Juliane Najm

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

Hyung‐Goo Kim, Shotaro Kishikawa, Anne W. Higgins et al. · The American Journal of Human Genetics · 2008 · 579 citations · Full text

Syndromic Autism, Immunology, Autism +3

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Juliane Najm, Denise Horn, Isabella Wimplinger et al. · Nature Genetics · 2008 · 284 citations

Neuro-oncology, Developmental Biology, Ependyma +7

Refining the phenotype of <i>α‐1a Tubulin </i>(<i>TUBA1A</i>) mutation in patients with classical lissencephaly

DJ Morris‐Rosendahl, Juliane Najm, A.M.A. Lachmeijer et al. · Clinical Genetics · 2008 · 91 citations

Developmental Anomaly, Classical Lissencephaly, Recurrent Mutation +11

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

Stefanie Spiegler, Juliane Najm, Jian Liu et al. · Molecular Genetics & Genomic Medicine · 2014 · 71 citations · Full text

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