Scientific publications

2019

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey,  Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, and Peter De Jonghe

Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w.

PubMed OpenAccess

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.

Haidar M, Asselbergh B, Adriaenssens E, De Winter V, Timmermans JP, Auer-Grumbach M, Juneja M, Timmerman V

Autophagy. 2019 Jan 23:1-18. doi: 10.1080/15548627.2019.1569930.

PubMed OpenAccess

Targeted therapies for congenital myasthenicsyndromes: systematic review and steps towardsa treatabolome.

Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller

Emerging Topics in Life Sciences 2019, https://doi.org/10.1042/ETLS20180100

OpenAccess

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry, David Osumi-Sutherland, Valentina Cipriani, James P Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, Richard Palmer, Dylan Gratian, Hugh Dawkins, Michael Segal, Anna C Jansen, Ahmed Muaz, Willie H Chang, Jenna Bergerson, Stanley J F Laulederkind, Zafer Yüksel, Sergi Beltran, Alexandra F Freeman, Panagiotis I Sergouniotis, Daniel Durkin, Andrea L Storm, Marc Hanauer, Michael Brudno, Susan M Bello, Murat Sincan, Kayli Rageth, Matthew T Wheeler, Renske Oegema, Halima Lourghi, Maria G Della Rocca, Rachel Thompson, Francisco Castellanos, James Priest, Charlotte Cunningham-Rundles, Ayushi Hegde, Ruth C Lovering, Catherine Hajek, Annie Olry, Luigi Notarangelo, Morgan Similuk, Xingmin A Zhang, David Gómez-Andrés, Hanns Lochmüller, Hélène Dollfus, Sergio Rosenzweig, Shruti Marwaha, Ana Rath, Kathleen Sullivan, Cynthia Smith, Joshua D Milner, Dorothée Leroux, Cornelius F Boerkoel, Amy Klion, Melody C Carter, Tudor Groza, Damian Smedley, Melissa A Haendel, Chris Mungall, Peter N Robinson

Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.

OpenAccess

2018

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime and Hanns Lochmüller

Orphanet Journal of Rare Diseases 2018 13:211, doi.org/10.1186/s13023-018-0955-7

OpenAccess

Responsible sharing of biomedical data and biospecimens via the “Automatable Discovery and Access Matrix” (ADA-M).

Woolley JP, Kirby E, Leslie J, Jeanson F, Cabili MN, Rushton G, Hazard JG, Ladas V, Veal CD, Gibson SJ, Tassé AM, Dyke SOM, Gaff C, Thorogood A, Knoppers BM, Wilbanks J, Brookes AJ.

npj Genomic Medicine (2018) 3:17. doi:10.1038/s41525-018-0057-4.

OpenAccess

Improved ontology-based similarity calculations using a study-wise annotation model.

Köhler S.

Database (Oxford). 2018 Jan 1;2018. doi: 10.1093/database/bay026. PMID: 29688377.

PubMed OpenAccess