Stephanie Sacharow

Stephanie Sacharow

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Stephanie Sacharow

Stephanie Sacharow

Publications by authors named "Stephanie Sacharow"

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21Publications

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Desmosterolosis presenting with multiple congenital anomalies.

Eur J Med Genet 2018 Mar 23;61(3):152-156. Epub 2017 Nov 23.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173016
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http://dx.doi.org/10.1016/j.ejmg.2017.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963269PMC
March 2018

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.

Mol Genet Metab 2018 03 20;123(3):317-325. Epub 2017 Dec 20.

Department of Biochemistry & Molecular Biology, Genetics Institute, University of Florida College of Medicine, 1200 Newell Drive, FL 32608, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.12.433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832599PMC
March 2018

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray.

Mol Cytogenet 2013 Sep 20;6(1):38. Epub 2013 Sep 20.

Department of Pathology and Mailman Center for Child Development, Room 7050, University of Miami Miller School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136, USA.

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http://dx.doi.org/10.1186/1755-8166-6-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853444PMC
September 2013

Clinical comparison of overlapping deletions of 19p13.3.

Am J Med Genet A 2013 May;161A(5):1110-6

Laboratory Corporation of America/Dynacare, Department of Cytogenetics, Seattle, WA 98122, USA.

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http://dx.doi.org/10.1002/ajmg.a.35923DOI Listing
May 2013

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Am J Med Genet A 2013 Apr 12;161A(4):822-8. Epub 2013 Mar 12.

Department of Cytogenetics, Laboratory Corporation of America, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1002/ajmg.a.35699DOI Listing
April 2013

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.

Am J Med Genet A 2012 Mar 3;158A(3):547-52. Epub 2012 Feb 3.

Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.

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http://dx.doi.org/10.1002/ajmg.a.34436DOI Listing
March 2012

A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia.

J Child Neurol 2011 Aug 13;26(8):1005-8. Epub 2011 May 13.

Department of Neurology, Leonard M. Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

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http://dx.doi.org/10.1177/0883073810394846DOI Listing
August 2011

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment.

Genet Med 2009 Mar;11(3):169-75

Cardiovascular Division, Miller School of Medicine, University of Miami, 1120 NW 14th Street, Miami, FL 33136, USA.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e318193076f
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http://dx.doi.org/10.1097/GIM.0b013e318193076fDOI Listing
March 2009

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

Hum Mutat 2007 Nov;28(11):1124-32

The Dr. John T. Macdonald Foundation Center for Medical Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

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http://dx.doi.org/10.1002/humu.20581DOI Listing
November 2007