Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68

by Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Desirée du Sart, Robert Heard, David Eugeny Godler
Published 2017-01-01

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

by Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Desirée du Sart, Robert Heard, David Eugeny Godler
Published 2016-09-01

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disa...

by Tracy Dudding-Byth, Anne Baxter, Elizabeth G. Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell
Published 2017-12-01

Significantly Elevated <i>FMR1</i> mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

by Michael Field, Tracy Dudding-Byth, Marta Arpone, Emma K. Baker, Solange M. Aliaga, Carolyn Rogers, Chriselle Hickerton, David Francis, Dean G. Phelan, Elizabeth E. Palmer, David J. Amor, Howard Slater, Lesley Bretherton, Ling Ling, David E. Godler
Published 2019-08-01

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

by Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott
Published 2017-06-01

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

by Christoffer Nellåker, Christoffer Nellåker, Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Gareth Baynam, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Evan E. Eichler, Michael Ferlaino, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Nina Hallowell, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium
Published 2019-07-01