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Tina Pesaran

Ambry Genetics (United States)(US)

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132

Papers

6.1K

Citations

33

h-index

55

i10-index

Tina Pesaran is an academic researcher from Ambry Genetics (United States). The author has contributed to research in topics: Genomics and Rare Diseases & BRCA gene mutations in cancer & Cancer Genomics and Diagnostics. The author has an h-index of 33, co-authored 113 publications.

ORCID: 0000-0001-9807-4304

Research Topics

Genomics and Rare Diseases BRCA gene mutations in cancer Cancer Genomics and Diagnostics Genetic factors in colorectal cancer Genomic variations and chromosomal abnormalities

Papers by this author

works

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2018 · Human Mutation · 821 citations

https://doi.org/10.1002/humu.23626

Ahmad Abou Tayoun Tina Pesaran Marina T. DiStefano Andrea M. Oza

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

2022 · The American Journal of Human Genetics · 471 citations

https://doi.org/10.1016/j.ajhg.2022.10.013

Vikas Pejaver Alicia B. Byrne Bing Feng Kymberleigh A. Pagel

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

2014 · Genetics in Medicine · 335 citations

https://doi.org/10.1038/gim.2014.40

Holly LaDuca Aaron J. Stuenkel Jill S. Dolinsky Steven Keiles

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

2023 · The American Journal of Human Genetics · 254 citations

https://doi.org/10.1016/j.ajhg.2023.06.002

Logan C. Walker Miguel de la Hoya George A. R. Wiggins Amanda Lindy

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

2023 · The American Journal of Human Genetics · 254 citations

https://doi.org/10.1016/j.ajhg.2023.06.002

Logan C. Walker Miguel de la Hoya George A. R. Wiggins Amanda Lindy

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

2019 · Genetics in Medicine · 212 citations

https://doi.org/10.1038/s41436-019-0633-8

Holly LaDuca Eric C. Polley Amal Yussuf Lily Hoang

Research topics

topics

Genomics and Rare Diseases

BRCA gene mutations in cancer

Cancer Genomics and Diagnostics

Genetic factors in colorectal cancer

Genomic variations and chromosomal abnormalities

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