Genomics",
"History, 20th Century",
"History, 21st Century",
"Human Genome Project",
"Humans",
"Molecular Biology",
"National Academies of Science, Engineering, and Medicine, U.S., Health... | [
"Historical Article",
"Journal Article"
] | 384 | 1 | 1-4 | null | 0028-4793 | eng | https://pubmed.ncbi.nlm.nih.gov/33393745/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
33377127 | 10.1016/j.xcrm.2020.100156 | Delivery Mode Affects Stability of Early Infant Gut Microbiota | Mode of delivery strongly influences the early infant gut microbiome. Children born by cesarean section (C-section) lack Bacteroides species until 6-18 months of age. One hypothesis is that these differences stem from lack of exposure to the maternal vaginal microbiome. Here, we re-evaluate this hypothesis by comparing... | Cell Rep Med | Cell reports. Medicine | 2020 Dec 22 | 2,020 | [
"Mitchell CM",
"Mazzoni C",
"Hogstrom L",
"Bryant A",
"Bergerat A",
"Cher A",
"Pochan S",
"Herman P",
"Carrigan M",
"Sharp K",
"Huttenhower C",
"Lander ES",
"Vlamakis H",
"Xavier RJ",
"Yassour M"
] | Mitchell CM | Yassour M | [
"Bacteroides",
"Cesarean Section",
"Delivery, Obstetric",
"Female",
"Gastrointestinal Microbiome",
"Humans",
"Infant",
"Infectious Disease Transmission, Vertical",
"Microbiota",
"Pregnancy"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 1 | 9 | 100156 | pmc-id: PMC7762768; | 2666-3791 | eng | https://pubmed.ncbi.nlm.nih.gov/33377127/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
33376219 | 10.1073/pnas.2010738117 | HyPR-seq: Single-cell quantification of chosen RNAs via hybridization and sequencing of DNA probes | Single-cell quantification of RNAs is important for understanding cellular heterogeneity and gene regulation, yet current approaches suffer from low sensitivity for individual transcripts, limiting their utility for many applications. Here we present Hybridization of Probes to RNA for sequencing (HyPR-seq), a method to... | Proc Natl Acad Sci U S A | Proceedings of the National Academy of Sciences of the United States of America | 2020 Dec 29 | 2,020 | [
"Marshall JL",
"Doughty BR",
"Subramanian V",
"Guckelberger P",
"Wang Q",
"Chen LM",
"Rodriques SG",
"Zhang K",
"Fulco CP",
"Nasser J",
"Grinkevich EJ",
"Noel T",
"Mangiameli S",
"Bergman DT",
"Greka A",
"Lander ES",
"Chen F",
"Engreitz JM"
] | Marshall JL | Engreitz JM | [
"Animals",
"CRISPR-Cas Systems",
"DNA Probes",
"Gene Expression",
"High-Throughput Nucleotide Sequencing",
"Humans",
"Introns",
"K562 Cells",
"Kidney",
"Mice",
"Nucleic Acid Hybridization",
"Polyadenylation",
"RNA",
"RNA, Messenger",
"Single-Cell Analysis",
"THP-1 Cells",
"Time Facto... | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't",
"Research Support, U.S. Gov't, Non-P.H.S."
] | 117 | 52 | 33404-33413 | pmc-id: PMC7776864; | 0027-8424 | eng | https://pubmed.ncbi.nlm.nih.gov/33376219/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
33349665 | 10.1038/s41564-020-00846-z | The SARS-CoV-2 RNA-protein interactome in infected human cells | Characterizing the interactions that SARS-CoV-2 viral RNAs make with host cell proteins during infection can improve our understanding of viral RNA functions and the host innate immune response. Using RNA antisense purification and mass spectrometry, we identified up to 104 human proteins that directly and specifically... | Nat Microbiol | Nature microbiology | 2021 Mar | 2,021 | [
"Schmidt N",
"Lareau CA",
"Keshishian H",
"Ganskih S",
"Schneider C",
"Hennig T",
"Melanson R",
"Werner S",
"Wei Y",
"Zimmer M",
"Ade J",
"Kirschner L",
"Zielinski S",
"Dölken L",
"Lander ES",
"Caliskan N",
"Fischer U",
"Vogel J",
"Carr SA",
"Bodem J",
"Munschauer M"
] | Schmidt N | Munschauer M | [
"Autoantigens",
"COVID-19",
"Cell Line",
"Host-Pathogen Interactions",
"Humans",
"Protein Interaction Maps",
"Proteome",
"RNA, Viral",
"RNA-Binding Proteins",
"Ribonucleoproteins",
"SARS-CoV-2",
"Virus Replication",
"SS-B Antigen"
] | [
"Journal Article",
"Research Support, Non-U.S. Gov't"
] | 6 | 3 | 339-353 | pmc-id: PMC7906908; | 2058-5276 | eng | https://pubmed.ncbi.nlm.nih.gov/33349665/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
33057201 | 10.1038/s41586-020-2819-2 | Inherited causes of clonal haematopoiesis in 97,691 whole genomes | Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown1. The age-related acquisition of somatic mutations that lead to clonal expansion in regenerating haematopoietic stem cell populations has recently been associated with both haem... | Nature | Nature | 2020 Oct | 2,020 | [
"Bick AG",
"Weinstock JS",
"Nandakumar SK",
"Fulco CP",
"Bao EL",
"Zekavat SM",
"Szeto MD",
"Liao X",
"Leventhal MJ",
"Nasser J",
"Chang K",
"Laurie C",
"Burugula BB",
"Gibson CJ",
"Lin AE",
"Taub MA",
"Aguet F",
"Ardlie K",
"Mitchell BD",
"Barnes KC",
"Moscati A",
"Fornage... | Bick AG | Natarajan P | [
"Adult",
"Africa",
"Aged",
"Aged, 80 and over",
"Black People",
"Cell Self Renewal",
"Clonal Hematopoiesis",
"DNA-Binding Proteins",
"Dioxygenases",
"Female",
"Genetic Predisposition to Disease",
"Genome, Human",
"Germ-Line Mutation",
"Hematopoietic Stem Cells",
"Humans",
"Intracellula... | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 586 | 7831 | 763-768 | pmc-id: PMC7944936;manuscript-id: NIHMS1609346; | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/33057201/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
32820175 | 10.1038/s41467-020-17374-3 | Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions | Genetic variation can predispose to disease both through (i) monogenic risk variants that disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that involves many variants of small effect in different pathways. Few studies have explored the interplay between monogenic and polygenic risk. He... | Nat Commun | Nature communications | 2020 Aug 20 | 2,020 | [
"Fahed AC",
"Wang M",
"Homburger JR",
"Patel AP",
"Bick AG",
"Neben CL",
"Lai C",
"Brockman D",
"Philippakis A",
"Ellinor PT",
"Cassa CA",
"Lebo M",
"Ng K",
"Lander ES",
"Zhou AY",
"Kathiresan S",
"Khera AV"
] | Fahed AC | Khera AV | [
"Aged",
"Breast Neoplasms",
"Case-Control Studies",
"Colorectal Neoplasms",
"Coronary Artery Disease",
"Female",
"Genetic Predisposition to Disease",
"Genome, Human",
"Humans",
"Male",
"Middle Aged",
"Multifactorial Inheritance",
"Odds Ratio",
"Penetrance",
"Risk Factors"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 11 | 1 | 3635 | pmc-id: PMC7441381; | 2041-1723 | eng | https://pubmed.ncbi.nlm.nih.gov/32820175/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
32460305 | 10.1038/s41586-020-2371-0 | Mapping and characterization of structural variation in 17,795 human genomes | A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural variants. However, tools and resources for the study of structural variants have lagged behind those for smaller... | Nature | Nature | 2020 Jul | 2,020 | [
"Abel HJ",
"Larson DE",
"Regier AA",
"Chiang C",
"Das I",
"Kanchi KL",
"Layer RM",
"Neale BM",
"Salerno WJ",
"Reeves C",
"Buyske S",
"NHGRI Centers for Common Disease Genomics",
"Matise TC",
"Muzny DM",
"Zody MC",
"Lander ES",
"Dutcher SK",
"Stitziel NO",
"Hall IM"
] | Abel HJ | Hall IM | [
"Alleles",
"Case-Control Studies",
"Epigenesis, Genetic",
"Female",
"Gene Dosage",
"Genetic Variation",
"Genetics, Population",
"Genome, Human",
"High-Throughput Nucleotide Sequencing",
"Humans",
"Male",
"Molecular Sequence Annotation",
"Quantitative Trait Loci",
"Racial Groups",
"Softwa... | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 583 | 7814 | 83-89 | pmc-id: PMC7547914;manuscript-id: NIHMS1595842; | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/32460305/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
32199098 | 10.1016/S1474-4422(19)30403-X | Towards a treatment for genetic prion disease: trials and biomarkers | Prion disease is a rare, fatal, and exceptionally rapid neurodegenerative disease. Although incurable, prion disease follows a clear pathogenic mechanism, in which a single gene gives rise to a single prion protein (PrP) capable of converting into the sole causal disease agent, the misfolded prion. As efforts progress ... | Lancet Neurol | The Lancet. Neurology | 2020 Apr | 2,020 | [
"Vallabh SM",
"Minikel EV",
"Schreiber SL",
"Lander ES"
] | Vallabh SM | Lander ES | [
"Animals",
"Biomarkers",
"Humans",
"Neurodegenerative Diseases",
"Prion Diseases",
"Prion Proteins",
"Prions"
] | [
"Journal Article",
"Review"
] | 19 | 4 | 361-368 | null | 1474-4422 | eng | https://pubmed.ncbi.nlm.nih.gov/32199098/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
32144282 | 10.1038/s41467-020-15022-4 | Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features | Genome-wide association studies have associated thousands of genetic variants with complex traits and diseases, but pinpointing the causal variant(s) among those in tight linkage disequilibrium with each associated variant remains a major challenge. Here, we use seven experimental assays to characterize all common vari... | Nat Commun | Nature communications | 2020 Mar 6 | 2,020 | [
