A disease‐causing variant in <scp><i>HNRNPH2</i></scp> inherited from an unaffected mother with skewed X‐inactivation

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Jason Homsy, Samir Zaidi, Yufeng Shen et al. · Science · 2015 · 888 citations

Life Sciences, Genetics, Molecular Genetics +17

hnRNP H Is a Component of a Splicing Enhancer Complex That Activates a c- <i>src</i> Alternative Exon in Neuronal Cells

Min‐Yuan Chou, Nanette Rooke, Christoph W. Turck et al. · Molecular and Cellular Biology · 1999 · 253 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2014 · 250 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Heterogeneous Nuclear Ribonucleoproteins H, H′, and F Are Members of a Ubiquitously Expressed Subfamily of Related but Distinct Proteins Encoded by Genes Mapping to Different Chromosomes

Bent Honoré, Hugo Hanne, Vorum Henrik et al. · Journal of Biological Chemistry · 1995 · 121 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

Jennifer Bain, Megan T. Cho, Aida Telegrafi et al. · The American Journal of Human Genetics · 2016 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14