Andrew R. Cullinane

The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

Helen R. Dawe, Ursula M. Smith, Andrew R. Cullinane et al. · Human Molecular Genetics · 2006 · 273 citations · Full text

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker et al. · Nature Genetics · 2010 · 178 citations · Full text

Urology, Autoimmune Disease, Cholestasis Syndrome Phenotype +13

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

A Congenital Neutrophil Defect Syndrome Associated with Mutations in<i>VPS45</i>

Thierry Vilboux, Atar Lev, May Christine V. Malicdan et al. · New England Journal of Medicine · 2013 · 142 citations · Full text

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Thierry Vilboux, Dan Doherty, Ian A. Glass et al. · Genetics in Medicine · 2017 · 129 citations · Full text

Mendelian Disorder, Joubert Syndrome, Genetic Disorder +10