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Pesaran, Tina
103
results:
Search for persons
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Online (103)
Mediatypes
Articles (Online) (48)
Bookchapter (Online) (2)
OpenAccess-fulltext (53)
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?
1
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/..
?
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
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/..
?
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
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/..
?
6
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/..
?
7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
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/..
?
13
Suspected clonal hematopoiesis as a natural functional assa..:
Fortuno, Cristina
;
McGoldrick, Kelly
;
Pesaran, Tina
...
Genetics in Medicine. 24 (2022) 3 - p. 673-680 , 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
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/..
1-15