Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

(2015) Ana Carolina S. Fonseca et al.   Molecular Cytogenetics

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

(2015) Dennis Lal et al.   PLoS Genetics

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Beyond the single nucleotide variant in epilepsy genetics

(2014) Ingrid E. Scheffer et al.   Nature Reviews Neurology

Genetics of the epilepsies

(2013) Ingo Helbig et al.   CURRENT OPINION IN NEUROLOGY

RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability

(2013) Maria Giuseppina Baglietto et al.   European Journal of Medical Genetics

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneurons

(2013) Hong Liu et al.   Nature Communications

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

(2012) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

(2012) Magdalena Bartnik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

(2012) Elise Boudry-Labis et al.   European Journal of Medical Genetics

Gene-Based Analysis of Regionally Enriched Cortical Genes in GWAS Data Sets of Cognitive Traits and Psychiatric Disorders

(2012) Kari M. Ersland et al.   PLoS One

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

RORβ Induces Barrel-like Neuronal Clusters in the Developing Neocortex

(2011) Denis Jabaudon et al.   CEREBRAL CORTEX

Genetically complex epilepsies, copy number variants and syndrome constellations

(2010) Heather C Mefford et al.   Genome Medicine

Evidence for genetic association of RORB with bipolar disorder

(2009) Casey L McGrath et al.   BMC Psychiatry

Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences

(2009) Guido Rubboli et al.   EPILEPSIA

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

TWIST microdeletion identified by array CGH in a patient presenting Saethre–Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7

(2007) Caroline Schluth-Bolard et al.   European Journal of Medical Genetics