G
Guy Helman
Researcher at University of Queensland
Publications - 64
Citations - 2075
Guy Helman is an academic researcher from University of Queensland. The author has contributed to research in topics: Leukodystrophy & Leukoencephalopathy. The author has an hindex of 19, co-authored 55 publications receiving 1441 citations. Previous affiliations of Guy Helman include Children's National Medical Center & Columbia University.
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Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
Journal ArticleDOI
Case Definition and Classification of Leukodystrophies and Leukoencephalopathies
Adeline Vanderver,Morgan Prust,Davide Tonduti,Fanny Mochel,Heather M. Hussey,Guy Helman,James Y. Garbern,Florian Eichler,Pierre Labauge,Patrick Aubourg,Diana Rodriguez,Marc C. Patterson,Johan L.K. Van Hove,Johanna L. Schmidt,Nicole I. Wolf,Odile Boespflug-Tanguy,Raphael Schiffmann,Marjo S. van der Knaap +17 more
TL;DR: A case definition of leukodystrophies and classification of heritable white matter disorders will permit more detailed epidemiologic studies of these disorders and help to study the epidemiology and relevance of geneticwhite matter disorders to public health.
Journal ArticleDOI
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
Sumit Parikh,Geneviève Bernard,Richard J. Leventer,Marjo S. van der Knaap,Johan L.K. Van Hove,Amy Pizzino,Nathan McNeill,Guy Helman,Cas Simons,Johanna L. Schmidt,William B. Rizzo,Marc C. Patterson,Ryan J. Taft,Ryan J. Taft,Ryan J. Taft,Adeline Vanderver,Adeline Vanderver +16 more
TL;DR: A workflow detailing the Global Leukodystrophy Initiative (GLIA) consensus recommendations for an approach to clinical diagnosis is presented, including salient clinical features suggesting a specific diagnosis, neuroimaging features and molecular genetic testing.
Journal ArticleDOI
Whole exome sequencing in patients with white matter abnormalities.
Adeline Vanderver,Adeline Vanderver,Cas Simons,Guy Helman,Joanna Crawford,Nicole I. Wolf,Geneviève Bernard,Amy Pizzino,Johanna L. Schmidt,Asako Takanohashi,David M. Miller,David M. Miller,Amirah Khouzam,Vani Rajan,Erica Ramos,Shimul Chowdhury,Tina Hambuch,Kelin Ru,Gregory J. Baillie,Sean M. Grimmond,Sean M. Grimmond,Ljubica Caldovic,Joseph M. Devaney,Miriam Bloom,Sarah H. Evans,Jennifer L. Murphy,Nathan McNeill,Brent L. Fogel,Raphael Schiffmann,Marjo S. van der Knaap,Marjo S. van der Knaap,Ryan J. Taft,Ryan J. Taft,Ryan J. Taft +33 more
TL;DR: Findings provide evidence that WES can substantially decrease the number of unresolved white matter cases, and potentially pathogenic variants were identified in clinically relevant genes in a further 7% of cases.
Journal ArticleDOI
SCN8A encephalopathy: Research progress and prospects
Miriam H. Meisler,Guy Helman,Michael F. Hammer,Brandy E. Fureman,William D. Gaillard,Alan L. Goldin,Shinichi Hirose,Atsushi Ishii,Barbara Kroner,Christoph Lossin,Heather C Mefford,Jack M. Parent,Manoj K. Patel,John M. Schreiber,Randall R. Stewart,Vicky Whittemore,Karen S. Wilcox,Jacy L. Wagnon,Phillip L. Pearl,Adeline Vanderver,Adeline Vanderver,Ingrid E. Scheffer +21 more
TL;DR: Although SCN8A encephalopathy was identified only recently, there has been rapid progress in functional analysis and phenotypic classification and the focus is now shifting from identification of the underlying molecular cause to the development of strategies for drug screening and prioritized patient care.