Igor Pediaditakis

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Nikhita Bolar, Christelle Golzio, Martina Živná et al. · The American Journal of Human Genetics · 2016 · 159 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Anna Lindstrand, Stephan Frangakis, Claudia M.B. Carvalho et al. · The American Journal of Human Genetics · 2016 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Simone Sanna‐Cherchi, Kamal Khan, Rik Westland et al. · The American Journal of Human Genetics · 2017 · 106 citations · Full text

Medicine, Genetics, Molecular Genetics +12

The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes

Gentzon Hall, Brandon M. Lane, Kamal Khan et al. · Journal of the American Society of Nephrology · 2018 · 90 citations · Full text

Life Sciences, Genetics, Molecular Biology +15