Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

Rare exonic deletions of theRBFOX1gene increase risk of idiopathic generalized epilepsy

(2013) Dennis Lal et al.   EPILEPSIA

Rbfox1 Downregulation and Altered Calpain 3 Splicing by FRG1 in a Mouse Model of Facioscapulohumeral Muscular Dystrophy (FSHD)

(2013) Mariaelena Pistoni et al.   PLoS Genetics

Rare inheritedA2BP1deletion in a proband with autism and developmental hemiparesis

(2012) L.K. Davis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic Mapping of Vascular Calcified Plaque Loci on Chromosome 16p in European Americans from the Diabetes Heart Study

(2011) Allison B. Lehtinen et al.   ANNALS OF HUMAN GENETICS

Complex Congenital Heart Defects in Association with Maternal Diabetes and Partial Deletion of theA2BP1Gene

(2011) Seema Lale et al.   Fetal and Pediatric Pathology

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

Evaluation of A2BP1 as an Obesity Gene

(2010) L. Ma et al.   DIABETES

A2BP1 as a novel susceptible gene for primary biliary cirrhosis in Japanese patients

(2010) Satoru Joshita et al.   HUMAN IMMUNOLOGY

Validation of the Agilent 244K Oligonucleotide Array–Based Comparative Genomic Hybridization Platform for Clinical Cytogenetic Diagnosis

(2009) Shihui Yu et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

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

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

Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept

(2009) M. L. Hamshere et al.   BRITISH JOURNAL OF PSYCHIATRY

Quantitative Real-Time Polymerase Chain Reaction for the Verification of Genomic Imbalances Detected by Microarray-Based Comparative Genomic Hybridization

(2009) Shihui Yu et al.   Genetic Testing and Molecular Biomarkers

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

A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium

(2009) G Zhai et al.   JOURNAL OF MEDICAL GENETICS