Recent Submissions

  • Protection of Personal Information Act No. 4 of 2013: Implications for biobanks 

    Staunton C; de Stadler E (2019)
    The Protection of Personal Information Act (POPIA) No. 4 of 2013 is the first comprehensive data-protection regulation to be passed in South Africa (SA). Its objectives include giving effect to the constitutional right to ...
  • The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks. 

    Staunton C; Slokenberga S; Mascalzoni D (2019)
    The General Data Protection Regulation (GDPR) came into force in May 2018. The aspiration of providing for a high level of protection to individuals' personal data risked placing considerable constraints on scientific ...
  • Improving the accuracy of two-sample summary-data Mendelian randomization: moving beyond the NOME assumption 

    Bowden J; Del Greco M F; Minelli C; Zhao Q; Lawlor DA; Sheehan NA; Thompson J; Smith GD (2018)
    Background Two-sample summary-data Mendelian randomization (MR) incorporating multiple genetic variants within a meta-analysis framework is a popular technique for assessing causality in epidemiology. If all genetic ...
  • The Histone Deacetylase Inhibitor Suberoylanilide Hydroxamic Acid (SAHA) Restores Cardiomyocyte Contractility in a Rat Model of Early Diabetes 

    Bocchi L; Motta BM; Savi M; Vilella R; Meraviglia V; Rizzi F; Galati S; Buschini A; Lazzaretti M; Pramstaller PP; Rossini A; Stilli D (2019)
    In early diabetes, hyperglycemia and the associated metabolic dysregulation promote early changes in the functional properties of cardiomyocytes, progressively leading to the appearance of the diabetic cardiomyopathy ...
  • Statins are protective against appropriate ICD intervention in patients with non-ischemic hypokinetic cardiomyopathy 

    Manfrin M; Foco L; Cima A; Oberhollenzer R; Bonmassari R; Pramstaller PP; Marini M; Cemin R (2017)
  • Mendelian Randomization 

    Grover S; Stein CM; Ziegler A; Del Greco M F (2017)
    Confounding and reverse causality have prevented us from drawing meaningful clinical interpretation even in well-powered observational studies. Confounding may be attributed to our inability to randomize the exposure ...
  • emeraLD: rapid linkage disequilibrium estimation with massive datasets 

    Quick C; Fuchsberger C; Taliun D; Abecasis G; Boehnke M; Kang HM (2018)
    Estimating linkage disequilibrium (LD) is essential for a wide range of summary statistics-based association methods for genome-wide association studies. Large genetic datasets, e.g. the TOPMed WGS project and UK Biobank, ...
  • Genome-wide association meta-analysis of PR interval identifies 50 novel loci associated with atrial and atrioventricular electrical activity 

    van Setten J; Brody JA; Jamshidi Y; Swenson BR; Butler AM; Campbell H; Del Greco M F; Evans DS; Gibson Q; Gudbjartsson DF; Kerr KF; Krijthe BP; Lyytikäinen LP; Müller C; Müller-Nurasyid M; Nolte IM; Padmanabhan S; Ritchie MD; Robino A; Smith AV; Steri M; Tanaka T; Teumer A; Trompet S; Ulivi S; Verweij N; Yin X; Arnar DO; Asselbergs FW; Bader JS; Barnard J; Bis S; Blankenberg S; Boerwinkle E; Bradford Y; Buckley BM; Chung MK; Crawford D; den Hoed M; Denny JC; Dominiczak AF; Ehret GB; Eijgelsheim M; Ellinor PT; Felix SB; Franco OH; Franke L; Harris TB; Holm H; Gandin I; Iorio A; Kähönen M; Kolcic I; Kors JA; Lakatta EG; Launer LJ; Lin H; Lin HJ; Loos RJF; Lubitz SA; Macfarlane PW; Magnani JW; Mateo Leach I; Meitinger T; Mitchell BD; Munzel T; Papanicolaou GJ; Peters A; Pfeufer A; Pramstaller PP; Raitakari OT; Rotter JI; Rudan I; Samani NJ; Schlessinger D; Silva Aldana CT; Sinner MF; Smith JD; Snieder H; Soliman EZ; Spector TD; Stott DJ; Strauch K; Tarasov KV; Thorsteinsdottir U; Uitterlinden AG; Van Wagoner DR; Völker U; Völzke H; Waldenberger M; Jan Westra H; Wild PS; Zeller T; Alonso A; Avery CL; Bandinelli S; Benjamin EJ; Cucca F; Dörr M; Ferrucci L; Gasparini P; Gudnason V; Hayward C; Heckbert SR; Hicks AA; Wouter Jukema J; Kääb S; Lehtimäki T; Liu Y; Munroe PB; Parsa A; Polasek O; Psaty BM; Roden DM; Schnabel RB; Sinagra G; Stefansson K; Stricker BH; van der Harst P; van Duijn CM; Wilson JF; Gharib SA; de Bakker PIW; Isaacs A; Arking DE; Sotoodehnia N (2018)
    Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 ...
  • Molecular and functional characterization of hiPSCs derived dopaminergic neurons 

