Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. (Q48133265)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27479907%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (English)

1 reference

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20 March 2020

17

1 reference

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20 March 2020

Alejandro Sifrim

1

1 reference

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20 March 2020

Bernard Thienpont

6

1 reference

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20 March 2020

Tarjinder Singh

9

1 reference

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20 March 2020

Siddharth Banka

14

1 reference

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20 March 2020

Shoumo Bhattacharya

18

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20 March 2020

Katherine L Lachlan

36

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20 March 2020

Martin O Pollard

50

1 reference

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20 March 2020

Hugh Christian Watkins

58

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20 March 2020

Seema Mital

61

1 reference

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20 March 2020

Bernard Keavney

63

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20 March 2020

Jeffrey C Barrett

70

1 reference

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20 March 2020

David R. FitzPatrick

72

1 reference

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20 March 2020

John David Brook

73

1 reference

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20 March 2020

69

Helen V Firth

1 reference

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20 March 2020

46

Willem H Ouwehand

1 reference

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20 March 2020

26

John Danesh

1 reference

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20 March 2020

44

Ruth Newbury-Ecob

1 reference

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20 March 2020

64

Judith Goodship

1 reference

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20 March 2020

author name string

Marc-Phillip Hitz

2

1 reference

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20 March 2020

Anna Wilsdon

3

1 reference

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20 March 2020

Jeroen Breckpot

4

1 reference

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20 March 2020

Saeed H Al Turki

5

1 reference

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20 March 2020

Jeremy McRae

7

1 reference

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20 March 2020

Tomas W Fitzgerald

8

1 reference

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20 March 2020

Ganesh Jawahar Swaminathan

10

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20 March 2020

Elena Prigmore

11

1 reference

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20 March 2020

Diana Rajan

12

1 reference

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20 March 2020

Hashim Abdul-Khaliq

13

1 reference

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20 March 2020

Ulrike M M Bauer

15

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20 March 2020

Jamie Bentham

16

1 reference

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20 March 2020

Frances Bu'Lock

19

1 reference

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20 March 2020

Natalie Canham

20

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20 March 2020

Irina-Gabriela Colgiu

21

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20 March 2020

Catherine Cosgrove

22

1 reference

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20 March 2020

Helen Cox

23

1 reference

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20 March 2020

Ingo Daehnert

24

1 reference

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20 March 2020

Allan Daly

25

1 reference

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20 March 2020

Alan Fryer

27

1 reference

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20 March 2020

Marc Gewillig

28

1 reference

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20 March 2020

Emma Hobson

29

1 reference

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20 March 2020

Kirstin Hoff

30

1 reference

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20 March 2020

Tessa Homfray

31

1 reference

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20 March 2020

INTERVAL Study

32

1 reference

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20 March 2020

Anne-Karin Kahlert

33

1 reference

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20 March 2020

Ami Ketley

34

1 reference

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20 March 2020

Hans-Heiner Kramer

35

1 reference

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20 March 2020

Anne Katrin Lampe

37

1 reference

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20 March 2020

Jacoba J Louw

38

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20 March 2020

Ashok Kumar Manickara

39

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20 March 2020

Dorin Manase

40

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20 March 2020

Karen P McCarthy

41

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20 March 2020

Kay Metcalfe

42

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20 March 2020

Carmel Moore

43

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20 March 2020

Seham Osman Omer

45

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20 March 2020

Soo-Mi Park

47

1 reference

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20 March 2020

Michael J Parker

48

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20 March 2020

Thomas Pickardt

49

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20 March 2020

Leema Robert

51

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20 March 2020

David J Roberts

52

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20 March 2020

Jennifer Sambrook

53

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Kerry Setchfield

54

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20 March 2020

Brigitte Stiller

55

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20 March 2020

Chris Thornborough

56

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20 March 2020

Okan Toka

57

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20 March 2020

Denise Williams

59

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20 March 2020

Michael Wright

60

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20 March 2020

Piers E F Daubeney

62

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20 March 2020

UK10K Consortium

65

1 reference

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20 March 2020

Riyadh Mahdi Abu-Sulaiman

66

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20 March 2020

Sabine Klaassen

67

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20 March 2020

Koenraad Devriendt

71

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20 March 2020

Matthew E Hurles

75

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20 March 2020

Caroline F Wright

68

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20 March 2020

Deciphering Developmental Disorders Study

74

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20 March 2020

language of work or name

English

0 references

publication date

1 August 2016

1 reference

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20 March 2020

1 reference

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20 March 2020

volume

48

1 reference

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20 March 2020

page(s)

1060-1065

1 reference

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20 March 2020

issue

9

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng.3627

20 March 2020

exact match

0 references

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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988037

The incidence of congenital heart disease

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988037

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988037

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988037

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988037

Large-scale discovery of novel genetic causes of developmental disorders.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988037

Report from the international society for nomenclature of paediatric and congenital heart disease: creation of a visual encyclopedia illustrating the terms and definitions of the international pediatric and congenital cardiac code.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988037

Diagnostic exome sequencing in persons with severe intellectual disability

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988037

Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988037

MLL2 and KDM6A mutations in patients with Kabuki syndrome

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27479907

12 December 2020

inferred from PubMed ID database lookup

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27479907

12 December 2020

inferred from PubMed ID database lookup

Recurrence of Congenital Heart Defects in Families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27479907

12 December 2020

inferred from PubMed ID database lookup

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3627

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.3627

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27479907%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27479907%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference