(Q37956490)

25 August 2017

title

Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia (English)

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25 August 2017

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4

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25 August 2017

M Poot

1

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25 August 2017

J J van der Smagt

series ordinal

2

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25 August 2017

E H Brilstra

series ordinal

3

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25 August 2017

publication date

12 November 2011

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Cytogenetics and Genome Research

25 August 2017

published in

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25 August 2017

volume

135

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25 August 2017

issue

3-4

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25 August 2017

page(s)

228-240

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Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

25 August 2017

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

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Twin studies in schizophrenia with special emphasis on concordance figures

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Revisiting Mendelian disorders through exome sequencing

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Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

21 January 2018

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Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

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Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

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Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

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Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome

21 January 2018

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More prolonged brain activity related to gaze cueing in schizophrenia

21 January 2018

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Finding the missing heritability of complex diseases

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

21 January 2018

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

21 January 2018

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Rethinking the genetic architecture of schizophrenia.

21 January 2018

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WRN helicase expression in Werner syndrome cell lines

21 January 2018

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Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk

21 January 2018

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Genetic advances in the study of speech and language disorders

21 January 2018

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Recent advances in the genetics of language impairment

21 January 2018

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Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families.

21 January 2018

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Microcephalin: a causal link between impaired damage response signalling and microcephaly

21 January 2018

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Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling

21 January 2018

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.

21 January 2018

1 reference

A 15q13.3 microdeletion segregating with autism

21 January 2018

1 reference

Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

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Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

21 January 2018

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Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

21 January 2018

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Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes

21 January 2018

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Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

21 January 2018

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A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease

21 January 2018

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Cohen syndrome diagnosis using whole genome arrays

21 January 2018

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Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

21 January 2018

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Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

21 January 2018

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Novel microdeletion syndromes detected by chromosome microarrays

21 January 2018

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Large recurrent microdeletions associated with schizophrenia

21 January 2018

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Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

21 January 2018

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

21 January 2018

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Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

21 January 2018

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 January 2018

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CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder

21 January 2018

1 reference

A functional genetic link between distinct developmental language disorders

21 January 2018

1 reference

Basic abnormalities in visual processing affect face processing at an early age in autism spectrum disorder

21 January 2018

1 reference

Cytogenetic, molecular-cytogenetic, and clinical-genealogical studies of the mothers of children with autism: a search for familial genetic markers for autistic disorders.

21 January 2018

1 reference

A double hit implicates DIAPH3 as an autism risk gene.

21 January 2018

1 reference

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

21 January 2018

1 reference

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

21 January 2018

1 reference

MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage

21 January 2018

1 reference

Narrowing the boundaries of the genetic architecture of schizophrenia.

21 January 2018

1 reference

A unified genetic theory for sporadic and inherited autism

21 January 2018

1 reference

Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000334064

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25 August 2017

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