Mark T. Handley

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos et al. · The American Journal of Human Genetics · 2011 · 168 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +7

Rab18 and a Rab18 GEF complex are required for normal ER structure

Andreas Gerondopoulos, Ricardo Bastos, Shin‐ichiro Yoshimura et al. · The Journal of Cell Biology · 2014 · 144 citations · Full text

Protein Function, Signal Transduction, Normal Er Structure +14

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Ryan P. Liegel, Mark T. Handley, Adam Ronchetti et al. · The American Journal of Human Genetics · 2013 · 132 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +8

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Insulin-Like Growth Factor Binding Protein-5 Is a Target of Matrix Metalloproteinase-7: Implications for Epithelial-Mesenchymal Signaling

Elaine Hemers, Cédric Duval, Catherine McCaig et al. · Cancer Research · 2005 · 98 citations

Mmp-7 Cleavage, Immunology, Pathology +19