310 related articles for article (PubMed ID: 35917817)
1. A cross-disorder dosage sensitivity map of the human genome.
Collins RL; Glessner JT; Porcu E; Lepamets M; Brandon R; Lauricella C; Han L; Morley T; Niestroj LM; Ulirsch J; Everett S; Howrigan DP; Boone PM; Fu J; Karczewski KJ; Kellaris G; Lowther C; Lucente D; Mohajeri K; Nõukas M; Nuttle X; Samocha KE; Trinh M; Ullah F; Võsa U; ; ; Hurles ME; Aradhya S; Davis EE; Finucane H; Gusella JF; Janze A; Katsanis N; Matyakhina L; Neale BM; Sanders D; Warren S; Hodge JC; Lal D; Ruderfer DM; Meck J; Mägi R; Esko T; Reymond A; Kutalik Z; Hakonarson H; Sunyaev S; Brand H; Talkowski ME
Cell; 2022 Aug; 185(16):3041-3055.e25. PubMed ID: 35917817
[TBL] [Abstract][Full Text] [Related]
2. The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.
Petrovski S; Gussow AB; Wang Q; Halvorsen M; Han Y; Weir WH; Allen AS; Goldstein DB
PLoS Genet; 2015 Sep; 11(9):e1005492. PubMed ID: 26332131
[TBL] [Abstract][Full Text] [Related]
3. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Riggs ER; Nelson T; Merz A; Ackley T; Bunke B; Collins CD; Collinson MN; Fan YS; Goodenberger ML; Golden DM; Haglund-Hazy L; Krgovic D; Lamb AN; Lewis Z; Li G; Liu Y; Meck J; Neufeld-Kaiser W; Runke CK; Sanmann JN; Stavropoulos DJ; Strong E; Su M; Tayeh MK; Kokalj Vokac N; Thorland EC; Andersen E; Martin CL
Hum Mutat; 2018 Nov; 39(11):1650-1659. PubMed ID: 30095202
[TBL] [Abstract][Full Text] [Related]
4. Dosage-sensitive genes in evolution and disease.
Rice AM; McLysaght A
BMC Biol; 2017 Sep; 15(1):78. PubMed ID: 28863777
[TBL] [Abstract][Full Text] [Related]
5. Why haploinsufficiency persists.
Morrill SA; Amon A
Proc Natl Acad Sci U S A; 2019 Jun; 116(24):11866-11871. PubMed ID: 31142641
[TBL] [Abstract][Full Text] [Related]
6. Ohnologs are overrepresented in pathogenic copy number mutations.
McLysaght A; Makino T; Grayton HM; Tropeano M; Mitchell KJ; Vassos E; Collier DA
Proc Natl Acad Sci U S A; 2014 Jan; 111(1):361-6. PubMed ID: 24368850
[TBL] [Abstract][Full Text] [Related]
7. Dosage sensitivity shapes the evolution of copy-number varied regions.
Schuster-Böckler B; Conrad D; Bateman A
PLoS One; 2010 Mar; 5(3):e9474. PubMed ID: 20224824
[TBL] [Abstract][Full Text] [Related]
8. Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.
Newman S; Hermetz KE; Weckselblatt B; Rudd MK
Am J Hum Genet; 2015 Feb; 96(2):208-20. PubMed ID: 25640679
[TBL] [Abstract][Full Text] [Related]
9. Large multiallelic copy number variations in humans.
Handsaker RE; Van Doren V; Berman JR; Genovese G; Kashin S; Boettger LM; McCarroll SA
Nat Genet; 2015 Mar; 47(3):296-303. PubMed ID: 25621458
[TBL] [Abstract][Full Text] [Related]
10. Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Huguet G; Schramm C; Douard E; Tamer P; Main A; Monin P; England J; Jizi K; Renne T; Poirier M; Nowak S; Martin CO; Younis N; Knoth IS; Jean-Louis M; Saci Z; Auger M; Tihy F; Mathonnet G; Maftei C; Léveillé F; Porteous D; Davies G; Redmond P; Harris SE; Hill WD; Lemyre E; Schumann G; Bourgeron T; Pausova Z; Paus T; Karama S; Lippe S; Deary IJ; Almasy L; Labbe A; Glahn D; Greenwood CMT; Jacquemont S
Mol Psychiatry; 2021 Jun; 26(6):2663-2676. PubMed ID: 33414497
[TBL] [Abstract][Full Text] [Related]
11. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
Lesch KP; Selch S; Renner TJ; Jacob C; Nguyen TT; Hahn T; Romanos M; Walitza S; Shoichet S; Dempfle A; Heine M; Boreatti-Hümmer A; Romanos J; Gross-Lesch S; Zerlaut H; Wultsch T; Heinzel S; Fassnacht M; Fallgatter A; Allolio B; Schäfer H; Warnke A; Reif A; Ropers HH; Ullmann R
Mol Psychiatry; 2011 May; 16(5):491-503. PubMed ID: 20308990
[TBL] [Abstract][Full Text] [Related]
