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.

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

Beekman JM, Wang CM, Casati S, Tuggle KL, Gulmans VAM, Amaral M, De Boeck K

Journal of Cystic Fibrosis 2017 May 3. pii: S1569-1993(17)30105-4, May 2017


Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Hanns Lochmüller H

Neurology Genetics, May 2017


Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

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

American Journal of Human Genetics, February 2017


A Web-Based Registry for Familial Hypercholesterolaemia

Napier KR, Pang J, Lamont L, Walker CE, Dawkins HJ, Hunter AA, Bockxmeer FM, Watts GF, Bellgard MI.

Heart Lung and Circulation, November 2016


Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study

West SD, Lochmuller H, Hughes J, Atalaia A, Marini-Bettolob C, Baudouin SV, Anderson KN

Journal of Neuromuscular Disorders 3(4):529-537, November 2016


The Human Phenotype Ontology in 2017

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

Nucleic Acids Research 45(D1):D865-D876, November 2016


Association Study of Exon Variants in the NF-kB and TGFb Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

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

American Journal of Human Genetics 99, 1–9, November 3, 2016, November 2016


Translational development of splice-modifying antisense oligomers

Fletcher S, Bellgard MI, Price L, Akkari AP, Wilton SD

Expert Opinion on Biological Therapy 17(1)15-30, November 2016


Correlation of SIN3A genomic variants with beta-hemoglobinopathies disease severity and hydroxyurea treatment efficacy

Gravia A, Chondrou V, Kolliopoulou A, Kourakli A, John A, Symeonidis A, Ali BR, Sgourou A, Papachatzopoulou A, Katsila T, Patrinos GP

Pharmacogenomics 17(16):1785-93, November 2016


CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model

Pan Y, Shen N, Jung-Klawitter S, Betzen C, Hoffmann GF, Hoheisel JD, Blau N

Scientific Reports, October 2016


Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.

Jung-Klawitter S, Blau N, Sebe A, Ebersold J, Gohring G, Opladen T

Stem Cell Research 17(3):580-583, October 2016


Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies

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

Nucleic Acids Research 45(D1):D846-D853, October 2016


WES/WGS Reporting of Mutations from Cardiovascular “Actionable” Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

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

Human Mutation 37(12):1308-1317, October 2016


How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

Salgado D, Bellgard MI, Desvignes JP, Beroud C

Human Mutation 37(12):1272-1282, September 2016


Actionable Genes, Core Databases, and Locus-Specific Databases

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

Human Mutation 37(12):1299-1307, September 2016


A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

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

PLoS One 11(9):e0162866, September 2016


From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing

Laurie S, Fernandez-Callejo M, Marco-Sola S, Trotta JR, Camps J, Chacon A, Espinosa A, Gut M, Gut I, Heath S, Beltran S

Human Mutation 11(9):e0162801, September 2016


ePGA: A Web-Based Information System for Translational Pharmacogenomics

Lakiotaki K, Kartsaki E, Kanterakis A, Katsila T, Patrinos GP, Potamias G.

PLoS One 11(9):e0162801, September 2016


In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU

Trunzo R, Santacroce R, Shen N, Jung-Klawitter S, Leccese A, De Girolamo G, Margaglione M, Blau N

Gene ep 9. pii: S0378-1119(16)30731-4, September 2016


Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

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

American Journal of Human Genetics, September 2016


Big Data Governance: Solidarity and the Patient Voice

Woods, S

The Ethics of Biomedical Big Data 29:221-238, August 2016


Common disease signatures from gene expression analysis in Huntington’s disease human blood and brain

Mina E, van Roon-Mom W, Hettne K, van Zwet E, Goeman J, Neri C, ’t Hoen PAC, Mons B, Roos M

Orphanet Journal of Rare Diseases 11(1):97, August 2016


Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington’s disease peripheral blood samples

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

Metabolomics (2016) 12:137, July 2016


MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks

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

Bioinformatics 15;32(14):2176-83, July 2016


CARGO: effective format-free compressed storage of genomic information

Roguski L, Ribeca P

Nucleic Acids Research 44(12):e114, July 2016


A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

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

Brain, June 2016


Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

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

Brain, June 2016


Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?

