Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report

A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature

(2019) Melinda Zombor et al.   JOURNAL OF APPLIED GENETICS

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

(2018) Imane Cherkaoui Jaouad et al.   BMC Medical Genetics

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability

(2018) Rosaria Nardello et al.   BRAIN & DEVELOPMENT

Autosomal Recessive Primary Microcephaly (MCPH): An Update

(2017) Deborah Morris-Rosendahl et al.   NEUROPEDIATRICS

Glial-Specific Functions of Microcephaly Protein WDR62 and Interaction with the Mitotic Kinase AURKA Are Essential for Drosophila Brain Growth

(2017) Nicholas R. Lim et al.   Stem Cell Reports

Novel splice-site mutation inWDR62revealed by whole-exome sequencing in a Sudanese family with primary microcephaly

(2016) Fatma Bastaki et al.   CONGENITAL ANOMALIES

Novel splice-site mutation inWDR62revealed by whole-exome sequencing in a Sudanese family with primary microcephaly

(2016) Fatma Bastaki et al.   CONGENITAL ANOMALIES

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Severe presentation ofWDR62mutation: Is there a role for modifying genetic factors?

(2014) Cathryn J. Poulton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel single base pair duplication in WDR62 causes primary microcephaly

(2014) Verena Rupp et al.   BMC Medical Genetics

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

(2014) Laura M McDonell et al.   BMC Neurology

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature

(2014) Maja von der Hagen et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

(2014) Marine Barbelanne et al.   Biomed Research International

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

WDR62 missense mutation in a consanguineous family with primary microcephaly

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

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

(2011) V Bhat et al.   CLINICAL GENETICS

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

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

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

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

(2010) Adeline K Nicholas et al.   NATURE GENETICS

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

(2009) S. Passemard et al.   NEUROLOGY

Many roads lead to primary autosomal recessive microcephaly

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

Primary microcephaly: do all roads lead to Rome?

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