Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

(2012) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

(2012) Alessia Indrieri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation

(2011) Shozo Honda et al.   JOURNAL OF HUMAN GENETICS

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

(2010) Annabel C. Whibley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner

(2010) Martin J. Law et al.   CELL

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

(2009) Dorien Lugtenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Submicroscopic Duplication of the Wolf-Hirschhorn Critical Region with a 4p Terminal Deletion

(2009) M. Roselló et al.   CYTOGENETIC AND GENOME RESEARCH

Genetic and epigenetic defects in mental retardation

(2008) Jamie M. Kramer et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY