Fine resolution mapping of double-strand break sites for human ribosomal DNA units by Bernard J. Pope, Khalid Mahmood, Chol-hee Jung, Daniel J. Park

Get full text

Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells by Bernard J. Pope, Khalid Mahmood, Chol-hee Jung, Peter Georgeson, Daniel J. Park

Get full text

A high-plex PCR approach for massively parallel sequencing by Tú Nguyen-Dumont, Bernard J. Pope, Fleur Hammet, Melissa C. Southey, Daniel J. Park

Get full text

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics by Khalid Mahmood, Chol-hee Jung, Gayle Philip, Peter Georgeson, Jessica Chung, Bernard J. Pope, Daniel J. Park

Get full text

Perish and publish: Dynamics of biomedical publications by deceased authors. by Chol-Hee Jung, Paul C Boutros, Daniel J Park, Niall M Corcoran, Bernard J Pope, Christopher M Hovens

Get full text

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data by Chol-Hee Jung, Daniel J. Park, Peter Georgeson, Khalid Mahmood, Roger L. Milne, Melissa C. Southey, Bernard J. Pope

Get full text

HiTIME: An efficient model-selection approach for the detection of unknown drug metabolites in LC-MS data by Michael G. Leeming, Andrew P. Isaac, Luke Zappia, Richard A.J. O’Hair, William A. Donald, Bernard J. Pope

Get full text

A novel Drosophila injury model reveals severed axons are cleared through a Draper/MMP-1 signaling cascade by Maria D Purice, Arpita Ray, Eva Jolanda Münzel, Bernard J Pope, Daniel J Park, Sean D Speese, Mary A Logan

Get full text

Abridged adapter primers increase the target scope of Hi-Plex by Tú Nguyen-Dumont, Fleur Hammet, Maryam Mahmoodi, Bernard J. Pope, Graham G. Giles, Graham G. Hopper, Melissa C. Southey, Daniel J. Park

Get full text

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

Get full text

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening by Fleur Hammet, Khalid Mahmood, Thomas R Green, Tu Nguyen-Dumont, Melissa C Southey, Daniel D Buchanan, Andrew Lonie, Katherine L Nathanson, Fergus J Couch, Bernard J Pope, Daniel J Park

Get full text

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine by Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C. Southey

Get full text

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations? by Tú Nguyen-Dumont, Zhi L. Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Andrew Lonie, Miroslav K. Kapuscinski, Khalid Mahmood, ABCFR, David E. Goldgar, Graham G. Giles, Ingrid Winship, John L. Hopper, Melissa C. Southey

Get full text

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing by Melissa C. Southey, James G. Dowty, Moeen Riaz, Jason A. Steen, Anne-Laure Renault, Katherine Tucker, Judy Kirk, Paul James, Ingrid Winship, Nicholas Pachter, Nicola Poplawski, Scott Grist, Daniel J. Park, Bernard J. Pope, Khalid Mahmood, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Amanda Rewse, Amanda Willis, April Morrow, Catherine Speechly, Rebecca Harris, Robert Sebra, Eric Schadt, Paul Lacaze, John J. McNeil, Graham G. Giles, Roger L. Milne, John L. Hopper, Tú Nguyen-Dumont

Get full text

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome by Romy Walker, Khalid Mahmood, Jihoon E. Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Alex Henderson, Megan Higgins, John L. Hopper, Ryan A. Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O’Connell, Nicholas Pachter, Bernard J. Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A. Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K. Win, Michael D. Walsh, Finlay A. Macrae, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan, for the Family Cancer Clinics of Australia

Get full text

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures by Peter Georgeson, Tabitha A. Harrison, Bernard J. Pope, Syed H. Zaidi, Conghui Qu, Robert S. Steinfelder, Yi Lin, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Romy Walker, Efrat L. Amitay, Sonja I. Berndt, Hermann Brenner, Peter T. Campbell, Yin Cao, Andrew T. Chan, Jenny Chang-Claude, Kimberly F. Doheny, David A. Drew, Jane C. Figueiredo, Amy J. French, Steven Gallinger, Marios Giannakis, Graham G. Giles, Andrea Gsur, Marc J. Gunter, Michael Hoffmeister, Li Hsu, Wen-Yi Huang, Paul Limburg, JoAnn E. Manson, Victor Moreno, Rami Nassir, Jonathan A. Nowak, Mireia Obón-Santacana, Shuji Ogino, Amanda I. Phipps, John D. Potter, Robert E. Schoen, Wei Sun, Amanda E. Toland, Quang M. Trinh, Tomotaka Ugai, Finlay A. Macrae, Christophe Rosty, Thomas J. Hudson, Mark A. Jenkins, Stephen N. Thibodeau, Ingrid M. Winship, Ulrike Peters, Daniel D. Buchanan

Get full text