Maja Di Rocco

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

Paul Gissen, Colin A. Johnson, Neil V. Morgan et al. · Nature Genetics · 2004 · 339 citations

Life Sciences, Molecular Biology, Molecular Genetics +11

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Nathalie Dagoneau, Déborah Scheffer, Céline Huber et al. · The American Journal of Human Genetics · 2004 · 187 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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 · 180 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

Marcella Zollino, Cristina Di Stefano, Giuseppe Zampino et al. · American Journal of Medical Genetics · 2000 · 161 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar et al. · Nature Genetics · 2011 · 156 citations

Life Sciences, Genetics, Molecular Genetics +10