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Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.
Bélanger C, Bérubé-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Bélanger C, et al. Among authors: srivastava a. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E620-E629. doi: 10.1073/pnas.1715378115. Epub 2018 Jan 8. Proc Natl Acad Sci U S A. 2018. PMID: 29311329 Free PMC article.
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.
Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Moccia A, et al. Among authors: srivastava a. Genet Med. 2018 Sep;20(9):1022-1029. doi: 10.1038/gim.2017.233. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300383 Free PMC article.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network; Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Jordan VK, et al. Among authors: srivastava a. Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25. Hum Mutat. 2018. PMID: 29330883 Free PMC article.
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL. Srivastava A, et al. Among authors: srivastava kr. Eur J Hum Genet. 2018 Nov;26(11):1582-1587. doi: 10.1038/s41431-018-0209-0. Epub 2018 Jul 5. Eur J Hum Genet. 2018. PMID: 29976978 Free PMC article.
7,031 results