Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Terminal 3p deletions in two families-Correlation between molecular karyotype and phenotype

(2010) Pia Pohjola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Microarray based analysis of 3p25-p26 deletions (3p- syndrome)

(2009) Salwati Shuib et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Terminal 3p deletions: Phenotypic variability, chromosomal non‐penetrance, or gene modification?

(2008) John C.K. Barber   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE