Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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Leslie G Biesecker | Swaroop Aradhya | Margaret P Adam | Deanna M Church | Ada Hamosh | Lars Feuk | Stephen W Scherer | Jan M Friedman | Evan E Eichler | Christa Lese Martin | Klaas Kok | Nigel P Carter | James M Ostell | Michael S Watson | Robert M Kuhn | L. Feuk | N. Carter | Charles Lee | S. Scherer | E. Eichler | D. Ledbetter | I. Krantz | N. Spinner | D. Church | J. Ostell | C. Epstein | R. Kuhn | J. Crolla | J. Vermeesch | K. Kok | David T. Miller | E. Thorland | A. Hamosh | C. Martin | M. Watson | L. Biesecker | S. Aradhya | D. Stavropoulos | M. Adam | D. Waggoner | A. Brothman | W. Faucett | J. Friedman | C. Rosenberg | Joris R Vermeesch | J. Tepperberg | Charles Lee | Carla Rosenberg | Erik C Thorland | David H Ledbetter | E. B. Kaminsky | L. Jackson | Ian D Krantz | David T Miller | W Andrew Faucett | Erin B Kaminsky | Arthur R Brothman | John A Crolla | Dimitri J Stavropoulos | Charles J Epstein | Nancy B Spinner | Laird Jackson | James H Tepperberg | Darrel J Waggoner | M. Watson
[1] Tomas W. Fitzgerald,et al. Origins and functional impact of copy number variation in the human genome , 2010, Nature.
[2] Laura K Conlin,et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. , 2010, Human molecular genetics.
[3] R. Desnick,et al. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization , 2010, Genetics in Medicine.
[4] C. Baker,et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. , 2010, Brain : a journal of neurology.
[5] Yong-shu He,et al. [Structural variation in the human genome]. , 2009, Yi chuan = Hereditas.
[6] S. Schwartz,et al. Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories , 2009, Genetics in Medicine.
[7] A. Stiggelbout,et al. Disentangling the Babylonian speech confusion in genetic counseling: An analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic , 2009, Genetics in Medicine.
[8] E. van Binsbergen,et al. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. , 2009, European journal of medical genetics.
[9] Sarah B. Emery,et al. Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1) , 2009, American journal of medical genetics. Part A.
[10] J. Rosenfeld,et al. aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy , 2009, American journal of medical genetics. Part A.
[11] Manuel Corpas,et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.
[12] C. Shaw-Smith,et al. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects , 2009, Genetics in Medicine.
[13] Richard M Myers,et al. Population analysis of large copy number variants and hotspots of human genetic disease. , 2009, American journal of human genetics.
[14] L. Shaffer,et al. Comprar ISCN 2009 - An International System for Human Cytogenetic Nomenclature | Marilyn L. Slovak | 9783805589857 | Karger AG , 2009 .
[15] L. Shaffer,et al. ISCN 2009 - An International System for Human Cytogenetic Nomenclature , 2009 .
[16] ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. , 2009, Obstetrics and gynecology.
[17] P. Stankiewicz,et al. Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis , 2008, Pediatrics.
[18] C. Baker,et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. , 2008, The New England journal of medicine.
[19] L. Shaffer,et al. Array comparative genomic hybridization in global developmental delay , 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[20] M. Shevell. Global developmental delay and mental retardation or intellectual disability: conceptualization, evaluation, and etiology. , 2008, Pediatric clinics of North America.
[21] Joshua M. Korn,et al. Integrated detection and population-genetic analysis of SNPs and copy number variation , 2008, Nature Genetics.
[22] M. Daly,et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders , 2008, Journal of Medical Genetics.
[23] Z. Ou,et al. Application of metaphase HR‐CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features , 2008, American journal of medical genetics. Part A.
[24] Thomas W. Mühleisen,et al. Large recurrent microdeletions associated with schizophrenia , 2008, Nature.
[25] E. Eichler,et al. Systematic assessment of copy number variant detection via genome-wide SNP genotyping , 2008, Nature Genetics.
[26] S. South,et al. Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation? , 2008, American journal of medical genetics. Part A.
