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Wendy Chung

Showing results (81-90 of 92) with videos related to

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American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
American Journal of Human Genetics|April 5, 2026
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Medrxiv : the Preprint Server for Health Sciences|June 19, 2023
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populationsNiall J Lennon, Leah C Kottyan, Christopher Kachulis, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
American Journal of Human Genetics|August 8, 2020
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer RiskMinta Thomas, Lori C Sakoda, Michael Hoffmeister, et al.
American Journal of Human Genetics|March 5, 2021
Response to Li and HopperMinta Thomas, Lori C Sakoda, Michael Hoffmeister, et al.
Journal of Medical Genetics|July 14, 2023
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in IsraelHagai Levi, Shai Carmi, Saharon Rosset, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|June 26, 2012
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriersYuan C Ding, Lesley McGuffog, Sue Healey, et al.
Pageof 10

Showing results (81-90 of 92) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
American Journal of Human Genetics|April 5, 2026
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Medrxiv : the Preprint Server for Health Sciences|June 19, 2023
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populationsNiall J Lennon, Leah C Kottyan, Christopher Kachulis, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
American Journal of Human Genetics|August 8, 2020
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer RiskMinta Thomas, Lori C Sakoda, Michael Hoffmeister, et al.
American Journal of Human Genetics|March 5, 2021
Response to Li and HopperMinta Thomas, Lori C Sakoda, Michael Hoffmeister, et al.
Journal of Medical Genetics|July 14, 2023
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in IsraelHagai Levi, Shai Carmi, Saharon Rosset, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|June 26, 2012
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriersYuan C Ding, Lesley McGuffog, Sue Healey, et al.
Pageof 10