Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

The use of array-CGH in a cohort of Greek children with developmental delay

(2010) Emmanouil Manolakos et al.   Molecular Cytogenetics

MLPA for confirmation of array CGH results and determination of inheritance

(2010) Alison Hills et al.   Molecular Cytogenetics

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome

(2009) Laila Rifai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2q31.2q32.3 deletion syndrome: Report of an adult patient

(2009) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

(2009) Marjolein H Willemsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS