Somatic mosaicism: implications for disease and transmission genetics (Q27016060)

10.1016/J.TIG.2015.07.004

Crossref

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1016/J.TIG.2015.07.004

author

James R. Lupski

series ordinal

4

0 references

Pawel Stankiewicz

series ordinal

3

object named as

Pawel Stankiewicz

1 reference

Ian M. Campbell

1

1 reference

Crossref

Chad A. Shaw

series ordinal

2

1 reference

Crossref

language of work or name

1 reference

July 2015

1 reference

1 reference

31

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issue

7

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page(s)

382-92

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

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28 September 2017

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28 September 2017

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

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28 September 2017

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Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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31 May 2018

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31 May 2018

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Genome sequencing of normal cells reveals developmental lineages and mutational processes

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28 November 2018

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28 November 2018

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28 November 2018

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

28 November 2018

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Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

28 November 2018

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Clinical and radiological findings in Pallister-Killian syndrome.

28 November 2018

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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

28 November 2018

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De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

28 November 2018

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Germ cell numbers in human embryonic and fetal gonads during the first two trimesters of pregnancy: analysis of six published studies.

28 November 2018

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Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

28 November 2018

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Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

28 November 2018

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Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

28 November 2018

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A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.

28 November 2018

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Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

28 November 2018

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Chromosome instability is common in human cleavage-stage embryos.

28 November 2018

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

28 November 2018

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The influence of premeiotic clusters of mutation on indirect estimations of mutation rate.

28 November 2018

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Individual adult human neurons display aneuploidy: detection by fluorescence in situ hybridization and single neuron PCR.

28 November 2018

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28 November 2018

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Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

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

28 November 2018

1 reference

12 December 2020

Somatic mosaicism in FSHD often goes undetected

1 reference

12 December 2020

CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India

1 reference

12 December 2020

Human gene expression first occurs between the four- and eight-cell stages of preimplantation development

1 reference

12 December 2020

Human intersex with chromosome mosaicism of type XY/XO. Report of a case

1 reference

12 December 2020

Digenic inheritance and Mendelian disease

1 reference

12 December 2020

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

1 reference

12 December 2020

Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains

1 reference

12 December 2020

10.1016/J.TIG.2015.03.013

Identifiers

DOI

1 reference

891951

891951

1 reference

1 reference

1 reference