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Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Marhabaie M, et al. Among authors: gordon dm. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006122. doi: 10.1101/mcs.a006122. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34667072 Free PMC article.
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
Gordon DM, Cunningham D, Zender G, Lawrence PJ, Penaloza JS, Lin H, Fitzgerald-Butt SM, Myers K, Duong T, Corsmeier DJ, Gaither JB, Kuck HC, Wijeratne S, Moreland B, Kelly BJ; Baylor-Johns Hopkins Center for Mendelian Genomics; Garg V, White P, McBride KL. Gordon DM, et al. PLoS Genet. 2022 Jun 23;18(6):e1010236. doi: 10.1371/journal.pgen.1010236. eCollection 2022 Jun. PLoS Genet. 2022. PMID: 35737725 Free PMC article.
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
Abdel-Rahman MH, Sample KM, Pilarski R, Walsh T, Grosel T, Kinnamon D, Boru G, Massengill JB, Schoenfield L, Kelly B, Gordon D, Johansson P, DeBenedictis MJ, Singh A, Casadei S, Davidorf FH, White P, Stacey AW, Scarth J, Fewings E, Tischkowitz M, King MC, Hayward NK, Cebulla CM. Abdel-Rahman MH, et al. Ophthalmology. 2020 May;127(5):668-678. doi: 10.1016/j.ophtha.2019.11.009. Epub 2019 Nov 18. Ophthalmology. 2020. PMID: 32081490 Free PMC article.
406 results