E-LIB Suche - Ergebnisse für: Loveday, Chey

1

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/..

2

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/..

3

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/..

4

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/..

5

Prioritisation by FIT to mitigate the impact of delays in t..:

Loveday, Chey ; Sud, Amit ; Jones, Michael E...
Gut. 70 (2020) 6 - p. 1053-1060 , 2020

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

6

Ovarian and Breast Cancer Risks Associated With Pathogenic ..:

Yang, Xin ; Song, Honglin ; Leslie, Goska...
JNCI: Journal of the National Cancer Institute. 112 (2020) 12 - p. 1242-1250 , 2020

Link: https://doi.org/10.1093/..

7

Genomic landscape of platinum resistant and sensitive testi..:

Loveday, Chey ; Litchfield, Kevin ; Proszek, Paula Z....
Nature Communications. 11 (2020) 1 - p. , 2020

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

8

HIST1H1E heterozygous protein‐truncating variants cause a r..:

Burkardt, Deepika D'Cunha ; Zachariou, Anna ; Loveday, Chey...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2049-2055 , 2019

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

9

Genetic predisposition to mosaic Y chromosome loss in blood:

International Lung Cancer Consortium (INTEGRAL-ILCCO) ; Thompson, Deborah J. ; Genovese, Giulio...
Nature. 575 (2019) 7784 - p. 652-657 , 2019

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

10

The phenotype of Sotos syndrome in adulthood: A review of 4..:

Foster, Alison ; Zachariou, Anna ; Loveday, Chey...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 4 - p. 502-508 , 2019

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

11

The CHD8 overgrowth syndrome: A detailed evaluation of an e..:

Ostrowski, Philip J. ; Zachariou, Anna ; Loveday, Chey...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 4 - p. 557-564 , 2019

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

12

Null variants and deletions in BRWD3 cause an X‐linked synd..:

Ostrowski, Philip J. ; Zachariou, Anna ; Loveday, Chey...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 4 - p. 638-643 , 2019

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

13

EED and EZH2 constitutive variants: A study to expand the C..:

Griffiths, Sara ; Loveday, Chey ; Zachariou, Anna...
American Journal of Medical Genetics Part A. 179 (2019) 4 - p. 588-594 , 2019

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

14

Corrigendum: Mutations in the PP2A regulatory subunit B fam..:

Loveday, Chey ; Tatton-Brown, Katrina ; Clarke, Matthew...
Human Molecular Genetics. 28 (2019) 9 - p. 1578-1578 , 2019

Link: https://doi.org/10.1093/..

15

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 in..:

Tatton-Brown, Katrina ; Zachariou, Anna ; Loveday, Chey...
Wellcome Open Research. 3 (2018) - p. 46 , 2018

Link: https://doi.org/10.12688..