Publications by authors named "Marisa Vineyard"

6Publications

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

Authors:
Dustin Baldridge Jennifer Heeley Marisa Vineyard Linda Manwaring Tomi L Toler Emily Fassi Elise Fiala Sarah Brown Charles W Goss Marcia Willing Dorothy K Grange Beth A Kozel Marwan Shinawi

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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September 2017

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Authors:
Bin Zhang Marcia Willing Dorothy K Grange Marwan Shinawi Linda Manwaring Marisa Vineyard Shashikant Kulkarni Catherine E Cottrell

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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March 2016

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations.

Authors:
Tito Calì Raffaele Lopreiato Joshua Shimony Marisa Vineyard Martina Frizzarin Ginevra Zanni Giuseppe Zanotti Marisa Brini Marwan Shinawi Ernesto Carafoli

J Biol Chem 2015 Jun 7;290(26):16132-41. Epub 2015 May 7.

Venetian Institute of Molecular Medicine (VIMM), 35131 Padova, Italy

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June 2015

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Authors:
Agata Minor Marwan Shinawi Jacob S Hogue Marisa Vineyard Damara R Hamlin Christopher Tan Kirsten Donato Latrice Wysinger Shaun Botes Soma Das Daniela Del Gaudio

Gene 2014 Mar 27;537(2):279-84. Epub 2013 Dec 27.

Department of Human Genetics, University of Chicago, Chicago, IL, USA. Electronic address:

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March 2014

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

Authors:
Hussam Al-Kateb Joshua S Shimony Marisa Vineyard Linda Manwaring Shashikant Kulkarni Marwan Shinawi

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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February 2013

Is low-grade serous ovarian cancer part of the tumor spectrum of hereditary breast and ovarian cancer?

Authors:
Marisa A Vineyard Molly S Daniels Diana L Urbauer Michael T Deavers Charlotte C Sun Eric Boerwinkle Diane C Bodurka David M Gershenson Jessica Crawford Karen H Lu

Gynecol Oncol 2011 Feb 3;120(2):229-32. Epub 2010 Dec 3.

University of Texas Health Science Center, Houston Graduate School of Biomedical Sciences, Houston, TX 77030, USA.

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February 2011