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Page 1
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics; Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Dyment DA, et al. Among authors: bilguvar k. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098347 Free PMC article.
Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.
Youngblood MW, Erson-Omay Z, Li C, Najem H, Coșkun S, Tyrtova E, Montejo JD, Miyagishima DF, Barak T, Nishimura S, Harmancı AS, Clark VE, Duran D, Huttner A, Avşar T, Bayri Y, Schramm J, Boetto J, Peyre M, Riche M, Goldbrunner R, Amankulor N, Louvi A, Bilgüvar K, Pamir MN, Özduman K, Kilic T, Knight JR, Simon M, Horbinski C, Kalamarides M, Timmer M, Heimberger AB, Mishra-Gorur K, Moliterno J, Yasuno K, Günel M. Youngblood MW, et al. Among authors: bilguvar k. Nat Commun. 2023 Oct 7;14(1):6279. doi: 10.1038/s41467-023-41926-y. Nat Commun. 2023. PMID: 37805627 Free PMC article.
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15.
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. Bilguvar K, et al. Am J Med Genet A. 2009 Nov;149A(11):2569-72. doi: 10.1002/ajmg.a.33063. Am J Med Genet A. 2009. PMID: 19876906 No abstract available.
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK. Stuart BD, et al. Among authors: bilguvar k. Nat Genet. 2015 May;47(5):512-7. doi: 10.1038/ng.3278. Epub 2015 Apr 13. Nat Genet. 2015. PMID: 25848748 Free PMC article.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Among authors: bilguvar k. Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166479 Free PMC article. Review.
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J. Brownstein CA, et al. Among authors: bilguvar k. Am J Med Genet A. 2016 May;170A(5):1165-73. doi: 10.1002/ajmg.a.37595. Epub 2016 Feb 16. Am J Med Genet A. 2016. PMID: 26887912 Free PMC article.
158 results