Marisa Vineyard

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

Dustin Baldridge, Jennifer Heeley, Marisa Vineyard et al. · Genetics in Medicine · 2017 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

Bin Zhang, Marcia Willing, Dorothy K. Grange et al. · American Journal of Medical Genetics Part A · 2015 · 68 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Tito Calí, Raffaele Lopreiato, Joshua S. Shimony et al. · Journal of Biological Chemistry · 2015 · 51 citations · Full text

Life Sciences, Neurology, Neuroscience +15

<i>NR2F1</i> haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

Hussam Al‐Kateb, Joshua S. Shimony, Marisa Vineyard et al. · American Journal of Medical Genetics Part A · 2013 · 47 citations

Medicine, Genetics, Molecular Genetics +14

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

Agata Minor, Marwan Shinawi, Jacob S. Hogue et al. · Gene · 2014 · 36 citations

Life Sciences, Genetics, Molecular Genetics +6