E-LIB Suche - Ergebnisse für: Sergouniotis, Panagiotis

1

A foundation model for generalizable disease detection from..:

Zhou, Yukun ; Chia, Mark A. ; Wagner, Siegfried K....
Nature. 622 (2023) 7981 - p. 156-163 , 2023

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

2

O31: Risk allele evidence curation, classification, and rep..:

Lebo, Matthew ; Steeves, Marcie ; Benson, Katherine...
Genetics in Medicine Open. 1 (2023) 1 - p. 100457 , 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

eP137: Defining the disease entity for inherited retinal di..:

Hankey, William ; Sergouniotis, Panagiotis ; Goldstein, Jennifer...
Genetics in Medicine. 24 (2022) 3 - p. S85 , 2022

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

5

Comparison of in silico strategies to prioritize rare genom..:

Rowlands, Charlie ; Thomas, Huw B. ; Lord, Jenny...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

6

The need for widely available genomic testing in rare eye d..:

ERN-EYE study group ; Black, Graeme C. ; Sergouniotis, Panagiotis...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

7

A Hybrid Machine Learning Approach Using LBP Descriptor and..:

, In: Communications in Computer and Information Science; Medical Image Understanding and Analysis,

Alfahaid, Abdullah ; Morris, Tim ; Cootes, Tim... - p. 231-241 , 2020

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

8

Loss-of-Function Mutations in the CFH Gene Affecting Altern..:

Taylor, Rachel L. ; Poulter, James A. ; Downes, Susan M....
Ophthalmology. 126 (2019) 10 - p. 1410-1421 , 2019

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

9

Pheno4J: a gene to phenotype graph database:

Mughal, Sajid ; Moghul, Ismail ; Yu, Jing...
Bioinformatics. 33 (2017) 20 - p. 3317-3319 , 2017

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

10

Retinal imaging for the assessment of stroke risk: a system..:

Girach, Zain ; Sarian, Arni ; Maldonado-García, Cynthia...
Journal of Neurology. 271 (2024) 5 - p. 2285-2297 , 2024

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

11

Using computational approaches to enhance the interpretatio..:

Andhika, Nadya S. ; Biswas, Susmito ; Hardcastle, Claire...
European Journal of Human Genetics. , 2024

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

12

Recommendations for risk allele evidence curation, classifi..:

Schmidt, Ryan J. ; Steeves, Marcie ; Bayrak-Toydemir, Pinar...
Genetics in Medicine. 26 (2024) 3 - p. 101036 , 2024

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

13

From genetic variation to precision medicine:

Sergouniotis, Panagiotis I. ; Fitzgerald, Tomas ; Birney, Ewan
Cambridge Prisms: Precision Medicine. 1 (2023) - p. , 2023

Link: https://doi.org/10.1017/..

14

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/..

15

Phenome-wide Mendelian randomisation analysis identifies ca..:

Julian, Thomas H ; Cooper-Knock, Johnathan ; MacGregor, Stuart...
eLife. 12 (2023) - p. , 2023

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