"Ray JP",
"de Boer CG",
"Fulco CP",
"Lareau CA",
"Kanai M",
"Ulirsch JC",
"Tewhey R",
"Ludwig LS",
"Reilly SK",
"Bergman DT",
"Engreitz JM",
"Issner R",
"Finucane HK",
"Lander ES",
"Regev A",
"Hacohen N"
] | Ray JP | Hacohen N | [
"Autoimmune Diseases",
"Cell Line, Tumor",
"Genetic Loci",
"Genetic Predisposition to Disease",
"Genetic Variation",
"Genome-Wide Association Study",
"Haplotypes",
"Humans",
"Linkage Disequilibrium",
"Multifactorial Inheritance",
"Proof of Concept Study",
"Tumor Necrosis Factor alpha-Induced P... | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 11 | 1 | 1237 | pmc-id: PMC7060350; | 2041-1723 | eng | https://pubmed.ncbi.nlm.nih.gov/32144282/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
32042194 | 10.1038/s41591-019-0749-z | The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research | Despite rare cancers accounting for 25% of adult tumors1, they are difficult to study due to the low disease incidence and geographically dispersed patient populations, which has resulted in significant unmet clinical needs for patients with rare cancers. We assessed whether a patient-partnered research approach using ... | Nat Med | Nature medicine | 2020 Feb | 2,020 | [
"Painter CA",
"Jain E",
"Tomson BN",
"Dunphy M",
"Stoddard RE",
"Thomas BS",
"Damon AL",
"Shah S",
"Kim D",
"Gómez Tejeda Zañudo J",
"Hornick JL",
"Chen YL",
"Merriam P",
"Raut CP",
"Demetri GD",
"Van Tine BA",
"Lander ES",
"Golub TR",
"Wagle N"
] | Painter CA | Wagle N | [
"Adult",
"Aged",
"Aged, 80 and over",
"Breast Neoplasms",
"Canada",
"Class I Phosphatidylinositol 3-Kinases",
"DNA Mutational Analysis",
"Exome",
"Female",
"Genome, Human",
"Genomics",
"Hemangiosarcoma",
"Humans",
"Middle Aged",
"Mutation",
"Patient Participation",
"Program Developme... | [
"Journal Article",
"Research Support, Non-U.S. Gov't"
] | 26 | 2 | 181-187 | null | 1078-8956 | eng | https://pubmed.ncbi.nlm.nih.gov/32042194/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
32015527 | 10.1038/s41588-019-0572-y | Identification of cancer driver genes based on nucleotide context | Cancer genomes contain large numbers of somatic mutations but few of these mutations drive tumor development. Current approaches either identify driver genes on the basis of mutational recurrence or approximate the functional consequences of nonsynonymous mutations by using bioinformatic scores. Passenger mutations are... | Nat Genet | Nature genetics | 2020 Feb | 2,020 | [
"Dietlein F",
"Weghorn D",
"Taylor-Weiner A",
"Richters A",
"Reardon B",
"Liu D",
"Lander ES",
"Van Allen EM",
"Sunyaev SR"
] | Dietlein F | Sunyaev SR | [
"Cluster Analysis",
"Computational Biology",
"Humans",
"Mutation",
"Neoplasms",
"Nucleotides",
"Proteins",
"Exome Sequencing"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 52 | 2 | 208-218 | pmc-id: PMC7031046;manuscript-id: NIHMS1546846; | 1061-4036 | eng | https://pubmed.ncbi.nlm.nih.gov/32015527/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
31959994 | 10.1038/s41588-019-0568-7 | Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation | Increased production of fetal hemoglobin (HbF) can ameliorate the severity of sickle cell disease and β-thalassemia1. BCL11A represses the genes encoding HbF and regulates human hemoglobin switching through variation in its expression during development2-7. However, the mechanisms underlying the developmental expressio... | Nat Genet | Nature genetics | 2020 Feb | 2,020 | [
"Basak A",
"Munschauer M",
"Lareau CA",
"Montbleau KE",
"Ulirsch JC",
"Hartigan CR",
"Schenone M",
"Lian J",
"Wang Y",
"Huang Y",
"Wu X",
"Gehrke L",
"Rice CM",
"An X",
"Christou HA",
"Mohandas N",
"Carr SA",
"Chen JJ",
"Orkin SH",
"Lander ES",
"Sankaran VG"
] | Basak A | Sankaran VG | [
"Adult",
"Animals",
"Binding Sites",
"Cells, Cultured",
"Erythroid Cells",
"Erythropoiesis",
"Gene Expression Regulation",
"Hemoglobins",
"Humans",
"Infant, Newborn",
"MicroRNAs",
"Protein Biosynthesis",
"RNA, Messenger",
"RNA, Ribosomal, 18S",
"RNA-Binding Proteins",
"Repressor Protei... | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 52 | 2 | 138-145 | pmc-id: PMC7031047;manuscript-id: NIHMS1546343; | 1061-4036 | eng | https://pubmed.ncbi.nlm.nih.gov/31959994/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
31784727 | 10.1038/s41588-019-0538-0 | Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations | Enhancer elements in the human genome control how genes are expressed in specific cell types and harbor thousands of genetic variants that influence risk for common diseases1-4. Yet, we still do not know how enhancers regulate specific genes, and we lack general rules to predict enhancer-gene connections across cell ty... | Nat Genet | Nature genetics | 2019 Dec | 2,019 | [
"Fulco CP",
"Nasser J",
"Jones TR",
"Munson G",
"Bergman DT",
"Subramanian V",
"Grossman SR",
"Anyoha R",
"Doughty BR",
"Patwardhan TA",
"Nguyen TH",
"Kane M",
"Perez EM",
"Durand NC",
"Lareau CA",
"Stamenova EK",
"Aiden EL",
"Lander ES",
"Engreitz JM"
] | Fulco CP | Engreitz JM | [
"Animals",
"Clustered Regularly Interspaced Short Palindromic Repeats",
"Enhancer Elements, Genetic",
"GATA1 Transcription Factor",
"Gene Expression Regulation",
"Histone Deacetylase 6",
"Humans",
"In Situ Hybridization, Fluorescence",
"K562 Cells",
"Mice",
"Models, Genetic",
"Promoter Regions... | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't",
"Research Support, U.S. Gov't, Non-P.H.S."
] | 51 | 12 | 1664-1669 | pmc-id: PMC6886585;manuscript-id: NIHMS1541544; | 1061-4036 | eng | https://pubmed.ncbi.nlm.nih.gov/31784727/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
31727422 | 10.1016/j.jacc.2019.08.1060 | Rare Genetic Variants Associated With Sudden Cardiac Death in Adults | Sudden cardiac death occurs in ∼220,000 U.S. adults annually, the majority of whom have no prior symptoms or cardiovascular diagnosis. Rare pathogenic DNA variants in any of 49 genes can pre-dispose to 4 important causes of sudden cardiac death: cardiomyopathy, coronary artery disease, inherited arrhythmia syndrome, an... | J Am Coll Cardiol | Journal of the American College of Cardiology | 2019 Nov 26 | 2,019 | [
"Khera AV",
"Mason-Suares H",
"Brockman D",
"Wang M",
"VanDenburgh MJ",
"Senol-Cosar O",
"Patterson C",
"Newton-Cheh C",
"Zekavat SM",
"Pester J",
"Chasman DI",
"Kabrhel C",
"Jensen MK",
"Manson JE",
"Gaziano JM",
"Taylor KD",
"Sotoodehnia N",
"Post WS",
"Rich SS",
"Rotter JI",... | Khera AV | Kathiresan S | [
"Aged",
"Aged, 80 and over",
"Case-Control Studies",
"Death, Sudden, Cardiac",
"Female",
"Genetic Predisposition to Disease",
"Humans",
"Male",
"Middle Aged",
"Exome Sequencing"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 74 | 21 | 2623-2634 | pmc-id: PMC7067308;manuscript-id: NIHMS1546999; | 0735-1097 | eng | https://pubmed.ncbi.nlm.nih.gov/31727422/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
31636380 | 10.1038/s41380-019-0529-7 | Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation | A correction to this paper has been published and can be accessed via a link at the top of the paper. | Mol Psychiatry | Molecular psychiatry | 2020 Aug | 2,020 | [
"Bis JC",
"Jian X",
"Kunkle BW",
"Chen Y",
"Hamilton-Nelson KL",
"Bush WS",
"Salerno WJ",
"Lancour D",
"Ma Y",
"Renton AE",
"Marcora E",
"Farrell JJ",
"Zhao Y",
"Qu L",
"Ahmad S",
"Amin N",
"Amouyel P",
"Beecham GW",
"Below JE",
"Campion D",
"Cantwell L",
"Charbonnier C",
... | Bis JC | Farrer LA | [] | [
"Published Erratum"
] | 25 | 8 | 1901-1903 | pmc-id: PMC7387240; | 1359-4184 | eng | https://pubmed.ncbi.nlm.nih.gov/31636380/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
31618643 | 10.1016/j.celrep.2019.09.021 | Gain-of-Function Claims for Type-2-Diabetes-Associated Coding Variants in SLC16A11 Are Not Supported by the Experimental Data | Human genetic variants in SLC16A11 are associated with increased risk of type 2 diabetes (T2D). We previously identified two distinct mechanisms through which co-inherited T2D-risk coding and non-coding variants disrupt SLC16A11 expression and activity, thus implicating reduced SLC16A11 function as the disease-relevant... | Cell Rep | Cell reports | 2019 Oct 15 | 2,019 | [
"Hoch E",
"Florez JC",
"Lander ES",
"Jacobs SBR"
] | Hoch E | Jacobs SBR | [
"Animals",
"Diabetes Mellitus, Type 2",
"Gain of Function Mutation",
"Haplotypes",
"Humans",
"Mice",
"Monocarboxylic Acid Transporters"
] | [
"Journal Article",
"Comment"
] | 29 | 3 | 778-780 | null | 2211-1247 | eng | https://pubmed.ncbi.nlm.nih.gov/31618643/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
