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Spurdle, A.B. (Amanda)
846
results:
Search for persons
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Format
Online (846)
Mediatypes
E-Books (1)
Articles (Online) (260)
Bookchapter (Online) (3)
OpenAccess-fulltext (582)
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english (780)
spanish (1)
Sorted by: Relevance
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?
1
Regional-specific calibration enables application of comput..:
Villani, Rehan M.
;
McKenzie, Maddison E.
;
Davidson, Aimee L.
.
The American Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1016/..
?
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
Reanalysis of genomic data in rare disease: current practic..:
Best, Stephanie
;
Fehlberg, Zoe
;
Richards, Christopher
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
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
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/..
?
7
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/..
?
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/..
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9
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/..
?
10
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/..
?
11
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/..
?
12
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/..
?
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
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/..
?
15
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/..
1-15