    Überbacher C; Obergasteiger J; Volta M; Beccano-Kelly D; Rosato-Siri M; Lavdas A; Hicks AA; Cowley S; Pramstaller PP; Corti C (2017)
    Parkinson’s disease (PD) is a chronic progressive neurodegenerative disorder characterized by loss of dopaminergic (DA) neurons in the substantia nigra pars compacta and by intracellular inclusions (Lewy bodies) in surviving ...
  • Increased Anxiety-Related Behavior, Impaired Cognitive Function and Cellular Alterations in the Brain of Cend1-deficient Mice 

    Segklia K; Stamatakis A; Stylianopoulou F; Lavdas AA; Matsas R (2019)
    Cend1 is a neuronal-lineage specific modulator involved in coordination of cell cycle exit and differentiation of neuronal precursors. We have previously shown that Cend1−/− mice show altered cerebellar layering caused by ...
  • Analysis of influenza vaccination coverage among the elderly living in Rome, based on a deprivation index, 2009-13 

    Vukovic V; Lillini R; Asta F; Chini F; De Waure C (2018)
    Introduction: Elderly people are more likely to develop influenza-related complications, but despite the recommendations, the optimal vaccination coverage is not reached. The use of deprivation indices can help identifying ...
  • Biomedical Research in South Tyrol 

    Farbridge PD; Hicks AA; Pramstaller PP; Baumgartner B; Defranceschi L; Munari E; Hechensteiner S (Eurac Research, 2016)
  • Association of common variants in arrhythmogenic cardiomyopathy desmosomal genes with ECG traits in the general population 

    Foco L; Fuchsberger C; Gögele M; Murgia F; Schmidt G; Rossini A; Pramstaller P; Pattaro P (2017)
    Purpose Arrhythmogenic cardiomyopathy (AC) is a rare condition, with familial inheritance, featuring life-threatening arrhythmias and cardiomyocite replacement with fibro-fatty cells. Such alterations are reflected in ...
  • NOS1AP Variant rs7539120 is Associated with Appropriate Implantable Cardioverter Defibrillators (ICD) Shock 

    Foco L; Volpato CB; Manfrin M; Cima A; Bozzolan I; De Grandi A; Pramstaller P; Minelli C; Marini M; Cemin R (2016)
    Implantable cardioverter defibrillators (ICD) are used to prevent Sudden Cardiac Death (SCD) in patients with heart failure, but currently only 30% of them experience an appropriate ICD activation during their life. ...
  • Bioinformatic and mendelian randomization analyses characterize variants in desmosomal genes associated with ECG traits in the general population 

    Foco L; Del Greco M F; Fuchsberger C; Gögele M; Murgia F; Huan T; Levy DB; Teumer A; Dörr M; Schmidt G; Rossini A; Pramstaller PP; Pattaro C (2018)
    Introduction: Arrhythmogenic cardiomyopathy is caused by mutations in desmosomal genes. We previously tested association of common variants in such genes with physiological cardiac conduction traits. From an analysis of ...
  • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits 

