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Year Number of Results
1950 1
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1952 4
1953 2
1954 1
1955 1
1956 1
1957 1
1958 2
1960 1
1961 1
1963 1
1965 2
1969 4
1970 4
1972 6
1973 2
1974 3
1975 6
1976 6
1977 9
1978 4
1979 9
1980 9
1981 8
1982 5
1983 10
1984 8
1985 6
1986 10
1987 7
1988 8
1989 8
1990 7
1991 8
1992 6
1993 9
1994 3
1995 2
1996 5
1997 2
1998 4
1999 3
2000 3
2001 2
2002 7
2003 2
2004 4
2005 1
2006 1
2007 1
2008 5
2009 4
2010 2
2011 4
2012 1
2014 5
2015 1
2016 1
2017 4
2018 2
2020 8
2021 9
2022 4
2023 7
2024 9

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281 results

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Page 1
The mutational constraint spectrum quantified from variation in 141,456 humans.
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME; Genome Aggregation Database Consortium; Neale BM, Daly MJ, MacArthur DG. Karczewski KJ, et al. Among authors: wade g. Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27. Nature. 2020. PMID: 32461654 Free PMC article.
A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
Patent Foramen Ovale Closure or Antiplatelet Therapy for Cryptogenic Stroke.
Søndergaard L, Kasner SE, Rhodes JF, Andersen G, Iversen HK, Nielsen-Kudsk JE, Settergren M, Sjöstrand C, Roine RO, Hildick-Smith D, Spence JD, Thomassen L; Gore REDUCE Clinical Study Investigators. Søndergaard L, et al. N Engl J Med. 2017 Sep 14;377(11):1033-1042. doi: 10.1056/NEJMoa1707404. N Engl J Med. 2017. PMID: 28902580 Free article. Clinical Trial.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Among authors: wade g. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443 Free PMC article.
Lipid Transport in Brown Adipocyte Thermogenesis.
Wade G, McGahee A, Ntambi JM, Simcox J. Wade G, et al. Front Physiol. 2021 Dec 23;12:787535. doi: 10.3389/fphys.2021.787535. eCollection 2021. Front Physiol. 2021. PMID: 35002769 Free PMC article. Review.
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Among authors: wade g. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
Protein restriction slows the development and progression of pathology in a mouse model of Alzheimer's disease.
Babygirija R, Sonsalla MM, Mill J, James I, Han JH, Green CL, Calubag MF, Wade G, Tobon A, Michael J, Trautman MM, Matoska R, Yeh CY, Grunow I, Pak HH, Rigby MJ, Baldwin DA, Niemi NM, Denu JM, Puglielli L, Simcox J, Lamming DW. Babygirija R, et al. Among authors: wade g. Nat Commun. 2024 Jun 18;15(1):5217. doi: 10.1038/s41467-024-49589-z. Nat Commun. 2024. PMID: 38890307 Free PMC article.
Evaluating drug targets through human loss-of-function genetic variation.
Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alföldi J, Trembath RC, van Heel DA, Daly MJ; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Schreiber SL, MacArthur DG. Minikel EV, et al. Nature. 2020 May;581(7809):459-464. doi: 10.1038/s41586-020-2267-z. Epub 2020 May 27. Nature. 2020. PMID: 32461653 Free PMC article.
Neuroendocrinology of nutritional infertility.
Wade GN, Jones JE. Wade GN, et al. Am J Physiol Regul Integr Comp Physiol. 2004 Dec;287(6):R1277-96. doi: 10.1152/ajpregu.00475.2004. Am J Physiol Regul Integr Comp Physiol. 2004. PMID: 15528398 Free article. Review.
281 results