A homozygousIER3IP1mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

(2011) Cathryn J. Poulton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Mitochondria and neonatal epileptic encephalopathies with suppression burst

(2010) Florence Molinari   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

(2010) Timothy W Yu et al.   NATURE GENETICS

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature*

(2010) M Nuri Ozbek et al.   PEDIATRIC DIABETES

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

(2010) Lina Basel-Vanagaite et al.   PEDIATRIC NEUROLOGY

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

(2009) A. S. Slingerland et al.   DIABETOLOGIA

Many roads lead to primary autosomal recessive microcephaly

(2009) Angela M. Kaindl et al.   PROGRESS IN NEUROBIOLOGY