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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Serey-Gaut M, et al. Among authors: dibra hk. Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. Am J Hum Genet. 2023. PMID: 36724785 Free PMC article.
Identification and functional validation of HPV-mediated hypermethylation in head and neck squamous cell carcinoma.
Lechner M, Fenton T, West J, Wilson G, Feber A, Henderson S, Thirlwell C, Dibra HK, Jay A, Butcher L, Chakravarthy AR, Gratrix F, Patel N, Vaz F, O'Flynn P, Kalavrezos N, Teschendorff AE, Boshoff C, Beck S. Lechner M, et al. Among authors: dibra hk. Genome Med. 2013 Feb 5;5(2):15. doi: 10.1186/gm419. eCollection 2013. Genome Med. 2013. PMID: 23419152 Free PMC article.