31348885 | 10.1016/j.cell.2019.07.002 | Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy | Intracellular accumulation of misfolded proteins causes toxic proteinopathies, diseases without targeted therapies. Mucin 1 kidney disease (MKD) results from a frameshift mutation in the MUC1 gene (MUC1-fs). Here, we show that MKD is a toxic proteinopathy. Intracellular MUC1-fs accumulation activated the ATF6 unfolded ... | Cell | Cell | 2019 Jul 25 | 2,019 | [
"Dvela-Levitt M",
"Kost-Alimova M",
"Emani M",
"Kohnert E",
"Thompson R",
"Sidhom EH",
"Rivadeneira A",
"Sahakian N",
"Roignot J",
"Papagregoriou G",
"Montesinos MS",
"Clark AR",
"McKinney D",
"Gutierrez J",
"Roth M",
"Ronco L",
"Elonga E",
"Carter TA",
"Gnirke A",
"Melanson M"... | Dvela-Levitt M | Greka A | [
"Activating Transcription Factor 6",
"Animals",
"Benzamides",
"Bridged Bicyclo Compounds",
"Epithelial Cells",
"Female",
"Frameshift Mutation",
"Heptanes",
"Humans",
"Imidazoline Receptors",
"Induced Pluripotent Stem Cells",
"Kidney",
"Kidney Diseases",
"Lysosomes",
"Male",
"Mice",
"... | [
"Journal Article",
"Research Support, Non-U.S. Gov't"
] | 178 | 3 | 521-535.e23 | null | 0092-8674 | eng | https://pubmed.ncbi.nlm.nih.gov/31348885/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
31217586 | 10.1038/s41586-019-1315-z | Large-scale chemical-genetics yields new M. tuberculosis inhibitor classes | New antibiotics are needed to combat rising levels of resistance, with new Mycobacterium tuberculosis (Mtb) drugs having the highest priority. However, conventional whole-cell and biochemical antibiotic screens have failed. Here we develop a strategy termed PROSPECT (primary screening of strains to prioritize expanded ... | Nature | Nature | 2019 Jul | 2,019 | [
"Johnson EO",
"LaVerriere E",
"Office E",
"Stanley M",
"Meyer E",
"Kawate T",
"Gomez JE",
"Audette RE",
"Bandyopadhyay N",
"Betancourt N",
"Delano K",
"Da Silva I",
"Davis J",
"Gallo C",
"Gardner M",
"Golas AJ",
"Guinn KM",
"Kennedy S",
"Korn R",
"McConnell JA",
"Moss CE",
... | Johnson EO | Hung DT | [
"Antitubercular Agents",
"DNA Gyrase",
"Drug Discovery",
"Drug Resistance, Microbial",
"Folic Acid",
"Gene Deletion",
"Microbial Sensitivity Tests",
"Molecular Targeted Therapy",
"Mycobacterium tuberculosis",
"Mycolic Acids",
"Reproducibility of Results",
"Small Molecule Libraries",
"Substra... | [
"Journal Article"
] | 571 | 7763 | 72-78 | null | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/31217586/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
31036669 | 10.1073/pnas.1900570116 | Defining the core essential genome of Pseudomonas aeruginosa | Genomics offered the promise of transforming antibiotic discovery by revealing many new essential genes as good targets, but the results fell short of the promise. While numerous factors contributed to the disappointing yield, one factor was that essential genes for a bacterial species were often defined based on a sin... | Proc Natl Acad Sci U S A | Proceedings of the National Academy of Sciences of the United States of America | 2019 May 14 | 2,019 | [
"Poulsen BE",
"Yang R",
"Clatworthy AE",
"White T",
"Osmulski SJ",
"Li L",
"Penaranda C",
"Lander ES",
"Shoresh N",
"Hung DT"
] | Poulsen BE | Hung DT | [
"DNA Transposable Elements",
"Genes, Essential",
"Genome, Bacterial",
"Models, Statistical",
"Pseudomonas aeruginosa"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 116 | 20 | 10072-10080 | pmc-id: PMC6525520; | 0027-8424 | eng | https://pubmed.ncbi.nlm.nih.gov/31036669/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
31002795 | 10.1016/j.cell.2019.03.028 | Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood | Severe obesity is a rapidly growing global health threat. Although often attributed to unhealthy lifestyle choices or environmental factors, obesity is known to be heritable and highly polygenic; the majority of inherited susceptibility is related to the cumulative effect of many common DNA variants. Here we derive and... | Cell | Cell | 2019 Apr 18 | 2,019 | [
"Khera AV",
"Chaffin M",
"Wade KH",
"Zahid S",
"Brancale J",
"Xia R",
"Distefano M",
"Senol-Cosar O",
"Haas ME",
"Bick A",
"Aragam KG",
"Lander ES",
"Smith GD",
"Mason-Suares H",
"Fornage M",
"Lebo M",
"Timpson NJ",
"Kaplan LM",
"Kathiresan S"
] | Khera AV | Kathiresan S | [
"Adolescent",
"Body Mass Index",
"Body Weight",
"Child",
"Databases, Factual",
"Female",
"Genome-Wide Association Study",
"Humans",
"Infant, Newborn",
"Longitudinal Studies",
"Male",
"Middle Aged",
"Multifactorial Inheritance",
"Obesity",
"Risk Factors",
"Severity of Illness Index"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, N.I.H., Intramural",
"Research Support, Non-U.S. Gov't"
] | 177 | 3 | 587-596.e9 | pmc-id: PMC6661115;manuscript-id: NIHMS1535553; | 0092-8674 | eng | https://pubmed.ncbi.nlm.nih.gov/31002795/ | ENDC5psocNV258waT | fBiR6Lki005vebWjt |
42523508 | 10.64898/2026.07.14.26358094 | Multi-tissue analyses of allele-specific chromatin accessibility nominate likely functional variants for type 2 diabetes | Genome-wide association studies (GWAS) have identified >1,200 signals associated with type 2 diabetes (T2D), yet identifying functional variants remains challenging because the majority of them lie in noncoding regions of the genome and are in areas of high linkage disequilibrium (LD). While chromatin accessibility QTL... | medRxiv | medRxiv : the preprint server for health sciences | 2026 Jul 15 | 2,026 | [
"Narisu N",
"Li HX",
"Rathbun CJM",
"Varshney A",
"Swift AJ",
"Yan T",
"Sinha N",
"Currin KW",
"Xue D",
"Robertson CC",
"Taylor DL",
"Taylor HJ",
"Beck A",
"Lee BN",
"Wang L",
"Broadaway KA",
"Wilson EP",
"Stringham H",
"Saramies J",
"Lakka TA",
"Spracklen CN",
"Scott LJ",
... | Narisu N | Collins FS | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC13405542; | null | eng | https://pubmed.ncbi.nlm.nih.gov/42523508/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
42276059 | 10.1016/j.stemcr.2026.102958 | Scalable hypothalamic neuron differentiation from human pluripotent stem cells suitable for modeling metabolic disorders | The hypothalamus, composed of multiple nuclei, is essential for maintaining the body's homeostasis. Within the mediobasal hypothalamus, the arcuate nucleus (ARC) contains key neuronal populations, including appetite-suppressing pro-opiomelanocortin (POMC) neurons that regulate energy and glucose balance. Here, we prese... | Stem Cell Reports | Stem cell reports | 2026 Jul 14 | 2,026 | [
"Jovanovic VM",
"Narisu N",
"Bonnycastle LL",
"Castellano D",
"Ryu S",
"Tharakan R",
"Mesch KT",
"Chen Q",
"Betül Erol FM",
"Glover HJ",
"Yan T",
"Sinha N",
"Sen C",
"Yang S",
"Blivis D",
"Bennett DF",
"Rosales-Soto G",
"Inman J",
"Ormanoglu P",
"LeClair CA",
"Shaw ND",
"Xi... | Jovanovic VM | Tristan CA | [
"Humans",
"Neurons",
"Pluripotent Stem Cells",
"Cell Differentiation",
"Hypothalamus",
"Metabolic Diseases",
"Pro-Opiomelanocortin",
"Models, Biological",
"Insulin",
"Glucose"
] | [
"Journal Article"
] | 21 | 7 | 102958 | pmc-id: PMC13385436; | 2213-6711 | eng | https://pubmed.ncbi.nlm.nih.gov/42276059/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
42167220 | 10.1016/j.stemcr.2026.102928 | Genetics of growth rate in induced pluripotent stem cells | Induced pluripotent stem cells (iPSCs) enabled the generation of diverse cell types; however, certain fundamental biological properties, such as the genetic and epigenetic determinants of proliferation, remain poorly characterized. We quantified proliferation across 602 unique donors with a time-lapse imaging-based gro... | Stem Cell Reports | Stem cell reports | 2026 Jun 9 | 2,026 | [
"Lee BN",
"Taylor HJ",
"Cipriani F",
"Narisu N",
"Robertson CC",
"Swift AJ",
"Sinha N",
"Yan T",
"Bonnycastle LL",
"Dale N",
"Butt A",
"Parsaud H",
"Semrau S",
"NYSCF Global Stem Cell Array Team",
"GENESiPS Consortium",
"iPSCORE Consortium",
"Knowles JW",
"Carcamo-Orive I",
"D'An... | Lee BN | Taylor DL | [
"Induced Pluripotent Stem Cells",
"Humans",
"Cell Proliferation",
"Phenotype",
"Polymorphism, Single Nucleotide"
] | [
"Journal Article"
] | 21 | 6 | 102928 | pmc-id: PMC13261958; | 2213-6711 | eng | https://pubmed.ncbi.nlm.nih.gov/42167220/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
41676558 | 10.64898/2026.02.04.702388 | Donor-matched iPSC model reveals context-dependent T2D genetic signals in fibro-adipogenic progenitors | Fibro-adipogenic progenitors (FAPs) in skeletal muscle have been implicated in type 2 diabetes (T2D) risk, yet their heterogeneity and context-dependent regulation remain poorly understood. Here, we establish induced pluripotent stem cell (iPSC)-derived FAPs as a faithful model of primary FAPs by leveraging a unique re... | bioRxiv | bioRxiv : the preprint server for biology | 2026 Feb 6 | 2,026 | [
"Ventresca C",
"Varshney A",
"Orchard P",
"Vu HTH",
"Tsan YC",
"Monteiro da Rocha A",
"Erdos MR",
"Kinnunen L",
"Lakka TA",
"Saramies J",
"Laakso M",
"Tuomilehto J",
"Mohlke KL",
"Boehnke M",
"Scott LJ",
