(Q28263098)

Michele Pinelli

5

0 references

Joris A Veltman

Joris A Veltman

6

0 references

Alexander Hoischen

7

Alexander Hoischen

0 references

Lisenka Vissers

8

Lisenka E L M Vissers

0 references

author name string

Tan Bo

2

0 references

Michael P Kwint

3

0 references

Maartje van de Vorst

4

0 references

Christian Gilissen

American Journal of Human Genetics

9

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language of work or name

English

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publication date

2 July 2015

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published in

0 references

volume

97

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issue

1

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page(s)

67-74

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Rate of de novo mutations and the importance of father's age to disease risk

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Variation in genome-wide mutation rates within and between human families

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Estimate of the mutation rate per nucleotide in humans

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Integrative genomics viewer

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Genome sequencing identifies major causes of severe intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Mosaic copy number variation in human neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Extensive genetic variation in somatic human tissues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

A mechanistic basis for amplification differences between samples and between genome regions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

A de novo paradigm for mental retardation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Chromosome instability is common in human cleavage-stage embryos.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Recurrence ofSOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571017

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26054435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.05.008

1 reference

release_hgqux532cjfa3obb27aiol34ay

323179

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hgqux532cjfa3obb27aiol34ay

mapped directly with Wikidata item

24 November 2022

based on heuristic

323179

1 reference

1 reference

1 reference