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Early-onset cerebellar ataxia in a patient with CMT2A2.
Madrid R, Guariglia SR, Haworth A, Korosh W, Gavin M, Lyon GJ. Madrid R, et al. Among authors: lyon gj. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005108. doi: 10.1101/mcs.a005108. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532879 Free PMC article.
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon GJ, Vedaie M, Beisheim T, Park A, Marchi E, Gottlieb L, Hsieh TC, Klinkhammer H, Sandomirsky K, Cheng H, Starr LJ, Preddy I, Tseng M, Li Q, Hu Y, Wang K, Carvalho A, Martinez F, Caro-Llopis A, Gavin M, Amble K, Krawitz P, Marmorstein R, Herr-Israel E. Lyon GJ, et al. Eur J Hum Genet. 2023 Jul;31(7):824-833. doi: 10.1038/s41431-023-01368-y. Epub 2023 May 2. Eur J Hum Genet. 2023. PMID: 37130971 Free PMC article.
SCN8A mutation in a child presenting with seizures and developmental delays.
Malcolmson J, Kleyner R, Tegay D, Adams W, Ward K, Coppinger J, Nelson L, Meisler MH, Wang K, Robison R, Lyon GJ. Malcolmson J, et al. Among authors: lyon gj. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001073. doi: 10.1101/mcs.a001073. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900360 Free PMC article.
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ. Kleyner R, et al. Among authors: lyon gj. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900361 Free PMC article.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Cheng H, et al. Among authors: lyon gj. Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. doi: 10.1093/hmg/ddz111. Hum Mol Genet. 2019. PMID: 31127942 Free PMC article.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Among authors: lyon gj. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
106 results