Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

[1]  Erik Sistermans,et al.  Genomic microarrays in mental retardation: A practical workflow for diagnostic applications , 2009, Human mutation.

[2]  A. Sharp.  Emerging themes and new challenges in defining the role of structural variation in human disease , 2009, Human mutation.

[3]  J. Friedman,et al.  High‐resolution array genomic hybridization in prenatal diagnosis , 2009, Prenatal diagnosis.

[4]  P. Stankiewicz,et al.  Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis , 2008, Pediatrics.

[5]  I. Scheffer,et al.  Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice , 2008, Journal of Medical Genetics.

[6]  G. Neri,et al.  On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review , 2008, American journal of medical genetics. Part C, Seminars in medical genetics.

[7]  Dawei Li,et al.  The diploid genome sequence of an Asian individual , 2008, Nature.

[8]  G. Annéren,et al.  Clinical variability of the 22q11.2 duplication syndrome. , 2008, European journal of medical genetics.

[9]  Nancy F. Hansen,et al.  Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry , 2008, Nature.

[10]  C. Baker,et al.  Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. , 2008, The New England journal of medicine.

[11]  Edwin H. Cook,et al.  Copy-number variations associated with neuropsychiatric conditions , 2008, Nature.

[12]  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.

[13]  Joshua M. Korn,et al.  Integrated detection and population-genetic analysis of SNPs and copy number variation , 2008, Nature Genetics.

[14]  M. Marra,et al.  Use of Affymetrix Mapping Arrays in the Diagnosis of Gene Copy Number Variation , 2008, Current protocols in human genetics.

[15]  L. Shaffer,et al.  Comparison of microarray‐based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens , 2008, Prenatal diagnosis.

[16]  L. Vissers,et al.  Clinical and molecular delineation of the 17q21.31 microdeletion syndrome , 2008, Journal of Medical Genetics.

[17]  Christa L Martin,et al.  Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray , 2008, Genetics in Medicine.

[18]  Joshua M. Korn,et al.  Mapping and sequencing of structural variation from eight human genomes , 2008, Nature.

[19]  J. Lupski,et al.  The complete genome of an individual by massively parallel DNA sequencing , 2008, Nature.

[20]  Z. Ou,et al.  Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes , 2008, Genetics in Medicine.

[21]  J. Moeschler.  Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability , 2008, Current opinion in neurology.

[22]  A. Tsalenko,et al.  The fine-scale and complex architecture of human copy-number variation. , 2008, American journal of human genetics.

[23]  J. Komorowski,et al.  Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC‐clone‐based array , 2008, Human mutation.

[24]  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.

[25]  Philippe Froguel,et al.  Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. , 2007, Human molecular genetics.

[26]  L. Shaffer,et al.  Monosomy 1p36 deletion syndrome , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

[27]  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.

[28]  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.

[29]  G. la Marca,et al.  Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 , 2007, Annals of human genetics.

[30]  Philip M. Kim,et al.  Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome , 2007, Science.

[31]  D. Pinto,et al.  Copy-number variation in control population cohorts. , 2007, Human molecular genetics.

[32]  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.

[33]  F. Zahir,et al.  The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility , 2007, Clinical genetics.

[34]  Timothy B. Stockwell,et al.  The Diploid Genome Sequence of an Individual Human , 2007, PLoS biology.

[35]  L. Hudgins,et al.  Use of array-based technology in the practice of medical genetics , 2007, Genetics in Medicine.

[36]  Christa Lese Martin,et al.  Microarray analysis for constitutional cytogenetic abnormalities , 2007, Genetics in Medicine.

[37]  D. Peters,et al.  Rubinstein–Taybi syndrome: clinical and molecular overview , 2007, Expert Reviews in Molecular Medicine.

[38]  Gary D. Bader,et al.  Germ-line DNA copy number variation frequencies in a large North American population , 2007, Human Genetics.

[39]  H. Fiegler,et al.  Guidelines for molecular karyotyping in constitutional genetic diagnosis , 2007, European Journal of Human Genetics.

[40]  J. Lupski,et al.  Genomic rearrangements and sporadic disease , 2007, Nature Genetics.

[41]  A. Ekici,et al.  Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays , 2007, Journal of Medical Genetics.

[42]  Charles Lee,et al.  Copy number variations and clinical cytogenetic diagnosis of constitutional disorders , 2007, Nature Genetics.

[43]  R. Regan,et al.  Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom , 2007, Genomic Medicine.

[44]  Pawel Stankiewicz,et al.  Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. , 2007, Current opinion in genetics & development.

[45]  Kenny Q. Ye,et al.  Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.

[46]  T. de Ravel,et al.  What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH) , 2007, European Journal of Pediatrics.

[47]  Carolyn J. Brown,et al.  A comprehensive analysis of common copy-number variations in the human genome. , 2007, American journal of human genetics.

[48]  Marco A. Marra,et al.  Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data , 2007, BMC Bioinformatics.

[49]  D. Conrad,et al.  Global variation in copy number in the human genome , 2006, Nature.

[50]  B. D. de Vries,et al.  Diagnostic genome profiling: unbiased whole genome or targeted analysis? , 2006, The Journal of molecular diagnostics : JMD.

[51]  Bassem A Bejjani,et al.  Application of array-based comparative genomic hybridization to clinical diagnostics. , 2006, The Journal of molecular diagnostics : JMD.

[52]  L. Feuk,et al.  Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome , 2006, Cytogenetic and Genome Research.

[53]  Sarah Barber,et al.  Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. , 2006, American journal of human genetics.

[54]  K. Gunderson,et al.  High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. , 2006, Genome research.

[55]  S. Langlois,et al.  Postnatal follow‐up of prenatally diagnosed trisomy 16 mosaicism , 2006, Prenatal diagnosis.

[56]  U. Surti,et al.  Variable outcomes in mosaic trisomy 16: five case reports and literature analysis , 2006, Prenatal diagnosis.

[57]  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.

[58]  C. Cytrynbaum,et al.  Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome , 2005, Current opinion in pediatrics.

[59]  R. Trembath,et al.  Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder , 2005, Journal of Medical Genetics.

[60]  E. Bertini,et al.  Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia , 2005, Neurology.

[61]  Robert Henke,et al.  High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs. , 2005, American journal of human genetics.

[62]  Han G Brunner,et al.  Identification of disease genes by whole genome CGH arrays. , 2005, Human molecular genetics.

[63]  Ton Feuth,et al.  Diagnostic genome profiling in mental retardation. , 2005, American journal of human genetics.

[64]  J. Gécz,et al.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. , 2005, American journal of human genetics.

[65]  M. Weyand,et al.  Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11.2 , 2005, Journal of Medical Genetics.

[66]  E. Zackai,et al.  Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome , 2004, American journal of medical genetics. Part A.

[67]  J. Zlotogora.  Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles , 2004, Human Genetics.

[68]  M. Varela,et al.  Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene , 2003, American journal of medical genetics. Part A.

[69]  Y. Nakatsu,et al.  Three novel mutations responsible for Cockayne syndrome group A. , 2003, Genes & genetic systems.

[70]  M. Porteous,et al.  A novel atypical 22q11.2 distal deletion in father and son , 2002, Journal of medical genetics.

[71]  D. Horn,et al.  Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. , 2002, American journal of medical genetics.

[72]  W. J. Kent,et al.  BLAT--the BLAST-like alignment tool. , 2002, Genome research.

[73]  R. Branda,et al.  Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease. , 2001, Mutation research.

[74]  H. Kurahashi,et al.  Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region. , 1996, American journal of human genetics.

[75]  C. Donahue,et al.  Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. , 1996, American journal of medical genetics.

[76]  J. Zunich,et al.  Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. , 1995, American journal of medical genetics.

[77]  C. Oancea,et al.  [The Rubinstein-Taybi syndrome]. , 1971, Neurologia, psihiatria, neurochirurgia.

[78]  C. E. Ford,et al.  A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). , 1959, Lancet.

[79]  P. Jacobs,et al.  A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism , 1959, Nature.