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

Biopreservation and Biobanking, June 2016


The risk of re-identification versus the need to identify individuals in rare disease research

Hansson MG, Lochmüller H, Riess O, Schaefer F, Orth M, Rubinstein Y, Molster C, Hugh Dawkins, Taruscio D, Posada M, Woods S

European Journal of Human Genetics, May 2016


Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide

Lopez E, Thompson R, Gainotti S, Wang CM, Rubinstein Y, Taruscio D, Monaco L, Lochmuller H, Alonso V, Posada de la Paz M

Expert Opinion on Orphan Drugs, May 2016


Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

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

Journal of Neurology, May 2016


Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

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

Journal of Cell Science, April 2016


‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

McCormack P, Kole A, Gainotti S, Mascalzoni D, Molster C, Lochmuller L, Woods S

European Journal of Human Genetics, April 2016


Limb-girdle muscular dystrophies – international collaborations for translational research

Thompson R, Straub V

Nat Rev Neurol. 2016 Apr 1, April 2016


The Quality of Rare Disease Registries: Evaluation and Characterization

Coi A, Santoro M, Villaverde-Hueso A, Lipucci Di Paola M, Gainotti S, Taruscio D, Posada de la Paz M, Bianchi F

Public Health Genomics 19(2):108-15, March 2016


KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

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

Journal of Neurology 263(3):517-23, March 2016


Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients

Oonk S, Spitali P, Hiller M, Switzar L, Dalebout H, Calissano M, Lochmüller H, Aartsma-Rus A, 't Hoen PA, van der Burgt YE

Proteomics - Clinical Applications 2016 Mar;10(3):290-9, March 2016


A knowledge federation architecture for rare disease patient registries and biobanks

Sernadela P, Lopes P, Oliveira J

Journal of Information Systems Engineering & Management, March 2016


The Implicitome: A Resource for Rationalizing Gene-Disease Associations

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

PLoS One, February 2016


Genetics of Phenylketonuria: Then and Now

Blau N

Human Mutation, February 2016


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

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

Pharmacogenomics 17(4):393-403, February 2016


Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D

Eur J Hum Genet, February 2016


UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Salgado D, Desvignes JP, Rai G, Blanchard A, Miltgen M, Pinard A, Lévy N, Collod-Béroud G, Béroud C

Human Mutation 37(5):439-46, February 2016


Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

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

Neuromuscular Disorders 26(2):153-9, February 2016


Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy

Meng J, Counsell JR, Reza M, Laval SH, Danos O, Thrasher A, Lochmüller H, Muntoni F, Morgan JE

Scientific Reports 6:19750, January 2016


Consent Codes: Upholding Standard Data Use Conditions

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

PLos Genetics 12(1):e1005772, January 2016


Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease

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

PNAS 113(3):746-50, January 2016


Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation

Shen N, Heintz C, Thiel C, Okun JG, Hoffmann GF, Blau N

Molecular Genetics and Metabolism, January 2016


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

Ugrin M, Stojiljkovic M, Zukic B, Klaassen K, Katsila T, Vasiljevic J, Dokmanovic L, Janic D, Patrinos GP, Pavlovic S

Hemoglobin 40(1):48-52., January 2016


Chemical entity recognition in patents by combining dictionary-based and statistical approaches

Akhondi SA, Pons E, Afzal Z, van Haagen H, Becker BFH, Hettne KM, van Mulligen EM, Kors JA

Database 2016:baw061, January 2016


Identification of novel, therapy responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamerbased serum proteomics

Coenen-Stass AM, McClorey G, Manzano R, Betts CA, Blain A, Saleh AF, Gait MJ, Lochmüller H, Wood MJ, Roberts TC

Scientific Reports 2015 Nov 23;5:17014, November 2015


Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

Daoud H, Papadima EM, Ouled Amar Bencheikh B, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA

European Journal of Medical Genetics 2015 Nov;58(11):573-7, November 2015


Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H

Neurology (epub ahead of print), October 2015


Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)

Chen Q, Muller JS, Pang P, Laval SH, Haslam SM, Lochmuller H, Dell A

Biomolecules 5(4): 2758-2781, October 2015


An automated real-time integration and interoperability framework for bioinformatics

Lopes P, Oliveira JL

BMC Bioinformatics 2015 Oct 13;16:328, October 2015


Challenges and Opportunities for Exploring Patient-Level Data

Lopes P, Silva LB, Oliveira JL

Biomed Research International, October 2015


Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

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

The Lancet, Neurology, September 2015


Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy

Burch PM, Pogoryelova O, Goldstein R, Bennett D, Guglieri M, Straub V, Bushby K, Lochmuller H, Morris C

Journal of Neuromuscular Diseases 2 (3):241-255, September 2015


Meta-Analysis of Genes in Commercially Available Nutrigenomic Tests Denotes Lack of Association with Dietary Intake and Nutrient-Related Pathologies

Pavlidis C, Lanara Z, Balasopoulou A, Nebel JC, Katsila T, Patrinos GP

OMICS 19(9):512-20, September 2015


Genetic, environmental, and epigenetic factors involved in CAKUT.

