A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations
- Creator: Palmer, Elizabeth E. , Kumar, Raman , Oufadem, Myriam , Lalani, Seema R. , Lewis, Andrea M. , Xia, Fan , Tam, Allison , Webster, Richard , Brammah, Susan , Filippini, Francesca , Pollard, John , Spies, Judy , Gordon, Christopher T. , Minoche, Andre E. , Cowley, Mark J. , Risen, Sarah , Powell-Hamilton, Nina N. , Tusi, Jessica E. , Immken, LaDonna , Nagakura, Honey , Bole-Feysot, Christine , Nitschké, Patrick , Garrigue, Alexandrine , Shaw, Marie , de Saint Basile, Geneviève , Kivuva, Emma , Scott, Richard H. , Rendon, Augusto , Munnich, Arnold , Newman, William , Kerr, Bronwyn , Besmond, Claude , Rosenfeld, Jill A. , Amiel, Jeanne , Hubert, Laurence , Field, Michael , Gecz, Jozef , Carroll, Renee , Rio, Marlène , Murray, Lucinda , Leffler, Melanie , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2017
Fryns syndrome associated with recessive mutations in PIGN in two separate families
- Creator: McInerney-Leo, Aideen M. , Harris, Jessica E. , Brown, Matthew A. , Leo, Paul J. , Wicking, Carol , Duncan, Emma L. , Gattas, Michael , Peach, Elizabeth E. , Sinnott, Stephen , Dudding-Byth, Tracy , Rajagopalan, Sulekha , Barnett, Christopher P. , Anderson, Lisa K. , Wheeler, Lawrie
- Resource Type: journal article
- Date: 2016
Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures
- Creator: Petrovski, Slavé , Kury, Sébastien , Besnard, Thomas , Becraft, Emily , Wadley, Alexandrea , Politi, Anya Revah , Colombo, Sophie , Zhu, Xiaolin , Ren, Zhong , Andrews, Ian , Dudding-Byth, Tracy , Schneider, Amy L. , Myers, Candace T. , Anyane-Yeboa, Kwame , Cogné, Benjamin , Bialer, Martin , Xia, Fan , Hemati, Parisa , Riviello, James , Mehaffey, Michele
- Resource Type: journal article
- Date: 2016
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
- Creator: Zambonin, Jessica L. , Bellomo, Allison , Koenig, Mary Kay , Lines, Matthew , Palmer, Elizabeth Emma , Richardson, Randal , Segel, Reeval , Tarnopolsky, Mark , Vanstone, Jason R. , Gibbons, Melissa , Collins, Abigail , Fogel, Brent L. , Ben-Pazi, Hilla , Dudding-Byth, Tracy , Boycott, Kym M. , Everman, David B. , Frazer, Lee M. , Geraghty, Michael T. , Harper, Amy D. , Jones, Julie R. , Kamien, Benjamin , Kernohan, Kristin
- Resource Type: journal article
- Date: 2017
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- Creator: Corbett, Mark A. , Dudding-Byth, Tracy , Friend, Kathryn L. , Crawford, Jo , Jackson, Graeme , Vandeleur, Lucianne , Hackett, Anna , Tarpey, Patrick , Stratton, Michael R. , Turner, Gillian , Gécz, Jozef , Field, Michael , Crock, Patricia A. , Botta, Elena , Christie, Louise M. , Nardo, Tiziana , Caligiuri, Giuseppina , Hobson, Lynne , Boyle, Jackie , Mansour, Albert
- Resource Type: journal article
- Date: 2015
Atypical Angelman syndrome due to a mosaic imprinting defect: case reports and review of the literature
- Creator: Le Fevre, Anna , Beygo, Jasmin , Silveira, Cheryl , Kamien, Benjamin , Clayton-Smith, Jill , Colley, Alison , Buiting, Karin , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2017
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
- Creator: Dudding-Byth, Tracy , Baxter, Anne , Kleefstra, Tjitske , Ratwatte, Seshika , Riveros, Carlos , Brain, Steve , Lovell, Brian C. , Holliday, Elizabeth G. , Hackett, Anna , O'Donnell, Sheridan , White, Susan M. , Attia, John , Brunner, Han , de Vries, Bert , Koolen, David
- Resource Type: journal article
- Date: 2017