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Nicholas Pachter

Showing results (31-40 of 56) with videos related to

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NPJ Genomic Medicine|December 11, 2020
A flexible computational pipeline for research analyses of unsolved clinical exome casesTimo Lassmann, Richard W Francis, Alexia Weeks, et al.
JCO Precision Oncology|February 27, 2024
Cancer Risks Associated With <i>TP53</i> Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome SpectrumCristina Fortuno, Bing-Jian Feng, Courtney Carroll, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
Adenomas from individuals with pathogenic biallelic variants in the <i>MUTYH</i> and <i>NTHL1</i> genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applicationsRomy Walker, Jihoon E Joo, Khalid Mahmood, et al.
NPJ Breast Cancer|December 10, 2021
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testingMelissa C Southey, James G Dowty, Moeen Riaz, et al.
Hereditary Cancer in Clinical Practice|May 5, 2022
Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitalsJulia Steinberg, Priscilla Chan, Emily Hogden, et al.
Translational Oncology|January 10, 2025
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applicationsRomy Walker, Jihoon E Joo, Khalid Mahmood, et al.
Cancers|October 28, 2023
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial GlandsRomy Walker, Khalid Mahmood, Julia Como, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
JBI Evidence Implementation|February 24, 2026
Comparing theory-driven and intuition-based approaches to inform implementation strategies in practice: an exploratory two-arm cluster-randomized head-to-head implementation trialJulia Steinberg, Priscilla Chan, Sarsha Yap, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
NPJ Genomic Medicine|December 11, 2020
A flexible computational pipeline for research analyses of unsolved clinical exome casesTimo Lassmann, Richard W Francis, Alexia Weeks, et al.
JCO Precision Oncology|February 27, 2024
Cancer Risks Associated With <i>TP53</i> Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome SpectrumCristina Fortuno, Bing-Jian Feng, Courtney Carroll, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
Adenomas from individuals with pathogenic biallelic variants in the <i>MUTYH</i> and <i>NTHL1</i> genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applicationsRomy Walker, Jihoon E Joo, Khalid Mahmood, et al.
NPJ Breast Cancer|December 10, 2021
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testingMelissa C Southey, James G Dowty, Moeen Riaz, et al.
Hereditary Cancer in Clinical Practice|May 5, 2022
Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitalsJulia Steinberg, Priscilla Chan, Emily Hogden, et al.
Translational Oncology|January 10, 2025
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applicationsRomy Walker, Jihoon E Joo, Khalid Mahmood, et al.
Cancers|October 28, 2023
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial GlandsRomy Walker, Khalid Mahmood, Julia Como, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
JBI Evidence Implementation|February 24, 2026
Comparing theory-driven and intuition-based approaches to inform implementation strategies in practice: an exploratory two-arm cluster-randomized head-to-head implementation trialJulia Steinberg, Priscilla Chan, Sarsha Yap, et al.
Pageof 6