Publications by authors named "Nicholas Pachter"

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Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Renee Johnson, Robert A Fletcher, Stacey Peters, Monique Ohanian, Magdalena Soka, Nicholas Pachter

Eur Heart J· December 2025

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Assessing the unmet needs of genomic testing in Australia: a geospatial exploration.
Sarah Casauria, Felicity Collins, Susan M White, Paul Konings, Mathew Wallis, Nicholas Pachter

Eur J Hum Genet· April 2025

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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 applications.
Romy Walker, Jihoon E Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Nicholas Pachter

Transl Oncol· February 2025

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Nationwide, Couple-Based Genetic Carrier Screening.
Edwin P Kirk, Martin B Delatycki, Alison D Archibald, Erin Tutty, Jade Caruana, Nicholas Pachter

N Engl J Med· November 2024

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Adenomas from individuals with pathogenic biallelic variants in the and genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.
Romy Walker, Jihoon E Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Nicholas Pachter

medRxiv· August 2024

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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Rachel Austin, Jaye S Brown, Sarah Casauria, Evanthia O Madelli, Tessa Mattiske, Nicholas Pachter

Genet Med Open· March 2024

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Cancer Risks Associated With Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy Kohlmann, Nicholas Pachter

JCO Precis Oncol· February 2024

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DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Romy Walker, Khalid Mahmood, Julia Como, Mark Clendenning, Jihoon E Joo, Nicholas Pachter

Cancers (Basel)· October 2023

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The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Aimee L Davidson, Uwe Dressel, Sarah Norris, Daffodil M Canson, Dylan M Glubb, Nicholas S Pachter

Genome Med· September 2023

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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Nicholas Pachter

J Transl Med· April 2023

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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Nicholas Pachter

medRxiv· March 2023

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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin () Truncating Variant.
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Nicholas Pachter

Circ Genom Precis Med· February 2023

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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
Alison D Archibald, Belinda J McClaren, Jade Caruana, Erin Tutty, Emily A King, Nicholas Pachter

J Pers Med· October 2022

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TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members.
Rachel Delahunty, Linh Nguyen, Stuart Craig, Belinda Creighton, Dinuka Ariyaratne, Nicholas Pachter

J Clin Oncol· June 2022

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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 hospitals.
Julia Steinberg, Priscilla Chan, Emily Hogden, Gabriella Tiernan, April Morrow, Nicholas Pachter

Hered Cancer Clin Pract· May 2022

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Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study.
Bettina Meiser, Melissa Monnik, Rachel Austin, Cassandra Nichols, Elisa Cops, Nicholas Pachter

J Community Genet· February 2022

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Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
Emma Tudini, Aimee L Davidson, Uwe Dressel, Lesley Andrews, Yoland Antill, Nicholas Pachter

J Med Genet· December 2021

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Melissa C Southey, James G Dowty, Moeen Riaz, Jason A Steen, Anne-Laure Renault, Nicholas Pachter

NPJ Breast Cancer· December 2021

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A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Elizabeth K Bancroft, Elizabeth C Page, Mark N Brook, Sarah Thomas, Natalie Taylor, Nicholas Pachter

Lancet Oncol· November 2021

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Patient Satisfaction with Private Genetic Counselling for Familial Cancer in Western Australia: A Prospective Audit.
Charmi N Perera, Sarah O'Sullivan, Nicholas Pachter, Jason Jit-Sun Tan, Paul A Cohen

Asian Pac J Cancer Prev· October 2021

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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Karen M Knapp, Danielle E Jenkins, Rosie Sullivan, Frederike L Harms, Leonie von Elsner, Nicholas Pachter

Eur J Hum Genet· July 2021

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Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.
Surabhi Gupta, Cassandra B Nichols, Jessica Phillips, Sarah O'Sullivan, Chloe Ayres, Nicholas Pachter

Int J Gynecol Cancer· June 2021

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Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Edwin P Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Nicholas Pachter

Eur J Hum Genet· January 2021

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A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Timo Lassmann, Richard W Francis, Alexia Weeks, Dave Tang, Sarra E Jamieson, Nicholas Pachter

NPJ Genom Med· December 2020

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Disclosing genetic information to family members without consent: Five Australian case studies.
Jane Tiller, Gemma Bilkey, Rebecca Macintosh, Sarah O'Sullivan, Stephanie Groube, Nicholas Pachter

Eur J Med Genet· November 2020

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