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Hurles, Matthew
502
results:
Search for persons
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Online (502)
Mediatypes
Articles (Online) (165)
Bookchapter (Online) (2)
OpenAccess-fulltext (335)
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?
1
Workshop report: the clinical application of data from mult..:
Allen, Sophie
;
Garrett, Alice
;
Muffley, Lara
...
European Journal of Human Genetics. 32 (2024) 5 - p. 593-600 , 2024
Link:
https://doi.org/10.1038/..
?
2
Genetic and chemotherapeutic influences on germline hypermu..:
Kaplanis, Joanna
;
Ide, Benjamin
;
Sanghvi, Rashesh
...
Nature. 605 (2022) 7910 - p. 503-508 , 2022
Link:
https://doi.org/10.1038/..
?
3
Launch of the gene curation coalition database:
DiStefano, Marina
;
Goehringer, Scott
;
Amberger, Joanna
...
Molecular Genetics and Metabolism. 132 (2021) - p. S224-S225 , 2021
Link:
https://doi.org/10.1016/..
?
4
Loss of ADAMTS19 causes progressive non-syndromic heart val..:
Wünnemann, Florian
;
Ta-Shma, Asaf
;
Preuss, Christoph
...
Nature Genetics. 52 (2019) 1 - p. 40-47 , 2019
Link:
https://doi.org/10.1038/..
?
5
"Matching" consent to purpose: The example of the Matchmake..:
Dyke, Stephanie O. M.
;
Knoppers, Bartha M.
;
Hamosh, Ada
...
Human Mutation. 38 (2017) 10 - p. 1281-1285 , 2017
Link:
https://doi.org/10.1002/..
?
6
Returning genome sequences to research participants: Policy..:
Wright, Caroline F.
;
Middleton, Anna
;
Barrett, Jeffrey C.
...
Wellcome Open Research. 2 (2017) - p. 15 , 2017
Link:
https://doi.org/10.12688..
?
7
Recent advances in congenital heart disease genomics:
Wilsdon, Anna
;
Sifrim, Alejandro
;
Hitz, Marc-Phillip
..
F1000Research. 6 (2017) - p. 869 , 2017
Link:
https://doi.org/10.12688..
?
8
THE PREVALENCE AND ARCHITECTURE OF SEVERE, DOMINANT DEVELOP..:
Hurles, Matthew
European Neuropsychopharmacology. 27 (2017) - p. S514 , 2017
Link:
https://doi.org/10.1016/..
?
9
Consent Codes: Upholding Standard Data Use Conditions:
Dyke, Stephanie O. M.
;
Philippakis, Anthony A.
;
Rambla De Argila, Jordi
...
PLOS Genetics. 12 (2016) 1 - p. e1005772 , 2016
Link:
https://doi.org/10.1371/..
?
10
De Novo and Rare Variants at Multiple Loci Support the Olig..:
Priest, James R.
;
Osoegawa, Kazutoyo
;
Mohammed, Nebil
...
PLOS Genetics. 12 (2016) 4 - p. e1005963 , 2016
Link:
https://doi.org/10.1371/..
?
11
Targeted Next‐Generation Sequencing Analysis of 1,000 Indiv..:
Grozeva, Detelina
;
Carss, Keren
;
Spasic‐Boskovic, Olivera
...
Human Mutation. 36 (2015) 12 - p. 1197-1204 , 2015
Link:
https://doi.org/10.1002/..
?
12
De Novo Loss-of-Function Mutations in SETD5, Encoding a Met..:
Grozeva, Detelina
;
Carss, Keren
;
Spasic-Boskovic, Olivera
...
The American Journal of Human Genetics. 94 (2014) 4 - p. 618-624 , 2014
Link:
https://doi.org/10.1016/..
?
13
Exome Sequencing in Fetuses with Structural Malformations:
Mackie, Fiona
;
Carss, Keren
;
Hillman, Sarah
..
Journal of Clinical Medicine. 3 (2014) 3 - p. 747-762 , 2014
Link:
https://doi.org/10.3390/..
?
14
Managing clinically significant findings in research: the U..:
UK 10K
;
Kaye, Jane
;
Hurles, Matthew
...
European Journal of Human Genetics. 22 (2014) 9 - p. 1100-1104 , 2014
Link:
https://doi.org/10.1038/..
?
15
Cis and Trans Effects of Human Genomic Variants on Gene Exp..:
Bryois, Julien
;
Buil, Alfonso
;
Evans, David M.
...
PLoS Genetics. 10 (2014) 7 - p. e1004461 , 2014
Link:
https://doi.org/10.1371/..
1-15