    Evangelou E; Warren HR; Mosen-Ansorena D; Mifsud B; Pazoki R; Gao H; Ntritsos G; Dimou N; Cabrera CP; Karaman I; Ng FL; Evangelou M; Witkowska K; Tzanis E; Hellwege JN; Giri A; Velez Edwards DR; Sun YV; Cho K; Gaziano JM; Wilson PWF; Tsao PS; Kovesdy CP; Esko T; Mägi R; Milani L; Almgren P; Boutin T; Debette S; Ding J; Giulianini F; Holliday EG; Jackson AU; Li-Gao R; Lin WY; Luan J; Mangino M; Oldmeadow C; Prins BP; Qian Y; Sargurupremraj M; Shah N; Surendran P; Thériault S; Verweij N; Willems SM; Zhao JH; Amouyel P; Connell J; de Mutsert R; Doney ASF; Farrall M; Menni C; Morris AD; Noordam R; Paré G; Poulter NR; Shields DC; Stanton A; Thom S; Abecasis G; Amin N; Arking DE; Ayers KL; Barbieri CM; Batini C; Bis JC; Blake T; Bochud M; Boehnke M; Boerwinkle E; Boomsma DI; Bottinger EP; Braund PS; Brumat M; Campbell A; Campbell H; Chakravarti A; Chambers JC; Chauhan G; Ciullo M; Cocca M; Collins F; Cordell HJ; Davies G; Borst MH; Geus EJ; Deary IJ; Deelen J; Del Greco M F; Demirkale CY; Dörr M; Ehret GB; Elosua R; Enroth S; Erzurumluoglu AM; Ferreira T; Frånberg M; Franco OH; Gandin I; Gasparini P; Giedraitis V; Gieger C; Girotto G; Goel A; Gow AJ; Gudnason V; Guo X; Gyllensten U; Hamsten A; Harris TB; Harris SE; Hartman CA; Havulinna AS; Hicks AA; Hofer E; Hofman A; Hottenga JJ; Huffman JE; Hwang SJ; Ingelsson E; James A; Jansen R; Jarvelin MR; Joehanes R; Johansson Å; Johnson AD; Joshi PK; Jousilahti P; Jukema JW; Jula A; Kähönen M; Kathiresan S; Keavney BD; Khaw KT; Knekt P; Knight J; Kolcic I; Kooner JS; Koskinen S; Kristiansson K; Kutalik Z; Laan M; Larson M; Launer LJ; Lehne B; Lehtimäki T; Liewald DCM; Lin L; Lind L; Lindgren CM; Liu Y; Loos RJF; Lopez LM; Lu Y; Lyytikäinen LP; Mahajan A; Mamasoula C; Marrugat J; Marten J; Milaneschi Y; Morgan A; Morris AP; Morrison AC; Munson PJ; Nalls MA; Nandakumar P; Nelson CP; Niiranen T; Nolte IM; Nutile T; Oldehinkel AJ; Oostra BA; O'Reilly PF; Org E; Padmanabhan S; Palmas W; Palotie A; Pattie A; Penninx BWJH; Perola M; Peters A; Polasek O; Pramstaller PP; Nguyen QT; Raitakari OT; Ren M; Rettig R; Rice K; Ridker PM; Ried JS; Riese H; Ripatti S; Robino A; Rose LM; Rotter JI; Rudan I; Ruggiero D; Saba Y; Sala CF; Salomaa V; Samani NJ; Sarin AP; Schmidt R; Schmidt H; Shrine N; Siscovick D; Smith AV; Snieder H; Sõber S; Sorice R; Starr JM; Stott DJ; Strachan DP; Strawbridge RJ; Sundström J; Swertz MA; Taylor KD; Teumer A; Tobin MD; Tomaszewski M; Toniolo D; Traglia M; Trompet S; Tuomilehto J; Tzourio C; Uitterlinden AG; Vaez A; van der Most PJ; van Duijn CM; Vergnaud AC; Verwoert GC; Vitart V; Völker U; Vollenweider P; Vuckovic D; Watkins H; Wild SH; Willemsen G; Wilson JF; Wright AF; Yao J; Zemunik T; Zhang W; Attia JR; Butterworth AS; Chasman DI; Conen D; Cucca F; Danesh J; Hayward C; Howson JMM; Laakso M; Lakatta EG; Langenberg C; Melander O; Mook-Kanamori DO; Palmer CNA; Risch L; Scott RA; Scott RJ; Sever P; Spector TD; van der Harst P; Wareham NJ; Zeggini E; Levy D; Munroe PB; Newton-Cheh C; Brown MJ; Metspalu A; Hung AM; O'Donnell CJ; Edwards TL; Million Veteran Program; Psaty BM; Tzoulaki I; Barnes MR; Wain LV; Elliott P; Caulfield MJ (2018)
    High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in ...
  • Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells 

    Guida M; Zanon A; Montibeller L; Lavdas AA; Ladurner J; Pischedda F; Rakovic A; Domingues FS; Piccoli G; Klein C; Pramstaller PP; Hicks AA; Pichler I (2019)
    Mutations in the PRKN gene (encoding parkin) have been linked to the most frequent known cause of recessive Parkinson's disease (PD), and parkin dysfunction represents a risk factor for sporadic PD. Parkin is widely ...
  • Age at menarche and adult body mass index: a Mendelian randomization study 

    Gill D; Brewer CF; Del Greco M F; Sivakumaran P; Bowden J; Sheehan NA; Minelli C (2018)
    BACKGROUND: Pubertal timing has psychological and physical sequelae. While observational studies have demonstrated an association between age at menarche and adult body mass index (BMI), confounding makes it difficult to ...

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