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Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.
Gurbuz F, Desai S, Diao F, Turkkahraman D, Wranitz F, Wood-Trageser M, Shin YH, Kotan LD, Jiang H, Witchel S, Gurtunca N, Yatsenko S, Mysliwec D, Topaloglu K, Rajkovic A. Gurbuz F, et al. Among authors: witchel s. Clin Genet. 2018 Apr;93(4):853-859. doi: 10.1111/cge.13183. Epub 2018 Jan 24. Clin Genet. 2018. PMID: 29178422
Molecular Characterization of Sporadic Pediatric Thyroid Carcinoma with the DNA/RNA ThyroSeq v2 Next-Generation Sequencing Assay.
Picarsic JL, Buryk MA, Ozolek J, Ranganathan S, Monaco SE, Simons JP, Witchel SF, Gurtunca N, Joyce J, Zhong S, Nikiforova MN, Nikiforov YE. Picarsic JL, et al. Among authors: witchel sf. Pediatr Dev Pathol. 2016 Mar-Apr;19(2):115-22. doi: 10.2350/15-07-1667-OA.1. Epub 2015 Sep 14. Pediatr Dev Pathol. 2016. PMID: 26367451 Free PMC article.
MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.
Desai S, Wood-Trageser M, Matic J, Chipkin J, Jiang H, Bachelot A, Dulon J, Sala C, Barbieri C, Cocca M, Toniolo D, Touraine P, Witchel S, Rajkovic A. Desai S, et al. Among authors: witchel s. J Clin Endocrinol Metab. 2017 Feb 1;102(2):576-582. doi: 10.1210/jc.2016-2565. J Clin Endocrinol Metab. 2017. PMID: 27802094 Free PMC article.
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A. Portnoi MF, et al. Among authors: witchel sf. Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037. Hum Mol Genet. 2018. PMID: 29373757 Free PMC article. Clinical Trial.
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
Eozenou C, Gonen N, Touzon MS, Jorgensen A, Yatsenko SA, Fusee L, Kamel AK, Gellen B, Guercio G, Singh P, Witchel S, Berman AJ, Mainpal R, Totonchi M, Mohseni Meybodi A, Askari M, Merel-Chali T, Bignon-Topalovic J, Migale R, Costanzo M, Marino R, Ramirez P, Perez Garrido N, Berensztein E, Mekkawy MK, Schimenti JC, Bertalan R, Mazen I, McElreavey K, Belgorosky A, Lovell-Badge R, Rajkovic A, Bashamboo A. Eozenou C, et al. Among authors: witchel s. Proc Natl Acad Sci U S A. 2020 Jun 16;117(24):13680-13688. doi: 10.1073/pnas.1921676117. Epub 2020 Jun 3. Proc Natl Acad Sci U S A. 2020. PMID: 32493750 Free PMC article.
166 results