Nicolaou N, Renkema KY, Bongers EM, Giles RH & Knoers NV

Nature Reviews Nephrology, August 2015


Multidisciplinary collaboration to facilitate hypotheses generation in Huntington’s Disease

Mina E, Thompson M, Hettne KM, van Roon-Mom W, Kaliyaperumal R, van der Horst E, Wolstencroft K, Mons B, Roos M

2015 IEEE 11th International Conference on e-Science, August 2015


Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness

Evangelista T, Hanna M, Lochmüller H

Journal of Neuromuscular Diseases, July 2015


Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

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.

Brain, July 2015


The implications of metabotypes for rationalizing therapeutics in infants and children

Katsila T and Patrinos GP

Frontiers in Pediatrics, July 2015


Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies

Bushby K

Journal of Neuromuscular Diseases, July 2015


GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

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

Neuromuscular Disorders, July 2015


From Peer-Reviewed to Peer-Reproduced in Scholarly Publishing: The Complementary Roles of Data Models and Workflows in Bioinformatics

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

PLoS One 10(7):e0127612, July 2015


The European Genome-phenome Archive of human data consented for biomedical research

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

Nature Genetics, June 2015


Phenotypic variability of TRPV4 related neuropathies

Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R.

Neuromuscular Disorders, June 2015


Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

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

Journal of Neurology, Neurosurgery & Psychiatry, June 2015


Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach

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

Human Genetics 2015 Jun 20;9:12, June 2015


Towards a knowledge federation of linked patient registries

Lopes P, Sernadela P, Oliveira JL

Proceedings of the 2015 10th Iberian Conference on Information Systems and Technologies (Cisti 2015), June 2015


DISim: Ontology-driven simulation of biomedical data integration tasks

Sernadela P, Pereira A, Rossetti R

Proceedings of the 2015 10th Iberian Conference on Information Systems and Technologies (Cisti 2015), June 2015


Recessive Mutations in the α3(VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia.

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

The American Journal of Human Genetics, June 2015


Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

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

Journal of Neurology, June 2015


Integration-as-a-service for bioinformatics

Lopes P, Oliveira JL

Proceedings of the 2015 10th Iberian Conference on Information Systems and Technologies (Cisti 2015), June 2015


An alignment-free method to find and visualise rearrangements between pairs of DNA sequences

Pratas D, Silva RM, Pinho AJ, Ferreira PJSG

Scientific Reports 5(10203), May 2015


Freedom of Choice About Incidental Findings Can Frustrate Participants’ True Preferences

Viberg J, Segerdahl P, Langenskiöld S, Hansson MG

Bioethics 2015 Apr 23(epub ahead of print), April 2015


A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J

American Journal of Medical Genetics, April 2015


Three minimal sequences found in Ebola virus genomes and absent from human DNA

Silva RM, Pratas D, Castro L, Pinho AJ, Ferreira PJ

Bioinformatics 31(15):2421-5, April 2015


Whole genome sequencing in pharmacogenomics

Katsila T, Patrinos G

Frontiers in Pharmacology, March 2015


The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect

Monaco L, Crimi M, Wang CM

Pathobiology, March 2015


A 3′-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

Dusl M, Senderek J, Müller JS, Vogel JG, Pertl A, Stucka R, Lochmüller H, David R, Abicht A

Human Molecular Genetics, March 2015


Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria

Wettstein S, Underhaug J, Perez B, Marsden BD, Yue WW, Martinez A & Blau N

European Journal of Human Genetics 23, 302-309, February 2015


Nanopublications for exposing experimental data in the life-sciences: a Huntington’s Disease case study

Mina E, Thompson M, Kaliyaperumal R, Zhao J, der Horst v E, Tatum Z, Hettne KM, Schultes EA, Mons B, Roos M.

Journal of Biomedical Sciences 6:5, February 2015


The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations

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

Human Mutation, January 2015


Gateways to the FANTOM5 promoter level mammalian expression atlas

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.

Genome Biology, January 2015


A Semantic Layer for Unifying and Exploring Biomedical Document Curation Results

Sernadela P, Lopes P, Campos D, Matos S, Oliveira JL

Bioinformatics and Biomedical Engineering 9043:8, January 2015


An Event-Driven Architecture for Biomedical Data Integration and Interoperability

Lopes P, Oliveira JL

Bioinformatics and Biomedical Engineering 9044:165, January 2015


RecRWR: a recursive random walk method for improved identification of diseases

Arrais JP, Oliveira JL

Biomed Research International, January 2015


Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora

Groza T, Kohler S, Doelken S, Collier N, Oellrich A, Smedley D, Couto FM, Baynam G, Zankl A, Robinson PN

Database, January 2015


204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands

Ferlini A, Flanigan KM, Lochmuller H, Muntoni F, ‘t Hoen P A.C & McNally E

Neuromuscular Disorders, December 2014


The EuroBioBank Network: Ten years of hands-on experience of collaborative, transnational biobanking for rare diseases

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

European Journal of Human Genetics, 23, 1116–1123, December 2014


Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

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

Journal of Neurology, Neurosurgery and Psychiatry, December 2014


Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

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

Health Policy and Technology 3(4):325-35, December 2014


Current trends in biobanking for rare diseases: a review

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

Journal of Biorepository Science for Applied Medicine, November 2014


BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres

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.

European Journal of Human Genetics, November 2014


The impact of integrated omics technologies for patients with rare diseases

Johnston L, Thompson R, Turner C, Bushby K, Lochmüller H, Straub V

Expert Opinion on Orphan Drugs, October 2014


Long-term follow-up in patients with CCFDN syndrome

Walter MC, Bernert G, Zimmermann U, Mullner-Eidenbock A, Moser E, Kalaydjieva L, Lochmuller H, Muller-Felber W

Neurology 83(15):1337-44, October 2014


International Charter of principles for sharing bio-specimens and data

Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJS, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M

European Journal of Human Genetics (2014) 1–8, September 2014


Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

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

The American Journal of Human Genetics 95, 332–339, September 2014


ANO10 mutations cause ataxia and coenzyme Q10 deficiency

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

The Journal of Neurology, August 2014


Explain your data by Concept Profile Analysis Web Services

Hettne KM, van Schouwen R, Mina E, van der Horst E, Thompson M, Kaliyaperuma R, Mons B, van Mulligen E, Kors JA, Roos M

F1000 Research 3:173, July 2014


RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

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.

J Gen Intern Med. 2014 Aug;29 Suppl 3:S780-7, July 2014


EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

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

Nature Communications 5:4287, July 2014


Molecular genetics and diagnosis of phenylketonuria: state of the art

Blau N, Shen N, Carducci C

Expert Review of Molecular Diagnostics 14(6):655-71, July 2014


Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

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

Human Mutation 35(7): 779-90, July 2014


Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

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

Journal of Neuromuscular Diseases, June 2014


Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

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

Brain 2014, June 2014


Second Generation Registry Framework

Bellgard M, Render L, Radochonski M, Hunter A

Source Code for Biology and Medicine, June 2014


Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.

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.

EMBO Molecular Medicine, June 2014


A Nanopublishing Architecture for Biomedical Data

Sernadela P, van der Horst E, Thompson M, Lopes P, Roos M, Oliveira JL

8th International Conference on Practical Applications of Computational Biology & Bioinformatics (Pacbb 2014) 294:277-84, June 2014


Genetics and global healthcare

Bittles, AH

The journal of the Royal College of Physicians of Edinburgh, May 2014


Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy

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

Human Molecular Genetics 1;23(9):2353-63, May 2014


Rare disease research: Breaking the privacy barrier

Mascalzoni D, Paradiso A, Hansson M

Applied & Translational Genomics 3(2):23-9., April 2014


The current situation and needs of rare disease registries in europe

Taruscio D, Gainotti S, Mollo E, Vittozzi L, Bianchi F, Ensini M, Posada M

Public Health Genomics 16(6):288-98, February 2014


A model for the European platform for rare disease registries

Vittozzi L, Gainotti S, Mollo E, Donati C, Taruscio D

Public Health Genomics 16(6):299-304, February 2014


Fibronectin is a serum biomarker for Duchenne muscular dystrophy

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

Proteomics - Clinical Applications, January 2014


The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

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

Nucleic Acids Res. 2014 Jan 1;42(1):D966-74, January 2014


Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies

Papadopoulos P, Viennas E, Gkantouna V, Pavlidis C, Bartsakoulia M, Ioannou ZM, Ratbi I, Sefiani A, Tsaknakis J, Poulas K, Tzimas G, Patrinos GP

Nucleic Acids Research 1;42(1):D1020-6, January 2014


Preserving sequence annotations across reference sequences

Tatum Z, Roos M, Gibson AP, Taschner PE, Thompson M, Schultes EA, Laros JF

Journal of Biomedical Semantics 5(Suppl 1 Proceedings of the Bio-Ontologies Spec Interest G):S6, January 2014


Setting up strategies: patient inclusion in biobank and genomics research in Europe

McCormack P, Kole A

Orphanet Journal of Rare Diseases, January 2014


An innovative portal for rare genetic diseases research: The semantic Diseasecard

Lopes P, Oliveira JL.

