(Q34288706)

1 August 2017

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

1 reference

1 August 2017

probabilistic modeling

0 references

author

Ian M. Campbell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

4

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

6

Peter Olofsson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

5

Paweł Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Jonathan R Stewart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Regis A James

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Chad A Shaw

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

language of work or name

English

0 references

publication date

18 September 2014

1 reference

American Journal of Human Genetics

1 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

345-359

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

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

2 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Pattern of mutation rates in the germline of Drosophila melanogaster males from a large-scale mutation screening experiment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Genetics. Genome mosaicism--one human, multiple genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

A genomic view of mosaicism and human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Differentiation of germ cells and gametes from stem cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

The molecular anatomy of spontaneous germline mutations in human testes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Estimating mutation rate: how to count mutations?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Somatic mosaicism in hemophilia A: a fairly common event.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Recurrence risk for sibs of children with "sporadic" achondroplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Rates of spontaneous mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Recurrence risks for germinal mosaics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Adaptation from leaps in the dark.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Psychiatric disorders in clinical genetics II: Individualizing recurrence risks.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4185125

Older males beget more mutations

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25242496

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Recurrence risk in de novo structural chromosomal rearrangements

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25242496

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.08.010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

release_437xzfra6zcu5bu2nqll7qcxum

2 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/437xzfra6zcu5bu2nqll7qcxum

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25242496%20AND%20SRC:MED&resulttype=core&format=json