Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

(2021) Muhammad Imran Naseer et al.   Frontiers in Pediatrics

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

(2020) Vincent Picher-Martel et al.   BMC Neurology

A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons

(2020) Lillian Garrett et al.   Translational Psychiatry

A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report

(2020) Afsaneh BAZGIR et al.   Iranian Journal of Public Health

An update of pathogenic variants in ASPM , WDR62, CDK5RAP2 , STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

(2020) Sajida Rasool et al.   Molecular Genetics & Genomic Medicine

Dissecting the Genetic and Etiological Causes of Primary Microcephaly

(2020) Francesca Jean et al.   Frontiers in Neurology

Autosomal Recessive Primary Microcephaly (MCPH): An Update

(2017) Deborah Morris-Rosendahl et al.   NEUROPEDIATRICS

Investigating microcephaly

(2013) C. G. Woods et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Compound heterozygous ASPM mutations in Pakistani MCPH families

(2009) Farooq Muhammad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A