Published in Genet Med on July 01, 2011
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med (2015) 16.87
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet (2013) 2.91
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet (2014) 2.84
A systematic approach to assessing the clinical significance of genetic variants. Clin Genet (2013) 1.63
Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Nature (2016) 1.60
Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med (2012) 1.56
Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest (2015) 1.56
Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet (2011) 1.50
Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. Biol Psychiatry (2014) 1.46
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum Mol Genet (2013) 1.44
"What does it mean?": uncertainties in understanding results of chromosomal microarray testing. Genet Med (2012) 1.31
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet (2013) 1.30
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet (2013) 1.26
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. Am J Hum Genet (2015) 1.17
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. Mol Syndromol (2015) 1.13
Response to clozapine in a clinically identifiable subtype of schizophrenia. Br J Psychiatry (2015) 1.09
Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial. Prenat Diagn (2012) 1.04
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet (2013) 0.97
A novel clinician interface to improve clinician access to up-to-date genetic results. J Am Med Inform Assoc (2013) 0.97
Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clin Genet (2012) 0.96
Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients. Indian J Med Res (2014) 0.89
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience. Mol Genet Genomic Med (2014) 0.89
Using ClinVar as a Resource to Support Variant Interpretation. Curr Protoc Hum Genet (2016) 0.89
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics (2014) 0.88
Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification. Eur J Hum Genet (2013) 0.87
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease. Mol Cytogenet (2014) 0.87
Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders. J Autism Dev Disord (2015) 0.87
High-resolution copy number variation analysis of schizophrenia in Japan. Mol Psychiatry (2016) 0.87
Array-CGH in children with mild intellectual disability: a population-based study. Eur J Pediatr (2014) 0.85
The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing. J Genet Couns (2012) 0.85
Parental expression is overvalued in the interpretation of rare inherited variants. Eur J Hum Genet (2014) 0.84
Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability. Mol Cytogenet (2014) 0.83
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort. Mol Cytogenet (2014) 0.82
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds. G3 (Bethesda) (2013) 0.82
A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice. J Genet Couns (2013) 0.81
Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder. Ann Lab Med (2015) 0.81
The clinical impact of chromosomal microarray on paediatric care in Hong Kong. PLoS One (2014) 0.81
Variants of unknown significance on chromosomal microarray analysis: parental perspectives. J Community Genet (2015) 0.80
Adult neuropsychiatric expression and familial segregation of 2q13 duplications. Am J Med Genet B Neuropsychiatr Genet (2014) 0.80
Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches. J Obes (2012) 0.79
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis. Ital J Pediatr (2014) 0.78
The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1. Pediatr Nephrol (2013) 0.78
Integrated small copy number variations and epigenome maps of disorders of sex development. Hum Genome Var (2016) 0.78
Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis. J Clin Med (2014) 0.78
Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray. Eur J Hum Genet (2014) 0.78
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry (2016) 0.78
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. Genet Med (2017) 0.78
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder. Mol Autism (2015) 0.77
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. Am J Hum Genet (2016) 0.77
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genet Med (2016) 0.77
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach. Genet Med (2016) 0.77
Genomic characteristics of miscarriage copy number variants. Mol Hum Reprod (2015) 0.76
Copy number variation in Thai population. PLoS One (2014) 0.76
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med (2016) 0.76
Performance of case-control rare copy number variation annotation in classification of autism. BMC Med Genomics (2015) 0.76
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Sci Rep (2016) 0.76
Copy number variants, aneuploidies, and human disease. Clin Perinatol (2015) 0.76
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron (2017) 0.75
A FRMD7 variant in a Japanese family causes congenital nystagmus. Hum Genome Var (2015) 0.75
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies. Sci Rep (2017) 0.75
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. Clin Transl Med (2016) 0.75
Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge. Mol Cytogenet (2016) 0.75
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. Hum Reprod (2016) 0.75
Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism. Mol Cytogenet (2014) 0.75
Genomic Alterations Are Enhanced in Placentas from Pregnancies with Fetal Growth Restriction and Preeclampsia: Preliminary Results. Mol Syndromol (2016) 0.75
Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care. Front Cardiovasc Med (2016) 0.75
De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report. J Headache Pain (2017) 0.75
Chromosome microarray analysis in the investigation of children with congenital heart disease. BMC Pediatr (2017) 0.75
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions. PLoS One (2016) 0.75
"Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results. J Genet Couns (2016) 0.75
Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. PLoS One (2016) 0.75
Clinical utility of array comparative genomic hybridisation in prenatal setting. BMC Med Genet (2016) 0.75
Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients. Mol Cytogenet (2016) 0.75
Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability. Indian J Med Res (2015) 0.75
