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7. CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations. Royer-Bertrand B; Cisarova K; Niel-Butschi F; Mittaz-Crettol L; Fodstad H; Superti-Furga A Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573409 [TBL] [Abstract][Full Text] [Related]
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10. Detection of copy number variations in epilepsy using exome data. Tsuchida N; Nakashima M; Kato M; Heyman E; Inui T; Haginoya K; Watanabe S; Chiyonobu T; Morimoto M; Ohta M; Kumakura A; Kubota M; Kumagai Y; Hamano SI; Lourenco CM; Yahaya NA; Ch'ng GS; Ngu LH; Fattal-Valevski A; Weisz Hubshman M; Orenstein N; Marom D; Cohen L; Goldberg-Stern H; Uchiyama Y; Imagawa E; Mizuguchi T; Takata A; Miyake N; Nakajima H; Saitsu H; Miyatake S; Matsumoto N Clin Genet; 2018 Mar; 93(3):577-587. PubMed ID: 28940419 [TBL] [Abstract][Full Text] [Related]
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15. Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. Szatkiewicz JP; Neale BM; O'Dushlaine C; Fromer M; Goldstein JI; Moran JL; Chambert K; Kähler A; Magnusson PK; Hultman CM; Sklar P; Purcell S; McCarroll SA; Sullivan PF Mol Psychiatry; 2013 Nov; 18(11):1178-84. PubMed ID: 23938935 [TBL] [Abstract][Full Text] [Related]
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20. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Dharmadhikari AV; Ghosh R; Yuan B; Liu P; Dai H; Al Masri S; Scull J; Posey JE; Jiang AH; He W; Vetrini F; Braxton AA; Ward P; Chiang T; Qu C; Gu S; Shaw CA; Smith JL; Lalani S; Stankiewicz P; Cheung SW; Bacino CA; Patel A; Breman AM; Wang X; Meng L; Xiao R; Xia F; Muzny D; Gibbs RA; Beaudet AL; Eng CM; Lupski JR; Yang Y; Bi W Genome Med; 2019 May; 11(1):30. PubMed ID: 31101064 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]