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893 results

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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA. Shalev SA, et al. Among authors: gibbs ra. Pediatr Diabetes. 2014 May;15(3):252-6. doi: 10.1111/pedi.12086. Epub 2013 Oct 21. Pediatr Diabetes. 2014. PMID: 24138066 Free PMC article.
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. Gonzaga-Jauregui C, et al. Among authors: gibbs ra. JAMA Neurol. 2013 Dec;70(12):1491-8. doi: 10.1001/jamaneurol.2013.4598. JAMA Neurol. 2013. PMID: 24126608 Free PMC article.
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN; Centers for Mendelian Genomics; Gibbs RA, Lupski JR. Pehlivan D, et al. Among authors: gibbs ra. Eur J Hum Genet. 2014 Sep;22(9):1145-8. doi: 10.1038/ejhg.2013.291. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424126 Free PMC article.
NR2F1 mutations cause optic atrophy with intellectual disability.
Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA; Baylor-Hopkins Center for Mendelian Genomics; Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP. Bosch DG, et al. Among authors: gibbs ra. Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462372 Free PMC article.
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
Gonzaga-Jauregui C, Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA. Gonzaga-Jauregui C, et al. Among authors: gibbs ra. J Pediatr Gastroenterol Nutr. 2014 Jul;59(1):17-21. doi: 10.1097/MPG.0000000000000363. J Pediatr Gastroenterol Nutr. 2014. PMID: 24614124 Free PMC article.
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. Xia F, et al. Among authors: gibbs ra. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. Am J Hum Genet. 2014. PMID: 24791903 Free PMC article.
893 results