E-LIB Suche - Ergebnisse für: Spurdle, Amanda B

1

Reanalysis of genomic data in rare disease: current practic..:

Best, Stephanie ; Fehlberg, Zoe ; Richards, Christopher...
European Journal of Human Genetics. , 2024

2

Challenges and approaches to calibrating patient phenotype ..:

Fortuno, Cristina ; Michailidou, Kyriaki ; Parsons, Michael...
Human Molecular Genetics. 33 (2024) 8 - p. 724-732 , 2024

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

3

TP53-associated early breast cancer: new observations from ..:

Sandoval, Renata L ; Bottosso, Michele ; Tianyu, Li...
JNCI: Journal of the National Cancer Institute. , 2024

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

4

Nationally accessible pathways to share RNA assay data for ..:

Tudini, Emma ; Pendlebury, Grace ; Spurdle, Amanda B.
Pathology. 56 (2024) - p. S21 , 2024

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

5

Male with an apparently normal phenotype carrying a BRCA1 e..:

Block, Ines ; Mateu-Regué, Àngels ; Do, Thi Tuyet Nhu...
Breast Cancer Research. 26 (2024) 1 - p. , 2024

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

6

Multi-trait genome-wide association study identifies a nove..:

Wang, Xuemin ; Kho, Pik Fang ; Ramachandran, Dhanya...
iScience. 26 (2023) 5 - p. 106590 , 2023

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

7

Using the ACMG/AMP framework to capture evidence related to..:

Walker, Logan C. ; Hoya, Miguel de la ; Wiggins, George A.R....
The American Journal of Human Genetics. 110 (2023) 7 - p. 1046-1067 , 2023

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

8

SpliceAI-10k calculator for the prediction of pseudoexoniza..:

Canson, Daffodil M ; Davidson, Aimee L ; de la Hoya, Miguel...
Bioinformatics. 39 (2023) 4 - p. , 2023

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

9

Correspondence on "Technical standards for the interpretati..:

Spurdle, Amanda B. ; Drackley, Andrew ; Ing, Alexander...
Genetics in Medicine. 25 (2023) 8 - p. 100868 , 2023

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

10

Genome-wide analyses characterize shared heritability among..:

Lindström, Sara ; Wang, Lu ; Feng, Helian...
JNCI: Journal of the National Cancer Institute. 115 (2023) 6 - p. 712-732 , 2023

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

11

Design and quality control of large-scale two-sample Mendel..:

Haycock, Philip C ; Borges, Maria Carolina ; Burrows, Kimberley...
International Journal of Epidemiology. 52 (2023) 5 - p. 1498-1521 , 2023

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

12

The association between genetically elevated polyunsaturate..:

Haycock, Philip C. ; Borges, Maria Carolina ; Burrows, Kimberley...
eBioMedicine. 91 (2023) - p. 104510 , 2023

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

13

Exploring the impact of the reclassification of a hereditar..:

Wedd, Laura ; Gleeson, Margaret ; Meiser, Bettina...
Journal of Community Genetics. 14 (2023) 3 - p. 307-317 , 2023

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

14

The splicing effect of variants at branchpoint elements in ..:

Canson, Daffodil M. ; Dumenil, Troy ; Parsons, Michael T....
Genetics in Medicine. 25 (2023) 1 - p. 166 , 2023

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

15

Splicing annotation of endometrial cancer GWAS risk loci re..:

Canson, Daffodil M. ; O'Mara, Tracy A. ; Spurdle, Amanda B..
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100185 , 2023

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