Barbara Oehl‐Jaschkowitz

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna et al. · The American Journal of Human Genetics · 2010 · 238 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo et al. · Journal of Medical Genetics · 2018 · 183 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Next-generation sequencing in X-linked intellectual disability

Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl et al. · European Journal of Human Genetics · 2015 · 149 citations

Life Sciences, Genetics, Molecular Genetics +14

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

47 patients with FLNA associated periventricular nodular heterotopia

Max Lange, Burkhard S. Kasper, Axel Bohring et al. · Orphanet Journal of Rare Diseases · 2015 · 106 citations · Full text

Life Sciences, Genetics, Neurology +17