Scientific publications
A list of publications arising out of or useful for RD-Connect work is provided below. For further details on each publication, click its title.
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage
Author(s): Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, Felice Catania, Guido Cavaletti, Maria Carmela Pera, Antonio Toscano, Giuseppe Vita, Lucia Monaco and Davide Pareyson
Date: October 4, 2018
Journal: Orphanet Journal of Rare Diseases
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Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues
Author(s): Sabina Gainotti, Deborah Mascalzoni, Virginie Bros-Facer, Carlo Petrini, Giovanna Floridia, Marco Roos, Marco Salvatore and Domenica Taruscio
Date: September 21, 2018
Journal: Int. J. Environ. Res. Public Health
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GNE myopathy in the Bedouin population of Kuwait: Genetics, prevalence and clinical description
Author(s): Dr Hadil Alrohaif MBBCh, MD Dr Oksana Pogoryelove MBBS, PhD Dr Abdullah Al‐Ajmi MD Lulwa A Aljeryan PhD Nuwayer H Alrashidi BSc Sara A Alefasi BSc Dr Andoni Urtizberea MD Hanns Lochmüller MD, FAAN Dr Laila Bastaki MD
Date: September 7, 2018
Journal:
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Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil
Author(s): Eduardo de Paula Estephan, Antonio Alberto Zambon, Paulo Eurípedes Marchiori, André Macedo Serafimda Silva, Vitor Marques Caldas, Cristiane Araújo Martins Moreno, Umbertina Conti Reed, Rita Horvath, AnaTöpf, Hanns Lochmüller, Edmar Zanoteli
Date: September 5, 2018
Journal: Neuromuscular Disorders
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Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Author(s): Libby WoodEmail author, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka and Hanns Lochmüller
Date: September 5, 2018
Journal: Orphanet Journal of Rare Diseases
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Recommendations for Improving the Quality of Rare Disease Registries
Author(s): Yllka Kodra,* Jérôme Weinbach, Manuel Posada-de-la-Paz, Alessio Coi, S. Lydie Lemonnier, David van Enckevort, Marco Roos, Annika Jacobsen, Ronald Cornet, S. Faisal Ahmed, Virginie Bros-Facer, Veronica Popa, Marieke Van Meel, Daniel Renault, Rainald von Gizycki, Michele Santoro, Paul Landais, Paola Torreri, Claudio Carta, Deborah Mascalzoni, Sabina Gainotti, Estrella Lopez, Anna Ambrosini, Heimo Müller, Robert Reihs, Fabrizio Bianchi, Yaffa R. Rubinstein, Hanns Lochmüller, Domenica Taruscio
Date: August 3, 2018
Journal: Int J Environ Res Public Health
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Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
Author(s): Sven F. Garbade, Nan Shen, Nastassja Himmelreich, Dorothea Haas, Friedrich K. Trefz, Georg F. Hoffmann, Peter Burgard, Nenad Blau
Date: July 12, 2018
Journal: Genetics in Medicine
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Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model
Author(s): Lodewijk J. A. ToonenView ORCID ID profile, Maurice Overzier, Melvin M. Evers, Leticia G. Leon, Sander A. J. van der Zeeuw, Hailiang Mei, Szymon M. Kielbasa, Jelle J. Goeman, Kristina M. Hettne, Olafur Th. Magnusson, Marion Poirel, Alexandre Seyer, Peter A. C. ‘t Hoen and Willeke M. C. van Roon-Mom
Date: June 22, 2018
Journal: Molecular Neurodegeneration
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GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
Author(s): Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, Rüdiger Rudolf, Joachim Weis 6 , Sally Spendiff 1 , Clarke R. Slater 7 , Andreas Roos 1,2 and Hanns Lochmüller
Date: June 14, 2018
Journal: Human Molecular Genetics
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SpainUDP: The Spanish Undiagnosed Rare Diseases Program
Author(s): Estrella López Martín , Beatriz Martínez-Delgado , Eva Bermejo-Sánchez, Alonso Javier , Manuel Posada
Date: June 13, 2018
Journal: Int. J. Environ. Res. Public Health
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VarAFT: a variant annotation and filtration system for human next generation sequencing data
Author(s): Jean-Pierre Desvignes, Marc Bartoli, Valérie Delague, Martin Krahn, Morgane Miltgen, Christophe Béroud, David Salgado
Date: May 31, 2018
Journal: Nucleic Acids Research
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GNE myopathy: from clinics and genetics to pathology and research strategies
Author(s): Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller and Andreas Roos
Date: May 2, 2018
Journal: Orphanet Journal of Rare Diseases
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Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
Author(s): David Owen, Ana Töpf, Veeramani Preethish‐Kumar, Paulo José Lorenzoni, Bas Vroling, Rosana Herminia Scola, Elza Dias‐Tosta, Argemiro Geraldo, Kiran Polavarapu, Saraswati Nashi, Daniel Cox, Teresinha Evangelista, John Dawson, Rachel Thompson, Jan Senderek, Steven Laurie, Sergi Beltran, Marta Gut, Ivo Gut, Atchayaram Nalini, Hanns Lochmüller
Date: April 28, 2018
Journal: American Journal of Medical Genetics
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MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases
Author(s): Gillian S. Townend Friederike Ehrhart Henk J. van Kranen Mark Wilkinson Annika Jacobsen Marco Roos Egon L. Willighagen David van Enckevort Chris T. Evelo Leopold M. G. Curfs
Date: April 27, 2018
Journal: Human Mutation
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Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies
Author(s): Pietro Spitali, Kristina Hettne, Roula Tsonaka, Mohammed Charrout, Janneke van den Bergen, Zaïda Koeks, Hermien E. Kan, Melissa T. Hooijmans, Andreas Roos, Volker Straub, Francesco Muntoni, Cristina Al‐Khalili‐Szigyarto, Marleen J.A. Koel‐Simmelink, Charlotte E. Teunissen, Hanns Lochmüller, Erik H. Niks, Annemieke Aartsma‐Rus
Date: April 16, 2018
Journal: J Cachexia Sarcopenia Muscle
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Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry
Author(s): M. Tones, M. Cross, C. Simons, K. R. Napier, A. Hunter, M. I. Bellgard, H. Heussler
Date: April 6, 2018
Journal: Journal of Intellectual Disability Research
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Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico
Author(s): Cynthia Fernández-Lainez, Isabel Ibarra-González, Miguel Ángel Alcántara-Ortigoza, Liliana Fernández-Hernández, Sergio Enríquez-Flores, Ariadna González-del Ángel, Nenad Blau, Beat Thöny, Sara Guillén-López, Leticia Belmont-Martínez, Matilde Ruiz-García, Marcela Vela-Amieva
Date: April 1, 2018
Journal: Brain and development
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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
Author(s): Marielle E Van Gijn, Isabella Ceccherini, Yael Shinar, Ellen C Carbo, Mariska Slofstra, Juan I Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyımnı, Banu Balci-Peynircioglu, Hal M Hoffman, Florian Milhavet, Morris A Swertz, Isabelle Touitou
Date: March 29, 2018
Journal: Journal of Medical Genetics
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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
Author(s): Marielle E Van Gijn, Isabella Ceccherini, Yael Shinar, Ellen C Carbo, Mariska Slofstra, Juan I Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyımnı, Banu Balci-Peynircioglu, Hal M Hoffman, Florian Milhavet, Morris A Swertz, Isabelle Touitou
Date: March 29, 2018
Journal: Journal of Medical Genetics
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Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
Author(s): Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller
Date: March 19, 2018
Journal: Neurology Genetics
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RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
Author(s): Hanns Lochmüller & Dorota M. Badowska, Rachel Thompson, Nine V. Knoers, Annemieke Aartsma-Rus, Ivo Gut, Libby Wood, Tina Harmuth, Andre Durudas, Holm Graessner, Franz Schaefer, Olaf Riess, RD-Connect consortium, NeurOmics consortium & EURenOmics consortium
Date: February 27, 2018
Journal: European Journal of Human Genetics
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The Beta-Adrenergic Agonist Salbutamol Modulates Neuromuscular Junction Formation in Zebrafish Models of Human Myasthenic Syndromes
Author(s): Grace McMacken, Dan Cox, Andreas Roos, Juliane Müller, Roger Whittaker, Hanns Lochmüller
Date: February 16, 2018
Journal: Human Molecular Genetics
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Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy
Author(s): Pietro Spitali, Kristina Hettne, Roula Tsonaka, Ekrem Sabir, Alexandre Seyer, Jesse B.A. Hemerik, Jelle J. Goeman, Esther Picillo, Manuela Ergoli, Luisa Politano, Annemieke Aartsma‐Rus
Date: February 14, 2018
Journal: Journal of Cellular and Molecular Medicine
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The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
Author(s): Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, Martin EL, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz, M, Monaco L, Lochmuller H, Taruscio D.
Date: February 2, 2018
Journal: European Journal of Human Genetics
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The New Age of -omics in Urothelial Cancer – Re-wording Its Diagnosis and Treatment
Author(s): Theodora Katsila, Michalis Liontos, George P.Patrinos, Aristotelis Bamias, Dimitrios Kardamakis
Date: February 2, 2018
Journal: EBioMedicine
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A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
Author(s): Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr., Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E
Date: January 30, 2018
Journal: Journal of Neurology
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
Author(s): Bartsakoulia M1, Pyle A1, Troncosco D2, Vial J2, Paz-Fiblas MV2, Duff J1, Griffin H1, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R
Date: January 19, 2018
Journal: Human Molecular Genetics
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Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis
Author(s): Jessica J. Y. Lee, Michael M. Gottlieb, Jake Lever, Steven J. M. Jones, Nenad Blau, Clara D. M. van Karnebeek, Wyeth W. Wasserman
Date: January 16, 2018
Journal: Journal of Inherited Metabolic Disease
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Clinical and research strategies for limb-girdle congenital myasthenic syndromes
Author(s): O'Connor E, Töpf A, Zahedi R, Spendiff S, Cox D, Roos A, Lochmüller H
Date: January 5, 2018
Journal: Annals of the New York Academy of Sciences
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DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias
Author(s): Blau N, Martinez A, Hoffmann GF, Thöny B
Date: January 1, 2018
Journal: Molecular Genetics and Metabolism
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Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
Author(s): Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS
Date: December 7, 2017
Journal: Rare Diseases Epidemiology
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Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease
Author(s): Thompson R, Robertson A, Lochmüller H
Date: December 7, 2017
Journal: Advances in Experimental Medicine and Biology
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COEUS 2.0: An automated platform to integrate and publish biomedical data as nanopublications
Author(s): Sernadela P, Luís Oliveira J
Date: December 4, 2017
Journal: IET Software
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Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne
Author(s): Lourbakos A, Yau N, de Bruijn P, Hiller M, Kozaczynska K, Jean-Baptiste R, Reza M, Wolterbeek R, Koeks Z, Ayoglu B, de Klerk D, Campion G, Zaharieva I, Nadarajah VD, Nilsson P, Al-Khalili Szigyarto C, Muntoni F, Lochmüller H, Verschuuren JJ, Goemans N, Tulinius M, Niks EH, de Kimpe S, Aartsma-Rus A, ’t Hoen PAC, Spitali P
Date: December 1, 2017
Journal: Scientific Reports
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Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long‑term follow‑up of 19 patients
Author(s): McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H
Date: November 30, 2017
Journal: Journal of Neurology
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Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis
Author(s): Badrising UA, Tsonaka R, Hiller M, Niks EH, Evangelista T, Lochmüller H, Verschuuren JJ, Aartsma-Rus A, Spitali P
Date: November 21, 2017
Journal: Journal of Neuromuscular Diseases
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Author(s): Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H
Date: November 21, 2017
Journal: Journal of Neuromuscular Diseases
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Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions
Author(s): Nicole S, Azuma Y, Bauché S, Eymard B, Lochmüller H, Slater C
Date: November 21, 2017
Journal: Journal of Neuromuscular Diseases
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The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact
Author(s): Lochmüller H, Torrent I, Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly
Date: November 20, 2017
Journal: European Journal of Human Genetics
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Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD
Author(s): Zlotogora J, Patrinos GP, Meiner V
Date: November 16, 2017
Journal: Genetics in Medicine
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A semantic-based workflow for biomedical literature annotation
Author(s): Sernadela P, Luís Oliveira J
Date: November 15, 2017
Journal: Database
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BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration
Author(s): Pang C, Kelpin F, van Enckevort D, Eklund N, Silander K, Hendriksen D, de Haan M, Jetten J, de Boer T, Charbon B, Holub P, Hillege H, Swertz MA
Date: November 15, 2017
Journal: Bioinformatics
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Book chapter: Genomic Databases: Emerging Tools for Molecular Diagnostics
Author(s): G.P.Patrinos, T.Katsila, E.Viennas, G.Tzimas
Date: November 4, 2017
Journal: Molecular Diagnostics (Third Edition)
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Book chapter: Pharmacogenomics in Clinical Care and Drug Discovery
Author(s): E.Mendrinou, T.Katsila, F.Innocenti, A.Squassina, G.P.Patrinos
Date: November 4, 2017
Journal: Molecular Diagnostics (Third Edition)
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Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
Author(s): Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada M, Taruscio D, Lochmüller H, Robinson P, Roos M, Luís Oliveira J
Date: October 29, 2017
Journal: BioMed Research International
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Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in beta-type hemoglobinopathy patients
Author(s): Chondrou V, Kolovos P, Sgourou A, Kourakli A, Pavlidaki A, Kastrinou V, John A, Symeonidis A, Ali BR, Papachatzopoulou A, Katsila T, Patrinos GP
Date: October 23, 2017
Journal: Human Genetics
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Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases
Author(s): Roos A, Thompson R, Horvath R, Lochmüller H, Sickmann A
Date: October 23, 2017
Journal: Proteomics: clinical applications
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Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy
Author(s): Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T
Date: October 20, 2017
Journal: Muscle & Nerve
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MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes
Author(s): Harris E, Marini-Bettolo C, Töpf A, Barresi R, Polvikovski T, Bailey G, Charlton R, Tellez J, MacArthur D, Guglieri M, Lochmüller H, Bushby K, Straub V
Date: October 12, 2017
Journal: Neuromuscular Disorders
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DNAJC12 and dopa-responsive nonprogressive parkinsonism
Author(s): Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S
Date: October 11, 2017
Journal: Annals of Neurology
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Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration
Author(s): Bellgard MI, Walker CE, Napier KR, Lamont L, Hunter AA, Render L, Radochonski M, Pang J, Pedrotti A, Sullivan DR, Kostner K, Bishop W, George PM, O'Brien RC, Clifton PM, Bockxmeer FMV, Nicholls SJ, Hamilton-Craig I, Dawkins HJ, Watts GF
Date: October 1, 2017
Journal: Journal of Atherosclerosis and Thrombosis
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Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
Author(s): Shields MC, Bowers MR, Fulcer MM, Bollig MK, Rock PJ, Sutton BR, Vrailas-Mortimer AD, Lochmüller H, Whittaker RG, Horvath R, Reist NE
Date: September 27, 2017
Journal: PLoS One
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How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF)
Author(s): Howard HC, Mascalzoni D, Mabile L, Houeland G, Rial-Sebbag E, Cambon-Thomsen A
Date: September 25, 2017
Journal: Journal of Community Genetics
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Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function
Author(s): Unger A, Beckendorf L, Böhme P, Kley R, von Frieling-Salewsky M, Lochmüller H, Schröder R, Fürst DO, Vorgerd M, Linke WA
Date: September 15, 2017
