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Advanced filters: Author: Laura Gogoll Clear advanced filters

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Developmental and epileptic encephalopathies are devastating neurological disorders. Here, the authors establish a cohort of patients with variants in the gene DENND5A and use human stem cells to discover a disease mechanism involving altered cell division.

Emily Banks
Vincent Francis
Peter S. McPherson
ResearchOpen Access22 Aug 2024
Nature Communications

Volume: 15, P: 1-22
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

Hannes Steinkellner
Julia Etzler
Franco Laccone
Research03 Dec 2014
European Journal of Human Genetics

Volume: 23, P: 1186-1191
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Sorina M. Papuc
Lucia Abela
Anita Rauch
ResearchOpen Access14 Dec 2018
European Journal of Human Genetics

Volume: 27, P: 408-421
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Paranchai Boonsawat
Pascal Joset
Anita Rauch
ResearchOpen Access07 Mar 2019
Genetics in Medicine

Volume: 21, P: 2043-2058

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