"Koistinen HA",
"Collins FS",
"Herron T",
"Bielas S",
"Parker SCJ"
] | Ventresca C | Parker SCJ | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC12889671; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/41676558/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
41279487 | 10.1101/2025.09.09.674883 | Genetic integration with cell-specific nucleosome positioning resolves causal relationships underlying chromatin accessibility profiles | Cell type-specific chromatin accessibility QTL (caQTL) mapping is a promising approach to understand genetic control of chromatin landscapes and identify regulatory mechanisms underlying GWAS associations. However, current caQTL studies lack resolution and do not distinguish nucleosome-free regions (NFR) from positione... | bioRxiv | bioRxiv : the preprint server for biology | 2025 Oct 28 | 2,025 | [
"Wang X",
"Robertson CC",
"Varshney A",
"Manickam N",
"Orchard P",
"Laakso M",
"Tuomilehto J",
"Lakka TA",
"Mohlke KL",
"Boehnke M",
"Scott LJ",
"Koistinen HA",
"Collins FS",
"Parker SCJ"
] | Wang X | Parker SCJ | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC12636358; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/41279487/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
41279274 | 10.1101/2025.10.27.683567 | Inverse directions of association of higher physical activity and higher insulin resistance with human skeletal muscle cell type abundance and fiber-type-level gene expression | To investigate the interplay between physical activity and cardiometabolic traits in human skeletal muscle, we characterized gene expression and chromatin accessibility across skeletal muscle cell types in 263 Finnish individuals from the FUSION Tissue Biopsy Study. We analyzed skeletal muscle single-nucleus RNA-seq da... | bioRxiv | bioRxiv : the preprint server for biology | 2025 Nov 28 | 2,025 | [
"Ciotlos DL",
"Hanks SC",
"Varshney A",
"Erdos MR",
"Manickam N",
"Stringham HM",
"Orchard P",
"Hill-Burns EM",
"Narisu N",
"Bonnycastle LL",
"Sweeney MD",
"Saramies J",
"Laakso M",
"Tuomilehto J",
"Lakka TA",
"Mohlke KL",
"Boehnke M",
"Collins FS",
"Koistinen HA",
"Parker SCJ"... | Ciotlos DL | Scott LJ | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC12636436; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/41279274/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
41165680 | 10.1001/jama.2025.17074 | Screening for Hepatitis C in Emergency Departments | null | JAMA | JAMA | 2025 Dec 9 | 2,025 | [
"Fleurence RL",
"Collins FS"
] | Fleurence RL | Collins FS | [] | [
"Journal Article"
] | 334 | 22 | 2038-2039 | null | 0098-7484 | eng | https://pubmed.ncbi.nlm.nih.gov/41165680/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40992379 | 10.1016/j.ajhg.2025.09.003 | Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits | Identifying genetic variants that regulate gene expression can help uncover mechanisms underlying complex traits. We performed a meta-analysis of skeletal muscle expression quantitative trait locus (eQTL) using data from 1,002 individuals from two studies. A stepwise analysis identified 18,818 conditionally distinct si... | Am J Hum Genet | American journal of human genetics | 2025 Nov 6 | 2,025 | [
"Wilson EP",
"Broadaway KA",
"Parsons VA",
"Vadlamudi S",
"Narisu N",
"Brotman SM",
"Currin KW",
"Stringham HM",
"Erdos MR",
"Welch R",
"Holtzman JK",
"Lakka TA",
"Laakso M",
"Tuomilehto J",
"Boehnke M",
"Koistinen HA",
"Collins FS",
"Parker SCJ",
"Scott LJ",
"Mohlke KL"
] | Wilson EP | Mohlke KL | [
"Quantitative Trait Loci",
"Humans",
"Muscle, Skeletal",
"Genome-Wide Association Study",
"Diabetes Mellitus, Type 2",
"Polymorphism, Single Nucleotide",
"Genetic Predisposition to Disease"
] | [
"Journal Article",
"Meta-Analysis",
"Research Support, N.I.H., Intramural",
"Research Support, N.I.H., Extramural"
] | 112 | 11 | 2693-2707 | pmc-id: PMC12614742;manuscript-id: NIHMS2112495; | 0002-9297 | eng | https://pubmed.ncbi.nlm.nih.gov/40992379/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40890166 | 10.1038/s41597-025-05450-6 | A spatial transcriptomics dataset of pancreas sections in normal glucose tolerance and type 2 diabetic donors | Understanding the spatial distribution of gene expression in the pancreas is essential for establishing the molecular basis of pancreatic function in healthy and disease contexts. Recent platforms offer a robust method for quantifying gene expression within a spatial context. Here, we report spatial transcriptomic prof... | Sci Data | Scientific data | 2025 Sep 1 | 2,025 | [
"Howell N",
"Weiss Z",
"Bonnycastle LL",
"Grenko CM",
"Randazzo D",
"Dampier CH",
"Sinha N",
"Narisu N",
"Swift AJ",
"Erdos MR",
"Biesecker LG",
"Collins FS",
"Robertson CC",
"Taylor DL"
] | Howell N | Taylor DL | [
"Humans",
"Diabetes Mellitus, Type 2",
"Pancreas",
"Transcriptome",
"Gene Expression Profiling"
] | [
"Journal Article",
"Dataset"
] | 12 | 1 | 1526 | pmc-id: PMC12402493; | 2052-4463 | eng | https://pubmed.ncbi.nlm.nih.gov/40890166/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40737125 | 10.1016/j.celrep.2025.116065 | Integrative single-cell multi-omics profiling of human pancreatic islets identifies T1D-associated genes and regulatory signals | Genome-wide association studies (GWASs) have identified over 100 signals associated with type 1 diabetes (T1D). However, it has been challenging to translate any given T1D GWAS signal into mechanistic insights, such as causal variants, their target genes, and the specific cell types involved. Here, we present a compreh... | Cell Rep | Cell reports | 2025 Aug 26 | 2,025 | [
"D'Oliveira Albanus R",
"Zhang X",
"Zhao Z",
"Taylor HJ",
"Tang X",
"Han Y",
"Orchard P",
"Varshney A",
"Zhang T",
"Manickam N",
"Erdos MR",
"Narisu N",
"Taylor L",
"Saavedra X",
"Liu X",
"Zhong A",
"Li B",
"Zhou T",
"Naji A",
"Liu C",
"Collins FS",
"Parker SCJ",
"Chen S"... | D'Oliveira Albanus R | Chen S | [
"Humans",
"Diabetes Mellitus, Type 1",
"Single-Cell Analysis",
"Genome-Wide Association Study",
"Islets of Langerhans",
"Insulin-Secreting Cells",
"Polymorphism, Single Nucleotide",
"Human Embryonic Stem Cells",
"Apoptosis",
"Multiomics",
"Calcium-Binding Proteins",
"Membrane Proteins"
] | [
"Journal Article"
] | 44 | 8 | 116065 | pmc-id: PMC12477748;manuscript-id: NIHMS2107267; | 2211-1247 | eng | https://pubmed.ncbi.nlm.nih.gov/40737125/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40691366 | 10.1038/s41591-025-03827-z | Polygenic prediction of body mass index and obesity through the life course and across ancestries | Polygenic scores (PGSs) for body mass index (BMI) may guide early prevention and targeted treatment of obesity. Using genetic data from up to 5.1 million people (4.6% African ancestry, 14.4% American ancestry, 8.4% East Asian ancestry, 71.1% European ancestry and 1.5% South Asian ancestry) from the GIANT consortium and... | Nat Med | Nature medicine | 2025 Sep | 2,025 | [
"Smit RAJ",
"Wade KH",
"Hui Q",
"Arias JD",
"Yin X",
"Christiansen MR",
"Yengo L",
"Preuss MH",
"Nakabuye M",
"Rocheleau G",
"Graham SE",
"Buchanan VL",
"Chittoor G",
"Graff M",
"Guindo-Martínez M",
"Lu Y",
"Marouli E",
"Sakaue S",
"Spracklen CN",
"Vedantam S",
"Wilson EP",
... | Smit RAJ | Loos RJF | [
"Adolescent",
"Adult",
"Child",
"Child, Preschool",
"Female",
"Humans",
"Male",
"Middle Aged",
"Young Adult",
"Adiposity",
"Body Mass Index",
"Genetic Predisposition to Disease",
"Multifactorial Inheritance",
"Obesity",
"White People",
"Racial Groups"
] | [
"Journal Article"
] | 31 | 9 | 3151-3168 | pmc-id: PMC12443623;manuscript-id: NIHMS2107046; | 1078-8956 | eng | https://pubmed.ncbi.nlm.nih.gov/40691366/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40662098 | 10.1016/j.gimo.2025.103437 | Systematic phenotype and genotype characterization of Moebius syndrome | To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction. We applied strict diagnostic criteria and conducted clinical phenotyping of 149 individuals with MBS. Subsequently,... | Genet Med Open | Genetics in medicine open | 2025 | 2,025 | [
"Webb BD",
"Jurgens JA",
"Narisu N",
"Zhang Z",
"Barry BJ",
"Van Ryzin C",
"Bonnycastle LL",
"Chan WM",
"Yan T",
"Di Gioia SA",
"Swift AJ",
"MacKinnon SE",
"Oystreck DT",
"Rucker JC",
"Frempong T",
"Whitman MC",
"FitzGibbon EJ",
"Lee JS",
"Hao K",
"Andrews C",
"Erazo M",
"F... | Webb BD | Manoli I | [] | [
"Journal Article"
] | 3 | null | 103437 | pmc-id: PMC12256340; | 2949-7744 | eng | https://pubmed.ncbi.nlm.nih.gov/40662098/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40631191 | 10.1101/2025.07.02.662844 | Genetics of growth rate in induced pluripotent stem cells | Human induced pluripotent stem cells (iPSCs) have transformed biomedical research by enabling the generation of diverse cell types from accessible somatic tissues. However, certain fundamental biological properties, such as the genetic and epigenetic determinants of iPSC proliferation, remain poorly characterized. We m... | bioRxiv | bioRxiv : the preprint server for biology | 2025 Jul 3 | 2,025 | [