Journal: Acta Neuropathologica Communications
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Comprehending the Health Informatics Spectrum: Grappling with System Entropy and Advancing Quality Clinical Research
Author(s): Bellgard MI, Chartres N, Watts GF, Wilton S, Fletcher S, Hunter A, Snelling T
Date: September 14, 2017
Journal: Frontiers in Public Health
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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
Author(s): Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnússon Ó, Lek M, MacArthur D, Bushby K, Lochmüller H, Straub V
Date: September 6, 2017
Journal: Orphanet Journal of Rare Diseases
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Molecular characterization of congenital myasthenic syndromes in Spain
Author(s): Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A
Date: August 18, 2017
Journal: Neuromuscular Disorders
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Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective
Author(s): Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, Thomson D, Terry SF, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJS; International Rare Diseases Research Consortium (IRDiRC)
Date: August 10, 2017
Journal: Clinical and Translational Science
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Progress in rare diseases research 2010-2016: an IRDiRC perspective
Author(s): Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Le Cam Y, Hivert V, Austin CP; International Rare Diseases Research Consortium (IRDiRC)
Date: August 10, 2017
Journal: Clinical and Translational Science
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Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
Author(s): van Spronsen FJ, Himmelreich N, Rüfenacht V, Shen N, Vliet DV, Al-Owain M, Ramzan K, Alkhalifi SM, Lunsing RJ, Heiner-Fokkema RM, Rassi A, Gemperle-Britschgi C, Hoffmann GF, Blau N, Thöny B
Date: August 9, 2017
Journal: Journal of Medical Genetics
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Exploring public genomics data for population pharmacogenomics
Author(s): Lakiotaki K, Kanterakis A, Kartsaki E, Katsila T, Patrinos GP, Potamias G
Date: August 3, 2017
Journal: PLoS One
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A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
Author(s): Napier KR, Tones M, Simons C, Heussler H, Hunter AA, Cross M, Bellgard MI
Date: August 1, 2017
Journal: Orphanet Journal of Rare Diseases
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Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
Author(s): Lee JJY, Wasserman WW, Hoffmann GF, van Karnebeek CDM, Blau N
Date: July 20, 2017
Journal: Genetics in Medicine
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Application of the DruGeVar Database in Cancer Genomics and Pharmacogenomics
Author(s): Sarris K, Komianou A, Patrinos GP, Katsila T
Date: July 14, 2017
Journal: Public Health Genomics
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MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide
Author(s): Reza M, Cox D, Phillips L, Johnson D, Manoharan V, Grieves M, Davis B, Roos A, Morgan J, Hanna MG, Muntoni F, Lochmüller H
Date: July 10, 2017
Journal: Neuromuscular Disorders
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A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy
Author(s): Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V
Date: June 22, 2017
Journal: Neuromuscular Disorders
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Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy
Author(s): Moreira S, Wood L, Smith D, Marini-Bettolo C, Guglieri M, McMacken G, Bailey G, Mayhew A, Muni-Lofra R, Eglon G, Williams M, Straub V, Lochmüller H, Evangelista T
Date: May 26, 2017
Journal: Journal of Neurology
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Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency
Author(s): Nardecchia F, Chiarotti F, Carducci C, Santagata S, Valentini G, Angeloni A, Blau N, Leuzzi V
Date: May 24, 2017
Journal: European Journal of Pediatrics
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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Author(s): Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H
Date: May 4, 2017
Journal: American Journal of Human Genetics
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Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
Author(s): Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R
Date: May 4, 2017
Journal: Neuromuscular Disorders
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Biobanking: towards increased access of biomaterials in cystic fibrosis. Report on the pre-conference meeting to the 13th ECFS Basic Science Conference, Pisa, 30 March-2 April, 2016
Author(s): Beekman JM, Wang CM, Casati S, Tuggle KL, Gulmans VAM, Amaral M, De Boeck K
Date: May 3, 2017
Journal: Journal of Cystic Fibrosis 2017 May 3. pii: S1569-1993(17)30105-4
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Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
Author(s): Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Hanns Lochmüller H
Date: May 3, 2017
Journal: Neurology Genetics
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Interoperability and FAIRness through a novel combination of Web technologies
Author(s): Wilkinson MD, Verborgh R, da Silva Santos LOB, Clark T, Swertz M, Kelpin FDL, Gray AJG, Schultes EA, van Mulligen EM, Ciccarese P, Kuzniar A, Gavai A, Thompson M, Kaliyaperumal R, Bolleman JT, Dumontier M
Date: April 24, 2017
Journal: PeerJ Computer Science
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The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research
Author(s): Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmüller H
Date: April 10, 2017
Journal: Journal of Neurology
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3-Dimensional Facial Analysis—Facing Precision Public Health
Author(s): Baynam G, Bauskis A, Pachter N, Schofield L, Verhoef H, Palmer RL, Kung S, Helmholz P, Ridout M, Walker CE, Hawkins A, Goldblatt J, Weeramanthri TS, Dawkins HJS, Molster CM
Date: April 10, 2017
Journal: Frontiers in Public Health
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The Israeli National Genetic database: a 10-year experience
Author(s): Zlotogora J, Patrinos GP
Date: March 16, 2017
Journal: Human Genomics
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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Author(s): Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J
Date: March 2, 2017
Journal: American Journal of Human Genetics
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Genetic heterogeneity of motor neuropathies
Author(s): Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R
Date: March 1, 2017
Journal: Neurology
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Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1
Author(s): Jung-Klawitter S, Ebersold J, Göhring G, Blau N, Opladen T
Date: February 24, 2017
Journal: Stem Cell Research
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Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments
Author(s): Molster CM, Lister K, Metternick-Jones S, Baynam G, Clarke AJ, Straub V, Dawkins HJ, Laing N
Date: February 24, 2017
Journal: Frontiers in Public Health
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SCALEUS: Semantic Web Services Integration for Biomedical Applications
Author(s): Sernadela P, González-Castro L, Oliveira JL
Date: February 18, 2017
Journal: Journal of Medical Systems
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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Author(s): Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thony B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K,19 Hartmut Engels,19 David Meili,9 Irene Keller,20,21 Re´my Bruggmann, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Wade Harper J, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M
Date: February 1, 2017
Journal: American Journal of Human Genetics
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Dynamic Consent: a potential solution to some of the challenges of modern biomedical research
Author(s): Budin-Ljøsne I1,2, Teare HJ3, Kaye J3, Beck S4, Bentzen HB5,6,7, Caenazzo L8, Collett C9, D'Abramo F10, Felzmann H11, Finlay T3, Javaid MK12, Jones E4, Katić V13, Simpson A14, Mascalzoni D15,16.
