| 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 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 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 |
0.297 |
|
| 2015 |
Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, et al. Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines. Molecular Genetics and Metabolism. 114: 599-603. PMID 25724074 DOI: 10.1016/J.Ymgme.2015.02.002 |
0.277 |
|
| 2018 |
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, ... ... Shur N, et al. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30206421 DOI: 10.1038/S41436-018-0268-1 |
0.261 |
|
| 2014 |
Benson C, Stobie L, Shur N, Yuan Z, Teixeira MR, Chung M. After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population. American Journal of Medical Genetics. Part A. 164: 557-8. PMID 24311519 DOI: 10.1002/Ajmg.A.36254 |
0.26 |
|
| 2018 |
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, ... ... Shur N, et al. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30279470 DOI: 10.1038/S41436-018-0327-7 |
0.253 |
|
| 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 |
0.248 |
|
| 2020 |
Salinero LK, Shur N, Oh AK. Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications. The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association. 1055665620954751. PMID 32909813 DOI: 10.1177/1055665620954751 |
0.227 |
|
| 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 |
0.227 |
|
| 2018 |
Zori R, Thomas JA, Shur N, Rizzo WB, Decker C, Rosen O, Li M, Schweighardt B, Larimore K, Longo N. Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria. Molecular Genetics and Metabolism. PMID 30146451 DOI: 10.1016/J.Ymgme.2018.06.010 |
0.216 |
|
| 2007 |
Roe AM, Shur N. From new screens to discovered genes: the successful past and promising present of single gene disorders. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 145: 77-86. PMID 17315238 DOI: 10.1002/ajmg.c.30121 |
0.216 |
|
| 2021 |
George MP, Shur NE, Peréz-Rosselló JM. Ehlers-Danlos syndrome: what the radiologist needs to know. Pediatric Radiology. 51: 1023-1028. PMID 33999243 DOI: 10.1007/s00247-020-04856-1 |
0.213 |
|
| 2020 |
Summerlin ML, Regier DS, Fraser JL, Chapman KA, Kafashzadeh D, Billington C, Kisling M, Grochowsky A, Ah Mew N, Shur N. Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis. American Journal of Medical Genetics. Part A. PMID 33300687 DOI: 10.1002/ajmg.a.62000 |
0.208 |
|
| 2021 |
van Woerden GM, Bos M, de Konink C, Distel B, Trezza RA, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, Mc Cormack R, et al. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Human Mutation. PMID 33565190 DOI: 10.1002/humu.24176 |
0.204 |
|
| 2021 |
Shur NE, Summerlin ML, McIntosh BJ, Shalaby-Rana E, Hinds TS. Genetic causes of fractures and subdural hematomas: fact versus fiction. Pediatric Radiology. 51: 1029-1043. PMID 33999244 DOI: 10.1007/s00247-020-04865-0 |
0.194 |
|
| 2021 |
Cohen AJ, Shur N, Starin D, MacLeod E, Roshan Lal T, Leon E, Regier DS. Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 33427371 DOI: 10.1002/ajmg.c.31882 |
0.193 |
|
| 2020 |
Shur N, Summerlin ML, Robin NH, Moreno-Mendelson A, Shalaby-Rana E, Hinds T. Genetic consultations in cases of unexplained fractures and haemorrhage: an evidence-based approach. Current Opinion in Pediatrics. PMID 33337606 DOI: 10.1097/MOP.0000000000000986 |
0.189 |
|
| 2009 |
Shur N. The genetics of twinning: from splitting eggs to breaking paradigms. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 151: 105-9. PMID 19363800 DOI: 10.1002/ajmg.c.30204 |
0.181 |
|
| 2011 |
