“DCC mutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome.”
Human Mutation. Volume 39, Issue 1, 23-39 2018
Ashley PL Marsh*#, Timothy J Edwards, Charles Galea, Helen MCooper, Elizabeth C Engle, Saumya S Jamuar, Aurélie Méneret, Marie-LaureMoutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy Rouleau, EmmanuelRoze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur,Christopher A Walsh, Timothy W Yu, IRC5 Consortium, Delphine Heron, Elliott HSherr, Linda J Richards, Christel Depienne, Richard J Leventer and Paul J
“Mutations in DCC cause isolated agenesis of the corpuscallosum with incomplete penetrance.”
Nature Genetics. Volume 49, Issue 4, 511-514 2017
Ashley PL Marsh*, Delphine Heron*, Timothy J Edwards*,Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie-LaureMoutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, CatherineGarel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren,Fabien Lesne, Vesna Lukic, Simone A Mandelstam, George Mcgillivray, AlissandraMcIlroy, Aurélie Méneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, AnnalisaPaolino, Kate Pope, Florence Riant, Gail Robinson, Megan Spencer-Smith, MyriamSrour, Sarah E Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz,Amanda Wood, Alexis Brice, Guy Rouleau,Tania Attié-Bitach, Martin B Delatycki, Jean-Louis Mande, David J Amor,Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur,Elliott H Sherr, Richard J Leventer, Linda J Richards#, Paul J Lockhart# andChristel Depienne#. Lockhart.
“A novel AMPD2 mutation outside the AMP deaminase domaincauses pontocerebellar hypoplasia type 9.”
American Journal of Medical Genetics Part A. Volume 173,Issue 3, 820-823 2017
Ashley PL Marsh*, Patrick Yap, Tiong Tan, Kate Pope, Susan MWhite, Belinda Chong, George Mcgillivray, Amber Boys, Sarah EM Stephenson,Richard J Leventer, Zornitza Stark and Paul J Lockhart#.
“Complete callosal agenesis, pontocerebellar hypoplasia, andaxonal neuropathy due to AMPD2 loss.”
Neurology: Genetics. Volume 1, Issue 2, e16 2015
Ashley P.L. Marsh*, Vesna Lukic, Kate Pope, CatherineBromhead, Rick Tankard, Monique M. Ryan, Eppie M. Yiu, Joe C.H. Sim, Martin B.Delatycki, David J. Amor, George McGillivray, Elliott H. Sherr, Melanie Bahlo,Richard J. Leventer and Paul J. Lockhart#.
“Hemispheric cortical dysplasia secondary to a mosaicsomatic mutation in MTOR.”
Neurology. Volume 84, Issue 20, 2029-2032 2015
Leventer RJ*, Scerri T, Marsh APL, Pope K, Gillies G,Maixner W, MacGregor D, Harvey AS, Delatycki MB, Amor DJ, Crino P, Bahlo M andLockhart PJ#.