Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly

(2016) Sulman Basit et al.   HUMAN GENETICS

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)

(2015) Deborah J. Morris-Rosendahl et al.   MOLECULAR AND CELLULAR PROBES

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

(2015) Vafa Alakbarzade et al.   NATURE GENETICS

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

(2014) D. Smedley et al.   BIOINFORMATICS

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

(2014) Shinya Yamamoto et al.   CELL

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

(2014) Muzammil A. Khan et al.   HUMAN MOLECULAR GENETICS

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

(2014) Marine Barbelanne et al.   Biomed Research International

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

(2012) T. Kamphans et al.   BIOINFORMATICS

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

(2011) Saqib Mahmood et al.   Orphanet Journal of Rare Diseases

The molecular landscape of ASPM mutations in primary microcephaly

(2008) A K Nicholas et al.   JOURNAL OF MEDICAL GENETICS