A novel nonsenseCDK5RAP2mutation in a Somali child with primary microcephaly and sensorineural hearing loss

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

(2012) Muhammad Sajid Hussain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

(2011) Roxana Kariminejad et al.   HUMAN MUTATION

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

(2011) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Identification of incestuous parental relationships by SNP-based DNA microarrays

(2011) CP Schaaf et al.   LANCET

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

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

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

(2010) S. B. Lizarraga et al.   DEVELOPMENT

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

(2010) H. Darvish et al.   JOURNAL OF MEDICAL GENETICS

Adaptive Evolution of Four Microcephaly Genes and the Evolution of Brain Size in Anthropoid Primates

(2010) S. H. Montgomery et al.   MOLECULAR BIOLOGY AND EVOLUTION

WDR62 is associated with the spindle pole and is mutated in human microcephaly

(2010) Adeline K Nicholas et al.   NATURE GENETICS

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

(2009) Xuezhong Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS