Vanessa A. van Rahden

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

Alessia Indrieri, Vanessa A. van Rahden, Valeria Tiranti et al. · The American Journal of Human Genetics · 2012 · 170 citations · Full text

Disease Mechanism, Mitochondrial Function, Cutaneous Biology +9

The Legionella Effector RidL Inhibits Retrograde Trafficking to Promote Intracellular Replication

Ivo Finsel, Curdin Ragaz, Christine Hoffmann et al. · Cell Host & Microbe · 2013 · 152 citations · Full text

Virulence Factor, Intracellular Replication, Pathogenesis +5

Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

Vanessa A. van Rahden, Erika Fernández‐Vizarra, Malik Alawi et al. · The American Journal of Human Genetics · 2015 · 103 citations · Full text

Mitochondrial Respiratory Chain, Mendelian Disorder, Mitochondrial Biogenesis +11

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module

Vanessa A. van Rahden, K. Gerhard Brand, Juliane Najm et al. · Human Molecular Genetics · 2012 · 41 citations · Full text

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

Vanessa A. van Rahden, Isabella Rau, Sigrid Fuchs et al. · Orphanet Journal of Rare Diseases · 2014 · 33 citations · Full text