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Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM. Ziats MN, et al. Among authors: martin dm. Pediatr Res. 2020 Mar;87(4):735-739. doi: 10.1038/s41390-019-0611-5. Epub 2019 Oct 16. Pediatr Res. 2020. PMID: 31618753 Free PMC article.
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. Reis LM, et al. Among authors: martin dm. Hum Genet. 2011 Oct;130(4):495-504. doi: 10.1007/s00439-011-0968-y. Epub 2011 Feb 22. Hum Genet. 2011. PMID: 21340693 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: martin dm. 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.
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: martin dm. 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.
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: martin dm. 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.
372 results