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

Autor: Christoffer Nellåker, Fowzan S. Alkuraya, 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, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, 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

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technolo

Externí odkaz: https://doaj.org/article/458e4c05c18146f2b21c7405c0d99685

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

Autor: E El-Anany, Jennifer E. Posey, Shalini N. Jhangiani, S Guliyeva, Jill A. Rosenfeld, Khalid A. Fakhro, Vasiliki Karageorgou, A A Subhi, R. A. Gibbs, A Al-Maraghi, Sarah H. Elsea, Amal Alhashem, Henry Houlden, Charul Gijavanekar, M S Breilyn, Dana Marafi, Joseph G. Gleeson, Christian Beetz, E Sites, Hessa S. Alsaif, Vernon R. Sutton, Jill V. Hunter, Fowzan S. Alkuraya, M Zakkariah, C Gaba, James R. Lupski, Erin Torti, Davut Pehlivan, Z. Coban Akdemir, Matteo P. Ferla, S Duberstein, Haowei Du, Mohamed S. Abdel-Hamid, Ulviyya Guliyeva, M Sebastin, Jenny C. Taylor, E Danish, Reza Maroofian, A Haseeb, Rauan Kaiyrzhanov, Maha S. Zaki, Mohammed Al-Owain, S V Mullegama, Ning Liu, Jawid M Fatih, Tadahiro Mitani

Publikováno v: Brain

The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed in the mammali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f130cdf3a22713ed899327cf8be36a86
https://doi.org/10.1093/brain/awab369

The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII

Autor: Jaime López-Valdez, Deborah Marsden, José Francisco da Silva Franco, Chester B. Whitley, Agnieszka Jurecka, Raymond Y. Wang, Tricia Cimms, Lin Zhang, Esmeralda Martins, Vernon R. Sutton, Paul Harmatz

Publikováno v: Molecular Genetics and Metabolism. 129:219-227

Vestronidase alfa (recombinant human beta-glucuronidase) is an enzyme replacement therapy (ERT) for Mucopolysaccharidosis (MPS) VII, a highly heterogeneous, ultra-rare disease. Twelve subjects, ages 8-25 years, completed a Phase 3, randomized, placeb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626aecd03a8f13445a61354db82d8ce8
https://doi.org/10.1016/j.ymgme.2020.01.003

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Autor: Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3

Contains fulltext : 202928.pdf (Publisher’s version ) (Open Access) Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b42ef2b2b430d69e0a64d8edee87da3
https://doi.org/10.1016/j.ajhg.2019.01.010

Long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis type VII

Autor: Raymond Y. Wang, José Francisco da Silva Franco, Jaime López-Valdez, Esmeralda Martins, Vernon R. Sutton, Chester B. Whitley, Lin Zhang, Tricia Cimms, Deborah Marsden, Agnieszka Jurecka, Paul Harmatz

Publikováno v: Molecular Genetics and Metabolism. 129:S158-S159

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::df44fb3610d6948946b5142339f1b27b
https://doi.org/10.1016/j.ymgme.2019.11.422