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Hisham Megahed

Publications -  4
Citations -  511

Hisham Megahed is an academic researcher. The author has contributed to research in topics: Exome & Internal medicine. The author has an hindex of 2, co-authored 4 publications receiving 443 citations.

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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

TL;DR: Using whole-exome sequencing in combination with network analysis, 18 previously unknown putative HSP genes are identified and validated and link HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.
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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

TL;DR: The findings identify CTNNA2 as the first catenin family member with biallelic mutations in humans, causing a new pachygyria syndrome linked to actin regulation, and uncover a key factor involved in ARP2/3 repression in neurons.
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Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.

TL;DR: Wolf–Hirschhorn syndrome (WHS) is a multiple congenital anomalies/intellectual disability syndrome caused by partial loss of genetic material from the distal portion of the short arm of chromosome.
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Clinical Implications of S100A12 and Resolvin D1 Serum Levels, and Related Genes in Children with Familial Mediterranean Fever

TL;DR: In this paper, the role of S100A12 and resolvin D1-related genes and serum levels in the diagnosis and detection of subclinical inflammation in children with familial Mediterranean fever (FMF) during the quiescent stage of the disease was studied.