(Q38485747)

3 September 2017

Clinical significance of de novo and inherited copy-number variation (English)

1 reference

3 September 2017

9

Han G Brunner

1 reference

Janneke H M Schuurs-Hoeijmakers

3 September 2017

4

object named as

Janneke H M Schuurs-Hoeijmakers

1 reference

3 September 2017

8

Arjan P M de Brouwer

1 reference

Anneke T Vulto-van Silfhout

3 September 2017

1

object named as

Anneke T Vulto-van Silfhout

1 reference

3 September 2017

13

Bert B A de Vries

1 reference

3 September 2017

Jayne Y Hehir-Kwa

2

1 reference

3 September 2017

Bregje W M van Bon

3

1 reference

3 September 2017

Stephen Meader

5

1 reference

3 September 2017

Claudia J M Hellebrekers

6

1 reference

3 September 2017

Ilse J M Thoonen

7

1 reference

3 September 2017

Caleb Webber

10

1 reference

3 September 2017

Rolph Pfundt

11

1 reference

3 September 2017

Nicole de Leeuw

12

1 reference

3 September 2017

language of work or name

1 reference

10 October 2013

1 reference

3 September 2017

1 reference

3 September 2017

34

1 reference

3 September 2017

12

1 reference

3 September 2017

1679-1687

1 reference

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

3 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Chromosomal aberrations, subtelomeric defects, and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

The stardust family protein MPP7 forms a tripartite complex with LIN7 and DLG1 that regulates the stability and localization of DLG1 to cell junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

A chromosomal deletion map of human malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Diagnostic genome profiling in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Structural variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

High resolution array in the clinical approach to chromosomal phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Accurate distinction of pathogenic from benign CNVs in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

The Ensembl genome database project

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Role of the MAGUK protein family in synapse formation and function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Copy-number variation in control population cohorts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

The many faces of the guanine-nucleotide exchange factor trio.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Pik3c3 deletion in pyramidal neurons results in loss of synapses, extensive gliosis and progressive neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Astn2, a novel member of the astrotactin gene family, regulates the trafficking of ASTN1 during glial-guided neuronal migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22442

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22442

1 reference

3 September 2017

1 reference