Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders (Q28392162)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Joris R Vermeesch

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

ORCID Public Data File 2021

Peter Olofsson

object named as

Peter Olofsson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Carlos A Bacino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Rolph Pfundt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Sau Wai Cheung

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Paweł Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Seema R Lalani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Ankita Patel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Sung-Hae L Kang

1 reference

11 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

Bo Yuan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Caroline Robberecht

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Przemyslaw Szafranski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Meriel E McEntagart

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Sandesh C S Nagamani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Ayelet Erez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Magdalena Bartnik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Barbara Wiśniowiecka-Kowalnik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Katie S Plunkett

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Amber N Pursley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Weimin Bi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Mala Vast

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Karen Marks

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Michael Patton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Chad A Shaw

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

language of work or name

English

0 references

publication date

31 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

11 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

page(s)

173-182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

11 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

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=4129404

Detectable clonal mosaicism and its relationship to aging and cancer

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

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=4129404

Mechanisms of change in gene copy number

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Nuclear DNA content and genome size of trout and human

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

The origins, patterns and implications of human spontaneous mutation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Genetics. Genome mosaicism--one human, multiple genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

A genomic view of mosaicism and human 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=4129404

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Somatic Genome Variations in Health and 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=4129404

Somatic gene mutation and human disease other than cancer: an update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Differentiation of germ cells and gametes from 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=4129404

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

The molecular anatomy of spontaneous germline mutations in human testes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Exact sampling formulas for multi-type Galton-Watson processes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Mutation rate of normal and malignant human lymphocytes.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

A somatic mosaic for haemophilia A detected at the DNA level.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

The origin, migration and fine morphology of human primordial germ cells

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Germline mosaicism and Duchenne muscular dystrophy mutations

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129404

Recurrence risk in de novo structural chromosomal rearrangements

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25087610

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25087610

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.07.003

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

PubMed publication ID

25087610

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087610%20AND%20SRC:MED&resulttype=core&format=json