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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 19, 2023
Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort
Jennifer Herrera-Mullar, Kelly Fulk, Terra Brannan, et al.
Journal of Medical Genetics
|
August 3, 2023
<i>CHEK2</i> is not a Li-Fraumeni syndrome gene: time to update public resources
Cristina Fortuno, Marcy Richardson, Tina Pesaran, et al.
Familial Cancer
|
December 25, 2018
Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort
Kelly Fulk, Holly LaDuca, Mary Helen Black, et al.
Human Mutation
|
January 4, 2020
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53
Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Cancer Genetics
|
September 23, 2020
Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing
Cristina Fortuno, Tina Pesaran, Jessica Mester, et al.
Cancer Genetics
|
July 13, 2019
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients
Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Cancer
|
December 7, 2021
Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics
Brittany L Bychkovsky, Min-Tzu Lo, Amal Yussuf, et al.
Human Mutation
|
July 10, 2021
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer
Sharon E Johnatty, Tina Pesaran, Jill Dolinsky, et al.
Gynecologic Oncology
|
January 8, 2019
Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing
Kelly Fulk, Michael R Milam, Shuwei Li, et al.
Human Mutation
|
July 17, 2021
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy
Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
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of 4
Search research articles
Search
Showing results (1-10 of 31) with videos related to
Sort By:
Page
of 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 19, 2023
Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort
Jennifer Herrera-Mullar, Kelly Fulk, Terra Brannan, et al.
Journal of Medical Genetics
|
August 3, 2023
<i>CHEK2</i> is not a Li-Fraumeni syndrome gene: time to update public resources
Cristina Fortuno, Marcy Richardson, Tina Pesaran, et al.
Familial Cancer
|
December 25, 2018
Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort
Kelly Fulk, Holly LaDuca, Mary Helen Black, et al.
Human Mutation
|
January 4, 2020
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53
Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Cancer Genetics
|
September 23, 2020
Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing
Cristina Fortuno, Tina Pesaran, Jessica Mester, et al.
Cancer Genetics
|
July 13, 2019
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients
Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Cancer
|
December 7, 2021
Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics
Brittany L Bychkovsky, Min-Tzu Lo, Amal Yussuf, et al.
Human Mutation
|
July 10, 2021
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer
Sharon E Johnatty, Tina Pesaran, Jill Dolinsky, et al.
Gynecologic Oncology
|
January 8, 2019
Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing
Kelly Fulk, Michael R Milam, Shuwei Li, et al.
Human Mutation
|
July 17, 2021
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy
Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Page
of 4