A novel single base pair duplication in WDR62 causes primary microcephaly

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

(2014) Laura M McDonell et al.   BMC Neurology

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

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

(2013) Salma Awad et al.   HUMAN MOLECULAR GENETICS

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

(2013) Muhammad S. Hussain et al.   HUMAN MOLECULAR GENETICS

Identification and Analysis of a Novel Dimerization Domain Shared by Various Members of c-Jun N-terminal Kinase (JNK) Scaffold Proteins

(2013) Ksenya Cohen-Katsenelson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

(2013) Heba Farag et al.   Orphanet Journal of Rare Diseases

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

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

WDR62 missense mutation in a consanguineous family with primary microcephaly

(2012) Carlos A. Bacino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

(2012) A. Genin et al.   HUMAN MOLECULAR GENETICS

WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression

(2012) M. A. Bogoyevitch et al.   JOURNAL OF CELL SCIENCE

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

(2012) Mazhar Mustafa Memon et al.   MOLECULAR BIOLOGY REPORTS

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria

(2011) David R. Murdock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

(2011) Rizwana Kousar et al.   BMC Neurology

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

(2011) V Bhat et al.   CLINICAL GENETICS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A primary microcephaly protein complex forms a ring around parental centrioles

(2011) Joo-Hee Sir et al.   NATURE GENETICS

Reorganizing the protein space at the Universal Protein Resource (UniProt)

(2011)   NUCLEIC ACIDS RESEARCH

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

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

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

(2010) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

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

A common mechanism for microcephaly

(2010) Bernd Wollnik   NATURE GENETICS

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

(2010) Adeline K Nicholas et al.   NATURE GENETICS

Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

(2009) Arun Kumar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Effect of Inbreeding on the Distribution of Compound Heterozygotes: A Lesson from Lipase H Mutations in Autosomal Recessive Woolly Hair/Hypotrichosis

(2009) Lynn Petukhova et al.   HUMAN HEREDITY

A Novel c-Jun N-terminal Kinase (JNK)-binding Protein WDR62 Is Recruited to Stress Granules and Mediates a Nonclassical JNK Activation

(2009) Tanya Wasserman et al.   MOLECULAR BIOLOGY OF THE CELL

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS