Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

[1]  M. Villarroya,et al.  Phenotype in patients with intellectual disability and pathological results in array CGH. , 2017 .

[2]  M. G. Jiménez,et al.  Fenotipo en pacientes con discapacidad intelectual y array-CGH patológico , 2017 .

[3]  Gert Jan van der Wilt,et al.  A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology , 2017, Genetics in Medicine.

[4]  Monkol Lek,et al.  Patterns of genic intolerance of rare copy number variation in 59,898 human exomes , 2016, Nature Genetics.

[5]  M. Tzetis,et al.  Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications , 2016, Clinical genetics.

[6]  J. Rosenfeld,et al.  Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study , 2016, Genetics in Medicine.

[7]  L. Vissers,et al.  Genetic studies in intellectual disability and related disorders , 2015, Nature Reviews Genetics.

[8]  Yiping Shen,et al.  Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield , 2014, BMC Genomics.

[9]  J. Moeschler,et al.  Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays , 2014, Pediatrics.

[10]  K. Friend,et al.  Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH , 2014, Pathology.

[11]  A. Battaglia,et al.  Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. , 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[12]  J. Baron,et al.  Copy number variants in patients with short stature , 2013, European Journal of Human Genetics.

[13]  M. Tzetis,et al.  Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease , 2013, Pediatric Research.

[14]  Dagmar Wieczorek,et al.  Rare Copy Number Variants Are a Common Cause of Short Stature , 2013, PLoS genetics.

[15]  M. Shoukier,et al.  Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? , 2013, Clinical genetics.

[16]  R. Reading.  Evidence Report: Genetic and Metabolic Testing on Children With Global Developmental Delay , 2012, Pediatric Clinical Practice Guidelines & Policies.

[17]  Gregory M. Cooper,et al.  A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.

[18]  S. South,et al.  American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants , 2011, Genetics in Medicine.

[19]  Shekhar Saxena,et al.  Prevalence of intellectual disability: a meta-analysis of population-based studies. , 2011, Research in developmental disabilities.

[20]  R. Reading,et al.  Clinical genetic testing for patients with autism spectrum disorders , 2010 .

[21]  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.

[22]  Sharyn A. Lincoln,et al.  Clinical Genetic Testing for Patients With Autism Spectrum Disorders , 2010, Pediatrics.

[23]  A. Zinn,et al.  Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease , 2008, Pediatric Research.

[24]  J. Moeschler,et al.  Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays , 2006, Pediatrics.

[25]  M. Arvio,et al.  Prevalence, aetiology and comorbidity of severe and profound intellectual disability in Finland. , 2003, Journal of intellectual disability research : JIDR.

[26]  M. C. García Jiménez,et al.  Phenotype in patients with intellectual disability and pathological results in array CGH. , 2017, Neurologia.

[27]  [Expert consensus on the clinical application of chromosomal microarray analysis in pediatric genetic diseases]. , 2016, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[28]  R. Giugliani,et al.  Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances. , 2015, Jornal de pediatria.

[29]  S. Ashwal,et al.  Practice Committee of the Child Neurology Society Subcommittee of the American Academy of Neurology and the global developmental delay : Report of the Quality Standards Evidence Report : Genetic and metabolic testing on children with April , 2012 .