Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

(2015) Hanan E. Shamseldin et al.   GENOME BIOLOGY

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

(2014) Salma Ben-Salem et al.   METABOLIC BRAIN DISEASE

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

(2013) Elizabeth K. Ruzzo et al.   NEURON

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

(2012) Mohammed Zein Seidahmed et al.   BMC Neurology

Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance

(2011) Y. Adachi et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

(2010) Lihadh Al-Gazali et al.   HUMAN MUTATION