[27] Hongyu Zhao,et al. Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay , 2008, American journal of medical genetics. Part A.
[28] L. Vissers,et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome , 2008, Journal of Medical Genetics.
[29] Christa L Martin,et al. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray , 2008, Genetics in Medicine.
[30] S. South,et al. Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies , 2008, Journal of Medical Genetics.
[31] N. Carter,et al. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. , 2008, American journal of human genetics.
[32] W. Sanger,et al. Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations , 2008, Genetics in Medicine.
[33] A. Tsalenko,et al. The fine-scale and complex architecture of human copy-number variation. , 2008, American journal of human genetics.
[34] Yu Wang,et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures , 2008, Nature Genetics.
[35] Joshua M. Korn,et al. Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.
[36] D. Pinto,et al. Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.
[37] S. South,et al. Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform , 2008, Journal of Medical Genetics.
[38] D. Conrad,et al. Recurrent 16p11.2 microdeletions in autism. , 2007, Human molecular genetics.
[39] S. Cheung,et al. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. , 2007, Clinical chemistry.
[40] L. Shaffer,et al. The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.
[41] E. Eichler,et al. Optimal design of oligonucleotide microarrays for measurement of DNA copy-number. , 2007, Human molecular genetics.
[42] P. Mundy,et al. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization , 2007, Human mutation.
[43] R. Howell,et al. Committee Report: Advancing the current recommended panel of conditions for newborn screening , 2007, Genetics in Medicine.
[44] V. Liebscher,et al. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. , 2007, American journal of human genetics.
[45] A. Cherry,et al. Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs , 2007, Genetics in Medicine.
[46] Bassem A Bejjani,et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome , 2007, Genetics in Medicine.
[47] L. Hudgins,et al. Use of array-based technology in the practice of medical genetics , 2007, Genetics in Medicine.
[48] Christa Lese Martin,et al. Microarray analysis for constitutional cytogenetic abnormalities , 2007, Genetics in Medicine.
[49] P. Ellis,et al. Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation , 2007, Cytogenetic and Genome Research.
[50] Charles Lee,et al. Structural variation in the human genome: the impact of copy number variants on clinical diagnosis , 2007, Genetics in Medicine.
[51] M. Fichera,et al. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients , 2007, Journal of Medical Genetics.
[52] L. Shaffer,et al. The clinical utility of enhanced subtelomeric coverage in array CGH , 2007, American journal of medical genetics. Part A.
[53] P. Stankiewicz,et al. Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics , 2007, American journal of medical genetics. Part A.
[54] H. Fiegler,et al. Guidelines for molecular karyotyping in constitutional genetic diagnosis , 2007, European Journal of Human Genetics.
[55] A. Cherry,et al. Whole‐genome array‐CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features , 2007, American journal of medical genetics. Part A.
[56] K. Gunderson,et al. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region , 2007, Genetics in Medicine.
[57] A. Ekici,et al. Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays , 2007, Journal of Medical Genetics.
[58] Charles Lee,et al. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders , 2007, Nature Genetics.
[59] Lorraine Potocki,et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. , 2007, American journal of human genetics.
[60] Z. Ou,et al. Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases , 2007, PloS one.
[61] Julie Daniels,et al. The epidemiology of autism spectrum disorders. , 2007, Annual review of public health.
[62] A. Hoischen,et al. DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation , 2007, Neurology.
[63] L. Gaunt,et al. Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost‐consequences analysis , 2007, Clinical genetics.
[64] L. Shaffer,et al. Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH , 2007, Genetics in Medicine.
[65] Prevalence of autism spectrum disorders--autism and developmental disabilities monitoring network, six sites, United States, 2000. , 2007, Morbidity and mortality weekly report. Surveillance summaries.
[66] L. Shaffer,et al. Detection of low‐level mosaicism by array CGH in routine diagnostic specimens , 2006, American journal of medical genetics. Part A.
[67] D. Conrad,et al. Global variation in copy number in the human genome , 2006, Nature.
[68] W. Sloos,et al. Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations , 2006, Cytogenetic and Genome Research.
