E-LIB Suche - Ergebnisse für: Thompson, Bryony A

1

Specifications of the ACMG/AMP Variant Curation Guidelines ..:

DeMille, Desiree ; McDonald, Jamie ; Bernabeu, Carmelo...
Human Mutation. 2024 (2024) - p. 1-13 , 2024

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

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/..

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

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

Quantitative modeling:

, In: Clinical DNA Variant Interpretation,

Thompson, Bryony A. ; Fortuno, Cristina - p. 41-58 , 2021

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

13

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/..

14

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/..

15

Two integrated and highly predictive functional analysis-ba..:

Drost, Mark ; Tiersma, Yvonne ; Glubb, Dylan...
Genetics in Medicine. 22 (2020) 5 - p. 847-856 , 2020

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