Medical applications of array CGH and the transformation of clinical cytogenetics.

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36

Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. Am J Hum Genet (2009) 2.07

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00

Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet (2008) 1.90

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A (2008) 1.51

Genomic copy number variation in disorders of cognitive development. J Am Acad Child Adolesc Psychiatry (2010) 1.47

Microarray-based mutation detection in the dystrophin gene. Hum Mutat (2008) 1.39

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet (2007) 1.37

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics (2008) 1.11

A perspective on DNA microarrays in pathology research and practice. Am J Pathol (2007) 1.11

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. Front Genet (2013) 0.96

Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet (2010) 0.94

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med (2012) 0.90

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A (2012) 0.89

Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization. Mol Cytogenet (2008) 0.89

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis. BMC Endocr Disord (2014) 0.88

Canine cytogenetics--from band to basepair. Cytogenet Genome Res (2008) 0.88

A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice. J Genet Couns (2013) 0.81

De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH. Mol Cytogenet (2008) 0.81

Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. J Mol Diagn (2009) 0.81

Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns. Mol Genet Genomic Med (2013) 0.79

Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study. Yonsei Med J (2013) 0.76

Teaching molecular genetics: chapter 4-positional cloning of genetic disorders. Pediatr Nephrol (2007) 0.76

An interstitial 20q11.21 microdeletion causing mild intellectual disability and facial dysmorphisms. Case Rep Genet (2013) 0.75

Prenatal diagnosis of genomic disorders and chromosome abnormalities using array-based comparative genomic hybridization. J Prenat Med (2007) 0.75

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet (2008) 1.77

Array comparative genomic hybridization in global developmental delay. Am J Med Genet B Neuropsychiatr Genet (2008) 1.11

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics (1998) 0.93

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2. Clin Genet (2010) 0.92

Pure trisomy 10p involving an isochromosome 10p. Clin Genet (1999) 0.86

A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma. J Glaucoma (1996) 0.82

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory. Am J Med Genet (2000) 0.79

Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization. Cytogenet Genome Res (2006) 0.75