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Ital J Pediatr (2016) 0.75
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. Sci Rep (2016) 0.75
Genomic Disorders and Neurocognitive Impairment in Pediatric CKD. J Am Soc Nephrol (2017) 0.75
Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies. Clin Case Rep (2017) 0.75
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. Sci Rep (2017) 0.75
The importance of copy number variation in congenital heart disease. NPJ Genom Med (2016) 0.75
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder. Sci Rep (2017) 0.75
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability? Eur J Hum Genet (2017) 0.75
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. Mol Neurobiol (2016) 0.75
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
ACMG clinical laboratory standards for next-generation sequencing. Genet Med (2013) 5.30
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet (2003) 3.01
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res (2009) 2.29
Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome. Genome Res (2004) 2.29
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot. Am J Med Genet A (2013) 1.99
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol (2009) 1.62
Preclinical validation of fluorescence in situ hybridization assays for clinical practice. Genet Med (2006) 1.45
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res (2011) 1.37
The genomic landscape of small intestine neuroendocrine tumors. J Clin Invest (2013) 1.37
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. Genet Med (2009) 1.36
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
Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization. Genet Med (2011) 1.21
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet (2011) 1.20
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. Am J Med Genet A (2012) 1.15
Malignant melanoma in the 21st century: the emerging molecular landscape. Mayo Clin Proc (2008) 1.13
Preferential integration of human papillomavirus type 18 near the c-myc locus in cervical carcinoma. Oncogene (2003) 1.13
Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med (2010) 1.08
Fluorescence in situ hybridization to visualize genetic abnormalities in interphase cells of acinar cell carcinoma, ductal adenocarcinoma, and islet cell carcinoma of the pancreas. Mayo Clin Proc (2009) 1.04
Reevaluating confined placental mosaicism. Am J Med Genet A (2004) 1.02
Incidence of TCR and TCL1 gene translocations and isochromosome 7q in peripheral T-cell lymphomas using fluorescence in situ hybridization. Am J Clin Pathol (2008) 0.99
Evidence that instability within the FRA3B region extends four megabases. Oncogene (2002) 0.98
Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation? Am J Med Genet A (2008) 0.97
Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review. Am J Med Genet A (2006) 0.97
Mouse model implicates GNB3 duplication in a childhood obesity syndrome. Proc Natl Acad Sci U S A (2013) 0.90
Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation. Am J Med Genet A (2007) 0.90
Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients. J Genet Couns (2014) 0.89
Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. Am J Med Genet A (2007) 0.88
Wolf-Hirschhorn syndrome: A review and update. Am J Med Genet C Semin Med Genet (2015) 0.87
Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies. Am J Med Genet A (2007) 0.87
Loss of TP53 is due to rearrangements involving chromosome region 17p10 approximately p12 in chronic lymphocytic leukemia. Cancer Genet Cytogenet (2006) 0.87
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
Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability. Am J Med Genet A (2011) 0.86
Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region. Am J Med Genet A (2014) 0.86
Differentiation of malignant melanoma from benign nevus using a novel genomic microarray with low specimen requirements. Arch Pathol Lab Med (2012) 0.85
Familial KANK1 deletion that does not follow expected imprinting pattern. Eur J Med Genet (2013) 0.85
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. Biochem Biophys Res Commun (2006) 0.85
X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4. Am J Audiol (2014) 0.85
Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features. Gene (2013) 0.84
Peroxisomal membrane protein import does not require Pex17p. J Biol Chem (2002) 0.83
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency. Clin Chem (2006) 0.83
Unexpected cytogenetic finding in acute lymphoblastic leukemia: a case of del(5q) with a cryptic t(12;21). Cancer Genet Cytogenet (2006) 0.82
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
Unknown partner for USP6 and unusual SS18 rearrangement detected by fluorescence in situ hybridization in a solid aneurysmal bone cyst. Cancer Genet (2011) 0.80
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
Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis. Leuk Res (2008) 0.80
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. Am J Med Genet A (2011) 0.78
Constitutional trisomy 8 mosaicism in a healthy bone marrow donor: confirmation of first reported donor origin trisomy 8. Am J Hematol (2010) 0.78
Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype. Am J Med Genet A (2010) 0.78
A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. Genomics (2005) 0.77
FGFR3 amplification in the absence of IGH@-FGFR3 fusion t(4;14) in myeloma. Cancer Genet Cytogenet (2009) 0.77
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster. Am J Med Genet A (2007) 0.76
Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with wolf-hirschhorn syndrome. J Assoc Genet Technol (2010) 0.76
Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot. Am J Med Genet A (2014) 0.76
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
CD20dim-positive T-cell large granular lymphocytic leukemia in a patient with concurrent hairy cell leukemia and plasma cell myeloma. Int J Clin Exp Pathol (2010) 0.75
Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue. J Mol Diagn (2013) 0.75
Two cases of Scimitar syndrome associated with multiple congenital skeletal anomalies and lacking abnormalities by genomic microarray analysis. Pediatr Dev Pathol (2014) 0.75
Prenatal diagnosis of chromosome abnormalities: past, present, and future. Clin Chem (2013) 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