E-LIB Suche - Ergebnisse für: Hurles, Matthew

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

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..

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

THE PREVALENCE AND ARCHITECTURE OF SEVERE, DOMINANT DEVELOP..:

Hurles, Matthew
European Neuropsychopharmacology. 27 (2017) - p. S514 , 2017

Link: https://doi.org/10.1016/..

8

"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/..

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

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/..

13

Characterizing genetic variants for clinical action:

Ramos, Erin M. ; Din‐Lovinescu, Corina ; Berg, Jonathan S....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166 (2014) 1 - p. 93-104 , 2014

Link: https://doi.org/10.1002/..

14

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/..

15

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/..