E-LIB Suche - Ergebnisse für: Ellingford, Jamie M.

1

EyeG2P: an automated variant filtering approach improves ef..:

Lenassi, Eva ; Carvalho, Ana ; Thormann, Anja...
Journal of Medical Genetics. 60 (2023) 8 - p. 810-818 , 2023

2

HNRNPC haploinsufficiency affects alternative splicing of i..:

Niggl, Eva ; Bouman, Arjan ; Briere, Lauren C....
The American Journal of Human Genetics. 110 (2023) 8 - p. 1414-1435 , 2023

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

3

Multidisciplinary team directed analysis of whole genome se..:

Daich Varela, Malena ; Bellingham, James ; Motta, Fabiana...
Human Molecular Genetics. 32 (2022) 4 - p. 595-607 , 2022

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

4

Clinical and genetic findings in TRPM1‐related congenital s..:

Iosifidis, Christos ; Liu, Jingshu ; Gale, Theodora...
Acta Ophthalmologica. 100 (2022) 6 - p. , 2022

Link: https://doi.org/10.1111/..

5

Germline intergenic duplications at Xq26.1 underlie Bazex–D..:

Liu, Yanshan ; Banka, Siddharth ; Huang, Yingzhi...
British Journal of Dermatology. 187 (2022) 6 - p. 948-961 , 2022

Link: https://doi.org/10.1111/..

6

MRSD: A quantitative approach for assessing suitability of ..:

Rowlands, Charlie F. ; Taylor, Algy ; Rice, Gillian...
The American Journal of Human Genetics. 109 (2022) 2 - p. 210-222 , 2022

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

7

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M. ; Ahn, Joo Wook ; Bagnall, Richard D....
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

8

Molecular diagnoses in the congenital malformations caused ..:

Best, Sunayna ; Lord, Jenny ; Roche, Matthew...
Journal of Medical Genetics. 59 (2021) 8 - p. 737-747 , 2021

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

9

High penetrance of myeloid neoplasia with diverse clinical ..:

Ellingford, Jamie M. ; Telford, Nick ; Urquhart, Jill...
Cancer Genetics. 256-257 (2021) - p. 77-80 , 2021

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

10

Personalised virtual gene panels reduce interpretation work..:

Molina-Ramírez, Leslie Patricia ; Kyle, Claire ; Ellingford, Jamie M...
Journal of Medical Genetics. 59 (2021) 4 - p. 393-398 , 2021

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

11

Correction: Clinical utility of genetic testing in 201 pres..:

Lenassi, Eva ; Clayton-Smith, Jill ; Douzgou, Sofia...
Genetics in Medicine. 23 (2021) 10 - p. 2023 , 2021

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

12

Gene Panel Testing for Breast Cancer Reveals Differential E..:

Evans, D. Gareth ; van Veen, Elke M. ; Woodward, Emma R....
Cancers. 13 (2021) 16 - p. 4154 , 2021

Link: https://doi.org/10.3390/..

13

Genomic and healthcare dynamics of nosocomial SARS-CoV-2 tr..:

Ellingford, Jamie M ; George, Ryan ; McDermott, John H...
eLife. 10 (2021) - p. , 2021

Link: https://doi.org/10.7554/..

14

Extended gene panel testing in lobular breast cancer:

van Veen, Elke M. ; Evans, D. Gareth ; Harkness, Elaine F....
Familial Cancer. 21 (2021) 2 - p. 129-136 , 2021

Link: https://doi.org/10.1007/..

15

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in ..:

Wood, Katherine A. ; Ellingford, Jamie M. ; Eden, James...
Cardiogenetics. 11 (2021) 2 - p. 73-83 , 2021

Link: https://doi.org/10.3390/..