A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing theHMGB1andKATNAL1genes

De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

(2012) Emilia Cirillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microtubule-severing enzymes at the cutting edge

(2012) D. J. Sharp et al.   JOURNAL OF CELL SCIENCE

HMGB1 in Development and Diseases of the Central Nervous System

(2012) Ping Fang et al.   MOLECULAR NEUROBIOLOGY

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features

(2011) Vazken M. Der Kaloustian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of 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

Meta-analysis of genome-wide association studies for personality

(2010) M H M de Moor et al.   MOLECULAR PSYCHIATRY

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

(2009) Chad R. Haldeman-Englert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS