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  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 ...
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  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 ...
• Functional Effects of Striatin Knockout in Mouse Embryonic Stem Cell-derived Cardiomyocytes 

  Rosato Siri MD (2017)
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  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, ...
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  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 ...
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  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 ...
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  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 ...
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  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 ...
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  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. ...
• Morphology of vessel occlusion at digital subtraction angiography predicts response to endovascular treatment 

  Comai A; Haglmueller TA; Avesani G; Melotti R; Bonatti G (2017)
• 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 ...
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  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 ...
• Mendelian randomization: Progressing towards understanding causality 

  König IR; Del Greco M F (2018)
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  Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees 

  Jun G; Manning A; Almeida M; Zawistowski M; Wood AR; Teslovich TM; Fuchsberger C; Feng S; Cingolani P; Gaulton KJ; Dyer T; Blackwell TW; Chen H; Chines PS; Choi S; Churchhouse C; Fontanillas P; King R; Lee S; Lincoln SE; Trubetskoy V; DePristo M; Fingerlin T; Grossman R; Grundstad J; Heath A; Kim J; Kim YJ; Laramie J; Lee J; Li H; Liu X; Livne O; Locke AE; Maller J; Mazur A; Morris AP; Pollin TI; Ragona D; Reich D; Rivas MA; Scott LJ; Sim X; Tearle RG; Teo YY; Williams AL; Zöllner S; Curran JE; Peralta J; Akolkar B; Bell GI; Burtt NP; Cox NJ; Florez JC; Hanis CL; McKeon C; Mohlke KL; Seielstad M; Wilson JG; Atzmon G; Below JE; Dupuis J; Nicolae DL; Lehman D; Park T; Won S; Sladek R; Altshuler D; McCarthy MI; Duggirala R; Boehnke M; Frayling TM; Abecasis GR; Blangero J (2018)

  A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare ...

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