Journal of Biomedical Informatics 46(6):1108-15, December 2013


The New Zealand Neuromuscular Disease Registry

Rodrigues M, Hammond-Tooke G, Kidd A, Love D, Patel R, Dawkins H, Bellgard M, Roxburgh R

Journal of Clinical Neuroscience 19(12):1749-50, December 2013


Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meeting

Ellard S, Patrinos GP, Oetting WS

Human Mutation 34(11):1583-7, November 2013


Dispelling myths about rare disease registry system development

Bellgard M, Beroud C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A

Source Code for Biology and Medicine 16;8(1):21, October 2013


Incidental findings: the time is not yet ripe for a policy for biobanks

Viberg J, Hansson MG, Langenskiöld S, Segerdahl P

European Journal of Human Genetics, September 2013


Informing public health policy through deliberative public engagement: perceived impact on participants and citizen–government relations

Molster C, Potts A, McNamara B, Youngs L, Maxwell S, Dawkins H, O'Leary P

Genetic Testing and Molecular Biomarkers 17(9):713-8, September 2013


Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis

Baynam GS, Walters M, Dawkins H, Bellgard M, Halbert AR, Claes P

Twin Research and Human Genetics 16(4):840-4, August 2013


PhenoTips: patient phenotyping software for clinical and research use

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

Human Mutation 34(8):1057-65, August 2013


Role of international registries in enhancing the care of familial hypercholesterolaemia

Hammond E, Watts GF, Rubinstein Y, Farid W, Livingston M, Knowles JW, Lochmüller H, Bellgard M, Dawkins HJ

International Journal of Evidence-Based Healthcare 11(2):134-9, June 2013


Rare diseases need global solutions: new international initiatives in rare disease omics research

Lochmüller H, Thompson R

BSGM News 49:2-3, June 2013


Rare diseases and now rare data?

Mascalzoni D, Knoppers BM, Aymé S, Macilotti M, Dawkins H, Woods S, Hansson MG

Nature Reviews Genetics 14: 372, April 2013


Patients would benefit from simplified ethical review and consent procedure

Hansson MG, van Ommen GJ, Chadwick R, Dillner J

Lancet Oncology 14(6):451-3, March 2013


The facial evolution: looking backward and moving forward

Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Gillett D, Goldblatt J

Human Mutation 34 (1):14-22, January 2013


COEUS: “semantic web in a box” for biomedical applications

Lopes P, Oliveira JL

Journal of Biomedical Semantics 3(1):11, December 2012


EPIRARE survey on activities and needs of rare disease registries in the European Union

Taruscio D, Gainotti S, Vittozzi L, Bianchi F, Ensini M, Posada M

Orphanet Journal of Rare Diseases 7(Suppl 2):A22, November 2012


A modular approach to disease registry design: successful adoption of an internet-based rare disease registry

Bellgard MI, Macgregor A, Janon F, Harvey A, O'Leary P, Hunter A, Dawkins H

Human Mutation 33(10):E2356-66, October 2012


Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

Molster C, Youngs L, Hammond E, Dawkins H; National Rare Diseases Coordinating Committee; National Rare Diseases Working Group

Orphanet Journal of Rare Diseases 10;7:50, August 2012


Yabi: An online research environment for grid, high performance and cloud computing

Hunter AA, Macgregor AB, Szabo TO, Wellington CA, Bellgard MI

Source Code for Biology and Medicine 7(1):1, February 2012


Biobanking in rare disorders

Lochmüller H, Schneiderat P

Advances in Experimental Medicine and Biology 686:105-13, December 2010


The role of biobanking in rare diseases: European consensus expert group report

Lochmüller H, Aymé S, Pampinella F, Melegh B, Kuhn KA, Antonarakis SE, Meitinger T

Biopreservation and Biobanking 7(3), September 2010


Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

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

Contemporary Clinical Trials 31(5):394-404, September 2010


International network of cancer genome projects

International Cancer Genome Consortium, Hudson TJ, Anderson W, Artez A, Barker AD et al

Nature 465(7300):966, June 2010