Published in Am J Med Genet C Semin Med Genet on November 15, 2007
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet (2009) 3.01
Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet (2008) 1.90
An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing. J Genet Couns (2014) 1.63
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum Mol Genet (2012) 1.50
The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility. Fertil Steril (2013) 1.49
Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases. Mol Cytogenet (2011) 1.42
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet (2011) 1.25
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. Mol Cytogenet (2010) 1.24
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet (2010) 1.16
Molecular cytogenetics and cytogenomics of brain diseases. Curr Genomics (2008) 1.12
Application of a target array comparative genomic hybridization to prenatal diagnosis. BMC Med Genet (2010) 1.04
Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet (2012) 1.03
Discovery of variants unmasked by hemizygous deletions. Eur J Hum Genet (2012) 1.02
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Mol Cytogenet (2010) 0.97
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics (2009) 0.94
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn (2013) 0.94
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat (2012) 0.93
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Mol Cytogenet (2008) 0.93
DIA1R is an X-linked gene related to Deleted In Autism-1. PLoS One (2011) 0.90
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med (2012) 0.90
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics (2011) 0.88
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease. Mol Cytogenet (2014) 0.87
Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities. Am J Hum Genet (2015) 0.85
Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes. Case Rep Genet (2012) 0.85
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. Mol Cytogenet (2014) 0.85
Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Mol Cytogenet (2013) 0.84
"Idiopathic" mental retardation and new chromosomal abnormalities. Ital J Pediatr (2010) 0.83
Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability. Mol Cytogenet (2013) 0.83
Detection limit of intragenic deletions with targeted array comparative genomic hybridization. BMC Genet (2013) 0.83
Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia. Am J Med Genet A (2010) 0.82
Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes. PLoS One (2013) 0.81
"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes. Mol Cytogenet (2012) 0.80
Use of array genomic hybridization technology for constitutional genetic diagnosis in Canada. Paediatr Child Health (2011) 0.78
Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients. Mol Cytogenet (2015) 0.77
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
Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities. Genomics Insights (2010) 0.75
Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients. Mol Cytogenet (2016) 0.75
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation. Int J Mol Sci (2017) 0.75
A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain. Clin Case Rep (2015) 0.75
Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization. Mol Cytogenet (2014) 0.75
Severe Neurological Phenotype in a Girl with Xp22.31 Triplication. Mol Syndromol (2017) 0.75
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet (2010) 2.52
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A (2005) 2.44
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr (2006) 2.41
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med (2007) 1.84
Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A (2006) 1.83
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med (2010) 1.64
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH. Genet Med (2009) 1.55
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS One (2009) 1.54
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn (2012) 1.54
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord (2010) 1.51
Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr (2004) 1.51
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A (2008) 1.49
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet (2011) 1.43
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet (2003) 1.42
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn (2008) 1.41
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenat Diagn (2010) 1.40
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet Med (2010) 1.36
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report. Mol Cytogenet (2009) 1.30
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn (2009) 1.30
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med (2007) 1.23
Developing a sustainable process to provide quality control materials for genetic testing. Genet Med (2005) 1.23
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med (2011) 1.22
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn (2012) 1.21
The clinical utility of enhanced subtelomeric coverage in array CGH. Am J Med Genet A (2007) 1.20
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet (2010) 1.16
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci (2008) 1.14
Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. Genet Med (2007) 1.14
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat Diagn (2006) 1.14
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med Genet A (2010) 1.11
A cytogeneticist's perspective on genomic microarrays. Hum Reprod Update (2004) 1.10
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A (2012) 1.08
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Invest Ophthalmol Vis Sci (2006) 1.08
Investigation of NRXN1 deletions: clinical and molecular characterization. Am J Med Genet A (2013) 1.06
Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes. Cancer Genet (2011) 1.05
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. Genet Med (2009) 1.05
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet (2011) 1.05
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet (2009) 1.04
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet (2005) 1.04
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Neurogenetics (2012) 1.04
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Hum Genet (2010) 1.03
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet (2012) 1.03
Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes. Exp Eye Res (2005) 1.01
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics (2013) 1.01
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. Genome Res (2011) 1.01
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat (2011) 1.01
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes. Mol Cytogenet (2010) 1.00
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. Eur J Hum Genet (2011) 1.00
Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations. Hum Genet (2006) 0.99
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. Eur J Hum Genet (2011) 0.98
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. Am J Med Genet A (2011) 0.97
Array-based comparative genomic hybridization in clinical diagnosis. Expert Rev Mol Diagn (2005) 0.97
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet (2005) 0.96
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. PLoS One (2010) 0.95
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet (2010) 0.95
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy. Am J Med Genet A (2009) 0.95
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate. Am J Med Genet A (2011) 0.94
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients. Am J Med Genet A (2013) 0.94
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat (2012) 0.93
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A (2006) 0.93
Mouse model implicates GNB3 duplication in a childhood obesity syndrome. Proc Natl Acad Sci U S A (2013) 0.90
Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers. Eur J Hum Genet (2006) 0.89
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med (2012) 0.89
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome. Am J Med Genet A (2009) 0.89
Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol. Carcinogenesis (2003) 0.89
Modified array-based comparative genomic hybridization detects cryptic and variant PML-RARA rearrangements in acute promyelocytic leukemia lacking classic translocations. Diagn Mol Pathol (2013) 0.88