Published in Gene on July 27, 2013
A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder. Mol Cytogenet (2014) 0.79
Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations. Mol Cytogenet (2015) 0.75
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med (2011) 3.22
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet (2007) 1.30
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities. Am J Med Genet A (2013) 0.87
Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome? Am J Med Genet A (2008) 0.82
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. Am J Med Genet A (2013) 0.80
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. Am J Med Genet A (2011) 0.78
FGFR3 amplification in the absence of IGH@-FGFR3 fusion t(4;14) in myeloma. Cancer Genet Cytogenet (2009) 0.77
B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis. Pediatr Blood Cancer (2010) 0.75
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. Case Rep Genet (2011) 0.75
Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic. Cleft Palate Craniofac J (2012) 0.75