(Q35286605)

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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

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scholarly article

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Europe PubMed Central

7 August 2017

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder (English)

1 reference

Europe PubMed Central

7 August 2017

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autism spectrum disorder

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intellectual disability

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based on heuristic

inferred from title

microdeletion syndrome

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based on heuristic

inferred from title

2q23.1 microdeletion syndrome

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based on heuristic

inferred from title

object named as

Colby Chiang

11

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Michael E. Talkowski

object named as

Michael E Talkowski

1

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object named as

Marco Fichera

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object named as

Corrado Romano

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James F. Gusella

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object named as

James F Gusella

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7 August 2017

Julie Gastier-Foster

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object named as

Julie Gastier-Foster

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7 August 2017

Jill A Rosenfeld

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object named as

Jill A Rosenfeld

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Douglas M. Ruderfer

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object named as

Douglas M Ruderfer

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Bregje W van Bon

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object named as

Bregje W M van Bon

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Devon Lamb Thrush

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object named as

Devon Lamb Thrush

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object named as

Carrie Hanscom

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Amelia M Lindgren

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object named as

Amelia M Lindgren

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object named as

Cynthia C Morton

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Caroline Astbury

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object named as

Caroline Astbury

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Klaske D Lichtenbelt

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object named as

Klaske D Lichtenbelt

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object named as

Robert E Pyatt

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Stuart Schwartz

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object named as

Stuart Schwartz

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object named as

Lisa G Shaffer

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author name string

Sureni V Mullegama

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Yiping Shen

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Elena A Repnikova

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Sekar Kathiresan

9

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7 August 2017

Carl Ernst

13

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7 August 2017

Yu An

16

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Louise A Brueton

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Lesley C Ades

20

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Jeffrey W Innis

23

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Charles A Williams

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Dennis Bartholomew

25

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Margot I Van Allen

26

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Aditi Parikh

27

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Lilei Zhang

28

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Bai-Lin Wu

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Bert B A de Vries

33

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Sarah H Elsea

35

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7 August 2017

language of work or name

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publication date

1 October 2011

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7 August 2017

American Journal of Human Genetics

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7 August 2017

89

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7 August 2017

4

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551-563

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7 August 2017

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

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A human MAP kinase interactome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Gene and miRNA expression profiles in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Genome-wide association study of bipolar disorder in European American and African American individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

The Autism Diagnostic Observation Schedule-toddler module: a new module of a standardized diagnostic measure for autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Genomewide association studies: history, rationale, and prospects for psychiatric disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

A functional network module for Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

The Autistic Neuron: Troubled Translation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Contemplating effects of genomic structural variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Identification of loci associated with schizophrenia by genome-wide association and follow-up

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Genomewide association for schizophrenia in the CATIE study: results of stage 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Diagnostic genome profiling in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Mutation analysis of methyl-CpG binding protein family genes in autistic patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

26 September 2018

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

26 September 2018

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

26 September 2018

Diagnosing autism spectrum disorders in pre-school children using two standardised assessment instruments: the ADI-R and the ADOS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

26 September 2018

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188839

26 September 2018

A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/21981781

12 December 2020

based on heuristic

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10.1016/J.AJHG.2011.09.011

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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