12. Genome-wide deserts for copy number variation in vertebrates.
Makino T; McLysaght A; Kawata M
Nat Commun; 2013; 4():2283. PubMed ID: 23917329
[TBL] [Abstract][Full Text] [Related]
13. Rare copy number variants are a common cause of short stature.
Zahnleiter D; Uebe S; Ekici AB; Hoyer J; Wiesener A; Wieczorek D; Kunstmann E; Reis A; Doerr HG; Rauch A; Thiel CT
PLoS Genet; 2013; 9(3):e1003365. PubMed ID: 23516380
[TBL] [Abstract][Full Text] [Related]
14. Mapping copy number variation by population-scale genome sequencing.
Mills RE; Walter K; Stewart C; Handsaker RE; Chen K; Alkan C; Abyzov A; Yoon SC; Ye K; Cheetham RK; Chinwalla A; Conrad DF; Fu Y; Grubert F; Hajirasouliha I; Hormozdiari F; Iakoucheva LM; Iqbal Z; Kang S; Kidd JM; Konkel MK; Korn J; Khurana E; Kural D; Lam HY; Leng J; Li R; Li Y; Lin CY; Luo R; Mu XJ; Nemesh J; Peckham HE; Rausch T; Scally A; Shi X; Stromberg MP; Stütz AM; Urban AE; Walker JA; Wu J; Zhang Y; Zhang ZD; Batzer MA; Ding L; Marth GT; McVean G; Sebat J; Snyder M; Wang J; Ye K; Eichler EE; Gerstein MB; Hurles ME; Lee C; McCarroll SA; Korbel JO;
Nature; 2011 Feb; 470(7332):59-65. PubMed ID: 21293372
[TBL] [Abstract][Full Text] [Related]
15. Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.
Thaxton C; Good ME; DiStefano MT; Luo X; Andersen EF; Thorland E; Berg J; Martin CL; Rehm HL; Riggs ER; ;
Hum Mutat; 2022 Aug; 43(8):1031-1040. PubMed ID: 34694049
[TBL] [Abstract][Full Text] [Related]
16. A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.
Marotta M; Chen X; Inoshita A; Stephens R; Budd GT; Crowe JP; Lyons J; Kondratova A; Tubbs R; Tanaka H
Breast Cancer Res; 2012 Nov; 14(6):R150. PubMed ID: 23181561
[TBL] [Abstract][Full Text] [Related]
17. Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
Huguet G; Schramm C; Douard E; Jiang L; Labbe A; Tihy F; Mathonnet G; Nizard S; Lemyre E; Mathieu A; Poline JB; Loth E; Toro R; Schumann G; Conrod P; Pausova Z; Greenwood C; Paus T; Bourgeron T; Jacquemont S;
JAMA Psychiatry; 2018 May; 75(5):447-457. PubMed ID: 29562078
[TBL] [Abstract][Full Text] [Related]
18. Deletions of chromosomal regulatory boundaries are associated with congenital disease.
Ibn-Salem J; Köhler S; Love MI; Chung HR; Huang N; Hurles ME; Haendel M; Washington NL; Smedley D; Mungall CJ; Lewis SE; Ott CE; Bauer S; Schofield PN; Mundlos S; Spielmann M; Robinson PN
Genome Biol; 2014 Sep; 15(9):423. PubMed ID: 25315429
[TBL] [Abstract][Full Text] [Related]
19. Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.
Iyer J; Girirajan S
Brief Funct Genomics; 2015 Sep; 14(5):315-28. PubMed ID: 25971441
[TBL] [Abstract][Full Text] [Related]
20. Genomic copy number variation, human health, and disease.
Wain LV; Armour JA; Tobin MD
Lancet; 2009 Jul; 374(9686):340-50. PubMed ID: 19535135
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]