Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

The Genetics of Primary Microcephaly

(2018) Divya Jayaraman et al.   Annual Review of Genomics and Human Genetics

A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies

(2018) David K. Breslow et al.   NATURE GENETICS

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

(2018) Anne Gregor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Confirmation of mutations inPROSCas a novel cause of vitamin B6-dependent epilepsy

(2017) Barbara Plecko et al.   JOURNAL OF MEDICAL GENETICS

Diagnostic Approach to Primary Microcephaly

(2017) Maja von der Hagen   NEUROPEDIATRICS

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

(2016) J. Thevenon et al.   CLINICAL GENETICS

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

(2015) Kacie N. Riley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

(2015) Nicolas Chatron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

(2015) Patrick Rump et al.   BMC Medical Genomics

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

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

(2015) Andrew Kodani et al.   eLife

Genetic disorders associated with postnatal microcephaly

(2014) Laurie E. Seltzer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Congenital microcephaly

(2014) Diana Alcantara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The Diverse Genetic Landscape of Neurodevelopmental Disorders

(2014) Wen F. Hu et al.   Annual Review of Genomics and Human Genetics

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

The clinical significance of small copy number variants in neurodevelopmental disorders

(2014) Reza Asadollahi et al.   JOURNAL OF MEDICAL GENETICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

A Switch From Canonical to Noncanonical Wnt Signaling Mediates Early Differentiation of Human Neural Stem Cells

(2014) Nora Bengoa-Vergniory et al.   STEM CELLS

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Investigating microcephaly

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

An Asymmetrically Localized Staufen2-Dependent RNA Complex Regulates Maintenance of Mammalian Neural Stem Cells

(2012) John P. Vessey et al.   Cell Stem Cell

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner

(2012) Huai-Xiang Hao et al.   NATURE

Mitochondrial genomes gleaned from human whole-exome sequencing

(2012) Ernesto Picardi et al.   NATURE METHODS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Essential Role for the d-Asb11 cul5 Box Domain for Proper Notch Signaling and Neural Cell Fate Decisions In Vivo

(2010) Maria A. Sartori da Silva et al.   PLoS One

Mutation update for theCSB/ERCC6andCSA/ERCC8genes involved in Cockayne syndrome

(2009) V. Laugel et al.   HUMAN MUTATION

Acquired Microcephaly: Causes, Patterns, Motor and IQ Effects, and Associated Growth Changes

(2009) P. S. Baxter et al.   PEDIATRICS

Wnt Signaling Requires Retromer-Dependent Recycling of MIG-14/Wntless in Wnt-Producing Cells

(2007) Pei-Tzu Yang et al.   DEVELOPMENTAL CELL