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Marisa Vineyard

Washington University in St. Louis

7

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179

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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

2015 Journal of Biological Chemistry
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Molecular and phenotypic characterization of atypical Williams–Beuren syndrome

2014 Clinical Genetics
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Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

2014 Gene
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NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

2013 American Journal of Medical Genetics Part A
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Is low-grade serous ovarian cancer part of the tumor spectrum of Hereditary Breast and Ovarian Cancer?

2011 Gynecologic Oncology
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