E-LIB Suche - Ergebnisse für: Garrett, Alice

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

The PS4-likelihood ratio calculator: flexible allocation of..:

Rowlands, Charlie F ; Garrett, Alice ; Allen, Sophie...
Journal of Medical Genetics. , 2024

Link: https://doi.org/10.1136/..

3

Recommendations for laboratory workflow that better support..:

Allen, Sophie ; Loong, Lucy ; Garrett, Alice...
Journal of Medical Genetics. 61 (2023) 4 - p. 305-312 , 2023

Link: https://doi.org/10.1136/..

4

Germline mismatch repair (MMR) gene analyses from English N..:

Loong, Lucy ; Huntley, Catherine ; McRonald, Fiona...
Journal of Medical Genetics. 60 (2022) 7 - p. 669-678 , 2022

Link: https://doi.org/10.1136/..

5

Reclassification of clinically-detected sequence variants: ..:

Loong, Lucy ; Garrett, Alice ; Allen, Sophie...
Genetics in Medicine. 24 (2022) 9 - p. 1867-1877 , 2022

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

6

A digital pathway for genetic testing in UK NHS patients wi..:

Torr, Bethany ; Jones, Christopher ; Choi, Subin...
Journal of Medical Genetics. 59 (2022) 12 - p. 1179-1188 , 2022

Link: https://doi.org/10.1136/..

7

Quantifying evidence toward pathogenicity for rare phenotyp..:

Garrett, Alice ; Loveday, Chey ; King, Laura...
Genetics in Medicine. 24 (2022) 1 - p. 41-50 , 2022

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

8

Quantifying prediction of pathogenicity for within-codon co..:

Loong, Lucy ; Cubuk, Cankut ; Choi, Subin...
Genetics in Medicine. 24 (2022) 3 - p. 552-563 , 2022

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

9

Phenotype evaluation and clinical context:

, In: Clinical DNA Variant Interpretation,

Garrett, Alice ; Turnbull, Clare - p. 251-274 , 2021

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

10

Harnessing national pan-laboratory data for accurate quanti..:

Garrett, Alice ; Loveday, Chey ; Durkie, Miranda...
Molecular Genetics and Metabolism. 132 (2021) - p. S38 , 2021

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

11

Smartphone-based DNA diagnostics for malaria detection usin..:

Guo, Xin ; Khalid, Muhammad Arslan ; Domingos, Ivo...
Nature Electronics. 4 (2021) 8 - p. 615-624 , 2021

Link: https://doi.org/10.1038/..

12

Contributors:

, In: Clinical DNA Variant Interpretation,

Alves, Ana Catarina ; Austin-Tse, Christina Anne ; Bourbon, Mafalda... - p. xvii-xxi , 2021

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

13

Quantitative evidence evaluation for singleton rare missens..:

King, Laura ; Loveday, Chey ; Garrett, Alice...
Molecular Genetics and Metabolism. 132 (2021) - p. S37 , 2021

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

14

Sepsis: When a Simple Infection Becomes Deadly:

Farthing, Andrew G. ; Howell, Jessie ; Baillie, J. Kenneth...
Frontiers for Young Minds. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

15

Paper microfluidic implementation of loop mediated isotherm..:

Witkowska McConnell, Weronika ; Davis, Chris ; Sabir, Suleman R....
Nature Communications. 12 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..