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American Journal of Human Genetics
|
April 15, 2025
Structural biology in variant interpretation: Perspectives and practices from two studies
Matthew J Varga, Marcy E Richardson, Adam Chamberlin
JCO Precision Oncology
|
January 20, 2022
RNA-Seq Analysis Is a Useful Tool in Variant Classification
Rachid Karam, Holly LaDuca, Marcy E Richardson, et al.
Human Molecular Genetics
|
August 15, 2013
Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility
Marcy E Richardson, Andreas Bleiziffer, Frank Tüttelmann, et al.
HGG Advances
|
July 23, 2025
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53
Cristina Fortuno, Marcy E Richardson, Tina Pesaran, et al.
Frontiers in Oncology
|
June 16, 2025
Case Report: Biallelic <i>BRCA1</i> pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location
Colin C Young, Ashley Lahr, Caroline Nestor, et al.
Cold Spring Harbor Molecular Case Studies
|
October 30, 2021
Classification of the canonical splice alteration <i>MUTYH</i> c.934-2A > G is likely benign based on RNA and clinical data
Felicia Hernandez, Blair R Conner, Marcy E Richardson, et al.
JCO Precision Oncology
|
August 27, 2025
Association of <i>RPS20</i> Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals
Jennifer Herrera-Mullar, Cassidy Carraway, Ashley P L Marsh, et al.
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.
JCO Precision Oncology
|
January 8, 2026
Erratum: Association of <i>RPS20</i> Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals
Jennifer Herrera-Mullar, Cassidy Carraway, Ashley P L Marsh, et al.
Genes
|
November 27, 2025
A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing
Heather Zimmermann, Terra Brannan, Colin Young, et al.
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of 6
Search research articles
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Showing results (1-10 of 58) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
April 15, 2025
Structural biology in variant interpretation: Perspectives and practices from two studies
Matthew J Varga, Marcy E Richardson, Adam Chamberlin
JCO Precision Oncology
|
January 20, 2022
RNA-Seq Analysis Is a Useful Tool in Variant Classification
Rachid Karam, Holly LaDuca, Marcy E Richardson, et al.
Human Molecular Genetics
|
August 15, 2013
Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility
Marcy E Richardson, Andreas Bleiziffer, Frank Tüttelmann, et al.
HGG Advances
|
July 23, 2025
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53
Cristina Fortuno, Marcy E Richardson, Tina Pesaran, et al.
Frontiers in Oncology
|
June 16, 2025
Case Report: Biallelic <i>BRCA1</i> pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location
Colin C Young, Ashley Lahr, Caroline Nestor, et al.
Cold Spring Harbor Molecular Case Studies
|
October 30, 2021
Classification of the canonical splice alteration <i>MUTYH</i> c.934-2A > G is likely benign based on RNA and clinical data
Felicia Hernandez, Blair R Conner, Marcy E Richardson, et al.
JCO Precision Oncology
|
August 27, 2025
Association of <i>RPS20</i> Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals
Jennifer Herrera-Mullar, Cassidy Carraway, Ashley P L Marsh, et al.
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.
JCO Precision Oncology
|
January 8, 2026
Erratum: Association of <i>RPS20</i> Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals
Jennifer Herrera-Mullar, Cassidy Carraway, Ashley P L Marsh, et al.
Genes
|
November 27, 2025
A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing
Heather Zimmermann, Terra Brannan, Colin Young, et al.
Page
of 6