ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

(2019) Bettina E. Mucha et al.   GENETICS IN MEDICINE

Genetic recovery of ErbB4 in adulthood partially restores brain functions in null mice

(2018) Hongsheng Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Association between ErbB4 single nucleotide polymorphisms and susceptibility to schizophrenia

(2017) Yanguo Feng et al.   MEDICINE

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

(2016) Paul R. Kasher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

(2016) Chelsea Lowther et al.   GENETICS IN MEDICINE

Mutations inHECW2are associated with intellectual disability and epilepsy

(2016) Jonatan Halvardson et al.   JOURNAL OF MEDICAL GENETICS

Genetic Labeling Reveals Novel Cellular Targets of Schizophrenia Susceptibility Gene: Distribution of GABA and Non-GABA ErbB4-Positive Cells in Adult Mouse Brain

(2014) J. C. Bean et al.   JOURNAL OF NEUROSCIENCE

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

(2013) Yuji Takahashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new single gene deletion on 2q34:ERBB4is associated with intellectual disability

(2013) Jurate Kasnauskiene et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

ErbB4 reduces synaptic GABAA currents independent of its receptor tyrosine kinase activity

(2013) R. M. Mitchell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

(2012) Aparna Prasad et al.   G3-Genes Genomes Genetics

Neuregulin 1 represses limbic epileptogenesis through ErbB4 in parvalbumin-expressing interneurons

(2011) Guo-He Tan et al.   NATURE NEUROSCIENCE

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

(2008) Liesbeth Backx et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE