A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20

(2010) Cheryl DeScipio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)

(2009) T Kroepfl et al.   CLINICAL GENETICS

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

(2009) Ryan N Traylor et al.   Molecular Cytogenetics

Mouse models of humanKCNQ2andKCNQ3mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization

(2008) Nanda A. Singh et al.   JOURNAL OF PHYSIOLOGY-LONDON

Sox18 induces development of the lymphatic vasculature in mice

(2008) Mathias François et al.   NATURE

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics