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851 results

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Page 1
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Ruzzo EK, et al. Among authors: jiang yh. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013. Neuron. 2013. PMID: 24139043 Free PMC article.
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Zhu X, et al. Among authors: jiang yh. Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590979 Free PMC article.
Quinidine in the treatment of KCNT1-positive epilepsies.
Mikati MA, Jiang YH, Carboni M, Shashi V, Petrovski S, Spillmann R, Milligan CJ, Li M, Grefe A, McConkie A, Berkovic S, Scheffer I, Mullen S, Bonner M, Petrou S, Goldstein D. Mikati MA, et al. Among authors: jiang yh. Ann Neurol. 2015 Dec;78(6):995-9. doi: 10.1002/ana.24520. Epub 2015 Nov 18. Ann Neurol. 2015. PMID: 26369628 Free PMC article.
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.
Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Petrovski S, et al. Among authors: jiang yh. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000257. doi: 10.1101/mcs.a000257. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148561 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Mulkey SB, et al. Among authors: jiang yh. Epilepsia. 2017 Mar;58(3):436-445. doi: 10.1111/epi.13676. Epub 2017 Jan 31. Epilepsia. 2017. PMID: 28139826 Free PMC article.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Among authors: jiang yh. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 Free PMC article.
851 results