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Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
10.1038/s41467-019-14275-y
000517991000001
32081864
Serra
E.G.
author
Schwerd
T.
author
Moutsianas
L.
author
Cavounidis
A.
author
Fachal
L.
author
Pandey
S.
author
Kammermeier
J.
author
Croft
N.M.
author
Posovszky
C.
author
Rodrigues
A.
author
Russell
R.K.
author
Barakat
F.
author
Auth
MKH
author
Heuschkel
R.
author
Zilbauer
M.
author
Fyderek
K.
author
Braegger
C.
author
Travis
S.P.
author
Satsangi
J.
author
Parkes
M.
author
Thapar
N.
author
Ferry
H.
author
Matte
J.C.
author
Gilmour
K.C.
author
Wedrychowicz
A.
author
Sullivan
P.
author
Moore
C.
author
Sambrook
J.
author
Ouwehand
W.
author
Roberts
D.
author
Danesh
J.
author
Baeumler
T.A.
author
Fulga
T.A.
author
Karaminejadranjbar
M.
author
Ahmed
A.
author
Wilson
R.
author
Barrett
J.C.
author
Elkadri
A.
author
Griffiths
A.M.
author
COLORS in IBD group investigators
contributor
Oxford IBD cohort study investigators
contributor
INTERVAL Study
contributor
Swiss IBD cohort investigators
contributor
UK IBD Genetics Consortium
contributor
NIDDK IBD Genetics Consortium
contributor
Snapper
S.B.
author
Shah
N.
author
Muise
A.M.
author
Wilson
D.C.
author
Uhlig
H.H.
author
Anderson
C.A.
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Zurek
M.
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Strisciuglio
C.
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Elawad
M.
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Lo
B.
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Arancibia-Carcamo
C.
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Bailey
A.
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Barnes
E.
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Bird-Lieberman
E.L.
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Brain
O.
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Braden
B.
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Collier
J.
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East
J.
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Howarth
L.
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Keshav
S.
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Klenerman
P.
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Leedham
S.
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Palmer
R.
contributor
Powrie
F.
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Simmons
A.
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Walker
M.
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Tolkien
Z.
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Kaptoge
S.
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Allen
D.
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Mehenny
S.
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Mant
J.
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Di Angelantonio
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Thompson
S.G.
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Yilmaz
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Geuking
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Strebel
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Tatu
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Tutuian
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Ramon
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Stelling
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Franc
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Pittet
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Franc
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Pittet
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Rossel
J.B.
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Seematter
V.
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Sommer
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Vulliamy
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Michetti
P.
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Maillard
M.H.
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Keller
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Von Känel
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Sawatzki
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Schelling
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Semadeni
G.M.
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Sulz
M.
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Zimmermann
D.
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Aepli
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Criblez
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Proksell
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Miladinova
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Chen
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Brant
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Datta
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Silverberg
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Schumm
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Birch
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Giri
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article
2020-02-21
Nature communications
2041-1723
2041-1723
journal
11
1
995
Adult
Age of Onset
Case-Control Studies
Child
Child, Preschool
Cohort Studies
Female
Genes, Recessive
Genetic Predisposition to Disease
Genetic Variation
Humans
Infant
Infant, Newborn
Inflammatory Bowel Diseases/etiology
Inflammatory Bowel Diseases/genetics
Loss of Function Mutation
Male
Mosaicism
Multifactorial Inheritance
Mutation
NADPH Oxidase 2/genetics
Pedigree
Primary Immunodeficiency Diseases/complications
Primary Immunodeficiency Diseases/genetics
Risk Factors
Whole Exome Sequencing
eng
60_published
true
peer-reviewed
Publication types: Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: epublish
https://serval.unil.ch/notice/serval:BIB_31F78CA4D9D3
https://serval.unil.ch/resource/serval:BIB_31F78CA4D9D3.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_31F78CA4D9D31
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