Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

(2021) Ashley Vasko et al.   Genes

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

(2018) Eline van der Sluijs et al.   GENETICS IN MEDICINE

Gonadal mosaicism inARID1Bgene causes intellectual disability and dysmorphic features in three siblings

(2015) Salma Ben-Salem et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

(2012) Samantha A. Schrier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

(2011) Diana C Hargreaves et al.   CELL RESEARCH

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS