Elizabeth W McPherson

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Elizabeth W McPherson

Publications by authors named "Elizabeth W McPherson"

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11Publications

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Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

PLoS One 2016 8;11(12):e0167847. Epub 2016 Dec 8.

Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, United States of America.

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July 2017

SeqHBase: a big data toolset for family based sequencing data analysis.

J Med Genet 2015 Apr 13;52(4):282-8. Epub 2015 Jan 13.

Utah Foundation for Biomedical Research, Provo, Utah, USA Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California, USA Department of Psychiatry, University of Southern California, Los Angeles, California, USA.

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April 2015

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:

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June 2013

Intestinal ganglioneuromatosis: unusual presentation of Cowden syndrome resulting in delayed diagnosis.

Am J Med Genet A 2013 May 20;161A(5):1085-90. Epub 2013 Mar 20.

Department of Pediatrics, Marshfield Clinic, Marshfield, WI 54449, USA.

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May 2013

Patient and family experiences and opinions on adding 22q11 deletion syndrome to the newborn screen.

J Genet Couns 2010 Oct 22;19(5):526-34. Epub 2010 May 22.

Marshfield Clinic, Marshfield, WI, USA.

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October 2010

Newborn screening programs: should 22q11 deletion syndrome be added?

Genet Med 2010 Mar;12(3):135-44

Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA.

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March 2010

Janiceps conjoined twins with extreme asymmetry: case report with complete autopsy and histopathologic findings.

Pediatr Dev Pathol 2009 Sep-Oct;12(5):374-82

Department of Pathology, Division of Pediatric Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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December 2009

Variable outcomes in mosaic trisomy 16: five case reports and literature analysis.

Prenat Diagn 2006 May;26(5):454-61

School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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May 2006

A novel gene mutation in an infant with cranial dysmorphology and orbital-maxillary hypoplasia.

J Oral Maxillofac Surg 2004 May;62(5):622-5

Department of Oral and Maxillofacial Surgery, University of Pittsburgh, University of Pittsburgh Medical Center, PA 15213, USA.

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May 2004