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Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D. Hughes JJ, et al. Among authors: choukair d. Am J Hum Genet. 2020 Jan 2;106(1):121-128. doi: 10.1016/j.ajhg.2019.12.004. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883643 Free PMC article.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. Marafi D, et al. Among authors: choukair d. Am J Hum Genet. 2022 Sep 1;109(9):1713-1723. doi: 10.1016/j.ajhg.2022.07.006. Epub 2022 Aug 9. Am J Hum Genet. 2022. PMID: 35948005 Free PMC article.
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Li D, Wang Q, Gong NN, Kurolap A, Feldman HB, Boy N, Brugger M, Grand K, McWalter K, Guillen Sacoto MJ, Wakeling E, Hurst J, March ME, Bhoj EJ, Nowaczyk MJM, Gonzaga-Jauregui C, Mathew M, Dava-Wala A, Siemon A, Bartholomew D, Huang Y, Lee H, Martinez-Agosto JA, Schwaibold EMC, Brunet T, Choukair D, Pais LS, White SM, Christodoulou J, Brown D, Lindstrom K, Grebe T, Tiosano D, Kayser MS, Tan TY, Deardorff MA, Song Y, Hakonarson H. Li D, et al. Among authors: choukair d. Sci Adv. 2021 May 12;7(20):eabf2066. doi: 10.1126/sciadv.abf2066. Print 2021 May. Sci Adv. 2021. PMID: 33980485 Free PMC article.
Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks§.
Vogt PH, Besikoglu B, Bettendorf M, Frank-Herrmann P, Zimmer J, Bender U, Knauer-Fischer S, Choukair D, Sinn P, Doerr HG, Woelfle J, Heidemann PH, Lau YC, Strowitzki T. Vogt PH, et al. Among authors: choukair d. Syst Biol Reprod Med. 2022 Aug;68(4):247-257. doi: 10.1080/19396368.2022.2057258. Epub 2022 Apr 28. Syst Biol Reprod Med. 2022. PMID: 35481403 Free PMC article.
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