Mosaic structural variation in children with developmental disorders (Q28392317)

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Sahar Mansour

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Hashem A Shihab

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Katrina Tatton-Brown

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John L Tolmie

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Pradeep C Vasudevan

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Michael Wright

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Deciphering Developmental Disorders Study

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language of work or name

English

0 references

publication date

15 May 2015

0 references

published in

Human Molecular Genetics

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volume

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issue

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page(s)

2733-2745

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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

1 June 2020

cites work

1 reference

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Detectable clonal mosaicism in the human genome

20 March 2017

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Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

20 March 2017

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Detectable clonal mosaicism and its relationship to aging and cancer

20 March 2017

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Detectable clonal mosaicism from birth to old age and its relationship to cancer

20 March 2017

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A mosaic activating mutation in AKT1 associated with the Proteus syndrome

20 March 2017

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

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22q13 deletion syndrome

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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

20 March 2017

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

20 March 2017

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Origins and functional impact of copy number variation in the human genome

20 March 2017

1 reference

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

20 March 2017

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Cohort profile: the 'children of the 90s'—the index offspring of the Avon Longitudinal Study of Parents and Children

7 April 2017

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A copy number variation morbidity map of developmental delay

7 April 2017

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The variant call format and VCFtools

7 April 2017

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Genomic imprinting: parental influence on the genome

7 April 2017

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

7 April 2017

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Passage number is a major contributor to genomic structural variations in mouse iPSCs

29 September 2017

1 reference

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Genome sequencing identifies major causes of severe intellectual disability

29 September 2017

1 reference

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A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing

29 September 2017

1 reference

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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

29 September 2017

1 reference

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The Nedd4-binding protein 3 (N4BP3) is crucial for axonal and dendritic branching in developing neurons

29 September 2017

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Genetics. Genome mosaicism--one human, multiple genomes

29 September 2017

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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

29 September 2017

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A genomic view of mosaicism and human disease

29 September 2017

1 reference

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Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour

29 September 2017

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Twins Early Development Study (TEDS): a genetically sensitive investigation of cognitive and behavioral development from childhood to young adulthood

29 September 2017

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Cohort Profile: Generation Scotland: Scottish Family Health Study (GS:SFHS). The study, its participants and their potential for genetic research on health and illness.

29 September 2017

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Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

29 September 2017

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A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

29 September 2017

1 reference

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Piecing together the problems in diagnosing low-level chromosomal mosaicism

29 September 2017

1 reference

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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

29 September 2017

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

29 September 2017

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A robust statistical method for case-control association testing with copy number variation

29 September 2017

1 reference

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High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

29 September 2017

1 reference

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The dup(3q) syndrome: report of eight cases and review of the literature

29 September 2017

1 reference

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Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases

29 September 2017

1 reference

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Maternal uniparental disomy for chromosome 14

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4406290

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4406290

A genotype calling algorithm for the Illumina BeadArray platform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4406290

Diagnostic exome sequencing in persons with severe intellectual disability

2 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV033

The Deciphering Developmental Disorders (DDD) study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV033

Origin and outcome of pregnancies affected by androgenetic/biparental chimerism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV033

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV033

Large-scale discovery of novel genetic causes of developmental disorders

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4406290

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

27 November 2018

1 reference

12 December 2020

High-resolution DNA analysis of human embryonic stem cell lines reveals culture-induced copy number changes and loss of heterozygosity

1 reference

12 December 2020

Genetic fingerprinting in mouthwashes of patients after allogeneic bone marrow transplantation

1 reference

12 December 2020

Mosaic trisomy 17: variable clinical and cytogenetic presentation

1 reference

12 December 2020

Expanding the phenotype of mosaic trisomy 20

1 reference

12 December 2020

Identification of the mechanism underlying a human chimera by SNP array analysis

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDV033

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25634561%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25634561%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

25634561

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25634561%20AND%20SRC:MED&resulttype=core&format=json