Natasha Shur, M.D. - Publications

2009-2013 Pediatrics Warren Alpert Medical School of Brown University, Providence, RI, United States 
 2014- Pediatrics Albany Medical Center, Albany, NY, United States 

16 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
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  0.32
2016 Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, ... ... Shur N, et al. Newborn screening for Krabbe disease in New York State: the first eight years' experience. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26795590 DOI: 10.1038/gim.2015.211  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2011 Shur N, Gunn S, Feit L, Oh AK, Yatchmink Y, Abuelo D. The role of new genetic technology in investigating autism and developmental delay. Medicine and Health, Rhode Island. 94: 131, 134-7. PMID 21710921  0.32
2011 Harris TJ, Donahue JE, Shur N, Tung GA. Case 168: rhabdoid predisposition syndrome--familial cancer syndromes in children. Radiology. 259: 298-302. PMID 21436099 DOI: 10.1148/radiol.10092219  0.32
2010 Burke S, Buchanan AO, Shur N, Gambosova K, Harappanahally GV, Quintos JB. Picture of the month: adrenoleukodystrophy and adrenomyeloneuropathy. Archives of Pediatrics & Adolescent Medicine. 164: 97-8. PMID 20048250 DOI: 10.1001/archpediatrics.2009.245-a  0.32
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  0.32
2006 Shur N, Marion R, Gross SJ. A surprising postnatal diagnosis. Obstetrics and Gynecology. 108: 189-95. PMID 16816074 DOI: 10.1097/01.AOG.0000224706.48265.80  0.32
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