Investigating microcephaly

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

(2012) Michael B. Bober et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

(2012) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

(2012) Tomoo Ogi et al.   PLoS Genetics

The shortest of the short: Pericentrin mutations and beyond

(2011) Anita Rauch   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations

(2011) Max A Tischfield et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mechanisms and pathways of growth failure in primordial dwarfism

(2011) A. Klingseisen et al.   GENES & DEVELOPMENT

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

(2010) S. El Chehadeh et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) Adeline K Nicholas et al.   NATURE GENETICS

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2009) S. Ashwal et al.   NEUROLOGY

Many roads lead to primary autosomal recessive microcephaly

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

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION