MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism

Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders

(2018) Danijela Krgovic et al.   Scientific Reports

Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort

(2017) Hui Guo et al.   Scientific Reports

Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders

(2017) Joseph T. Glessner et al.   Genome Medicine

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

(2016) Virpi M. Leppa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

(2016) Jia-Chi Wang et al.   Molecular Cytogenetics

Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder

(2016) Chia-Lin Yin et al.   Molecular Autism

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

(2015) Rachel D. Burnside   CYTOGENETIC AND GENOME RESEARCH

High rates of parkinsonism in adults with autism

(2015) Sergio Starkstein et al.   Journal of Neurodevelopmental Disorders

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

(2015) Sergio I. Nemirovsky et al.   PLoS One

Dock-family exchange factors in cell migration and disease

(2014) Gilles Gadea et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Autism diagnoses in the US rise by 30%, CDC reports

(2014) M. McCarthy   BMJ-British Medical Journal

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

(2013) Caroline Nava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

(2013) Sarah T. South et al.   GENETICS IN MEDICINE

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

(2013) G. Bradley Schaefer et al.   GENETICS IN MEDICINE

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: Further support of an association and possible evidence for a new microdeletion/microduplication syndrome

(2011) Angela Scheuerle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

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

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

(2010) Anna Bremer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Mutation screening of melatonin-related genes in patients with autism spectrum disorders

(2010) Lina Jonsson et al.   BMC Medical Genomics

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Examination of association of genes in the serotonin system to autism

(2009) B. M. Anderson et al.   NEUROGENETICS

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT

(2008) Guiqing Cai et al.   BMC Medical Genomics

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

(2007) Bradley L. Griggs et al.   GENOMICS