Genome wide identification of recessive cancer genes by combinatorial mutation analysis.

by Stefano Volinia, Nicoletta Mascellani, Jlenia Marchesini, Angelo Veronese, Elizabeth Ormondroyd, Hansjuerg Alder, Jeff Palatini, Massimo Negrini, Carlo M Croce
Published 2008-01-01

Distinct ECG Phenotypes Identified in Hypertrophic Cardiomyopathy Using Machine Learning Associate With Arrhythmic Risk Markers

by Aurore Lyon, Rina Ariga, Ana Mincholé, Masliza Mahmod, Elizabeth Ormondroyd, Pablo Laguna, Nando de Freitas, Stefan Neubauer, Hugh Watkins, Blanca Rodriguez
Published 2018-03-01

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

by John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C. Taylor, Kate L. Thomson, Hugh Watkins, Andrew O. M. Wilkie, Julian C. Knight
Published 2019-07-01

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

by Ryan M. Baxley, Wendy Leung, Megan M. Schmit, Jacob Peter Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh Watkins, Eric A. Hendrickson, Emily M. Mace, Jordan S. Orange, Hideki Aihara, Grant S. Stewart, Edward Blair, Jeanette Gowen Cook, Anja-Katrin Bielinsky
Published 2021-03-01