(Q48124644)

http://europepmc.org/abstract/PMC/5988033

14 June 2018

title

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

1 reference

http://europepmc.org/abstract/PMC/5988033

14 June 2018

author

Meena Balasubramanian

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Alejandro Sifrim

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jeffrey C Barrett

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

David R. FitzPatrick

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Moira Blyth

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Tomas W Fitzgerald

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Richard Francis

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sebastian S Gerety

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Ajith Kumar

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Christopher J. Lelliott

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jenny Lord

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jawahar Swaminathan

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Caroline F. Wright

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

38

Helen V Firth

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

15

Judith Goodship

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Nadia Akawi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jeremy McRae

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Morad Ansari

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Angela F Brady

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Stephen Clayton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Trevor Cole

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Charu Deshpande

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nicola Foulds

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

George Gabriel

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Emma Hobson

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Wendy D Jones

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Shelagh Joss

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Daniel King

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nikolai Klena

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Melissa Lees

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Dominic McMullan

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Mary O'Regan

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Deborah Osio

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Virginia Piombo

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Elena Prigmore

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Diana Rajan

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Elisabeth Rosser

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Audrey Smith

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Peter Turnpenny

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

James Whitworth

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Cecilia W Lo

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Matthew E Hurles

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

DDD study

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

language of work or name

English

0 references

publication date

5 October 2015

1 reference

http://europepmc.org/abstract/PMC/5988033

14 June 2018

published in

Nature Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

1363-1369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

4 June 2020

RStudio

1 reference

18 June 2022

https://europepmc.org/article/PMC/5988033

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ng.3410

0 references

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14 June 2018

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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14 June 2018

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16 June 2018

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14 August 2018

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14 August 2018

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Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

14 August 2018

1 reference

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

14 August 2018

1 reference

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Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5988033

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26437029

12 December 2020

inferred from PubMed ID database lookup

Compound-heterozygous Marfan syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26437029

12 December 2020

inferred from PubMed ID database lookup

Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3410

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.3410

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26437029%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference