E-LIB Suche - Ergebnisse für: Ellingford, Jamie

1

Combining a prioritization strategy and functional studies ..:

Dueñas Rey, Alfredo ; del Pozo Valero, Marta ; Bouckaert, Manon...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

2

P474: Applying the 2022 guidelines for non-coding variant c..:

Groopman, Emily ; Singer-Berk, Moriel ; Whiffin, Nicola...
Genetics in Medicine Open. 1 (2023) 1 - p. 100521 , 2023

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

3

Late-Onset Autosomal Dominant Macular Degeneration Caused b..:

Yahya, Samar ; Smith, Claire E.L. ; Poulter, James A....
Ophthalmology. 130 (2023) 1 - p. 68-76 , 2023

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

4

Molecular diagnoses in the congenital malformations caused ..:

Best, Sunayna ; Lord, Jenny ; Roche, Matthew...
Acta Ophthalmologica. 100 (2022) S267 - p. , 2022

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

5

The inner junction protein CFAP20 functions in motile and n..:

Chrystal, Paul W. ; Lambacher, Nils J. ; Doucette, Lance P....
Nature Communications. 13 (2022) 1 - p. , 2022

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

6

Exploring the genetic basis of 3MC syndrome: Findings in 12..:

Urquhart, Jill ; Roberts, Rebecca ; de Silva, Deepthi...
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1216-1224 , 2016

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

7

De novo variants in the RNU4-2 snRNA cause a frequent neuro..:

Chen, Yuyang ; Dawes, Ruebena ; Kim, Hyung Chul...
Nature. , 2024

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

8

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/..

9

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

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

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..