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Cummings, BB
24
results:
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1
Author Correction: Landscape of multi-nucleotide variants i..:
Wang, Q
;
Pierce-Hoffman, E
;
Cummings, BB
...
Nature Communications. , 2021
Link:
http://hdl.handle.net/10..
?
2
Evaluating drug targets through human loss-of-function gene..:
Minikel, EV
;
Karczewski, KJ
;
Martin, HC
...
Nature. , 2021
Link:
http://hdl.handle.net/10..
?
3
Author Correction: The mutational constraint spectrum quant..:
Karczewski, KJ
;
Francioli, LC
;
Tiao, G
...
Nature. , 2021
Link:
http://hdl.handle.net/10..
?
4
The mutational constraint spectrum quantified from variatio..:
Gudmundsson, S
;
Karczewski, KJ
;
Francioli, LC
...
Nature. , 2020
Link:
http://hdl.handle.net/10..
?
5
Evaluating drug targets through human loss-of-function gene..:
Minikel, EV
;
Karczewski, KJ
;
Martin, HC
...
NATURE. , 2020
Link:
https://qmro.qmul.ac.uk/..
?
6
The effect of LRRK2 loss-of-function variants in humans:
Whiffin, N
;
Armean, IM
;
Kleinman, A
...
10044/1/79583. , 2020
Link:
http://hdl.handle.net/10..
?
7
Transcript expression-aware annotation improves rare varian..:
Cummings, BB
;
Karczewski, KJ
;
Kosmicki, JA
...
Nature. , 2020
Link:
http://hdl.handle.net/10..
?
8
Evaluating potential drug targets through human loss-of-fun..:
Minikel, EV
;
Karczewski, KJ
;
Martin, HC
...
Nature. , 2020
Link:
http://hdl.handle.net/10..
?
9
The mutational constraint spectrum quantified from variatio..:
Karczewski, KJ
;
Francioli, LC
;
Tiao, G
...
Nature. , 2020
Link:
http://hdl.handle.net/10..
?
10
Landscape of X chromosome inactivation across human tissues:
Tukiainen, T
;
Villani, A-C
;
Yen, A
...
doi:10.1038/nature24265. , 2019
Link:
https://doi.org/10.1038/..
?
11
A recurrent COL6A1 pseudoexon insertion causes muscular dys..:
Bolduc, V
;
Foley, AR
;
Solomon-Degefa, H
...
https://discovery.ucl.ac.uk/id/eprint/10070901/7/Muntoni%20124403.1-20190307154508-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf. , 2019
Link:
https://discovery.ucl.ac..
?
12
Landscape of multi-nucleotide variants in 125,748 human exo..:
Wang, Q
;
Pierce-Hoffman, E
;
Cummings, BB
...
Nat Commun. , 2019
Link:
http://hdl.handle.net/10..
?
13
Congenital Titinopathy: Comprehensive characterization and ..:
Oates, EC
;
Jones, KJ
;
Donkervoort, S
...
issn:0364-5134. , 2018
Link:
http://hdl.handle.net/11..
?
14
Exploring the phenotypic consequences of tissue specific ge..:
Barbeira, AN
;
Dickinson, SP
;
Bonazzola, R
...
Springer Science and Business Media LLC. , 2018
Link:
https://hdl.handle.net/2..
?
15
Congenital titinopathy: comprehensive characterisation and ..:
Oates, EC
;
Jones, KJ
;
Donkervoort, S
...
Annals of Neurology. , 2018
Link:
http://hdl.handle.net/10..
1-15
