Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

by Peter J Taylor, Grant A Betts, Sarah Maroulis, Christian Gilissen, Robyn L Pedersen, David R Mowat, Heather M Johnston, Michael F Buckley
Published 2010-01-01

<i>CDH1</i> Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer

by Arthavan Selvanathan, Cheng Yee Nixon, Ying Zhu, Luigi Scietti, Federico Forneris, Lina M. Moreno Uribe, Andrew C. Lidral, Peter A. Jezewski, John B. Mulliken, Jeffrey C. Murray, Michael F. Buckley, Timothy C. Cox, Tony Roscioli
Published 2020-04-01

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

by Lisenka E L M Vissers, Timothy C Cox, A Murat Maga, Kieran M Short, Fenny Wiradjaja, Irene M Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L Cunningham, Peter J Anderson, Simeon A Boyadjiev, Maria Rita Passos-Bueno, Joris A Veltman, Ian Smyth, Michael F Buckley, Tony Roscioli
Published 2011-09-01