Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

(2012) Barbara Wiśniowiecka-Kowalnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism

(2011) Karl J. Franek et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

(2011) Fadi F. Hamdan et al.   BIOLOGICAL PSYCHIATRY

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

(2011) Tracy Tucker et al.   BMC Medical Genomics

Intellectual disability without epilepsy associated with STXBP1 disruption

(2011) Fadi F Hamdan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

(2010) Nicole de Leeuw et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

(2010) Anne Behnecke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

The clinical context of copy number variation in the human genome

(2010) Charles Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

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

(2009) JM Friedman et al.   BMC GENOMICS

Human copy number polymorphic genes

(2009) J.A. Bailey et al.   CYTOGENETIC AND GENOME RESEARCH

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7

(2009) Anna M. Lehman et al.   European Journal of Medical Genetics

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

(2009) Sylvie Jaillard et al.   European Journal of Medical Genetics

Quantitative Real-Time Polymerase Chain Reaction for the Verification of Genomic Imbalances Detected by Microarray-Based Comparative Genomic Hybridization

(2009) Shihui Yu et al.   Genetic Testing and Molecular Biomarkers

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

(2009) Marwan K Tayeh et al.   GENETICS IN MEDICINE

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions

(2008) L.-J. C. Wong et al.   CLINICAL CHEMISTRY

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

(2008) Eden V Haverfield et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

(2008) Yoann Saillour et al.   HUMAN MUTATION

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

ALEXA: a microarray design platform for alternative expression analysis

(2008) Malachi Griffith et al.   NATURE METHODS