NatashaShurMD

PubMed

• 1 citations
  The past, present, and future of child growth monitoring: A review and primer for clinical genetics.
  Natasha Shur, Annie Tigranyan, Carrie Daymont, Debra S Regier, Sumant Raturi, Tamanna Roshan Lal, Kevin Cleary, Marshall Summar> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 4 citations
  A Symposium on the Clinic of the Future and Telehealth: Highlights and Future Directions
  Austin B Carpenter, Evan Sheppard, Shireen M Atabaki, Natasha Shur, Annie Tigranyan, Theresa Benchoff, Adam Snyder, Aliza Fisher, Kevin Cleary> ;Cureus. 2021 May 25
• 4 citations
  Genetic causes of fractures and subdural hematomas: fact versus fiction
  Natasha Shur, Maxwell L Summerlin, Bruce J McIntosh, Eglal Shalaby-Rana, Tanya S. Hinds> ;Pediatric Radiology. 2021 May 1
• 25 citations
  TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
  Geeske M. van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha Shur, Kristin W. Barañano, Sonal Mahida, Anna Chassevent, Allis...> ;Human Mutation. 2021 Feb 10
• 3 citations
  Editorial: Medical genetics, expert medical testimony, and suspected child abuse cases: a call for evidence-based standards in clinic and the courtroom.
  Natasha Shur, Nathaniel H. Robin> ;Current Opinion in Pediatrics. 2021 Feb 1
• 5 citations
  Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.
  Andrea J. Cohen, Natasha Shur, Danielle Starin, Erin MacLeod, Tamanna R. Roshan Lal, Eyby Leon, Debra S Regier> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 Jan 11
• 31 citations
  Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19.
  Natasha Shur, Shireen M Atabaki, Monisha S. Kisling, Abir Tabarani, Clarence Williams, Jamie L. Fraser, Debra S Regier, Marshall L. Summar> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 4 citations
  Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations
  Kerri Bosfield, Debra S Regier, Sarah Viall, Rebecca Hicks, Natasha Shur, Christina Grant> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 4 citations
  Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
  Maxwell L Summerlin, Debra S Regier, Jamie L. Fraser, Kimberly A. Chapman, Dariush Kafashzadeh, Charles J. Billington, Monisha S. Kisling, Angela Grochowsky, Nicholas ...> ;American Journal of Medical Genetics. Part A. 2020 Dec 10
• 1 citations
  Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplicati...
  Lauren K Salinero, Natasha Shur, Albert K. Oh> ;The Cleft Palate-Craniofacial Journal. 2021 Apr 1
• 20 citations
  Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling
  Thuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, Céline Huber, Chelsea Kois, Geneviève Baujat, Christopher T. Gordon, Valerie Mayne, Louise Galmiche, Valérie Serre, Nicol...> ;American Journal of Human Genetics. 2020 Jun 4
• 7 citations
  Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub's flawed theories about child abuse and metabolic bone disease.
  Stephen D. Brown, Joelle Anne Moreno, Natasha Shur, Sabah Servaes> ;Journal of Pediatric Endocrinology & Metabolism. 2020 Apr 28
• 2 citations
  Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse
  Natasha Shur, Tanya S. Hinds, Eglal Shalaby-Rana, Brad T. Tinkle, Lori D. Frasier, Dorothy I. Bulas, Marshall L. Summar, Allison M. Jackson> ;American Journal of Medical Genetics. Part A. 2019 Sep 29
• 2 citations
  Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not rule.
  Natasha Shur, Brad T. Tinkle, Marshall L. Summar, Lori D. Frasier, Eglal Shalaby-Rana, Bruce J McIntosh> ;American Journal of Medical Genetics. Part A. 2019 Sep 12
• 3 citations
  Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
  Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patr...> ;Genetics in Medicine. 2019 Aug 1
• 7 citations
  Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.
  Firas Alqarajeh, Jacklyn Omorodion, Kerri Bosfield, Natasha Shur, Carlos Ferreira> ;Translational Science of Rare Diseases. 2019 Jun 14
• 9 citations
  Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
  Emanuele G. Coci, Vytautas Gapsys, Natasha Shur, Yoon Shin‐Podskarbi, Bert L. de Groot, Kathryn G. Miller, Jerry Vockley, Neal Sondheimer, Rebecca D. Ganetzky, Peter F...> ;Human Mutation. 2019 Apr 13
• 44 citations
  IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
  Cyril Mignot, Aoife Ac McMahon, Claire Bar, Philippe Pm Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, P...> ;Genetics in Medicine. 2019 Apr 1
• 6 citations
  A case of broken bones and systems: The threat of irresponsible testimony
  Natasha Shur> ;American Journal of Medical Genetics. Part A. 2019 Mar 1
• 19 citations
  Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
  Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar, Ilse J. Anderson, Marisa V. Andrews, Celia Atkinson, Margaret G. Au, Susan A. Berry, Kevin ...> ;Genetics in Medicine. 2019 Feb 11
• 19 citations
  Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.
  Roberto T. Zori, Janet A. Thomas, Natasha Shur, William B. Rizzo, Celeste Decker, Orli Rosen, Mingjin Li, Becky Schweighardt, Kevin Larimore, Nicola Longo> ;Molecular Genetics and Metabolism. 2018 Nov 1
• 36 citations
  De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic dev...
  Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegman...> ;Human Molecular Genetics. 2017 Dec 15
• 51 citations
  GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
  Yongjin Yoo, Jane Jung, Yoo Na Lee, Youngha Lee, Hyosuk Cho, Eunjung Na, Jea Yeok Hong, Eun Jin Kim, Jin Sook Lee, Je Sang Lee, Chansik Hong, Sang-Yoon Park, Jinhong W...> ;Annals of Neurology. 2017 Sep 1
• 51 citations
  Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
  Francesco Vetrini, Lisa C.A. D'Alessandro, Zeynep Coban Akdemir, Alicia Braxton, Mahshid S. Azamian, Mohammad K. Eldomery, Kathryn G. Miller, Chelsea Kois, Virginia Sa...> ;American Journal of Human Genetics. 2016 Oct 6
• 82 citations
  Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
  Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane-Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey...> ;American Journal of Human Genetics. 2016 May 5
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Journal Articles

• Correction: IQSEC2-Related Encephalopathy in Males and Females: A Comparative Study Including 37 Novel Patients  
  Natasha Shur, Ethan M Goldberg, Nature
• IQSEC2-Related Encephalopathy in Males and Females: A Comparative Study Including 37 Novel Patients  
  Natasha Shur, Ethan M Goldberg, Katherine L Helbig, Ana G Cristancho, Nature