Jonathan Marquez

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

R. Adam, Isabel Spier, Bixiao Zhao et al. · The American Journal of Human Genetics · 2016 · 242 citations · Full text

Somatic Variant, Recessive Subtype, Medicine +10

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Daniela A. Braun, Svjetlana Lovric, David Schapiro et al. · Journal of Clinical Investigation · 2018 · 138 citations · Full text

Glomerular Disease, Genetics, Renal Pathology +22

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Dervla M. Connaughton, Rufeng Dai, Danielle Owen et al. · The American Journal of Human Genetics · 2020 · 49 citations · Full text

Medicine, Genetics, Developmental Biology +1

SUMOylation of Pax7 is essential for neural crest and muscle development

Zhidong Luan, Ying Liu, Timothy J. Stuhlmiller et al. · Cellular and Molecular Life Sciences · 2012 · 39 citations · Full text

Developmental Biology, Skeletal Muscle, Molecular Biology +7

Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells

Saurabh S. Kulkarni, Jonathan Marquez, Priya Date et al. · eLife · 2021 · 37 citations · Full text