Exon-disrupting deletions ofNRXN1in idiopathic generalized epilepsy

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

(2012) Linh Duong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The genetic variability and commonality of neurodevelopmental disease

(2012) Bradley P. Coe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A genetic model for neurodevelopmental disease

(2012) Bradley P Coe et al.   CURRENT OPINION IN NEUROBIOLOGY

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

(2012) et al.   HUMAN MOLECULAR GENETICS

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

(2011) Victoria Harrison et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

(2011) Anne Gregor et al.   BMC Medical Genetics

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

(2011) Rachel D. Burnside et al.   HUMAN GENETICS

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

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

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

(2009) A Ingason et al.   MOLECULAR PSYCHIATRY

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

The 5-HT7 receptor and disorders of the nervous system: an overview

(2009) Peter B. Hedlund   PSYCHOPHARMACOLOGY

Neurexin 1 (NRXN1) Deletions in Schizophrenia

(2009) G. Kirov et al.   SCHIZOPHRENIA BULLETIN

A 15q13.3 microdeletion segregating with autism

(2008) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of the neurexin 1 gene is associated with schizophrenia

(2008) Dan Rujescu et al.   HUMAN MOLECULAR GENETICS

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

Navigating the channels and beyond: unravelling the genetics of the epilepsies

(2008) Ingo Helbig et al.   LANCET NEUROLOGY

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE