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2. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722 [TBL] [Abstract][Full Text] [Related]
3. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases. Testard Q; Vanhoye X; Yauy K; Naud ME; Vieville G; Rousseau F; Dauriat B; Marquet V; Bourthoumieu S; Geneviève D; Gatinois V; Wells C; Willems M; Coubes C; Pinson L; Dard R; Tessier A; Hervé B; Vialard F; Harzallah I; Touraine R; Cogné B; Deb W; Besnard T; Pichon O; Laudier B; Mesnard L; Doreille A; Busa T; Missirian C; Satre V; Coutton C; Celse T; Harbuz R; Raymond L; Taly JF; Thevenon J J Med Genet; 2022 Dec; 59(12):1234-1240. PubMed ID: 36137615 [TBL] [Abstract][Full Text] [Related]
4. The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders. Runheim H; Pettersson M; Hammarsjö A; Nordgren A; Henriksson M; Lindstrand A; Levin LÅ; Soller MJ Sci Rep; 2023 Apr; 13(1):6904. PubMed ID: 37106068 [TBL] [Abstract][Full Text] [Related]
5. Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting. Mazzonetto PC; Villela D; da Costa SS; Krepischi ACV; Milanezi F; Migliavacca MP; Pierry PM; Bonaldi A; Almeida LGD; De Souza CA; Kroll JE; Paula MG; Guarischi-Sousa R; Scapulatempo-Neto C; Rosenberg C Ann Hum Genet; 2024 Mar; 88(2):113-125. PubMed ID: 37807935 [TBL] [Abstract][Full Text] [Related]
6. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. Clark MM; Stark Z; Farnaes L; Tan TY; White SM; Dimmock D; Kingsmore SF NPJ Genom Med; 2018; 3():16. PubMed ID: 30002876 [TBL] [Abstract][Full Text] [Related]
7. Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies. Yang M; Kim JA; Jo HS; Park JH; Ahn SY; Sung SI; Park WS; Cho HW; Kim JM; Park MH; Park HY; Jang JH; Chang YS J Korean Med Sci; 2024 Sep; 39(36):e250. PubMed ID: 39315442 [TBL] [Abstract][Full Text] [Related]
8. Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. Ellingford JM; Barton S; Bhaskar S; Williams SG; Sergouniotis PI; O'Sullivan J; Lamb JA; Perveen R; Hall G; Newman WG; Bishop PN; Roberts SA; Leach R; Tearle R; Bayliss S; Ramsden SC; Nemeth AH; Black GC Ophthalmology; 2016 May; 123(5):1143-50. PubMed ID: 26872967 [TBL] [Abstract][Full Text] [Related]
10. JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level. Lee WP; Zhu Q; Yang X; Liu S; Cerveira E; Ryan M; Mil-Homens A; Bellfy L; Ye K; Lee C; Zhang C Genomics Proteomics Bioinformatics; 2022 Dec; 20(6):1197-1206. PubMed ID: 35085778 [TBL] [Abstract][Full Text] [Related]
11. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Yuan B; Wang L; Liu P; Shaw C; Dai H; Cooper L; Zhu W; Anderson SA; Meng L; Wang X; Wang Y; Xia F; Xiao R; Braxton A; Peacock S; Schmitt E; Ward PA; Vetrini F; He W; Chiang T; Muzny D; Gibbs RA; Beaudet AL; Breman AM; Smith J; Cheung SW; Bacino CA; Eng CM; Yang Y; Lupski JR; Bi W Genet Med; 2020 Oct; 22(10):1633-1641. PubMed ID: 32576985 [TBL] [Abstract][Full Text] [Related]
12. Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders. Sun Y; Liu F; Fan C; Wang Y; Song L; Fang Z; Han R; Wang Z; Wang X; Yang Z; Xu Z; Peng J; Shi C; Zhang H; Dong W; Huang H; Li Y; Le Y; Sun J; Peng Z BMC Med Genomics; 2021 Apr; 14(1):102. PubMed ID: 33849535 [TBL] [Abstract][Full Text] [Related]
13. Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies. Ali MAM; Hassan AM; Saafan MA; Abdelmagid AA Biochem Genet; 2020 Feb; 58(1):74-101. PubMed ID: 31273557 [TBL] [Abstract][Full Text] [Related]
14. A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing. Hochstenbach R; van Binsbergen E; Schuring-Blom H; Buijs A; Ploos van Amstel HK Eur J Med Genet; 2019 Sep; 62(9):103543. PubMed ID: 30248410 [TBL] [Abstract][Full Text] [Related]
15. Identification of novel candidate disease genes from de novo exonic copy number variants. Gambin T; Yuan B; Bi W; Liu P; Rosenfeld JA; Coban-Akdemir Z; Pursley AN; Nagamani SCS; Marom R; Golla S; Dengle L; Petrie HG; Matalon R; Emrick L; Proud MB; Treadwell-Deering D; Chao HT; Koillinen H; Brown C; Urraca N; Mostafavi R; Bernes S; Roeder ER; Nugent KM; Bader PI; Bellus G; Cummings M; Northrup H; Ashfaq M; Westman R; Wildin R; Beck AE; Immken L; Elton L; Varghese S; Buchanan E; Faivre L; Lefebvre M; Schaaf CP; Walkiewicz M; Yang Y; Kang SL; Lalani SR; Bacino CA; Beaudet AL; Breman AM; Smith JL; Cheung SW; Lupski JR; Patel A; Shaw CA; Stankiewicz P Genome Med; 2017 Sep; 9(1):83. PubMed ID: 28934986 [TBL] [Abstract][Full Text] [Related]
16. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. Hayeems RZ; Bhawra J; Tsiplova K; Meyn MS; Monfared N; Bowdin S; Stavropoulos DJ; Marshall CR; Basran R; Shuman C; Ito S; Cohn I; Hum C; Girdea M; Brudno M; Cohn RD; Scherer SW; Ungar WJ Eur J Hum Genet; 2017 Dec; 25(12):1303-1312. PubMed ID: 29158552 [TBL] [Abstract][Full Text] [Related]
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18. Clinical interpretation and implications of whole-genome sequencing. Dewey FE; Grove ME; Pan C; Goldstein BA; Bernstein JA; Chaib H; Merker JD; Goldfeder RL; Enns GM; David SP; Pakdaman N; Ormond KE; Caleshu C; Kingham K; Klein TE; Whirl-Carrillo M; Sakamoto K; Wheeler MT; Butte AJ; Ford JM; Boxer L; Ioannidis JP; Yeung AC; Altman RB; Assimes TL; Snyder M; Ashley EA; Quertermous T JAMA; 2014 Mar; 311(10):1035-45. PubMed ID: 24618965 [TBL] [Abstract][Full Text] [Related]
19. Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients. Yao RA; Akinrinade O; Chaix M; Mital S BMC Med Genomics; 2020 Jan; 13(1):11. PubMed ID: 31996208 [TBL] [Abstract][Full Text] [Related]
20. Experience of Low-Pass Whole-Genome Sequencing-Based Copy Number Variant Analysis: A Survey of Chinese Tertiary Hospitals. Zheng Y; Zhu B; Tan J; Guan Y; The Chinese Genomic Structural Variants Consortium ; Morton CC; Lu G Diagnostics (Basel); 2022 Apr; 12(5):. PubMed ID: 35626254 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]