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Natasha Shur, M.D. - Publications

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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20 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
2022 Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, ... ... Shur N, et al. Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Human Mutation. PMID 35815345 DOI: 10.1002/humu.24435  0.378
2020 Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, ... ... Shur N, et al. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. American Journal of Human Genetics. PMID 32413283 DOI: 10.1016/J.Ajhg.2020.04.010  0.306
2019 Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot B, Miller K, Vockley J, Sondheimer N, Ganetzky R, Freisinger P. 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. PMID 30870574 DOI: 10.1002/Humu.23742  0.325
2019 Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, ... ... Shur N, et al. 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. PMID 30739909 DOI: 10.1038/S41436-019-0454-9  0.403
2017 Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, et al. 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. PMID 29036646 DOI: 10.1093/Hmg/Ddx363  0.44
2017 Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, et al. GABBR2 mutations determine phenotype in Rett syndrome and epileptic encephalopathy. Annals of Neurology. PMID 28856709 DOI: 10.1002/Ana.25032  0.413
2016 Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, et al. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. American Journal of Human Genetics. PMID 27616478 DOI: 10.1016/J.Ajhg.2016.07.011  0.399
2016 Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, ... ... Shur N, et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. American Journal of Human Genetics. PMID 27108799 DOI: 10.1016/J.Ajhg.2016.03.011  0.411
2015 Rabago J, Marra K, Allmendinger N, Shur N. 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. PMID 26581677 DOI: 10.1002/Ajmg.C.31465  0.408
2015 Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, et al. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. PMID 26576547 DOI: 10.1007/S10048-015-0466-9  0.365
2015 Shur N, Carey JC. Genetic differentials of child abuse: Is your case rare or real? American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 26513547 DOI: 10.1002/Ajmg.C.31464  0.329
2014 Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. Journal of Medical Genetics. 51: 587-9. PMID 25057125 DOI: 10.1136/Jmedgenet-2014-102444  0.622
2014 Zarate YA, Shur N, Robin A, Garnica AD, Quintos JB, Schaefer GB. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p. Journal of Pediatric Endocrinology & Metabolism : Jpem. 27: 951-5. PMID 24756053 DOI: 10.1515/Jpem-2013-0484  0.405
2013 Marano RM, Mercurio L, Kanter R, Doyle R, Abuelo D, Morrow EM, Shur N. Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients. Journal of Pediatric Genetics. 2: 25-31. PMID 27625836 DOI: 10.3233/Pge-13044  0.594
2013 Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 81: 1205-14. PMID 23975875 DOI: 10.1212/Wnl.0B013E3182A6Ca62  0.414
2012 Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, ... ... Shur N, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. The New England Journal of Medicine. 367: 1321-31. PMID 22970919 DOI: 10.1056/Nejmoa1200395  0.392
2012 Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, et al. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. Journal of Medical Genetics. 49: 110-8. PMID 22180641 DOI: 10.1136/Jmedgenet-2011-100499  0.582
2012 Sofos E, Pescosolido MF, Quintos JB, Abuelo D, Gunn S, Hovanes K, Morrow EM, Shur N. A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene. American Journal of Medical Genetics. Part A. 158: 50-8. PMID 22052655 DOI: 10.1002/Ajmg.A.34290  0.621
2009 Shur N, Abuelo D. Genetic syndromes: from clinical suspicion to referral to diagnosis. Pediatric Annals. 38: 419-25. PMID 19711879 DOI: 10.3928/00904481-20090723-04  0.355
2003 Shur N, Cowan J, Wheeler PG. Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1. American Journal of Medical Genetics. Part A. 120: 542-6. PMID 12884436 DOI: 10.1002/ajmg.a.20093  0.317
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