Date: January 25, 2017
Journal: BMC Medical Ethics
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Reduced serum myostatin concentrations associated with genetic muscle disease progression
Author(s): Burch PM, Pogoryelova O2, Palandra J3, Goldstein R4, Bennett D5, Fitz L5, Guglieri M2, Bettolo CM2, Straub V2, Evangelista T2, Neubert H3, Lochmüller H2, Morris C5,6.
Date: January 10, 2017
Journal: Journal of Neurology
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Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
Author(s): Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M
Date: January 1, 2017
Journal: Brain
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MASTR-MS: a web-based collaborative laboratory information management system (LIMS) for metabolomics
Author(s): Hunter A, Dayalan S, De Souza D, Power B, Lorrimar R, Szabo T, Nguyen T, O'Callaghan S, Hack J, Pyke J, Nahid A, Barrero R, Roessner U, Likic V, Tull D, Bacic A, McConville M, Bellgard M
Date: December 27, 2016
Journal: Metabolomics
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A Web-Based Registry for Familial Hypercholesterolaemia
Author(s): Napier KR, Pang J, Lamont L, Walker CE, Dawkins HJ, Hunter AA, Bockxmeer FM, Watts GF, Bellgard MI.
Date: November 30, 2016
Journal: Heart Lung and Circulation
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Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study
Author(s): West SD, Lochmuller H, Hughes J, Atalaia A, Marini-Bettolob C, Baudouin SV, Anderson KN
Date: November 29, 2016
Journal: Journal of Neuromuscular Disorders 3(4):529-537
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The Human Phenotype Ontology in 2017
Author(s): Kohler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Ayme S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jahn JA, James R, Krause R, Laulederkind SJ, Lochmuller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Zuchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN
Date: November 28, 2016
Journal: Nucleic Acids Research 45(D1):D865-D876
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Association Study of Exon Variants in the NF-kB and TGFb Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Author(s): Bello L, Flanigan KM, Weiss RB, United Dystrophinopathy Project, Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, Straub V, Lochmuller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald CM, Hoffman EP, Cooperative International Neuromuscular ResearchGroup
Date: November 3, 2016
Journal: American Journal of Human Genetics 99, 1–9, November 3, 2016
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Translational development of splice-modifying antisense oligomers
Author(s): Fletcher S, Bellgard MI, Price L, Akkari AP, Wilton SD
Date: November 2, 2016
Journal: Expert Opinion on Biological Therapy 17(1)15-30
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Correlation of SIN3A genomic variants with beta-hemoglobinopathies disease severity and hydroxyurea treatment efficacy
Author(s): Gravia A, Chondrou V, Kolliopoulou A, Kourakli A, John A, Symeonidis A, Ali BR, Sgourou A, Papachatzopoulou A, Katsila T, Patrinos GP
Date: November 1, 2016
Journal: Pharmacogenomics 17(16):1785-93
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CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model
Author(s): Pan Y, Shen N, Jung-Klawitter S, Betzen C, Hoffmann GF, Hoheisel JD, Blau N
Date: October 27, 2016
Journal: Scientific Reports
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Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.
Author(s): Jung-Klawitter S, Blau N, Sebe A, Ebersold J, Gohring G, Opladen T
Date: October 26, 2016
Journal: Stem Cell Research 17(3):580-583
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Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
Author(s): Viennas E, Komianou A, Mizzi C, Stojiljkovic M, Mitropoulou C, Muilu J, Vihinen M, Grypioti P, Papadaki S, Pavlidis C, Zukic B, Katsila T, van der Spek PJ, Pavlovic S, Tzimas G, Patrinos GP
Date: October 18, 2016
Journal: Nucleic Acids Research 45(D1):D846-D853
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WES/WGS Reporting of Mutations from Cardiovascular “Actionable” Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases
Author(s): Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Beroud C, Collod-Beroud G
Date: October 10, 2016
Journal: Human Mutation 37(12):1308-1317
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How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era
Author(s): Salgado D, Bellgard MI, Desvignes JP, Beroud C
Date: September 26, 2016
Journal: Human Mutation 37(12):1272-1282
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Actionable Genes, Core Databases, and Locus-Specific Databases
Author(s): Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barre L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Beroud C, Collod-Beroud G
Date: September 26, 2016
Journal: Human Mutation 37(12):1299-1307
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A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
Author(s): Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Basak N, Bohm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kadasi L, Kucinskas V, Khusnutdinova E, Loukas YL, Macek M, Jr., Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Setric J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP
Date: September 16, 2016
Journal: PLoS One 11(9):e0162866
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From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing
Author(s): Laurie S, Fernandez-Callejo M, Marco-Sola S, Trotta JR, Camps J, Chacon A, Espinosa A, Gut M, Gut I, Heath S, Beltran S
Date: September 15, 2016
Journal: Human Mutation 11(9):e0162801
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ePGA: A Web-Based Information System for Translational Pharmacogenomics
Author(s): Lakiotaki K, Kartsaki E, Kanterakis A, Katsila T, Patrinos GP, Potamias G.
Date: September 15, 2016
Journal: PLoS One 11(9):e0162801
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In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU
Author(s): Trunzo R, Santacroce R, Shen N, Jung-Klawitter S, Leccese A, De Girolamo G, Margaglione M, Blau N
Date: September 9, 2016
Journal: Gene ep 9. pii: S0378-1119(16)30731-4
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Author(s): Bauche S, O’Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Nassima Bouzidi N, Topf A, Lacene E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Magdalena Burloiu C, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Boeuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S
Date: September 1, 2016
Journal: American Journal of Human Genetics
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Big Data Governance: Solidarity and the Patient Voice
Author(s): Woods, S
Date: August 4, 2016
Journal: The Ethics of Biomedical Big Data 29:221-238
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Common disease signatures from gene expression analysis in Huntington’s disease human blood and brain
Author(s): Mina E, van Roon-Mom W, Hettne K, van Zwet E, Goeman J, Neri C, ’t Hoen PAC, Mons B, Roos M
Date: August 1, 2016
Journal: Orphanet Journal of Rare Diseases 11(1):97
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Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington’s disease peripheral blood samples
Author(s): Mastrokolias A, Pool R, Mina E, Hettne KM, van Duijn E, van der Mast RC, van Ommen GJ, ‘t Hoen PAC, Prehn C, Adamski J, van Roon-Mom W
Date: July 27, 2016
Journal: Metabolomics (2016) 12:137
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MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks
Author(s): Pang C, van Enckevort D, de Haan M Kelpin F, Jetten J, Hendriksen D, de Boer T, Charbon B, Winder E, van der Velde KJ, Doiron D, Fortier I, Hillege H, Swertz MA
Date: July 15, 2016
Journal: Bioinformatics 15;32(14):2176-83
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CARGO: effective format-free compressed storage of genomic information
Author(s): Roguski L, Ribeca P
Date: July 8, 2016
Journal: Nucleic Acids Research 44(12):e114
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A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
Author(s): Vissing J,Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindof LA, Straub V, Lochmuller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M
Date: June 3, 2016
Journal: Brain
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Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
Author(s): O’Connor E, Topf A, Muller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmuller H
Date: June 3, 2016
Journal: Brain
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Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?