[69] R. Pfundt,et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism , 2006, Nature Genetics.
[70] Andrew J Sharp,et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome , 2006, Nature Genetics.
[71] Andrew J Lees,et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability , 2006, Nature Genetics.
[72] Sarah Barber,et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. , 2006, American journal of human genetics.
[73] L. Shaffer,et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. , 2006, The Journal of pediatrics.
[74] J. Moeschler,et al. Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays , 2006, Pediatrics.
[75] E. Zackai,et al. Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays , 2006, Human mutation.
[76] Michael S. Watson,et al. Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary , 2006, Pediatrics.
[77] L. Feuk,et al. Structural variants: changing the landscape of chromosomes and design of disease studies. , 2006, Human molecular genetics.
[78] M. Derbent,et al. Variable phenotype and associations in chromosome 22q11.2 microdeletion , 2006, American journal of medical genetics. Part A.
[79] R. Hochstenbach,et al. Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling? , 2006, European Journal of Human Genetics.
[80] G Mortier,et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports , 2006, Journal of Medical Genetics.
[81] Naomichi Matsumoto,et al. BAC array CGH reveals genomic aberrations in idiopathic mental retardation , 2006, American journal of medical genetics. Part A.
[82] B. Ylstra,et al. BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH) , 2006, Nucleic acids research.
[83] N. Carter,et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents , 2005, Journal of Medical Genetics.
[84] J. Vermeesch,et al. Reply to Hochstenbach et al. 'Molecular karyotyping'. , 2006, European journal of human genetics : EJHG.
[85] Newborn screening: toward a uniform screening panel and system. , 2006, Genetics in medicine : official journal of the American College of Medical Genetics.
[86] M Somerville,et al. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array‐CGH , 2005, American journal of medical genetics. Part A.
[87] N. Carter,et al. Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals , 2005, European Journal of Human Genetics.
[88] Ton Feuth,et al. Diagnostic genome profiling in mental retardation. , 2005, American journal of human genetics.
[89] D. Ledbetter,et al. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities , 2005, Journal of Medical Genetics.
[90] C. Ruivenkamp,et al. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH) , 2005, Journal of Medical Genetics.
[91] B. D. de Vries,et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. , 2005, American journal of human genetics.
[92] Chad A Shaw,et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis , 2005, Genetics in Medicine.
[93] Bassem A Bejjani,et al. Use of targeted array‐based CGH for the clinical diagnosis of chromosomal imbalance: Is less more? , 2005, American journal of medical genetics. Part A.
[94] D. Ledbetter,et al. Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing , 2005, Genetics in Medicine.
[95] N. Carter,et al. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes , 2005, Journal of Medical Genetics.
[96] F. Rüschendorf,et al. Molecular karyotyping using an SNP array for genomewide genotyping , 2004, Journal of Medical Genetics.
[97] M Bobrow,et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features , 2004, Journal of Medical Genetics.
[98] P. Jacobs,et al. A cytogenetic survey of an institution for the mentally retarded , 1978, Human Genetics.
[99] G. Sutherland,et al. Cytogenetic survey of a hospital for the mentally retarded , 1976, Human Genetics.
[100] Ton Feuth,et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. , 2003, American journal of human genetics.
[101] M A Whelen,et al. Practice parameter: Evaluation of the child with global developmental delay , 2003, Neurology.
[102] J M Freeman,et al. Practice parameter: evaluation of the child with global developmental delay. , 2003, Neurology.
[103] P. Jacobs,et al. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. , 1992, Journal of medical genetics.
[104] D. Warburton,et al. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. , 1991, American journal of human genetics.
[105] I. Kondo,et al. A cytogenetic survey of 449 patients in a Japanese institution for the mentally retarded , 1980, Clinical genetics.
[106] M. Faed,et al. A chromosome survey of a hospital for the mentally subnormal , 1979, Clinical genetics.
[107] M. Spence,et al. Mental retardation associated with "balanced" chromosome rearrangements. , 1977, American journal of human genetics.
[108] E. Hook. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. , 1977, American journal of human genetics.