Shur N. Genetic drift. The real tiger mother: from the clinical geneticist's perspective. American Journal of Medical Genetics. Part A. 155: 2088-90. PMID 21834053 DOI: 10.1002/ajmg.a.34138 |
0.178 |
|
| 2023 |
Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin. Molecular Genetics and Metabolism. 139: 107605. PMID 37207470 DOI: 10.1016/j.ymgme.2023.107605 |
0.177 |
|
| 2023 |
Shur N, Tigranyan A, Daymont C, Regier DS, Raturi S, Roshan Lal T, Cleary K, Summar M. The past, present, and future of child growth monitoring: A review and primer for clinical genetics. American Journal of Medical Genetics. Part A. PMID 36708136 DOI: 10.1002/ajmg.a.63102 |
0.166 |
|
| 2020 |
Shur N, Atabaki SM, Kisling MS, Tabarani A, Williams C, Fraser JL, S Regier D, Summar M. Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19. American Journal of Medical Genetics. Part A. PMID 33051968 DOI: 10.1002/ajmg.a.61911 |
0.158 |
|
| 2020 |
Alqarajeh F, Omorodion J, Bosfield K, Shur N, Ferreira CR. Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis. Translational Science of Rare Diseases. 5: 81-86. PMID 33134088 DOI: 10.3233/TRD-190035 |
0.157 |
|
| 2019 |
Shur N. A case of broken bones and systems: The threat of irresponsible testimony. American Journal of Medical Genetics. Part A. 179: 429-434. PMID 30697977 DOI: 10.1002/ajmg.a.61043 |
0.143 |
|
| 2017 |
Menaker N, Halligan K, Shur N, Paige J, Hickling M, Nepo A, Weintraub L. Acute Liver Failure During Deferasirox Chelation: A Toxicity Worth Considering. Journal of Pediatric Hematology/Oncology. 39: 217-222. PMID 28221265 DOI: 10.1097/Mph.0000000000000786 |
0.132 |
|
| 2020 |
Bosfield K, Regier DS, Viall S, Hicks R, Shur N, Grant CL. Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations. American Journal of Medical Genetics. Part A. PMID 33098355 DOI: 10.1002/ajmg.a.61930 |
0.131 |
|
| 2021 |
Carpenter AB, Sheppard E, Atabaki S, Shur N, Tigranyan A, Benchoff T, Snyder A, Fisher A, Cleary K. A Symposium on the Clinic of the Future and Telehealth: Highlights and Future Directions. Cureus. 13: e15234. PMID 34178544 DOI: 10.7759/cureus.15234 |
0.127 |
|
| 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 |
0.12 |
|
| 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 |
0.114 |
|
| 2021 |
Shur N, Robin NH. Editorial: Medical genetics, expert medical testimony, and suspected child abuse cases: a call for evidence-based standards in clinic and the courtroom. Current Opinion in Pediatrics. 33: 1-2. PMID 33337605 DOI: 10.1097/MOP.0000000000000987 |
0.113 |
|
| 2024 |
Atabaki SM, Shur NE, Munoz RA, Bhuvanendran S, Sable C, Rojas CR, Lopez-Magallon AJ, Clarke JC, Sabouriane CE, Krishnan A, Wessel DL. Direct-to-patient telemedicine: Expanding access to regional pediatric specialty care. Journal of Investigative Medicine : the Official Publication of the American Federation For Clinical Research. 10815589231222197. PMID 38102744 DOI: 10.1177/10815589231222197 |
0.104 |
|
| 2019 |
Shur N, Tinkle B, Summar M, Frasier L, Shalaby-Rana E, McIntosh B. Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not rule. American Journal of Medical Genetics. Part A. PMID 31515912 DOI: 10.1002/Ajmg.A.61347 |
0.103 |
|
| 2019 |
Shur N, Hinds T, Shalaby-Rana E, Tinkle B, Frasier L, Bulas D, Summar M, Jackson A. Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse. American Journal of Medical Genetics. Part A. PMID 31565855 DOI: 10.1002/Ajmg.A.61348 |
0.082 |
|
| 2020 |
Brown SD, Moreno JA, Shur N, Servaes S. Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub's flawed theories about child abuse and metabolic bone disease. Journal of Pediatric Endocrinology & Metabolism : Jpem. PMID 32084006 DOI: 10.1515/jpem-2019-0544 |
0.08 |
|
| Hide low-probability matches. |