Publications by authors named "Linda Manwaring"

12Publications

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genet Med 2017 09 2;19(9):1040-1048. Epub 2017 Mar 2.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2016.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581723PMC
September 2017

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Am J Med Genet A 2016 Mar 24;170(3):583-93. Epub 2015 Nov 24.

Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37445DOI Listing
March 2016

Fabry disease in infancy and early childhood: a systematic literature review.

Genet Med 2015 May 18;17(5):323-30. Epub 2014 Sep 18.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2014.120DOI Listing
May 2015

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

Am J Med Genet A 2013 Apr 12;161A(4):711-6. Epub 2013 Mar 12.

Neuromuscular Division, Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.35779DOI Listing
April 2013

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

Am J Med Genet A 2013 Feb 8;161A(2):377-81. Epub 2013 Jan 8.

Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.35650DOI Listing
February 2013

A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1.

Endocr Pract 2011 May-Jun;17(3):e63-7

University of Rochester Medical Center, Rochester, NY, USA.

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http://dx.doi.org/10.4158/EP10291.CRDOI Listing
November 2011

Lysosomal storage diseases.

RN 2008 Jul;71(7):33-7; quiz 38

Washington University School of Medicine, St. Louis, MO, USA.

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July 2008