MLPA analysis in a cohort of patients with autism

[1]  Gillian Baird,et al.  Autism spectrum disorder , 2018, The Lancet.

[2]  B. H. Lo,et al.  Autism Spectrum Disorder , 2018, Journal of paediatrics and child health.

[3]  Joana Barbosa de Melo,et al.  Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients , 2015, Molecular Cytogenetics.

[4]  P. Bolton,et al.  Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample. , 2015, JAMA psychiatry.

[5]  M. Butler,et al.  The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review , 2015, International journal of molecular sciences.

[6]  T. Magalhães,et al.  Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy , 2014, PloS one.

[7]  Elodie Ey,et al.  Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments , 2014, PLoS genetics.

[8]  C. Hultman,et al.  The familial risk of autism. , 2014, JAMA.

[9]  Stephen J. Guter,et al.  Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders , 2014, American journal of human genetics.

[10]  H. Peeters,et al.  Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example , 2013, American journal of medical genetics. Part A.

[11]  R. Tuchman,et al.  NINDS epilepsy and autism spectrum disorders workshop report , 2013, Neurology.

[12]  A. Breman,et al.  SHANK3 overexpression causes manic-like behavior with unique pharmacogenetic properties , 2013, Nature.

[13]  B. Peters,et al.  Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism , 2013, Nature Genetics.

[14]  S. Scherer,et al.  Autism spectrum disorder in the genetics clinic: a review , 2013, Clinical genetics.

[15]  C. Waga,et al.  SHANK3 as an autism spectrum disorder-associated gene , 2013, Brain and Development.

[16]  John Wei,et al.  A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder , 2012, G3: Genes | Genomes | Genetics.

[17]  Paula Krakowiak,et al.  Maternal Metabolic Conditions and Risk for Autism and Other Neurodevelopmental Disorders , 2012, Pediatrics.

[18]  Kenny Q. Ye,et al.  De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.

[19]  Michael F. Walker,et al.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.

[20]  Evan T. Geller,et al.  Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.

[21]  Eric P Hoffman,et al.  Genomics , Intellectual Disability , and Autism , 2012 .

[22]  Richard Delorme,et al.  Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother , 2012, European Journal of Human Genetics.

[23]  John J. Connolly,et al.  The Genetics of Autism Spectrum Disorders , 2011 .

[24]  M. Rieder,et al.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations , 2011, Nature Genetics.

[25]  M. Bracken,et al.  Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: A systematic review and meta-analysis , 2011, Genetics in Medicine.

[26]  J. Vermeesch,et al.  Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances , 2011, Journal of Applied Genetics.

[27]  A. Kolevzon,et al.  Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities , 2011, Brain Research.

[28]  S. Schwartz,et al.  Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay , 2011, Human Genetics.

[29]  C. Bénéteau,et al.  Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication , 2010, American journal of medical genetics. Part A.

[30]  Leslie G Biesecker,et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.

[31]  L. Dalprà,et al.  Clinical and genetic evaluation of a family showing both autism and epilepsy , 2010, Brain Research Bulletin.

[32]  Wouter Staal,et al.  Genetics of autistic disorders: review and clinical implications , 2009, European Child & Adolescent Psychiatry.

[33]  R. Delorme,et al.  Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders , 2009, Biological Psychiatry.

[34]  B. V. van Bon,et al.  Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome , 2009, Journal of Medical Genetics.

[35]  J. Schuurs-Hoeijmakers,et al.  Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. , 2009, European journal of medical genetics.

[36]  Christian E Elger,et al.  15q13.3 microdeletions increase risk of idiopathic generalized epilepsy , 2009, Nature Genetics.

[37]  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.

[38]  D. Geschwind,et al.  Advances in autism genetics: on the threshold of a new neurobiology , 2008, Nature Reviews Genetics.

[39]  W. Courtens,et al.  Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families , 2008, American journal of medical genetics. Part A.

[40]  Yu Wang,et al.  A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures , 2008, Nature Genetics.

[41]  Joshua M. Korn,et al.  Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.

[42]  D. Pinto,et al.  Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.

[43]  Esmeralda Gonçalves,et al.  Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions , 2007, Developmental medicine and child neurology.

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

[45]  Thomas Bourgeron,et al.  Mapping autism risk loci using genetic linkage and chromosomal rearrangements , 2007, Nature Genetics.

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

[47]  E. Lopez-Rangel,et al.  Loud and clear evidence for gene silencing by epigenetic mechanisms in autism spectrum and related neurodevelopmental disorders , 2005, Clinical genetics.

[48]  F. Montecchi,et al.  Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC) Correspondence and Conflicts with DSM-IV Criteria in Diagnosis of Autism , 2004, Journal of autism and developmental disorders.

[49]  J. Seidman,et al.  Transcription factor haploinsufficiency: when half a loaf is not enough. , 2002, The Journal of clinical investigation.

[50]  P. Bolton,et al.  The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. , 2001, American journal of medical genetics.

[51]  J. Barber,et al.  Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. , 1997, American journal of human genetics.

[52]  A. Couteur,et al.  Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders , 1994, Journal of autism and developmental disorders.

[53]  H. Faras,et al.  Autism spectrum disorders , 2010, Annals of Saudi medicine.

[54]  P. Westwood.  Intellectual Disability and Autism , 2008 .

[55]  M. Gratacós,et al.  Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons , 2002, European Journal of Human Genetics.