SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

(2015) Clémence Vanlerberghe et al.   European Journal of Medical Genetics

The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

(2015) Devin Cox et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD-11

(2015) LUIS SALVADOR CARULLA et al.   World Psychiatry

The Genetics of Microdeletion and Microduplication Syndromes: An Update

(2014) Corey T. Watson et al.   Annual Review of Genomics and Human Genetics

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

(2014) Guylaine D’Amours et al.   BMC Medical Genomics

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

(2013) P. Dittwald et al.   GENOME RESEARCH

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma

(2011) Rika Kosaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

UPD detection using homozygosity profiling with a SNP genotyping microarray

(2011) Peter Papenhausen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Copy Number and SNP Arrays in Clinical Diagnostics

(2011) Christian P. Schaaf et al.   Annual Review of Genomics and Human Genetics

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

(2011) Rachel D. Burnside et al.   HUMAN GENETICS

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

(2011) Paweł Stankiewicz et al.   HUMAN MUTATION

Liprin-Mediated Large Signaling Complex Organization Revealed by the Liprin-α/CASK and Liprin-α/Liprin-β Complex Structures

(2011) Zhiyi Wei et al.   MOLECULAR CELL

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS 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

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia

(2010) Katrin Männik et al.   European Journal of Medical Genetics

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

(2010) Eva Wohlleber et al.   European Journal of Medical Genetics

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

(2010) Shin Hayashi et al.   JOURNAL OF HUMAN GENETICS

The genetic basis of non-syndromic intellectual disability: a review

(2010) Liana Kaufman et al.   Journal of Neurodevelopmental Disorders

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

TheCASKgene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation

(2008) Shin Hayashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS