Natasha Shur

Natasha Shur

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Natasha Shur

Natasha Shur

Publications by authors named "Natasha Shur"

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Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse.

Am J Med Genet A 2019 Sep 29. Epub 2019 Sep 29.

Child Protection Pediatrician, Child & Adolescent Protection Center, George Washington University, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61348DOI Listing
September 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

A case of broken bones and systems: The threat of irresponsible testimony.

Authors:
Natasha Shur

Am J Med Genet A 2019 Mar 29;179(3):429-434. Epub 2019 Jan 29.

Division of Genetics, Children's National Medical Center, Washington, District of Columbia.

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http://doi.wiley.com/10.1002/ajmg.a.61043
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http://dx.doi.org/10.1002/ajmg.a.61043DOI Listing
March 2019

Acute Liver Failure During Deferasirox Chelation: A Toxicity Worth Considering.

J Pediatr Hematol Oncol 2017 04;39(3):217-222

Divisions of *Pediatric Hematology/Oncology †Genetics, Albany Medical Center ‡Department of Emergency Medicine, St Peter's Hospital, Albany, NY.

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http://dx.doi.org/10.1097/MPH.0000000000000786DOI Listing
April 2017

Genetic differentials of child abuse: Is your case rare or real?

Am J Med Genet C Semin Med Genet 2015 Dec 29;169(4):281-8. Epub 2015 Oct 29.

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http://dx.doi.org/10.1002/ajmg.c.31464DOI Listing
December 2015

The clinical geneticist and the evaluation of failure to thrive versus failure to feed.

Am J Med Genet C Semin Med Genet 2015 Dec 18;169(4):337-48. Epub 2015 Nov 18.

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http://dx.doi.org/10.1002/ajmg.c.31465DOI Listing
December 2015

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

J Med Genet 2014 Sep 23;51(9):587-9. Epub 2014 Jul 23.

Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135390PMC
September 2014

After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population.

Am J Med Genet A 2014 Feb 5;164A(2):557-8. Epub 2013 Dec 5.

Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Providence, Rhode Island.

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http://dx.doi.org/10.1002/ajmg.a.36254DOI Listing
February 2014

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Neurology 2013 Oct 23;81(14):1205-14. Epub 2013 Aug 23.

From the Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research (O.C.-B., P.B.A., K.S.-A., E.T.D., L.C.S., K.M., A.H.B.), and Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Physiology and Sarver Molecular Cardiovascular Research Program (C.H., H.G.), University of Arizona, Tucson; Center for Computational Molecular Biology and Department of Molecular and Cellular Biology and Biochemistry (R.S., W.G.F.), Brown University, Providence, RI; Department of Translational Medicine (N.V., J.L.), IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France; Departments of Pediatrics and Neurology and Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (P.B.S.), University of California, Los Angeles; Division of Human Genetics (N.S.), Department of Pediatrics, Rhode Island Hospital, Providence; Department of Pediatrics, Division of Pediatric Pathology (J.M.D.), and Department of Pathology and Laboratory Medicine (M.W.L), Medical College of Wisconsin, Milwaukee; Hasbro Children's Hospital (J.M.D.), and Center for Biomedical Engineering (W.G.F.), Brown University, Providence, RI.

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http://dx.doi.org/10.1212/WNL.0b013e3182a6ca62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795603PMC
October 2013

Genetic drift. The real tiger mother: from the clinical geneticist's perspective.

Authors:
Natasha Shur

Am J Med Genet A 2011 Sep 10;155A(9):2088-90. Epub 2011 Aug 10.

Department of Pediatrics, Division of Genetics, Rhode Island 02906, USA.

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http://dx.doi.org/10.1002/ajmg.a.34138DOI Listing
September 2011

The role of new genetic technology in investigating autism and developmental delay.

Med Health R I 2011 May;94(5):131, 134-7

Warren Alpert School of Medicine, Brown University, USA.

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May 2011

Case 168: rhabdoid predisposition syndrome--familial cancer syndromes in children.

Radiology 2011 Apr;259(1):298-302

Department of Diagnostic Imaging, Brown University School of Medicine, Rhode Island Hospital, 593 Eddy St, Providence, RI 02903, USA.

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http://dx.doi.org/10.1148/radiol.10092219DOI Listing
April 2011

Picture of the month: adrenoleukodystrophy and adrenomyeloneuropathy.

Arch Pediatr Adolesc Med 2010 Jan;164(1):97-8

Rhode Island Hospital, The Warren Alpert Medical School of Brown University, Providence, RI, USA.

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http://dx.doi.org/10.1001/archpediatrics.2009.245-aDOI Listing
January 2010

Genetic syndromes: from clinical suspicion to referral to diagnosis.

Pediatr Ann 2009 Aug;38(8):419-25

Rhode Island Hospital and Alpert Medical School, Brown University, Providene, RI 02906, USA.

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http://dx.doi.org/10.3928/00904481-20090723-04DOI Listing
August 2009

The genetics of twinning: from splitting eggs to breaking paradigms.

Authors:
Natasha Shur

Am J Med Genet C Semin Med Genet 2009 May;151C(2):105-9

Hasbro Children's Hospital, Rhode Island, USA.

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http://dx.doi.org/10.1002/ajmg.c.30204DOI Listing
May 2009

From new screens to discovered genes: the successful past and promising present of single gene disorders.

Am J Med Genet C Semin Med Genet 2007 Feb;145C(1):77-86

Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, NY 10467, USA.

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http://dx.doi.org/10.1002/ajmg.c.30121DOI Listing
February 2007

A surprising postnatal diagnosis.

Obstet Gynecol 2006 Jul;108(1):189-95

Montefiore Medical Center and Albert Einstein College of Medicine.

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http://dx.doi.org/10.1097/01.AOG.0000224706.48265.80DOI Listing
July 2006

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1.

Am J Med Genet A 2003 Aug;120A(4):542-6

Albert Einstein College of Medicine, Bronx, New York, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20093
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http://dx.doi.org/10.1002/ajmg.a.20093DOI Listing
August 2003