A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygousKATNB1mutation

Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

(2014) Muhammad Sajid Hussain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier 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

Mutation inPLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

(2014) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

(2014) Carol-Anne Martin et al.   NATURE GENETICS

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

(2014) Wen F. Hu et al.   NEURON

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

(2014) Ketu Mishra-Gorur et al.   NEURON

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

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

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

Spindle orientation in mammalian cerebral cortical development

(2012) Madeline A Lancaster et al.   CURRENT OPINION IN NEUROBIOLOGY

Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

(2012) Andrew Dauber et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A primary microcephaly protein complex forms a ring around parental centrioles

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

CtIP Mutations Cause Seckel and Jawad Syndromes

(2011) Per Qvist et al.   PLoS Genetics

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

(2010) Kaya Bilgüvar et al.   NATURE

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

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

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

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

Neurogenesis and asymmetric cell division

(2008) Weimin Zhong et al.   CURRENT OPINION IN NEUROBIOLOGY

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE