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Nicholas Pachter

4PUBLICATIONS
167CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Cancer geneticsEpigenetics (incl. genome methylation and epigenomics)
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Journal

Publications (4)

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|Aug 12, 2025
Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

Renee Johnson, Robert A Fletcher, Stacey Peters

|Feb 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 Spectrum.

Cristina Fortuno, Bing-Jian Feng, Courtney Carroll

|Dec 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating Variant.

Edgar T Hoorntje, Charlotte Burns, Luisa Marsili

|Mar 09, 2022
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

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Frequent Collaborators

2 joint publications

Richard D Bagnall

2 joint publications

Euan A Ashley

2 joint publications

Christopher Semsarian

2 joint publications

Eric Haan

2 joint publications

Tina Thompson

2 joint publications

Victoria N Parikh

2 joint publications

Jan D H Jongbloed

2 joint publications

Paul James

2 joint publications

Rachel Williams

2 joint publications

Amanda B Spurdle

Frequent Collaborators

2 joint publications

Richard D Bagnall

2 joint publications

Euan A Ashley

2 joint publications

Christopher Semsarian

2 joint publications

Eric Haan

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