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Thompson, Bryony A
124
results:
Search for persons
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Online (124)
Mediatypes
Articles (Online) (47)
Bookchapter (Online) (2)
OpenAccess-fulltext (75)
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?
1
P534: Piloting an Australian quality assurance program inte..:
Byrne, Alicia
;
Azmanov, Dimitar
;
Chai, Sze
...
Genetics in Medicine Open. 2 (2024) - p. 101433 , 2024
Link:
https://doi.org/10.1016/..
?
2
Rapid classification of a novel ALS-causing I149S variant i..:
Shephard, Victoria K.
;
Brown, Mikayla L.
;
Thompson, Bryony A.
..
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 25 (2024) 5-6 - p. 608-614 , 2024
Link:
https://doi.org/10.1080/..
?
3
Specifications of the ACMG/AMP Variant Curation Guidelines ..:
DeMille, Desiree
;
McDonald, Jamie
;
Bernabeu, Carmelo
...
Human Mutation. 2024 (2024) - p. 1-13 , 2024
Link:
https://doi.org/10.1155/..
?
4
P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic fr..:
Parsons, Michael
;
Anderson, Michael
;
Berkofsky-Fessler, Windy
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100095 , 2023
Link:
https://doi.org/10.1016/..
?
5
Comprehensive evaluation and efficient classification of BR..:
Clark, Kathleen A.
;
Paquette, Andrew
;
Tao, Kayoko
...
The American Journal of Human Genetics. 109 (2022) 6 - p. 1153-1174 , 2022
Link:
https://doi.org/10.1016/..
?
6
Rivaroxaban in the treatment of TEK‐related venous malforma..:
Oo, Hnin P.
;
Pasricha, Sant‐Rayn
;
Thompson, Bryony
..
Australasian Journal of Dermatology. 63 (2022) 3 - p. , 2022
Link:
https://doi.org/10.1111/..
?
7
Predictive functional assay‐based classification of PMS2 va..:
Rayner, Emily
;
Tiersma, Yvonne
;
Fortuno, Cristina
...
Human Mutation. 43 (2022) 9 - p. 1249-1258 , 2022
Link:
https://doi.org/10.1002/..
?
8
Real world outcomes and implementation pathways of exome se..:
Walsh, Maie
;
West, Kirsty
;
Taylor, Jessica A.
...
Genetics in Medicine. 24 (2022) 7 - p. 1536-1544 , 2022
Link:
https://doi.org/10.1016/..
?
9
Quantitative modeling:
, In:
Clinical DNA Variant Interpretation
,
Thompson, Bryony A.
;
Fortuno, Cristina
- p. 41-58 , 2021
Link:
https://doi.org/10.1016/..
?
10
Genetic variants associated with inherited cardiovascular d..:
Lacaze, Paul
;
Sebra, Robert
;
Riaz, Moeen
...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
11
Genomic Risk Prediction for Breast Cancer in Older Women:
Lacaze, Paul
;
Bakshi, Andrew
;
Riaz, Moeen
...
Cancers. 13 (2021) 14 - p. 3533 , 2021
Link:
https://doi.org/10.3390/..
?
12
Contributors:
, In:
Clinical DNA Variant Interpretation
,
Alves, Ana Catarina
;
Austin-Tse, Christina Anne
;
Bourbon, Mafalda
... - p. xvii-xxi , 2021
Link:
https://doi.org/10.1016/..
?
13
A homozygous truncating variant in GDF9 in siblings with pr..:
Verma, Kunal P.
;
Thompson, Bryony
;
Wolfe, James
...
Journal of Assisted Reproduction and Genetics. 38 (2021) 6 - p. 1539-1543 , 2021
Link:
https://doi.org/10.1007/..
?
14
Genetic Dominant Variants in STUB1, Segregating in Families..:
Pakdaman, Yasaman
;
Berland, Siren
;
Bustad, Helene J.
...
International Journal of Molecular Sciences. 22 (2021) 11 - p. 5870 , 2021
Link:
https://doi.org/10.3390/..
?
15
A novel AFG3L2 mutation close to AAA domain leads to aberra..:
Baderna, Valentina
;
Schultz, Joshua
;
Kearns, Lisa S.
...
Acta Neuropathologica Communications. 8 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
1-15