Author(s): Budin-Ljøsne I, Mascalzoni D, Soini S, Machado H, Kaye J, Bentzen HB, Rial-Sebbag E, D'Abramo F, Witt M, Schamps G, Katić V, Krajnovic D, Harris JR
Date: June 1, 2016
Journal: Biopreservation and Biobanking
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The risk of re-identification versus the need to identify individuals in rare disease research
Author(s): Hansson MG, Lochmüller H, Riess O, Schaefer F, Orth M, Rubinstein Y, Molster C, Hugh Dawkins, Taruscio D, Posada M, Woods S
Date: May 25, 2016
Journal: European Journal of Human Genetics
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Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide
Author(s): Lopez E, Thompson R, Gainotti S, Wang CM, Rubinstein Y, Taruscio D, Monaco L, Lochmuller H, Alonso V, Posada de la Paz M
Date: May 9, 2016
Journal: Expert Opinion on Orphan Drugs
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Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry
Author(s): Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H
Date: May 9, 2016
Journal: Journal of Neurology
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Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy
Author(s): Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A
Date: April 15, 2016
Journal: Journal of Cell Science
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‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research
Author(s): McCormack P, Kole A, Gainotti S, Mascalzoni D, Molster C, Lochmuller L, Woods S
Date: April 6, 2016
Journal: European Journal of Human Genetics
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Limb-girdle muscular dystrophies – international collaborations for translational research
Author(s): Thompson R, Straub V
Date: April 1, 2016
Journal: Nat Rev Neurol. 2016 Apr 1
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The Quality of Rare Disease Registries: Evaluation and Characterization
Author(s): Coi A, Santoro M, Villaverde-Hueso A, Lipucci Di Paola M, Gainotti S, Taruscio D, Posada de la Paz M, Bianchi F
Date: March 22, 2016
Journal: Public Health Genomics 19(2):108-15
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KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
Author(s): Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H
Date: March 1, 2016
Journal: Journal of Neurology 263(3):517-23
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Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients
Author(s): Oonk S, Spitali P, Hiller M, Switzar L, Dalebout H, Calissano M, Lochmüller H, Aartsma-Rus A, 't Hoen PA, van der Burgt YE
Date: March 1, 2016
Journal: Proteomics - Clinical Applications 2016 Mar;10(3):290-9
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A knowledge federation architecture for rare disease patient registries and biobanks
Author(s): Sernadela P, Lopes P, Oliveira J
Date: March 1, 2016
Journal: Journal of Information Systems Engineering & Management
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Genetics of Phenylketonuria: Then and Now
Author(s): Blau N
Date: February 26, 2016
Journal: Human Mutation
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The Implicitome: A Resource for Rationalizing Gene-Disease Associations
Author(s): Hettne KM, Thompson M, van Haagen HH, van der Horst E, Kaliyaperumal R, Mina E, Tatum Z, Laros JF, van Mulligen EM, Schuemie M, Aten E, Li TS, Bruskiewich R, Good BM, Su AI, Kors JA, den Dunnen J, van Ommen GJ, Roos M, 't Hoen PA, Mons B, Schultes EA
Date: February 26, 2016
Journal: PLoS One
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Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/beta-thalassemia patients
Author(s): Chalikiopoulou C, Tavianatou AG, Sgourou A, Kourakli A, Kelepouri D, Chrysanthakopoulou M, Kanelaki VK, Mourdoukoutas E, Siamoglou S, John A, Symeonidis A, Ali BR, Katsila T, Papachatzopoulou A, Patrinos GP
Date: February 19, 2016
Journal: Pharmacogenomics 17(4):393-403
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Improving the informed consent process in international collaborative rare disease research: effective consent for effective research
Author(s): Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D
Date: February 10, 2016
Journal: Eur J Hum Genet
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UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution
Author(s): Salgado D, Desvignes JP, Rai G, Blanchard A, Miltgen M, Pinard A, Lévy N, Collod-Béroud G, Béroud C
Date: February 4, 2016
Journal: Human Mutation 37(5):439-46
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Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
Author(s): Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A
Date: February 1, 2016
Journal: Neuromuscular Disorders 26(2):153-9
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Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy
Author(s): Meng J, Counsell JR, Reza M, Laval SH, Danos O, Thrasher A, Lochmüller H, Muntoni F, Morgan JE
Date: January 27, 2016
Journal: Scientific Reports 6:19750
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Consent Codes: Upholding Standard Data Use Conditions
Author(s): Dyke SO, Philippakis AA, Rambla De Argila J, Paltoo DN, Luetkemeier ES, Knoppers BM, Brookes AJ, Spalding JD, Thompson M, Roos M, Boycott KM, Brudno M, Hurles, Rehm HL, Matern A, Fiume M, Sherry ST
Date: January 21, 2016
Journal: PLos Genetics 12(1):e1005772
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Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease
Author(s): Khan MM, Lustrino D, Silveira WA, Wild F, Straka T, Issop Y, O'Connor E, Cox D, Reischl M, Marquardt T, Labeit D, Labeit S, Benoit E, Molgó J, Lochmüller H, Witzemann V, Kettelhut IC, Navegantes LC, Pozzan T, Rudolf R
Date: January 19, 2016
Journal: PNAS 113(3):746-50
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Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
Author(s): Shen N, Heintz C, Thiel C, Okun JG, Hoffmann GF, Blau N
Date: January 12, 2016
Journal: Molecular Genetics and Metabolism
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Functional Analysis of an A γ-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress
Author(s): Ugrin M, Stojiljkovic M, Zukic B, Klaassen K, Katsila T, Vasiljevic J, Dokmanovic L, Janic D, Patrinos GP, Pavlovic S
Date: January 2, 2016
Journal: Hemoglobin 40(1):48-52.
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Chemical entity recognition in patents by combining dictionary-based and statistical approaches
Author(s): Akhondi SA, Pons E, Afzal Z, van Haagen H, Becker BFH, Hettne KM, van Mulligen EM, Kors JA
Date: January 1, 2016
Journal: Database 2016:baw061
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Identification of novel, therapy responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamerbased serum proteomics
Author(s): Coenen-Stass AM, McClorey G, Manzano R, Betts CA, Blain A, Saleh AF, Gait MJ, Lochmüller H, Wood MJ, Roberts TC
Date: November 23, 2015
Journal: Scientific Reports 2015 Nov 23;5:17014
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Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia
Author(s): Daoud H, Papadima EM, Ouled Amar Bencheikh B, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA
Date: November 1, 2015
Journal: European Journal of Medical Genetics 2015 Nov;58(11):573-7
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Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
Author(s): Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H
Date: October 30, 2015
Journal: Neurology (epub ahead of print)
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Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
Author(s): Chen Q, Muller JS, Pang P, Laval SH, Haslam SM, Lochmuller H, Dell A
Date: October 16, 2015
Journal: Biomolecules 5(4): 2758-2781
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An automated real-time integration and interoperability framework for bioinformatics
Author(s): Lopes P, Oliveira JL
Date: October 13, 2015
Journal: BMC Bioinformatics 2015 Oct 13;16:328
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Challenges and Opportunities for Exploring Patient-Level Data
Author(s): Lopes P, Silva LB, Oliveira JL
Date: October 4, 2015
Journal: Biomed Research International
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Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
Author(s): Jacobi H, Tezenas du Montcel S, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A & Klockgether T
Date: September 13, 2015
Journal: The Lancet, Neurology
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Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy
Author(s): Burch PM, Pogoryelova O, Goldstein R, Bennett D, Guglieri M, Straub V, Bushby K, Lochmuller H, Morris C
Date: September 2, 2015
Journal: Journal of Neuromuscular Diseases 2 (3):241-255
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Meta-Analysis of Genes in Commercially Available Nutrigenomic Tests Denotes Lack of Association with Dietary Intake and Nutrient-Related Pathologies
Author(s): Pavlidis C, Lanara Z, Balasopoulou A, Nebel JC, Katsila T, Patrinos GP
Date: September 1, 2015
Journal: OMICS 19(9):512-20
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Genetic, environmental, and epigenetic factors involved in CAKUT.
