Khalid Mahmood

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.

Peter Georgeson, Bernard J Pope, Christophe Rosty, Mark Clendenning, Khalid Mahmood, Jihoon E Joo, Romy Walker, Ryan A Hutchinson, Susan Preston, Julia Como, Sharelle Joseland, Aung Ko Win, Finlay A Macrae, John L Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M Sieber, Dylan E O'Sullivan, Darren R Brenner, Steve Gallinger, et al.

Journal article  |  2021  |  Gut

OBJECTIVE: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene MUTYH un..

DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer

Jihoon E Joo, Mark Clendenning, Ee Ming Wong, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Ingrid M Winship, Susan G Preston, Aung Ko Win, Pierre-Antoine Dugue, Harindra Jayasekara, Dallas English, Finlay A Macrae, John L Hopper, Mark A Jenkins, Roger L Milne, Graham G Giles, Melissa C Southey, Daniel D Buchanan

Journal article  |  2021  |  CANCERS

We investigated aberrant DNA methylation (DNAm) changes and the contribution of ageing-associated methylomic drift and age acceler..

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome

Bernard J Pope, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Jihoon E Joo, Romy Walker, Ryan A Hutchinson, Harindra Jayasekara, Sharelle Joseland, Julia Como, Susan Preston, Amanda B Spurdle, Finlay A Macrae, Aung K Win, John L Hopper, Mark A Jenkins, Ingrid M Winship, Daniel D Buchanan

Journal article  |  2021  |  JOURNAL OF MOLECULAR DIAGNOSTICS

Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or so..

Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

Fadwa A Elsayed, Judith E Grolleman, Abiramy Ragunathan, Daniel D Buchanan, Tom van Wezel, Richarda M de Voer

Journal article  |  2020  |  GASTROENTEROLOGY

Rare germline genetic variants and risk of aggressive prostate cancer

Tu Nguyen-Dumont, Robert J MacInnis, Jason A Steen, Derrick Theys, Helen Tsimiklis, Fleur Hammet, Maryam Mahmoodi, Bernard J Pope, Daniel J Park, Khalid Mahmood, Gianluca Severi, Damien Bolton, Roger L Milne, Graham G Giles, Melissa C Southey

Journal article  |  2020  |  INTERNATIONAL JOURNAL OF CANCER

Few genetic risk factors have been demonstrated to be specifically associated with aggressive prostate cancer (PrCa). Here, we rep..

Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome

Bernard Pope, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Jihoon Joo, Romy Walker, Ryan Hutchinson, Harindra Jayasekara, Sharelle Joseland, Julia Como, Susan Preston, Amanda Spurdle, Finlay Macrae, Aung Win, John Hopper, Mark Jenkins, Ingrid Winship, Daniel Buchanan

Journal article  |  2020

Background People who develop mismatch repair (MMR) deficient cancer in the absence of a germline MMR gene pathogenic variant or h..

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

Peter Georgeson, Bernard Pope, Christophe Rosty, Mark Clendenning, Romy Walker, Khalid Mahmood, Jihoon Joo, Ryan Hutchinson, Susan Preston, Julia Como, Sharelle Joseland, Aung Ko Win, Finlay Macrae, John Hopper, Mark Jenkins, Ingrid Winship, Daniel Buchanan

Journal article  |  2019

Objective: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and the base excision repair genes NTHL1 and ..

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

Fleur Hammet, Khalid Mahmood, Thomas R Green, Nguyen-Dumont Tu, Melissa C Southey, Daniel D Buchanan, Andrew Lonie, Katherine L Nathanson, Fergus J Couch, Bernard J Pope, Daniel J Park

Journal article  |  2019  |  BIOTECHNIQUES

We have previously reported Hi-Plex, a multiplex PCR methodology for building targeted DNA sequencing libraries that offers a low-..

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

Peter Georgeson, Michael D Walsh, Mark Clendenning, Simin Daneshvar, Bernard J Pope, Khalid Mahmood, Jihoon E Joo, Harindra Jayasekara, Mark A Jenkins, Ingrid M Winship, Daniel D Buchanan

Journal article  |  2019  |  MOLECULAR GENETICS & GENOMIC MEDICINE

BACKGROUND: Muir-Torre syndrome is defined by the development of sebaceous skin lesions in individuals who carry a germline mismat..

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

Chol-Hee Jung, Daniel J Park, Peter Georgeson, Khalid Mahmood, Roger L Milne, Melissa C Southey, Bernard J Pope

Journal article  |  2018  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

DNA methylation influences predisposition, development and prognosis for many diseases, including cancer. However, it is not uncom..