E-LIB Suche - Ergebnisse für: Rowlands, Charlie F

1

Saturation genome editing of BAP1 functionally classifies s..:

Waters, Andrew J. ; Brendler-Spaeth, Timothy ; Smith, Danielle...
Nature Genetics. 56 (2024) 7 - p. 1434-1445 , 2024

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

2

Characterization of a mutant samhd1 zebrafish model implica..:

Withers, Sarah E. ; Rowlands, Charlie F. ; Tapia, Victor S....
Frontiers in Immunology. 14 (2023) - p. , 2023

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

3

Utility of polygenic risk scores in UK cancer screening: a ..:

Huntley, Catherine ; Torr, Bethany ; Sud, Amit...
The Lancet Oncology. 24 (2023) 6 - p. 658-668 , 2023

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

4

Genome-wide association analysis identifies a susceptibilit..:

Sadler, Katherine V ; Bowes, John ; Rowlands, Charlie F...
Brain. 146 (2022) 7 - p. 2861-2868 , 2022

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

5

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/..

6

Re‐evaluation of missense variant classifications inNF2:

Sadler, Katherine V. ; Rowlands, Charlie F. ; Smith, Philip T....
Human Mutation. 43 (2022) 5 - p. 643-654 , 2022

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

7

Modelling the developmental spliceosomal craniofacial disor..:

Wood, Katherine A. ; Rowlands, Charlie F. ; Thomas, Huw B....
PLOS ONE. 15 (2020) 7 - p. e0233582 , 2020

Link: https://doi.org/10.1371/..

8

Machine Learning Approaches for the Prioritization of Genom..:

Rowlands, Charlie F ; Baralle, Diana ; Ellingford, Jamie M
Cells. 8 (2019) 12 - p. 1513 , 2019

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

9

Disease modeling of core pre-mRNA splicing factor haploinsu..:

Wood, Katherine A ; Rowlands, Charlie F ; Qureshi, Wasay Mohiuddin Shaikh...
Human Molecular Genetics. 28 (2019) 22 - p. 3704-3723 , 2019

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

10

Utility of polygenic risk scores in UK cancer screening : a..:

Huntley, Catherine ; Torr, Bethany ; Sud, Amit...
The Lancet Oncology. , 2023

Link: http://hdl.handle.net/10..

11

Characterization of a mutant samhd1 zebrafish model implica..:

Withers, Sarah E ; Rowlands, Charlie F ; Tapia, Victor S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10025490/. , 2023

Link: http://www.ncbi.nlm.nih...

12

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

Rowlands, Charlie F ; Taylor, Algy ; Rice, Gillian I...
https://eprints.soton.ac.uk/453057/1/MRSD_revision_4_plain_text.docx. , 2022

Link: https://eprints.soton.ac..

13

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

Rowlands, Charlie F ; Taylor, Algy ; Rice, Gillian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874219/. , 2022

Link: http://www.ncbi.nlm.nih...

14

Machine learning approaches for the prioritization of genom..:

Rowlands, Charlie F ; Baralle, Diana ; Ellingford, Jamie M
https://eprints.soton.ac.uk/436123/1/Rowlands_et_al_2019_Machine_learning_in_splicing_prediction3.docx. , 2019

Link: https://eprints.soton.ac..

15

Machine Learning Approaches for the Prioritization of Genom..:

Rowlands, Charlie F ; Baralle, Diana ; Ellingford, Jamie M
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953098/. , 2019

Link: http://www.ncbi.nlm.nih...