What is Next for the Genetics of Multiple Sclerosis?

by Sreeram V. Ramagopalan, David A. Dyment
Published 2011-01-01

The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies

by Heather Leduc-Pessah, Alexandre White-Brown, Taila Hartley, Daniela Pohl, David A. Dyment
Published 2022-05-01

A De Novo Missense Variant in <i>TUBG2</i> in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

by Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A. Dyment, Kristin D. Kernohan
Published 2022-12-01

The inheritance of resistance alleles in multiple sclerosis.

by Sreeram V Ramagopalan, Andrew P Morris, David A Dyment, Blanca M Herrera, Gabriele C DeLuca, Matthew R Lincoln, Sarah M Orton, Michael J Chao, A Dessa Sadovnick, George C Ebers
Published 2007-09-01

Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*1501 is regulated by vitamin D.

by Sreeram V Ramagopalan, Narelle J Maugeri, Lahiru Handunnetthi, Matthew R Lincoln, Sarah-Michelle Orton, David A Dyment, Gabriele C Deluca, Blanca M Herrera, Michael J Chao, A Dessa Sadovnick, George C Ebers, Julian C Knight
Published 2009-02-01

Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development

by Bas M. Smits, Taila Hartley, Ester Dünnebach, Marije Bartels, Kim M. Boycott, Kirstin D. Kernohan, David A. Dyment, Jacques C. Giltay, Elie Haddad, Olga Jarinova, Joris van Montfrans, Annet van Royen-Kerkhof, Lars T. van der Veken, Moniek de Witte, Stefan Nierkens, Anne Pham-Huy, Helen L. Leavis
Published 2022-10-01

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

by Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson
Published 2022-12-01

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

by Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann
Published 2024-03-01

Germline AGO2 mutations impair RNA interference and human neurological development

by Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Published 2020-11-01