Gifty Bhat

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 108 citations · Full text

Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

Rasim Özgür Rosti, Bethany N. Sotak, Stephanie Bielas et al. · Journal of Medical Genetics · 2017 · 83 citations

Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

Areeg El‐Gharbawy, Gifty Bhat, Jaime Murillo et al. · Molecular Genetics and Metabolism · 2011 · 53 citations · Full text

Vascular Disease, Cardiovascular Disease, Pathology +6

A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

Isaac Marin‐Valencia, Gaia Novarino, Anide Johansen et al. · Journal of Medical Genetics · 2017 · 48 citations · Full text

<i>PYCR2</i>Mutations cause a lethal syndrome of microcephaly and failure to thrive

Maha S. Zaki, Gifty Bhat, Tipu Sultan et al. · Annals of Neurology · 2016 · 43 citations · Full text