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A cross-disorder dosage sensitivity map of the human genome.
10.1016/j.cell.2022.06.036
000853342700004
35917817
Collins
R.L.
author
Glessner
J.T.
author
Porcu
E.
author
Lepamets
M.
author
Brandon
R.
author
Lauricella
C.
author
Han
L.
author
Morley
T.
author
Niestroj
L.M.
author
Ulirsch
J.
author
Everett
S.
author
Howrigan
D.P.
author
Boone
P.M.
author
Fu
J.
author
Karczewski
K.J.
author
Kellaris
G.
author
Lowther
C.
author
Lucente
D.
author
Mohajeri
K.
author
Nõukas
M.
author
Nuttle
X.
author
Samocha
K.E.
author
Trinh
M.
author
Ullah
F.
author
Võsa
U.
author
Epi25 Consortium
contributor
Estonian Biobank Research Team
contributor
Hurles
M.E.
author
Aradhya
S.
author
Davis
E.E.
author
Finucane
H.
author
Gusella
J.F.
author
Janze
A.
author
Katsanis
N.
author
Matyakhina
L.
author
Neale
B.M.
author
Sanders
D.
author
Warren
S.
author
Hodge
J.C.
author
Lal
D.
author
Ruderfer
D.M.
author
Meck
J.
author
Mägi
R.
author
Esko
T.
author
Reymond
A.
author
Kutalik
Z.
author
Hakonarson
H.
author
Sunyaev
S.
author
Brand
H.
author
Talkowski
M.E.
author
Metspalu
A.
contributor
Mägi
R.
contributor
Nelis
M.
contributor
Milani
L.
contributor
Esko
T.
contributor
article
2022-08-04
Cell
1097-4172
0092-8674
journal
185
16
3041-3055.e25
DNA Copy Number Variations/genetics
Gene Dosage
Genome, Human
Haploinsufficiency/genetics
Humans
copy-number variation
developmental disorders
disease association
dosage sensitivity
genomics
haploinsufficiency
statistical genetics
structural variation
triplosensitivity
eng
60_published
true
peer-reviewed
Publication types: Journal Article
Publication Status: ppublish