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.

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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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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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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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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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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