E-LIB Suche - Ergebnisse für: Pesaran, Tina

1

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/..

2

ClinGen guidance for use of the PP1/BS4 co-segregation and ..:

Biesecker, Leslie G. ; Byrne, Alicia B. ; Harrison, Steven M....
The American Journal of Human Genetics. 111 (2024) 1 - p. 24-38 , 2024

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

3

Recommendations for risk allele evidence curation, classifi..:

Schmidt, Ryan J. ; Steeves, Marcie ; Bayrak-Toydemir, Pinar...
Genetics in Medicine. 26 (2024) 3 - p. 101036 , 2024

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

4

Gene-specific ACMG/AMP classification criteria for germline..:

Spier, Isabel ; Yin, Xiaoyu ; Richardson, Marcy...
Genetics in Medicine. 26 (2024) 2 - p. 100992 , 2024

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

5

Functional analysis and clinical classification of 462 germ..:

Hu, Chunling ; Huang, Huaizhi ; Na, Jie...
The American Journal of Human Genetics. 111 (2024) 3 - p. 584-593 , 2024

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

6

P712: A novel framework for use of the PP1/BS4 co-segregati..:

Biesecker, Leslie ; Byrne, Alicia ; Harrison, Steven...
Genetics in Medicine Open. 2 (2024) - p. 101616 , 2024

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

7

P103: Operationalizing structured curated scientific litera..:

Ritter, Deborah ; Badduke, Chansonette ; Anderson, Michael...
Genetics in Medicine Open. 2 (2024) - p. 100984 , 2024

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

8

Functional and Clinical Characterization of Variants of Unc..:

Hu, Chunling ; Nagaraj, Anil Belur ; Shimelis, Hermela...
Cancer Research. 83 (2023) 15 - p. 2557-2571 , 2023

Link: https://doi.org/10.1158/..

9

P061: ATM and PALB2 variant curation guidelines progress up..:

Holdren, Megan ; Richardson, Marcy ; Ritter, Deborah...
Genetics in Medicine Open. 1 (2023) 1 - p. 100080 , 2023

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

10

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/..

11

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/..

12

Calibration of computational tools for missense variant pat..:

Pejaver, Vikas ; Byrne, Alicia B. ; Feng, Bing-Jian...
The American Journal of Human Genetics. 109 (2022) 12 - p. 2163-2177 , 2022

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

13

Quantifying evidence toward pathogenicity for rare phenotyp..:

Garrett, Alice ; Loveday, Chey ; King, Laura...
Genetics in Medicine. 24 (2022) 1 - p. 41-50 , 2022

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

14

Clinical, splicing, and functional analysis to classifyBRCA..:

Thomassen, Mads ; Mesman, Romy L. S. ; Hansen, Thomas V. O....
Human Mutation. 43 (2022) 12 - p. 1921-1944 , 2022

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

15

An integrative model for the comprehensive classification o..:

Iversen Jr., Edwin S. ; Lipton, Gary ; Hart, Steven N....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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