Author(s): Nicolaou N, Renkema KY, Bongers EM, Giles RH & Knoers NV
Date: August 18, 2015
Journal: Nature Reviews Nephrology
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Multidisciplinary collaboration to facilitate hypotheses generation in Huntington’s Disease
Author(s): Mina E, Thompson M, Hettne KM, van Roon-Mom W, Kaliyaperumal R, van der Horst E, Wolstencroft K, Mons B, Roos M
Date: August 1, 2015
Journal: 2015 IEEE 11th International Conference on e-Science
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Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness
Author(s): Evangelista T, Hanna M, Lochmüller H
Date: July 31, 2015
Journal: Journal of Neuromuscular Diseases
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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
Author(s): Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D.
Date: July 30, 2015
Journal: Brain
The implications of metabotypes for rationalizing therapeutics in infants and children
Author(s): Katsila T and Patrinos GP
Date: July 29, 2015
Journal: Frontiers in Pediatrics
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Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies
Author(s): Bushby K
Date: July 22, 2015
Journal: Journal of Neuromuscular Diseases
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GNE myopathy in Roma patients homozygous for the p.I618T founder mutation
Author(s): Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V,Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I
Date: July 13, 2015
Journal: Neuromuscular Disorders
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From Peer-Reviewed to Peer-Reproduced in Scholarly Publishing: The Complementary Roles of Data Models and Workflows in Bioinformatics
Author(s): Gonzalez-Beltran A, Li P, Zhao J, Avila-Garcia MS, Roos M, Thompson M, van der Horst E, Kaliyaperumal R, Luo R, Lee TL, Lam TW, Edmunds SC, Sansone SA, Rocca-Serra P
Date: July 8, 2015
Journal: PLoS One 10(7):e0127612
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The European Genome-phenome Archive of human data consented for biomedical research
Author(s): Lappalainen I, Almeida-King J, Kumanduri V, Senf A, Spalding JD, Ur-Rehman S, Saunders G, Kandasamy J, Caccamo M, Leinonen R, Vaughan B, Laurent T, Rowland F, Marin-Garcia P, Barker J1, Jokinen P, Torres AC, de Argila JR, Llobet OM, Medina I, Puy MS, Alberich M, de la Torre S, Navarro A, Paschall J and Flicek P
Date: June 26, 2015
Journal: Nature Genetics
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Phenotypic variability of TRPV4 related neuropathies
Author(s): Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R.
Date: June 25, 2015
Journal: Neuromuscular Disorders
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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
Author(s): Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H & Evangelista T
Date: June 23, 2015
Journal: Journal of Neurology, Neurosurgery & Psychiatry
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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach
Author(s): Karageorgos I, Mizzi C, Giannopoulou E, Pavlidis C, Peters BA, Zagoriti Z, Stenson PD, Mitropoulos K, Borg J, Kalofonos HP, Drmanac R, Stubbs A, van der Spek P, Cooper DN, Katsila T, Patrinos GP
Date: June 20, 2015
Journal: Human Genetics 2015 Jun 20;9:12
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Towards a knowledge federation of linked patient registries
Author(s): Lopes P, Sernadela P, Oliveira JL
Date: June 20, 2015
Journal: Proceedings of the 2015 10th Iberian Conference on Information Systems and Technologies (Cisti 2015)
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DISim: Ontology-driven simulation of biomedical data integration tasks
Author(s): Sernadela P, Pereira A, Rossetti R
Date: June 20, 2015
Journal: Proceedings of the 2015 10th Iberian Conference on Information Systems and Technologies (Cisti 2015)
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Recessive Mutations in the α3(VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia.
Author(s): Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J
Date: June 4, 2015
Journal: The American Journal of Human Genetics
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Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland
Author(s): Bansagi B, Antoniadi T, Burton-Jones S, Murphy SM, McHugh J, Alexander M, Wells R, Davies J, Hilton-Jones D, Lochmüller H, Chinnery P & Horvath R
Date: June 2, 2015
Journal: Journal of Neurology
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Integration-as-a-service for bioinformatics
Author(s): Lopes P, Oliveira JL
Date: June 1, 2015
Journal: Proceedings of the 2015 10th Iberian Conference on Information Systems and Technologies (Cisti 2015)
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An alignment-free method to find and visualise rearrangements between pairs of DNA sequences
Author(s): Pratas D, Silva RM, Pinho AJ, Ferreira PJSG
Date: May 18, 2015
Journal: Scientific Reports 5(10203)
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Freedom of Choice About Incidental Findings Can Frustrate Participants’ True Preferences
Author(s): Viberg J, Segerdahl P, Langenskiöld S, Hansson MG
Date: April 23, 2015
Journal: Bioethics 2015 Apr 23(epub ahead of print)
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A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
Author(s): Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J
Date: April 6, 2015
Journal: American Journal of Medical Genetics
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Three minimal sequences found in Ebola virus genomes and absent from human DNA
Author(s): Silva RM, Pratas D, Castro L, Pinho AJ, Ferreira PJ
Date: April 2, 2015
Journal: Bioinformatics 31(15):2421-5
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Whole genome sequencing in pharmacogenomics
Author(s): Katsila T, Patrinos G
Date: March 25, 2015
Journal: Frontiers in Pharmacology
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The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect
Author(s): Monaco L, Crimi M, Wang CM
Date: March 24, 2015
Journal: Pathobiology
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A 3′-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome
Author(s): Dusl M, Senderek J, Müller JS, Vogel JG, Pertl A, Stucka R, Lochmüller H, David R, Abicht A
Date: March 12, 2015
Journal: Human Molecular Genetics
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Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria
Author(s): Wettstein S, Underhaug J, Perez B, Marsden BD, Yue WW, Martinez A & Blau N
Date: February 27, 2015
Journal: European Journal of Human Genetics 23, 302-309
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Nanopublications for exposing experimental data in the life-sciences: a Huntington’s Disease case study
Author(s): Mina E, Thompson M, Kaliyaperumal R, Zhao J, der Horst v E, Tatum Z, Hettne KM, Schultes EA, Mons B, Roos M.
