New microdeletion and microduplication syndromes: a comprehensive review

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

(2013) Nora Urraca et al.   Autism Research

A phenotype map for 14q32.3 terminal deletions

(2012) Hartmut Engels et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion and Microduplication Syndromes

(2012) Anja Weise et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity

(2011) Kristen L. Deak et al.   CLINICS IN LABORATORY MEDICINE

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome

(2010) Isabel Filges et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

(2009) V Malan et al.   JOURNAL OF MEDICAL GENETICS

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

(2009) Jill A. Rosenfeld et al.   Journal of Neurodevelopmental Disorders

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

(2009) Jill A. Rosenfeld et al.   PLoS One

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

(2008) S Jaillard et al.   JOURNAL OF MEDICAL GENETICS