"Lee BN",
"Taylor HJ",
"Cipriani F",
"Narisu N",
"Robertson CC",
"Swift AJ",
"Sinha N",
"Yan T",
"Bonnycastle LL",
"Dale N",
"Butt A",
"Parsaud H",
"Semrau S",
"NYSCF Global Stem Cell Array Team",
"GENESiPS Consortium",
"iPSCORE Consortium",
"Knowles JW",
"Carcamo-Orive I",
"D'An... | Lee BN | Taylor DL | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC12236597; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/40631191/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40611650 | 10.1177/10556656251344128 | Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders | ObjectiveCongenital facial weakness (CFW) disorders are a heterogeneous group of rare conditions, that present at birth, with reduced facial movement, and mask-like facies. This study utilized a multimodality approach to examine the craniofacial and intraoral phenotypes among CFW disorders: Moebius syndrome (MBS), Here... | Cleft Palate Craniofac J | The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association | 2026 Jun | 2,026 | [
"Almpani K",
"Devine KR",
"Liberton DK",
"Mishra R",
"Bassim C",
"Van Ryzin C",
"Facio FM",
"Webb BD",
"Barry BJ",
"Engle EC",
"Wang Jabs E",
"Collins FS",
"Manoli I",
"Lee JS",
"Moebius Syndrome Research Consortium"
] | Almpani K | Lee JS | [
"Humans",
"Phenotype",
"Male",
"Female",
"Facial Paralysis",
"Adult",
"Craniofacial Abnormalities",
"Cephalometry",
"Cone-Beam Computed Tomography",
"Imaging, Three-Dimensional",
"Cohort Studies",
"Child",
"Adolescent",
"Mobius Syndrome"
] | [
"Journal Article"
] | 63 | 6 | 1455-1468 | pmc-id: PMC12826332;manuscript-id: NIHMS2131101; | 1055-6656 | eng | https://pubmed.ncbi.nlm.nih.gov/40611650/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40598583 | 10.1186/s13072-025-00602-9 | Detecting Protein-DNA binding in single molecules using antibody guided methylation | Characterization of DNA binding sites for specific proteins is of fundamental importance in molecular biology. It is commonly addressed experimentally by chromatin immunoprecipitation and sequencing (ChIP-seq) of bulk samples (103-107 cells). We have developed an alternative method that uses a Chromatin Antibody-mediat... | Epigenetics Chromatin | Epigenetics & chromatin | 2025 Jul 1 | 2,025 | [
"Thatavarty A",
"Sagy N",
"Erdos MR",
"Lee I",
"Simpson JT",
"Timp W",
"Collins FS",
"Bar DZ"
] | Thatavarty A | Bar DZ | [
"DNA Methylation",
"Humans",
"Protein Binding",
"DNA-Binding Proteins",
"DNA",
"Antibodies",
"Binding Sites"
] | [
"Journal Article"
] | 18 | 1 | 39 | pmc-id: PMC12210839; | 1756-8935 | eng | https://pubmed.ncbi.nlm.nih.gov/40598583/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40568065 | 10.1101/2025.06.12.659352 | Direct RNA nanopore sequencing reveals rapid RNA modification changes following glucose stimulation of human pancreatic beta-cell lines | RNA modifications are critical regulators of gene expression and cellular processes; however, the epitranscriptome is less well studied than the epigenome. Here, we studied transcriptome-wide changes in RNA modifications and expression levels in two human pancreatic beta-cell lines, EndoC-BH1 and EndoC-BH3, after one h... | bioRxiv | bioRxiv : the preprint server for biology | 2025 Jun 12 | 2,025 | [
"Mulroney L",
"Taylor HJ",
"Lee A",
"Swift AJ",
"Zdravkov M",
"Bonnycastle LL",
"Brooks SY",
"Lee BN",
"Fitzgerald T",
"Narisu N",
"Biesecker LG",
"Erdos MR",
"Nicassio F",
"Birney E",
"Collins FS",
"Taylor DL"
] | Mulroney L | Taylor DL | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC12190750; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/40568065/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40562034 | 10.1016/j.stem.2025.06.002 | ChemPerturb-seq screen identifies a small molecule cocktail enhancing human beta cell survival after subcutaneous transplantation | Traditional chemical screens have focused on a single assay per screen, making them labor intensive and costly. Here, we combined a chemical screen with single-cell RNA sequencing (scRNA-seq) to perform Chemical Perturb-seq (ChemPerturb-seq), enabling a systematic analysis of the molecular changes of human beta cells u... | Cell Stem Cell | Cell stem cell | 2025 Aug 7 | 2,025 | [
"Vandana JJ",
"Zhu J",
"Giani AM",
"Zhang T",
"Lacko LA",
"Leng D",
"Taylor DL",
"Lee BN",
"Han Z",
"Jiao T",
"Huang Y",
"Zhao M",
"Liu X",
"Chong ACN",
"Xue D",
"Meng Z",
"Xiang JZ",
"Pan C",
"Wang W",
"Naji A",
"Evans T",
"Liu J",
"Collins FS",
"Liu C",
"Chen S"
] | Vandana JJ | Chen S | [
"Humans",
"Animals",
"Insulin-Secreting Cells",
"Mice",
"Female",
"Male",
"Islets of Langerhans Transplantation",
"Cell Survival",
"Small Molecule Libraries",
"Single-Cell Analysis",
"Sequence Analysis, RNA"
] | [
"Journal Article"
] | 32 | 8 | 1299-1307.e8 | pmc-id: PMC12335368;manuscript-id: NIHMS2088613; | 1934-5909 | eng | https://pubmed.ncbi.nlm.nih.gov/40562034/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
40480217 | 10.1016/j.xgen.2025.100915 | Extensive differential gene expression and regulation by sex in human skeletal muscle | The identification of sex-differential gene regulatory elements is essential for understanding sex-differential patterns of health and disease. We leveraged bulk and single-nucleus RNA sequencing (RNA-seq) and single-nucleus ATAC-seq data from 281 skeletal muscle biopsies to characterize sex differences in gene express... | Cell Genom | Cell genomics | 2025 Aug 13 | 2,025 | [
"Hanks SC",
"Mauger AS",
"Varshney A",
"Ciotlos DL",
"Manickam N",
"Narisu N",
"Shumway AJ",
"Orchard P",
"Erdos MR",
"Sweeney MD",
"Okamoto J",
"Jackson AU",
"Stringham HM",
"Bonnycastle LL",
"Zhou X",
"Lakka TA",
"Mohlke KL",
"Tuomilehto J",
"Laakso M",
"Boehnke M",
"Sethup... | Hanks SC | Scott LJ | [
"Humans",
"Male",
"Female",
"Muscle, Skeletal",
"RNA, Long Noncoding",
"Gene Expression Regulation",
"MicroRNAs",
"Sex Characteristics",
"Chromatin",
"Sex Factors"
] | [
"Journal Article"
] | 5 | 8 | 100915 | pmc-id: PMC12366654; | 2666-979X | eng | https://pubmed.ncbi.nlm.nih.gov/40480217/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
20301300 | null | Hutchinson-Gilford Progeria Syndrome | null | null | null | 1993 | 1,993 | [
"Adam MP",
"Bick S",
"Mirzaa GM",
"Pagon RA",
"Wallace SE",
"Amemiya A",
"Gordon LB",
"Brown WT",
"Collins FS"
] | Gordon LB | Collins FS | [] | [
"Review"
] | null | null | null | null | null | eng | https://pubmed.ncbi.nlm.nih.gov/20301300/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
39747594 | 10.1038/s41588-024-01982-6 | Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits | Complete characterization of the genetic effects on gene expression is needed to elucidate tissue biology and the etiology of complex traits. In the present study, we analyzed 2,344 subcutaneous adipose tissue samples and identified 34,774 conditionally distinct expression quantitative trait locus (eQTL) signals at 18,... | Nat Genet | Nature genetics | 2025 Jan | 2,025 | [
"Brotman SM",
"El-Sayed Moustafa JS",
"Guan L",
"Broadaway KA",
"Wang D",
"Jackson AU",
"Welch R",
"Currin KW",
"Tomlinson M",
"Vadlamudi S",
"Stringham HM",
"Roberts AL",
"Lakka TA",
"Oravilahti A",
"Fernandes Silva L",
"Narisu N",
"Erdos MR",
"Yan T",
"Bonnycastle LL",
"Raule... | Brotman SM | Scott LJ | [
"Quantitative Trait Loci",
"Humans",
"Genome-Wide Association Study",
"Gene Expression Regulation",
"Polymorphism, Single Nucleotide",
"Alleles",
"Adipose Tissue",
"Genetic Heterogeneity",
"Gene Frequency",
"Male",
"Cardiovascular Diseases"
] | [
"Journal Article",
"Meta-Analysis",
"Research Support, N.I.H., Extramural"
] | 57 | 1 | 180-192 | pmc-id: PMC12257492;manuscript-id: NIHMS2095871; | 1061-4036 | eng | https://pubmed.ncbi.nlm.nih.gov/39747594/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
39571160 | 10.14336/AD.2024.1094 | Normal Bone Matrix Mineralization but Altered Growth Plate Morphology in the Lmna(G609G/G609G) Mouse Model of Progeria | Hutchison-Gilford progeria syndrome (HGPS) is a rare genetic disease caused by a mutation in LMNA, the gene encoding A-type lamins, leading to premature aging with severely reduced life span. HGPS is characterized by growth deficiency, subcutaneous fat and muscle issues, wrinkled skin, alopecia, and atherosclerosis. Pa... | Aging Dis | Aging and disease | 2024 Nov 4 | 2,024 | [
"Blouin S",
"Hartmann MA",
"Fratzl-Zelman N",
"Messmer P",
"Whisenant D",
"Erdos MR",
"Collins FS",
"Eriksson M",
"Strandgren C",
"Cabral WA",
"Dechat T"
] | Blouin S | Dechat T | [
"Animals",
"Progeria",
"Disease Models, Animal",
"Mice",
"Lamin Type A",
"Growth Plate",
"Calcification, Physiologic",
"Bone Matrix",
"Bone Density",
"Male"
] | [
"Journal Article",
"Research Support, Non-U.S. Gov't",
"Research Support, N.I.H., Intramural"
] | 16 | 5 | 3204-3218 | pmc-id: PMC12339082; | 2152-5250 | eng | https://pubmed.ncbi.nlm.nih.gov/39571160/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
39568542 | 10.3389/fphys.2024.1481985 | Characterization of the craniofacial abnormalities of the homozygous G608G progeria mouse model | Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging, impacting multiple organ systems, including cardiovascular, musculoskeletal, and integumentary. Significant abnormalities in a transgenic mouse model (homozygous G608G mutation), specifically targeting the developm... | Front Physiol | Frontiers in physiology | 2024 | 2,024 | [
"Beeram I",
"Cubria MB",
"Kamalapathy P",
"Yeritsyan D",
"Dubose AJ",
"Razavi AH",
"Nafisi N",
"Erdos MR",
"Snyder BD",
"Cabral WA",
"Collins FS",
"Nazarian A"
] | Beeram I | Nazarian A | [] | [
"Journal Article"
] | 15 | null | 1481985 | pmc-id: PMC11576425; | 1664-042X | eng | https://pubmed.ncbi.nlm.nih.gov/39568542/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
39485830 | 10.1146/annurev-med-050223-111239 | Global Elimination of Hepatitis C Virus | Hepatitis C virus (HCV) is predominantly transmitted through parenteral exposures to infectious blood or body fluids. In 2019, approximately 58 million people worldwide were infected with HCV, and 290,000 deaths occurred due to hepatitis C-related conditions, despite hepatitis C being curable. There are substantial bar... | Annu Rev Med | Annual review of medicine | 2025 Jan | 2,025 | [
"Fleurence RL",
"Alter HJ",
"Collins FS",
"Ward JW"
] | Fleurence RL | Ward JW | [
"Humans",
"Global Health",
"Hepatitis C",
"Disease Eradication",
"World Health Organization",
"Hepacivirus",
"Antiviral Agents"
] | [
"Journal Article",
"Review",
"Research Support, Non-U.S. Gov't"
] | 76 | 1 | 29-41 | null | 0066-4219 | eng | https://pubmed.ncbi.nlm.nih.gov/39485830/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
39422121 | 10.1111/acel.14375 | Angiopoietin-2 reverses endothelial cell dysfunction in progeria vasculature | Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder in children caused by a point mutation in the lamin A gene, resulting in a toxic form of lamin A called progerin. Accelerated atherosclerosis leading to heart attack and stroke are the major causes of death in these patients. Endothelial cel... | Aging Cell | Aging cell | 2025 Feb | 2,025 | [
"Vakili S",
"Izydore EK",
"Losert L",
"Cabral WA",
"Tavarez UL",
"Shores K",
"Xue H",
"Erdos MR",
"Truskey GA",
"Collins FS",
"Cao K"
] | Vakili S | Cao K | [
"Angiopoietin-2",
"Animals",
"Humans",
"Progeria",
"Mice",
"Endothelial Cells",
"Cell Movement",
"Signal Transduction",
"Disease Models, Animal"
] | [
"Journal Article"
] | 24 | 2 | e14375 | pmc-id: PMC11822663; | 1474-9718 | eng | https://pubmed.ncbi.nlm.nih.gov/39422121/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
39280063 | 10.12688/wellcomeopenres.18754.1 | Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization | Genome-wide association studies for glycemic traits have identified hundreds of loci associated with these biomarkers of glucose homeostasis. Despite this success, the challenge remains to link variant associations to genes, and underlying biological pathways. To identify coding variant associations which may pinpoint ... | Wellcome Open Res | Wellcome open research | 2023 | 2,023 | [
"Willems SM",
"Ng NHJ",
"Fernandez J",
"Fine RS",
"Wheeler E",
"Wessel J",
"Kitajima H",
"Marenne G",
"Sim X",
"Yaghootkar H",
"Wang S",
"Chen S",
"Chen Y",
"Chen YI",
"Grarup N",
"Li-Gao R",
"Varga TV",
"Asimit JL",
"Feng S",
"Strawbridge RJ",
"Kleinbrink EL",
"Ahluwalia T... | Willems SM | Barroso I | [] | [
"Journal Article"
] | 8 | null | 483 | pmc-id: PMC11399760; | 2398-502X | eng | https://pubmed.ncbi.nlm.nih.gov/39280063/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
39228710 | 10.1101/2024.08.22.24312440 | Integrated clinical risk prediction of type 2 diabetes with a multifactorial polygenic risk score | Combining information from multiple GWASs for a disease and its risk factors has proven a powerful approach for development of polygenic risk scores (PRSs). This may be particularly useful for type 2 diabetes (T2D), a highly polygenic and heterogeneous disease where the additional predictive value of a PRS is unclear. ... | medRxiv | medRxiv : the preprint server for health sciences | 2024 Sep 23 | 2,024 | [
"Ritchie SC",
"Taylor HJ",
"Liang Y",
"Manikpurage HD",
"Pennells L",
"Foguet C",
"Abraham G",
"Gibson JT",
"Jiang X",
"Liu Y",
"Xu Y",
"Kim LG",
"Mahajan A",
"McCarthy MI",
"Kaptoge S",
"Lambert SA",
"Wood A",
"Sim X",
"Collins FS",
"Denny JC",
"Danesh J",
"Butterworth AS"... | Ritchie SC | Inouye M | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC11370520; | null | eng | https://pubmed.ncbi.nlm.nih.gov/39228710/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
39211333 | 10.1093/nargab/lqae115 | Progerin mRNA expression in non-HGPS patients is correlated with widespread shifts in transcript isoforms | Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disease caused primarily by a C1824T mutation in LMNA. This mutation activates a cryptic splice donor site, producing a lamin variant called progerin. Interestingly, progerin has also been detected in cells and tissues of non-HGPS patients. Here, we inves... | NAR Genom Bioinform | NAR genomics and bioinformatics | 2024 Sep | 2,024 | [
"Yu R",
"Xue H",
"Lin W",
"Collins FS",
"Mount SM",
"Cao K"
] | Yu R | Cao K | [] | [
"Journal Article"
] | 6 | 3 | lqae115 | pmc-id: PMC11358823; | 2631-9268 | eng | https://pubmed.ncbi.nlm.nih.gov/39211333/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
39005353 | 10.1101/2024.06.27.601062 | Scalable Hypothalamic Arcuate Neuron Differentiation from Human Pluripotent Stem Cells Suitable for Modeling Metabolic and Reproductive Disorders | The hypothalamus, composed of several nuclei, is essential for maintaining our body's homeostasis. The arcuate nucleus (ARC), located in the mediobasal hypothalamus, contains neuronal populations with eminent roles in energy and glucose homeostasis as well as reproduction. These neuronal populations are of great intere... | bioRxiv | bioRxiv : the preprint server for biology | 2024 Sep 20 | 2,024 | [
"Jovanovic VM",
"Narisu N",
"Bonnycastle LL",
"Tharakan R",
"Mesch KT",
"Glover HJ",
"Yan T",
"Sinha N",
"Sen C",
"Castellano D",
"Yang S",
"Blivis D",
"Ryu S",
"Bennett DF",
"Rosales-Soto G",
"Inman J",
"Ormanoglu P",
"LeClair CA",
"Xia M",
"Schneider M",
"Hernandez-Ochoa EO... | Jovanovic VM | Tristan CA | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC11244856; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/39005353/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
38967666 | 10.1007/s00125-024-06214-4 | Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 h | Disruption of pancreatic islet function and glucose homeostasis can lead to the development of sustained hyperglycaemia, beta cell glucotoxicity and subsequently type 2 diabetes. In this study, we explored the effects of in vitro hyperglycaemic conditions on human pancreatic islet gene expression across 24 h in six pan... | Diabetologia | Diabetologia | 2024 Oct | 2,024 | [
"Grenko CM",
"Taylor HJ",
"Bonnycastle LL",
"Xue D",
"Lee BN",
"Weiss Z",
"Yan T",
"Swift AJ",
"Mansell EC",
"Lee A",
"Robertson CC",
"Narisu N",
"Erdos MR",
"Chen S",
"Collins FS",
"Taylor DL"
] | Grenko CM | Taylor DL | [
"Humans",
"Islets of Langerhans",
"Glucose",
"Single-Cell Analysis",
"Gene Expression Profiling",
"Transcriptome",
"Diabetes Mellitus, Type 2",
"Insulin",
"Insulin-Secreting Cells",
"Hyperglycemia"
] | [
"Journal Article"
] | 67 | 10 | 2246-2259 | pmc-id: PMC11447040; | 0012-186X | eng | https://pubmed.ncbi.nlm.nih.gov/38967666/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
38791829 | 10.3390/ijerph21050615 | Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness | Congenital facial weakness (CFW) encompasses a heterogenous set of rare disorders presenting with decreased facial movement from birth, secondary to impaired function of the facial musculature. The aim of the present study is to provide an analysis of subject-reported oral health-related quality of life (OHRQoL) in con... | Int J Environ Res Public Health | International journal of environmental research and public health | 2024 May 13 | 2,024 | [
"Liberton DK",
"Almpani K",
"Mishra R",
"Bassim C",
"Van Ryzin C",
"On Behalf Of The Moebius Syndrome Research Consortium",
"Webb BD",
"Jabs EW",
"Engle EC",
"Collins FS",
"Manoli I",
"Lee JS"
] | Liberton DK | Lee JS | [
"Humans",
"Quality of Life",
"Male",
"Female",
"Oral Health",
"Adult",
"Young Adult",
"Adolescent",
"Child",
"Middle Aged",
"Facial Paralysis",
"Case-Control Studies",
"Rare Diseases"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, N.I.H., Intramural"
] | 21 | 5 | null | pmc-id: PMC11121611; | 1661-7827 | eng | https://pubmed.ncbi.nlm.nih.gov/38791829/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
38513679 | 10.1016/S0140-6736(24)00477-X | Music and medicine: quickening the tempo of progress | null | Lancet | Lancet (London, England) | 2024 Mar 30 | 2,024 | [
"Chen WG",
"Edwards E",
"Iyengar S",
"Finkelstein R",
"Rutter DF",
"Fleming R",
"Collins FS"
] | Chen WG | Collins FS | [
"Humans",
"Music",
"Heart Rate",
"Fetal Movement",
"Medicine"
] | [
"Journal Article"
] | 403 | 10433 | 1213-1215 | null | 0140-6736 | eng | https://pubmed.ncbi.nlm.nih.gov/38513679/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
38374256 | 10.1038/s41586-024-07019-6 | Genetic drivers of heterogeneity in type 2 diabetes pathophysiology | Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes1,2 and molecular mechanisms that are often specific to cell type3,4. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from ... | Nature | Nature | 2024 Mar | 2,024 | [
"Suzuki K",
"Hatzikotoulas K",
"Southam L",
"Taylor HJ",
"Yin X",
"Lorenz KM",
"Mandla R",
"Huerta-Chagoya A",
"Melloni GEM",
"Kanoni S",
"Rayner NW",
"Bocher O",
"Arruda AL",
"Sonehara K",
"Namba S",
"Lee SSK",
"Preuss MH",
"Petty LE",
"Schroeder P",
"Vanderwerff B",
"Kals M... | Suzuki K | Zeggini E | [
"Humans",
"Adipocytes",
"Chromatin",
"Coronary Artery Disease",
"Diabetes Mellitus, Type 2",
"Diabetic Nephropathies",
"Disease Progression",
"Endothelial Cells",
"Enteroendocrine Cells",
"Epigenomics",
"Genetic Predisposition to Disease",
"Genome-Wide Association Study",
"Islets of Langerha... | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 627 | 8003 | 347-357 | pmc-id: PMC10937372; | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/38374256/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
38353623 | 10.1089/crispr.2023.0066 | Generation of Human Isogenic Induced Pluripotent Stem Cell Lines with CRISPR Prime Editing | We developed an efficient CRISPR prime editing protocol and generated isogenic-induced pluripotent stem cell (iPSC) lines carrying heterozygous or homozygous alleles for putatively causal single nucleotide variants at six type 2 diabetes loci (ABCC8, MTNR1B, TCF7L2, HNF4A, CAMK1D, and GCK). Our two-step sequence-based ... | CRISPR J | The CRISPR journal | 2024 Feb | 2,024 | [
"Bonnycastle LL",
"Swift AJ",
"Mansell EC",
"Lee A",
"Winnicki E",
"Li ES",
"Robertson CC",
"Parsons VA",
"Huynh T",
"Krilow C",
"Mohlke KL",
"Erdos MR",
"Narisu N",
"Collins FS"
] | Bonnycastle LL | Collins FS | [
"Humans",
"Clustered Regularly Interspaced Short Palindromic Repeats",
"Diabetes Mellitus, Type 2",
"Induced Pluripotent Stem Cells",
"CRISPR-Cas Systems",
"Gene Editing",
"RNA, Guide, CRISPR-Cas Systems"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, N.I.H., Intramural"
] | 7 | 1 | 53-67 | pmc-id: PMC10880268; | 2573-1599 | eng | https://pubmed.ncbi.nlm.nih.gov/38353623/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
38168419 | 10.1101/2023.12.15.571696 | Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation | Skeletal muscle, the largest human organ by weight, is relevant in several polygenic metabolic traits and diseases including type 2 diabetes (T2D). Identifying genetic mechanisms underlying these traits requires pinpointing cell types, regulatory elements, target genes, and causal variants. Here, we use genetic multipl... | bioRxiv | bioRxiv : the preprint server for biology | 2024 Dec 17 | 2,024 | [
"Varshney A",
"Manickam N",
"Orchard P",
"Tovar A",
"Ventresca C",
"Zhang Z",
"Feng F",
"Mears J",
"Erdos MR",
"Narisu N",
"Nishino K",
"Rai V",
"Stringham HM",
"Jackson AU",
"Tamsen T",
"Gao C",
"Yang M",
"Koues OI",
"Welch JD",
"Burant CF",
"Williams LK",
"Jenkinson C",
... | Varshney A | Parker SCJ | [] | [
"Journal Article",
"Preprint"
] | null | null | null | pmc-id: PMC10760134; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/38168419/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37961277 | 10.1101/2023.10.26.563798 | Adipose tissue eQTL meta-analysis reveals the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits | Complete characterization of the genetic effects on gene expression is needed to elucidate tissue biology and the etiology of complex traits. Here, we analyzed 2,344 subcutaneous adipose tissue samples and identified 34K conditionally distinct expression quantitative trait locus (eQTL) signals in 18K genes. Over half o... | bioRxiv | bioRxiv : the preprint server for biology | 2023 Oct 27 | 2,023 | [
"Brotman SM",
"El-Sayed Moustafa JS",
"Guan L",
"Broadaway KA",
"Wang D",
"Jackson AU",
"Welch R",
"Currin KW",
"Tomlinson M",
"Vadlamudi S",
"Stringham HM",
"Roberts AL",
"Lakka TA",
"Oravilahti A",
"Silva LF",
"Narisu N",
"Erdos MR",
"Yan T",
"Bonnycastle LL",
"Raulerson CK",... | Brotman SM | Scott LJ | [] | [
"Preprint",
"Journal Article"
] | null | null | null | pmc-id: PMC10634839; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/37961277/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37858332 | 10.1016/j.cmet.2023.09.013 | Functional interrogation of twenty type 2 diabetes-associated genes using isogenic human embryonic stem cell-derived β-like cells | Genetic studies have identified numerous loci associated with type 2 diabetes (T2D), but the functional roles of many loci remain unexplored. Here, we engineered isogenic knockout human embryonic stem cell lines for 20 genes associated with T2D risk. We examined the impacts of each knockout on β cell differentiation, f... | Cell Metab | Cell metabolism | 2023 Nov 7 | 2,023 | [
"Xue D",
"Narisu N",
"Taylor DL",
"Zhang M",
"Grenko C",
"Taylor HJ",
"Yan T",
"Tang X",
"Sinha N",
"Zhu J",
"Vandana JJ",
"Nok Chong AC",
"Lee A",
"Mansell EC",
"Swift AJ",
"Erdos MR",
"Zhong A",
"Bonnycastle LL",
"Zhou T",
"Chen S",
"Collins FS"
] | Xue D | Collins FS | [
"Humans",
"Diabetes Mellitus, Type 2",
"Human Embryonic Stem Cells",
"Genetic Predisposition to Disease",
"Genome-Wide Association Study",
"Insulin-Secreting Cells",
"Polymorphism, Single Nucleotide",
"Carbonyl Reductase (NADPH)"
] | [
"Journal Article",
"Research Support, N.I.H., Intramural",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 35 | 11 | 1897-1914.e11 | pmc-id: PMC10841752;manuscript-id: NIHMS1936895; | 1550-4131 | eng | https://pubmed.ncbi.nlm.nih.gov/37858332/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37668623 | 10.1001/jama.2023.11763 | US Hepatitis C Elimination Plan-Reply | null | JAMA | JAMA | 2023 Sep 5 | 2,023 | [
"Fleurence RL",
"Collins FS"
] | Fleurence RL | Collins FS | [
"Humans",
"Disease Eradication",
"Hepacivirus",
"Hepatitis C",
"United States"
] | [
"Letter",
"Comment"
] | 330 | 9 | 878 | null | 0098-7484 | eng | https://pubmed.ncbi.nlm.nih.gov/37668623/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37603758 | 10.1073/pnas.2206612120 | Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits | Genetic association studies have identified hundreds of independent signals associated with type 2 diabetes (T2D) and related traits. Despite these successes, the identification of specific causal variants underlying a genetic association signal remains challenging. In this study, we describe a deep learning (DL) metho... | Proc Natl Acad Sci U S A | Proceedings of the National Academy of Sciences of the United States of America | 2023 Aug 29 | 2,023 | [
"Hudaiberdiev S",
"Taylor DL",
"Song W",
"Narisu N",
"Bhuiyan RM",
"Taylor HJ",
"Tang X",
"Yan T",
"Swift AJ",
"Bonnycastle LL",
"Consortium D",
"Chen S",
"Stitzel ML",
"Erdos MR",
"Ovcharenko I",
"Collins FS"
] | Hudaiberdiev S | Collins FS | [
"Diabetes Mellitus, Type 2",
"Deep Learning",
"Enhancer Elements, Genetic",
"Islets of Langerhans",
"Genetic Variation",
"Humans",
"Computer Simulation"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, N.I.H., Intramural",
"Research Support, U.S. Gov't, Non-P.H.S."
] | 120 | 35 | e2206612120 | pmc-id: PMC10469333; | 0027-8424 | eng | https://pubmed.ncbi.nlm.nih.gov/37603758/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37386251 | 10.1038/s41588-023-01424-9 | Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis | Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from heterozygous duplica... | Nat Genet | Nature genetics | 2023 Jul | 2,023 | [
"Tenney AP",
"Di Gioia SA",
"Webb BD",
"Chan WM",
"de Boer E",
"Garnai SJ",
"Barry BJ",
"Ray T",
"Kosicki M",
"Robson CD",
"Zhang Z",
"Collins TE",
"Gelber A",
"Pratt BM",
"Fujiwara Y",
"Varshney A",
"Lek M",
"Warburton PE",
"Van Ryzin C",
"Lehky TJ",
"Zalewski C",
"King KA... | Tenney AP | Engle EC | [
"Animals",
"Mice",
"Facial Paralysis",
"GATA2 Transcription Factor",
"Motor Neurons",
"Neurogenesis",
"Neurons, Efferent"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, N.I.H., Intramural",
"Research Support, Non-U.S. Gov't",
"Research Support, U.S. Gov't, Non-P.H.S."
] | 55 | 7 | 1149-1163 | pmc-id: PMC10335940; | 1061-4036 | eng | https://pubmed.ncbi.nlm.nih.gov/37386251/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37365004 | 10.1111/acel.13903 | Bone dysplasia in Hutchinson-Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populations | Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder affecting tissues of mesenchymal origin. Most individuals with HGPS harbor a de novo c.1824C > T (p.G608G) mutation in the gene encoding lamin A (LMNA), which activates a cryptic splice donor site resulting in production of the toxic "progerin" p... | Aging Cell | Aging cell | 2023 Sep | 2,023 | [
"Cabral WA",
"Stephan C",
"Terajima M",
"Thaivalappil AA",
"Blanchard O",
"Tavarez UL",
"Narisu N",
"Yan T",
"Wincovitch SM",
"Taga Y",
"Yamauchi M",
"Kozloff KM",
"Erdos MR",
"Collins FS"
] | Cabral WA | Collins FS | [
"Mice",
"Animals",
"Progeria",
"Aging, Premature",
"Mutation",
"Lamin Type A",
"Cell Differentiation",
"Bone Diseases, Developmental"
] | [
"Journal Article",
"Research Support, Non-U.S. Gov't",
"Research Support, N.I.H., Extramural",
"Research Support, N.I.H., Intramural"
] | 22 | 9 | e13903 | pmc-id: PMC10497813; | 1474-9718 | eng | https://pubmed.ncbi.nlm.nih.gov/37365004/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37333221 | 10.1101/2023.06.06.543931 | Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 hours | Disruption of pancreatic islet function and glucose homeostasis can lead to the development of sustained hyperglycemia, beta cell glucotoxicity, and ultimately type 2 diabetes (T2D). In this study, we sought to explore the effects of hyperglycemia on human pancreatic islet (HPI) gene expression by exposing HPIs from tw... | bioRxiv | bioRxiv : the preprint server for biology | 2023 Jul 17 | 2,023 | [
"Grenko CM",
"Bonnycastle LL",
"Taylor HJ",
"Yan T",
"Swift AJ",
"Robertson CC",
"Narisu N",
"Erdos MR",
"Collins FS",
"Taylor DL"
] | Grenko CM | Taylor DL | [] | [
"Preprint",
"Journal Article"
] | null | null | null | pmc-id: PMC10274787; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/37333221/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37291194 | 10.1038/s41588-023-01408-9 | Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake | Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Previous genetic studies have largely focused on insulin resistance in the fasting state, where hepatic insulin action dominates. Here we studied genetic variants influencing insulin levels measured 2 h after a glucose challe... | Nat Genet | Nature genetics | 2023 Jun | 2,023 | [
"Williamson A",
"Norris DM",
"Yin X",
"Broadaway KA",
"Moxley AH",
"Vadlamudi S",
"Wilson EP",
"Jackson AU",
"Ahuja V",
"Andersen MK",
"Arzumanyan Z",
"Bonnycastle LL",
"Bornstein SR",
"Bretschneider MP",
"Buchanan TA",
"Chang YC",
"Chuang LM",
"Chung RH",
"Clausen TD",
"Damm P... | Williamson A | Langenberg C | [
"Humans",
"Insulin",
"Genome-Wide Association Study",
"Insulin Resistance",
"Diabetes Mellitus, Type 2",
"Glucose",
"Blood Glucose"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 55 | 6 | 973-983 | pmc-id: PMC7614755;manuscript-id: EMS178611; | 1061-4036 | eng | https://pubmed.ncbi.nlm.nih.gov/37291194/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37214922 | 10.1101/2023.05.07.539774 | Functional interrogation of twenty type 2 diabetes-associated genes using isogenic hESC-derived β-like cells | Genetic studies have identified numerous loci associated with type 2 diabetes (T2D), but the functional role of many loci has remained unexplored. In this study, we engineered isogenic knockout human embryonic stem cell (hESC) lines for 20 genes associated with T2D risk. We systematically examined β-cell differentiatio... | bioRxiv | bioRxiv : the preprint server for biology | 2023 May 8 | 2,023 | [
"Xue D",
"Narisu N",
"Taylor DL",
"Zhang M",
"Grenko C",
"Taylor HJ",
"Yan T",
"Tang X",
"Sinha N",
"Zhu J",
"Vandana JJ",
"Chong ACN",
"Lee A",
"Mansell EC",
"Swift AJ",
"Erdos MR",
"Zhou T",
"Bonnycastle LL",
"Zhong A",
"Chen S",
"Collins FS"
] | Xue D | Collins FS | [] | [
"Preprint",
"Journal Article"
] | null | null | null | pmc-id: PMC10197532; | 2692-8205 | eng | https://pubmed.ncbi.nlm.nih.gov/37214922/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
37034649 | 10.1101/2023.03.31.23287839 | Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications | Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes. To characterise the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study (GWAS) data from 2,535,601 individuals (39.7% non-European ancestry), including 428,... | medRxiv | medRxiv : the preprint server for health sciences | 2023 Mar 31 | 2,023 | [
"Suzuki K",
"Hatzikotoulas K",
"Southam L",
"Taylor HJ",
"Yin X",
"Lorenz KM",
"Mandla R",
"Huerta-Chagoya A",
"Rayner NW",
"Bocher O",
"Arruda ALSV",
"Sonehara K",
"Namba S",
"Lee SSK",
"Preuss MH",
"Petty LE",
"Schroeder P",
"Vanderwerff B",
"Kals M",
"Bragg F",
"Lin K",
... | Suzuki K | Zeggini E | [] | [
"Preprint",
"Journal Article"
] | null | null | null | pmc-id: PMC10081410; | null | eng | https://pubmed.ncbi.nlm.nih.gov/37034649/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
36892976 | 10.1001/jama.2023.3692 | A National Hepatitis C Elimination Program in the United States: A Historic Opportunity | null | JAMA | JAMA | 2023 Apr 18 | 2,023 | [
"Fleurence RL",
"Collins FS"
] | Fleurence RL | Collins FS | [
"Humans",
"Antiviral Agents",
"Hepacivirus",
"Hepatitis C",
"Hepatitis C, Chronic",
"United States",
"Disease Eradication"
] | [
"Journal Article"
] | 329 | 15 | 1251-1252 | null | 0098-7484 | eng | https://pubmed.ncbi.nlm.nih.gov/36892976/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
36757889 | 10.1073/pnas.2206797120 | Human pancreatic islet microRNAs implicated in diabetes and related traits by large-scale genetic analysis | Genetic studies have identified ≥240 loci associated with the risk of type 2 diabetes (T2D), yet most of these loci lie in non-coding regions, masking the underlying molecular mechanisms. Recent studies investigating mRNA expression in human pancreatic islets have yielded important insights into the molecular drivers o... | Proc Natl Acad Sci U S A | Proceedings of the National Academy of Sciences of the United States of America | 2023 Feb 14 | 2,023 | [
"Taylor HJ",
"Hung YH",
"Narisu N",
"Erdos MR",
"Kanke M",
"Yan T",
"Grenko CM",
"Swift AJ",
"Bonnycastle LL",
"Sethupathy P",
"Collins FS",
"Taylor DL"
] | Taylor HJ | Taylor DL | [
"Humans",
"MicroRNAs",
"Diabetes Mellitus, Type 2",
"Glycated Hemoglobin",
"Islets of Langerhans",
"Quantitative Trait Loci"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 120 | 7 | e2206797120 | pmc-id: PMC9963967; | 0027-8424 | eng | https://pubmed.ncbi.nlm.nih.gov/36757889/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
36639235 | 10.1212/WNL.0000000000206797 | NIH Music-Based Intervention Toolkit: Music-Based Interventions for Brain Disorders of Aging | Music-based interventions (MBIs) show promise for managing symptoms of various brain disorders. To fully realize the potential of MBIs and dispel the outdated misconception that MBIs are rooted in soft science, the NIH is promoting rigorously designed, well-powered MBI clinical trials. The pressing need of guidelines f... | Neurology | Neurology | 2023 May 2 | 2,023 | [
"Edwards E",
"St Hillaire-Clarke C",
"Frankowski DW",
"Finkelstein R",
"Cheever T",
"Chen WG",
"Onken L",
"Poremba A",
"Riddle R",
"Schloesser D",
"Burgdorf CE",
"Wells N",
"Fleming R",
"Collins FS"
] | Edwards E | Collins FS | [
"Humans",
"Music",
"Mindfulness",
"Brain Diseases",
"Data Collection",
"Aging"
] | [
"Journal Article"
] | 100 | 18 | 868-878 | pmc-id: PMC10159759; | 0028-3878 | eng | https://pubmed.ncbi.nlm.nih.gov/36639235/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
36224396 | 10.1038/s41586-022-05275-y | A saturated map of common genetic variants associated with human height | Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancest... | Nature | Nature | 2022 Oct | 2,022 | [
"Yengo L",
"Vedantam S",
"Marouli E",
"Sidorenko J",
"Bartell E",
"Sakaue S",
"Graff M",
"Eliasen AU",
"Jiang Y",
"Raghavan S",
"Miao J",
"Arias JD",
"Graham SE",
"Mukamel RE",
"Spracklen CN",
"Yin X",
"Chen SH",
"Ferreira T",
"Highland HH",
"Ji Y",
"Karaderi T",
"Lin K",
... | Yengo L | Hirschhorn JN | [
"Humans",
"Body Height",
"Gene Frequency",
"Genome, Human",
"Genome-Wide Association Study",
"Haplotypes",
"Linkage Disequilibrium",
"Polymorphism, Single Nucleotide",
"Europe",
"Sample Size",
"Phenotype",
"Chromosome Mapping"
] | [
"Journal Article",
"Research Support, N.I.H., Extramural",
"Research Support, Non-U.S. Gov't"
] | 610 | 7933 | 704-712 | pmc-id: PMC9605867; | 0028-0836 | eng | https://pubmed.ncbi.nlm.nih.gov/36224396/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
36071172 | 10.1038/s41588-022-01165-1 | Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention | Although physical activity and sedentary behavior are moderately heritable, little is known about the mechanisms that influence these traits. Combining data for up to 703,901 individuals from 51 studies in a multi-ancestry meta-analysis of genome-wide association studies yields 99 loci that associate with self-reported... | Nat Genet | Nature genetics | 2022 Sep | 2,022 | [
"Wang Z",
"Emmerich A",
"Pillon NJ",
"Moore T",
"Hemerich D",
"Cornelis MC",
"Mazzaferro E",
"Broos S",
"Ahluwalia TS",
"Bartz TM",
"Bentley AR",
"Bielak LF",
"Chong M",
"Chu AY",
"Berry D",
"Dorajoo R",
"Dueker ND",
"Kasbohm E",
"Feenstra B",
"Feitosa MF",
"Gieger C",
"Gra... | Wang Z | Hoed MD | [
"Actinin",
"Cross-Sectional Studies",
"Exercise",
"Genome-Wide Association Study",
"Humans",
"Leisure Activities",
"Sedentary Behavior"
] | [
"Journal Article",
"Meta-Analysis",
"Research Support, Non-U.S. Gov't",
"Research Support, U.S. Gov't, Non-P.H.S.",
"Research Support, N.I.H., Extramural"
] | 54 | 9 | 1332-1344 | pmc-id: PMC9470530; | 1061-4036 | eng | https://pubmed.ncbi.nlm.nih.gov/36071172/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
36055244 | 10.1016/j.ajhg.2022.08.007 | Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk | Transcriptomics data have been integrated with genome-wide association studies (GWASs) to help understand disease/trait molecular mechanisms. The utility of metabolomics, integrated with transcriptomics and disease GWASs, to understand molecular mechanisms for metabolite levels or diseases has not been thoroughly evalu... | Am J Hum Genet | American journal of human genetics | 2022 Oct 6 | 2,022 | [
"Yin X",
"Bose D",
"Kwon A",
"Hanks SC",
"Jackson AU",
"Stringham HM",
"Welch R",
"Oravilahti A",
"Fernandes Silva L",
"FinnGen",
"Locke AE",
"Fuchsberger C",
"Service SK",
"Erdos MR",
"Bonnycastle LL",
"Kuusisto J",
"Stitziel NO",
"Hall IM",
"Morrison J",
"Ripatti S",
"Palot... | Yin X | Wen X | [
"Bilirubin",
"Carnitine",
"Genome-Wide Association Study",
"Glycerophospholipids",
"Humans",
"Male",
"Metabolomics",
"Quantitative Trait Loci",
"Solute Carrier Family 22 Member 5",
"Transcriptome"
] | [
"Journal Article",
"Research Support, Non-U.S. Gov't",
"Research Support, N.I.H., Extramural",
"Research Support, N.I.H., Intramural"
] | 109 | 10 | 1727-1741 | pmc-id: PMC9606383; | 0002-9297 | eng | https://pubmed.ncbi.nlm.nih.gov/36055244/ | hLMGLEHQAy1HfdBah | EMeUGOgXRpCAqy5ah |
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