Date: February 9, 2015
Journal: Journal of Biomedical Sciences 6:5
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The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations
Author(s): Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Milic Rasic V, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Ayşe Karaduman A, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Beroud C, Lochmüller H
Date: January 21, 2015
Journal: Human Mutation
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Gateways to the FANTOM5 promoter level mammalian expression atlas
Author(s): Lizio M, Harshbarger J, Shimoji H, Severin J, Kasukawa T, Sahin S, Abugessaisa I, Fukuda S, Hori F, Ishikawa-Kato S, Mungall CJ, Arner E, Baillie JK, Bertin N, Bono H, de Hoon M, Diehl AD, Dimont E, Freeman TC, Fujieda K, Hide W, Kaliyaperumal R, Katayama T, Lassmann T, Meehan TF, Nishikata K, Ono H, Rehli M, Sandelin A, Schultes EA, 't Hoen PA, Tatum Z, Thompson M, Toyoda T, Wright DW, Daub CO, Itoh M, Carninci P, Hayashizaki Y, Forrest AR, Kawaji H; FANTOM consortium.
Date: January 5, 2015
Journal: Genome Biology
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A Semantic Layer for Unifying and Exploring Biomedical Document Curation Results
Author(s): Sernadela P, Lopes P, Campos D, Matos S, Oliveira JL
Date: January 1, 2015
Journal: Bioinformatics and Biomedical Engineering 9043:8
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An Event-Driven Architecture for Biomedical Data Integration and Interoperability
Author(s): Lopes P, Oliveira JL
Date: January 1, 2015
Journal: Bioinformatics and Biomedical Engineering 9044:165
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RecRWR: a recursive random walk method for improved identification of diseases
Author(s): Arrais JP, Oliveira JL
Date: January 1, 2015
Journal: Biomed Research International
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Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora
Author(s): Groza T, Kohler S, Doelken S, Collier N, Oellrich A, Smedley D, Couto FM, Baynam G, Zankl A, Robinson PN
Date: January 1, 2015
Journal: Database
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204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands
Author(s): Ferlini A, Flanigan KM, Lochmuller H, Muntoni F, ‘t Hoen P A.C & McNally E
Date: December 18, 2014
Journal: Neuromuscular Disorders
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The EuroBioBank Network: Ten years of hands-on experience of collaborative, transnational biobanking for rare diseases
Author(s): Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcag V,LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, Posada de la Paz M, Saker S, Schneiderat P, Ensini M,Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H
Date: December 4, 2014
Journal: European Journal of Human Genetics, 23, 1116–1123
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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
Author(s): van den Bergen JC, Hiller M, Böhringer S,Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F,Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren J J G M, ’t Hoen PAC, Spitali P
Date: December 4, 2014
Journal: Journal of Neurology, Neurosurgery and Psychiatry
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Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes
Author(s): Bellgard MI, Sleeman MW, Guerrero FD, Fletcher S, Baynam G, Goldblatt J, Rubinstein Y, Bell C, Groft S, Barrero R, Bittles AH, Wilton SD, Mason CE, Weeramanthri T
Date: December 1, 2014
Journal: Health Policy and Technology 3(4):325-35
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Current trends in biobanking for rare diseases: a review
Author(s): Graham CE, Molster C, Baynam GS, Bushby K, Hansson M, Kole A, Mora M, Monaco L, Bellgard M, Carpentieri D, Posada M, Riess O, Rubinstein YR, Schaefer F, Taruscio D, Terry SF, Zatloukal K, Knoppers B, Lochmüller H, Dawkins HJS
Date: November 21, 2014
Journal: Journal of Biorepository Science for Applied Medicine
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BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres
Author(s): van Ommen GJ, Törnwall O, Bréchot C, Dagher G, Galli J, Hveem K, Landegren U, Luchinat C, Metspalu A, Nilsson C, Solesvik OV, Perola M, Litton JE, Zatloukal K.
Date: November 19, 2014
Journal: European Journal of Human Genetics
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The impact of integrated omics technologies for patients with rare diseases
Author(s): Johnston L, Thompson R, Turner C, Bushby K, Lochmüller H, Straub V
Date: October 30, 2014
Journal: Expert Opinion on Orphan Drugs
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Long-term follow-up in patients with CCFDN syndrome
Author(s): Walter MC, Bernert G, Zimmermann U, Mullner-Eidenbock A, Moser E, Kalaydjieva L, Lochmuller H, Muller-Felber W
Date: October 7, 2014
Journal: Neurology 83(15):1337-44
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International Charter of principles for sharing bio-specimens and data
Author(s): Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJS, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M
Date: September 25, 2014
Journal: European Journal of Human Genetics (2014) 1–8
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National registries of rare diseases in Europe: an overview of the current situation and experiences
Author(s): Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E, Van Oyen H.
Date: September 9, 2014
Journal: Public Health Genomics
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Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy
Author(s): Herrmann DN, Horvath R, Sowden JE, Gonzales M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S
Date: September 4, 2014
Journal: The American Journal of Human Genetics 95, 332–339
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ANO10 mutations cause ataxia and coenzyme Q10 deficiency
Author(s): Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmuller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R
Date: August 19, 2014
Journal: The Journal of Neurology
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Explain your data by Concept Profile Analysis Web Services
Author(s): Hettne KM, van Schouwen R, Mina E, van der Horst E, Thompson M, Kaliyaperuma R, Mons B, van Mulligen E, Kors JA, Roos M
Date: July 25, 2014
Journal: F1000 Research 3:173
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RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Author(s): Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, Robinson PN, Bushby K, Lochmüller H.
Date: July 17, 2014
Journal: J Gen Intern Med. 2014 Aug;29 Suppl 3:S780-7
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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
Author(s): Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J,Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott D, Chinnery P, Edvardson S, Horvath R
Date: July 3, 2014
Journal: Nature Communications 5:4287
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Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Author(s): Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C
Date: July 1, 2014
Journal: Human Mutation 35(7): 779-90
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Molecular genetics and diagnosis of phenylketonuria: state of the art
Author(s): Blau N, Shen N, Carducci C
Date: July 1, 2014
Journal: Expert Review of Molecular Diagnostics 14(6):655-71
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Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission
Author(s): Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Muller JS, Evangelista T, Topf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L ,Lochmuller H
Date: June 24, 2014
Journal: Journal of Neuromuscular Diseases
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Second Generation Registry Framework
Author(s): Bellgard M, Render L, Radochonski M, Hunter A
Date: June 20, 2014
Journal: Source Code for Biology and Medicine
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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
Author(s): Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H
Date: June 20, 2014
Journal: Brain 2014
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Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.
Author(s): Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Pontén F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlén M, Cirak S, 't Hoen PA, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Al-Khalili Szigyarto C.
Date: June 11, 2014
Journal: EMBO Molecular Medicine
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A Nanopublishing Architecture for Biomedical Data
Author(s): Sernadela P, van der Horst E, Thompson M, Lopes P, Roos M, Oliveira JL
Date: June 1, 2014
Journal: 8th International Conference on Practical Applications of Computational Biology & Bioinformatics (Pacbb 2014) 294:277-84
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Genetics and global healthcare
Author(s): Bittles, AH
Date: May 28, 2014
Journal: The journal of the Royal College of Physicians of Edinburgh
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Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy
Author(s): Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V
Date: May 1, 2014
Journal: Human Molecular Genetics 1;23(9):2353-63
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Rare disease research: Breaking the privacy barrier
Author(s): Mascalzoni D, Paradiso A, Hansson M
Date: April 18, 2014
Journal: Applied & Translational Genomics 3(2):23-9.
