Lilian Bomme Ousager

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Christiane Zweier, Eiko K. de Jong, Markus Zweier et al. · The American Journal of Human Genetics · 2009 · 343 citations · Full text

Molecular Neuroscience, Developmental Biology, Genetic Disorder +8

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 299 citations · Full text

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

Julia Pagel, Karin Beutel, Kai Lehmberg et al. · Blood · 2012 · 162 citations · Full text

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15

von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

Marie Louise Mølgaard Binderup, Maja Patricia Smerdel, Line Borgwadt et al. · European Journal of Medical Genetics · 2022 · 132 citations · Full text