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Robert Kleyner - Publications

Affiliations: 
2015- Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 
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9 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Kleyner R, Ung N, Mohammad A, Marchi E, Amble K, Gavin M, Madrid R, Lyon G. ITPR1-Associated Spinocerebellar Ataxia with Craniofacial Features - Additional Evidence for Germline Mosaicism. Cold Spring Harbor Molecular Case Studies. PMID 37821226 DOI: 10.1101/mcs.a006303  0.666
2021 Kleyner R, Mohammad A, Marchi E, Horowitz N, Haworth A, King B, Amble K, Gavin M, Velinov M, Lyon GJ. Autosomal recessive SLC30A9 variants in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity. Cold Spring Harbor Molecular Case Studies. PMID 34716203 DOI: 10.1101/mcs.a006137  0.599
2020 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, et al. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human Molecular Genetics. PMID 32027362 DOI: 10.1093/Hmg/Ddz173  0.705
2019 Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, et al. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Human Mutation. PMID 31646703 DOI: 10.1002/Humu.23936  0.697
2019 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, et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. American Journal of Human Genetics. PMID 31256877 DOI: 10.1016/J.Ajhg.2019.06.001  0.65
2019 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, et al. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human Molecular Genetics. PMID 31127942 DOI: 10.1093/hmg/ddz111  0.712
2018 Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, et al. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. American Journal of Human Genetics. PMID 29656860 DOI: 10.1016/J.Ajhg.2018.03.004  0.704
2016 Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ. KBG syndrome involving a single-nucleotide duplication in ANKRD11. Cold Spring Harbor Molecular Case Studies. 2: a001131. PMID 27900361 DOI: 10.1101/mcs.a001131  0.654
2016 Malcolmson J, Kleyner R, Tegay D, Adams W, Ward K, Coppinger J, Nelson L, Meisler MH, Wang K, Robison R, Lyon GJ. SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harbor Molecular Case Studies. 2: a001073. PMID 27900360 DOI: 10.1101/mcs.a001073  0.587
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