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The current situation and needs of rare disease registries in europe
Author(s): Taruscio D, Gainotti S, Mollo E, Vittozzi L, Bianchi F, Ensini M, Posada M
Date: February 3, 2014
Journal: Public Health Genomics 16(6):288-98
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A model for the European platform for rare disease registries
Author(s): Vittozzi L, Gainotti S, Mollo E, Donati C, Taruscio D
Date: February 3, 2014
Journal: Public Health Genomics 16(6):299-304
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Fibronectin is a serum biomarker for Duchenne muscular dystrophy
Author(s): Martin FC, Hiller M, Spitali P, Oonk S, Dalebout H, Palmblad M, Chaouch A, Guglieri M, Straub V, Lochmüller H, Niks EH, Verschuuren JJ, Aartsma-Rus A, Deelder AM, van der Burgt YE, 't Hoen PA
Date: January 23, 2014
Journal: Proteomics - Clinical Applications
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Author(s): Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, Fitzpatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Vooren SV, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, Leeuw Nd, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN
Date: January 1, 2014
Journal: Nucleic Acids Res. 2014 Jan 1;42(1):D966-74
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Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
Author(s): Papadopoulos P, Viennas E, Gkantouna V, Pavlidis C, Bartsakoulia M, Ioannou ZM, Ratbi I, Sefiani A, Tsaknakis J, Poulas K, Tzimas G, Patrinos GP
Date: January 1, 2014
Journal: Nucleic Acids Research 1;42(1):D1020-6
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Preserving sequence annotations across reference sequences
Author(s): Tatum Z, Roos M, Gibson AP, Taschner PE, Thompson M, Schultes EA, Laros JF
Date: January 1, 2014
Journal: Journal of Biomedical Semantics 5(Suppl 1 Proceedings of the Bio-Ontologies Spec Interest G):S6
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Setting up strategies: patient inclusion in biobank and genomics research in Europe
Author(s): McCormack P, Kole A
Date: January 1, 2014
Journal: Orphanet Journal of Rare Diseases
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An innovative portal for rare genetic diseases research: The semantic Diseasecard
Author(s): Lopes P, Oliveira JL.
Date: December 1, 2013
Journal: Journal of Biomedical Informatics 46(6):1108-15
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The New Zealand Neuromuscular Disease Registry
Author(s): Rodrigues M, Hammond-Tooke G, Kidd A, Love D, Patel R, Dawkins H, Bellgard M, Roxburgh R
Date: December 1, 2013
Journal: Journal of Clinical Neuroscience 19(12):1749-50
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Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meeting
Author(s): Ellard S, Patrinos GP, Oetting WS
Date: November 1, 2013
Journal: Human Mutation 34(11):1583-7
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Dispelling myths about rare disease registry system development
Author(s): Bellgard M, Beroud C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A
Date: October 1, 2013
Journal: Source Code for Biology and Medicine 16;8(1):21
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Incidental findings: the time is not yet ripe for a policy for biobanks
Author(s): Viberg J, Hansson MG, Langenskiöld S, Segerdahl P
Date: September 25, 2013
Journal: European Journal of Human Genetics
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Informing public health policy through deliberative public engagement: perceived impact on participants and citizen–government relations
Author(s): Molster C, Potts A, McNamara B, Youngs L, Maxwell S, Dawkins H, O'Leary P
Date: September 1, 2013
Journal: Genetic Testing and Molecular Biomarkers 17(9):713-8
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Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis
Author(s): Baynam GS, Walters M, Dawkins H, Bellgard M, Halbert AR, Claes P
Date: August 1, 2013
Journal: Twin Research and Human Genetics 16(4):840-4
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PhenoTips: patient phenotyping software for clinical and research use
Author(s): Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M
Date: August 1, 2013
Journal: Human Mutation 34(8):1057-65
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Role of international registries in enhancing the care of familial hypercholesterolaemia
Author(s): Hammond E, Watts GF, Rubinstein Y, Farid W, Livingston M, Knowles JW, Lochmüller H, Bellgard M, Dawkins HJ
Date: June 10, 2013
Journal: International Journal of Evidence-Based Healthcare 11(2):134-9
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Rare diseases need global solutions: new international initiatives in rare disease omics research
Author(s): Lochmüller H, Thompson R
Date: June 1, 2013
Journal: BSGM News 49:2-3
Rare diseases and now rare data?
Author(s): Mascalzoni D, Knoppers BM, Aymé S, Macilotti M, Dawkins H, Woods S, Hansson MG
Date: April 23, 2013
Journal: Nature Reviews Genetics 14: 372
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Patients would benefit from simplified ethical review and consent procedure
Author(s): Hansson MG, van Ommen GJ, Chadwick R, Dillner J
Date: March 21, 2013
Journal: Lancet Oncology 14(6):451-3
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The facial evolution: looking backward and moving forward
Author(s): Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Gillett D, Goldblatt J
Date: January 1, 2013
Journal: Human Mutation 34 (1):14-22
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COEUS: “semantic web in a box” for biomedical applications
Author(s): Lopes P, Oliveira JL
Date: December 17, 2012
Journal: Journal of Biomedical Semantics 3(1):11
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EPIRARE survey on activities and needs of rare disease registries in the European Union
Author(s): Taruscio D, Gainotti S, Vittozzi L, Bianchi F, Ensini M, Posada M
Date: November 22, 2012
Journal: Orphanet Journal of Rare Diseases 7(Suppl 2):A22
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A modular approach to disease registry design: successful adoption of an internet-based rare disease registry
Author(s): Bellgard MI, Macgregor A, Janon F, Harvey A, O'Leary P, Hunter A, Dawkins H
Date: October 1, 2012
Journal: Human Mutation 33(10):E2356-66
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Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases
Author(s): Molster C, Youngs L, Hammond E, Dawkins H; National Rare Diseases Coordinating Committee; National Rare Diseases Working Group
Date: August 1, 2012
Journal: Orphanet Journal of Rare Diseases 10;7:50
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Yabi: An online research environment for grid, high performance and cloud computing
Author(s): Hunter AA, Macgregor AB, Szabo TO, Wellington CA, Bellgard MI
Date: February 15, 2012
Journal: Source Code for Biology and Medicine 7(1):1
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Biobanking in rare disorders
Author(s): Lochmüller H, Schneiderat P
Date: December 31, 2010
Journal: Advances in Experimental Medicine and Biology 686:105-13
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The role of biobanking in rare diseases: European consensus expert group report
Author(s): Lochmüller H, Aymé S, Pampinella F, Melegh B, Kuhn KA, Antonarakis SE, Meitinger T
Date: September 24, 2010
Journal: Biopreservation and Biobanking 7(3)
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Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)
Author(s): Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, Farber A, Farmer J, Ferguson JH, Forrest CB, Lockhart NC, McCurdy KR, Moore H, Pollen GB, Richesson R, Miller VR, Hull S, Vaught J
Date: September 1, 2010
Journal: Contemporary Clinical Trials 31(5):394-404
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International network of cancer genome projects
Author(s): International Cancer Genome Consortium, Hudson TJ, Anderson W, Artez A, Barker AD et al
Date: June 17, 2010
Journal: Nature 465(7300):966
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