Julia Vodopiutz

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan et al. · Nature Communications · 2016 · 146 citations · Full text

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

Munis Dündar, Thomas Müller, Qi Zhang et al. · The American Journal of Human Genetics · 2009 · 141 citations · Full text

Thumb Hypoplasia, Genetic Disorder, Genetics +8

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

Andreas Janecke, Peter Heinz‐Erian, Jianyi Yin et al. · Human Molecular Genetics · 2015 · 131 citations · Full text

Engineering, Genetics, Genetic Epidemiology +17

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

Miriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina et al. · The American Journal of Human Genetics · 2013 · 122 citations · Full text

Genetic Disorder, Genetics, Degenerative Disease +4

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome

Thomas Müller, Shuji Mizumoto, Indrajit Suresh et al. · Human Molecular Genetics · 2013 · 110 citations