Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

122 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Stro… See abstract for full author list ➔ Goodrich JK, et al. Among authors: son r. Nat Commun. 2021 Jun 9;12(1):3505. doi: 10.1038/s41467-021-23556-4. Nat Commun. 2021. PMID: 34108472 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby EG, England E, Wood JC, Son RG, Watts NA, Karczewski KJ, Harrison SM, MacArthur DG, Rehm HL, O'Donnell-Luria A. Singer-Berk M, et al. medRxiv [Preprint]. 2023 Mar 9:2023.03.08.23286955. doi: 10.1101/2023.03.08.23286955. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Sep 7;110(9):1496-1508. doi: 10.1016/j.ajhg.2023.08.005 PMID: 36945502 Free PMC article. Updated. Preprint.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1. Nat Med. 2024. PMID: 37429925 No abstract available.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby EG, England E, Wood JC, Son RG, Watts NA, Karczewski KJ, Harrison SM, MacArthur DG, Rehm HL, O'Donnell-Luria A. Singer-Berk M, et al. Am J Hum Genet. 2023 Sep 7;110(9):1496-1508. doi: 10.1016/j.ajhg.2023.08.005. Epub 2023 Aug 25. Am J Hum Genet. 2023. PMID: 37633279 Free PMC article.
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.
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. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664 Free PMC article.
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. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Among authors: son rg. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381 Free PMC article.
122 results