(Q58611494)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30397338%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

title

Multiple transmissions of de novo mutations in families (English)

1 reference

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2 May 2020

1

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2 May 2020

Patrick Sulem

2

1 reference

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2 May 2020

Gudny A Arnadottir

3

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2 May 2020

Hannes P Eggertsson

5

1 reference

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2 May 2020

Birte Kehr

8

1 reference

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2 May 2020

Ingileif Jonsdottir

11

1 reference

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2 May 2020

Simon N Stacey

17

1 reference

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2 May 2020

Augustine Kong

21

1 reference

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2 May 2020

Bjarni V. Halldórsson

22

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2 May 2020

Daníel F. Guðbjartsson

24

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2 May 2020

Kári Stefánsson

25

1 reference

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2 May 2020

author name string

Gunnar Pálsson

4

1 reference

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2 May 2020

Snaedis Kristmundsdottir

6

1 reference

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2 May 2020

Florian Zink

7

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2 May 2020

Kristjan E Hjorleifsson

9

1 reference

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2 May 2020

Brynjar Ö Jensson

10

1 reference

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2 May 2020

Sigurdur Einar Marelsson

12

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2 May 2020

Sigurjon Axel Gudjonsson

13

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2 May 2020

Arnaldur Gylfason

14

1 reference

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2 May 2020

Adalbjorg Jonasdottir

15

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2 May 2020

Aslaug Jonasdottir

16

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2 May 2020

Olafur Th Magnusson

18

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2 May 2020

Gisli Masson

20

1 reference

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2 May 2020

Agnar Helgason

23

1 reference

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2 May 2020

Unnur Thorsteinsdottir

19

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2 May 2020

language of work or name

English

0 references

publication date

5 November 2018

1 reference

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2 May 2020

1 reference

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2 May 2020

volume

50

1 reference

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2 May 2020

issue

12

1 reference

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2 May 2020

page(s)

1674-1680

1 reference

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Specification and epigenetic programming of the human germ line

2 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

A genomic view of mosaicism and human disease

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Genetic mosaics and the germ line lineage

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Building a lineage from single cells: genetic techniques for cell lineage tracking

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Somatic mutation in single human neurons tracks developmental and transcriptional history

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Timing, rates and spectra of human germline mutation

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Germ-line mosaicism in tuberous sclerosis: how common?

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

High rate of mosaicism in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Mutation rates and the evolution of germline structure

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

New observations on maternal age effect on germline de novo mutations

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

De novo mutations in epileptic encephalopathies

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Insights into hominid evolution from the gorilla genome sequence

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Whole genome characterization of sequence diversity of 15,220 Icelanders

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

Graphtyper enables population-scale genotyping using pangenome graphs.

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

RAxML version 8: a tool for phylogenetic analysis and post-analysis of large phylogenies

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0259-9

7 January 2021

10.1038/S41588-018-0259-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30397338%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference