Natasha Shur, M.D.
Affiliations: | 2009-2013 | Pediatrics | Warren Alpert Medical School of Brown University, Providence, RI, United States |
| 2014- | Pediatrics | Albany Medical Center, Albany, NY, United States |
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Parents
Sign in to add mentor| Eric Morrow | post-doc | 2009-2013 | Warren Alpert Medical School of Brown University | |
| (Head of Division of Genetics in the Department of Pediatrics at Children’s Hospital, Albany Medical Center as of 2014) | ||||
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Publications
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| Lin SJ, Vona B, Porter HM, et al. (2022) Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Human Mutation |
| Le TL, Sribudiani Y, Dong X, et al. (2020) Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. American Journal of Human Genetics |
| Coci EG, Gapsys V, Shur N, et al. (2019) Pyruvate carboxylase deficiency type A and type C: characterization of 5 novel pathogenic variants in PC and analysis of the genotype-phenotype correlation. Human Mutation |
| Torti E, Keren B, Palmer EE, et al. (2019) Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Slavotinek A, Risolino M, Losa M, et al. (2017) De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Human Molecular Genetics |
| Yoo Y, Jung J, Lee YN, et al. (2017) GABBR2 mutations determine phenotype in Rett syndrome and epileptic encephalopathy. Annals of Neurology |
| Vetrini F, D'Alessandro LC, Akdemir ZC, et al. (2016) Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. American Journal of Human Genetics |
| Petrovski S, Küry S, Myers CT, et al. (2016) Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. American Journal of Human Genetics |
| Rabago J, Marra K, Allmendinger N, et al. (2015) The clinical geneticist and the evaluation of failure to thrive versus failure to feed. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 169: 337-48 |
| Shang L, Henderson LB, Cho MT, et al. (2015) De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics |