Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

2010 • 2,584 citations

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

2012 • 2,113 citations

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

2012 • 2,029 citations

Patterns and rates of exonic de novo mutations in autism spectrum disorders

2012 • 1,722 citations

De Novo Gene Disruptions in Children on the Autistic Spectrum

2012 • 1,435 citations

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

2011 • 915 citations

A de novo paradigm for mental retardation

2010 • 827 citations

De novo mutations in human genetic disease

2012 • 817 citations

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

2010 • 758 citations

The epidemiology of mental retardation: Challenges and opportunities in the new millennium

2002 • 610 citations

The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.

1996 • 452 citations

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

2006 • 416 citations

Genetic and Epigenetic Networks in Intellectual Disabilities

2011 • 353 citations

Genetics of Early Onset Cognitive Impairment

2010 • 353 citations

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

2011 • 326 citations

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

2009 • 310 citations

Genomics, Intellectual Disability, and Autism

2012 • 310 citations

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 • 217 citations

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

2009 • 207 citations

Clinical Genetic Evaluation of the Child with Mental Retardation or Developmental Delays

2014 • 204 citations

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

2011 • 195 citations

Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

2012 • 166 citations

Diagnostic evaluation of developmental delay/mental retardation: An overview

2003 • 149 citations

Exome sequencing and the genetics of intellectual disability

2011 • 78 citations

Pyruvate dehydrogenase deficiency and epilepsy

2011 • 65 citations

Mental Retardation in Children Ages 6 to 16

2006 • 27 citations

Retinoblastoma: Mutational mosaicism or host resistance?

1981 • 11 citations

The Clinical Evaluation of Patients with Mental Retardation/Intellectual Disability

2010 • 5 citations