Jacob S. Hogue

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht et al. · Human Genetics · 2014 · 124 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies

M. Marttila, Vilma‐Lotta Lehtokari, Steven B. Marston et al. · Human Mutation · 2014 · 108 citations · Full text

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

Margaret Wat, Danielle Veenma, Jacob S. Hogue et al. · Journal of Medical Genetics · 2011 · 91 citations · Full text

Expanding the Clinical Spectrum Associated With<i>GLIS3</i>Mutations

Paul Dimitri, Abdelhadi Habeb, F. Garbuz et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 77 citations · Full text

Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome

Karen W. Gripp, Katherine Robbins, Nara Sobreira et al. · American Journal of Medical Genetics Part A · 2014 · 74 citations · Full text