Recent Submissions

  • The GenomeAsia 100K Project enables genetic discoveries across Asia 

    Wall JD; Stawiski EW; Ratan A; Kim HL; Kim C; Gupta R; Suryamohan K; Gusareva ES; Purbojati RW; Bhangale T; Stepanov V; Kharkov V; Schröder MS; Ramprasad V; Tom J; Durinck S; Bei Q; Li J; Guillory J; Phalke S; Basu A; Stinson J; Nair S; Malaichamy S; Biswas NK; Chambers JC; Cheng KC; George JT; Khor SS; Kim JI; Cho B; Menon R; Sattibabu T; Bassi A; Deshmukh M; Verma A; Gopalan V; Shin JY; Pratapneni M; Santhosh S; Tokunaga K; Md-Zain BM; Chan KG; Parani M; Natarajan P; Hauser M; Allingham RR; Santiago-Turla C; Ghosh A; Gadde SGK; Fuchsberger C; Forer L; Schoenherr S; Sudoyo H; Lansing JS; Friedlaender J; Koki G; Cox MP; Hammer M; Karafet T; Ang KC; Mehdi SQ; Radha V; Mohan V; Majumder PP; Seshagiri S; Seo JS; Schuster SC; Peterson AS (2019)
    The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world’s population. ...
  • Evaluation of the role of STAP1 in Familial Hypercholesterolemia 

    Danyel M; Ott CE; Grenkowitz T; Salewsky B; Hicks AA; Fuchsberger C; Steinhagen-Thiessen E; Bobbert T; Kassner U; Demuth I (2019)
    Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease. The autosomal-dominant FH is mostly caused by ...
  • Risky behaviors and Parkinson disease 

    Grover S; Lill CM; Kasten M; Klein C; Del Greco MF; König IR (2019)
  • Identifying people at risk for influenza with low vaccine uptake based on deprivation status: a systematic review 

    Vukovic V; Lillini R; Lupi S; Fortunato F; Cicconi M; Matteo G; Arata L; Amicizia D; Boccalini S; Bechini A; Prato R; Stefanati A; Panatto D; De Waure C (2020)
    A total of 1474 articles were identified and 12 were eventually included in the final review. Studies were mostly cross-sectional, performed in European countries, from 2004 to 2017. Seven studies focussed on deprivation ...
  • Serum uric acid and left ventricular geometry pattern in obese children 

    Bjelakovic B; Stefanutti C; Bonic D; Vukovic V; Kavaric N; Saranac L; Kocic G; Klisic A; Jevtović Stojmenov T; Lukic S; Jovic M; Bjelakovic M (2019)
    BACKGROUND: Relative importance of traditional and non-traditional components of metabolic syndrome (MetSy) as risk factors for subclinical target organ damage in obese children is still under investigation. Recent studies ...
  • KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern 

    Teumer A; Trenkwalder T; Kessler T; Jamshidi Y; van den Berg ME; Kaess B; Nelson CP; Bastiaenen R; De Bortoli M; Rossini A; Deisenhofer I; Stark K; Assa S; Braund PS; Cabrera C; Dominiczak AF; Gögele M; Hall LM; Ikram MA; Kavousi M; Lackner KJ; Müller C; Münzel T; Nauck M; Padmanabhan S; Pfeiffer N; Spector TD; Uitterlinden AG; Verweij N; Völker U; Warren HR; Zafar M; Felix SB; Kors JA; Snieder H; Munroe PB; Pattaro C; Fuchsberger C; Schmidt G; Nolte IM; Schunkert H; Pramstaller P; Wild PS; van der Harst P; Stricker BH; Schnabel RB; Samani NJ; Hengstenberg C; Dörr M; Behr ER; Reinhard W (2019)
    BACKGROUND The presence of an early repolarization pattern (ERP) on the surface ECG is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable ...
  • Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program 

    Hellwege JN; Velez Edwards DR; Giri A; Qiu C; Park J; Torstenson ES; Keaton JM; Wilson OD; Robinson-Cohen C; Chung CP; Roumie CL; Klarin D; Damrauer SM; DuVall SL; Siew E; Akwo EA; Wuttke M; Gorski M; Li M; Li Y; Gaziano JM; Wilson PWF; Tsao PS; O'Donnell CJ; Kovesdy CP; Pattaro C; Köttgen A; Susztak K; Edwards TL; Hung AM (2019)
    Chronic kidney disease (CKD), defined by low estimated glomerular filtration rate (eGFR), contributes to global morbidity and mortality. Here we conduct a transethnic Genome-Wide Association Study of eGFR in 280,722 ...
  • Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria 

    Teumer A; Li Y; Ghasemi S; Prins BP; Wuttke M; Hermle T; Giri A; Sieber KB; Qiu C; Kirsten H; Tin A; Chu AY; Bansal N; Feitosa MF; Wang L; Chai JF; Cocca M; Fuchsberger C; Gorski M; Hoppmann A; Horn K; Li M; Marten J; Noce D; Nutile T; Sedaghat S; Sveinbjornsson G; Tayo BO; van der Most PJ; Xu Y; Yu Z; Gerstner L; Ärnlöv J; Bakker SJL; Baptista D; Biggs ML; Boerwinkle E; Brenner H; Burkhardt R; Carroll RJ; Chee ML; Chen M; Cheng CY; Cook JP; Coresh J; Corre T; Danesh J; de Borst MH; De Grandi A; de Mutsert R; de Vries APJ; Degenhardt F; Dittrich K; Divers J; Eckardt KU; Ehret G; Endlich K; Felix JF; Franco OH; Franke A; Freedman BI; Freitag-Wolf S; Gansevoort RT; Giedraitis V; Gögele M; Grundner-Culemann F; Gudbjartsson DF; Gudnason V; Hamet P; Harris TB; Hicks AA; Holm H; Foo VHX; Hwang SJ; Ikram MA; Ingelsson E; Jaddoe VWV; Jakobsdottir J; Josyula NS; Jung B; Kähönen M; Khor CC; Kiess W; Koenig W; Körner A; Kovacs P; Kramer H; Krämer BK; Kronenberg F; Lange LA; Langefeld CD; Lee JJ; Lehtimäki T; Lieb W; Lim SC; Lind L; Lindgren CM; Liu J; Loeffler M; Lyytikäinen LP; Mahajan A; Maranville JC; Mascalzoni D; McMullen B; Meisinger C; Meitinger T; Miliku K; Mook-Kanamori DO; Müller-Nurasyid M; Mychaleckyj JC; Nauck M; Nikus K; Ning B; Noordam R; Connell JO; Olafsson I; Palmer ND; Peters A; Podgornaia AI; Ponte B; Poulain T; Pramstaller PP; Rabelink TJ; Raffield LM; Reilly DF; Rettig R; Rheinberger M; Rice KM; Rivadeneira F; Runz H; Ryan KA; Sabanayagam C; Saum KU; Schöttker B; Shaffer CM; Shi Y; Smith AV; Strauch K; Stumvoll M; Sun BB; Szymczak S; Tai ES; Tan NYQ; Taylor KD; Teren A; Tham YC; Thiery J; Thio CHL; Thomsen H; Thorsteinsdottir U; Tönjes A; Tremblay J; Uitterlinden AG; van der Harst P; Verweij N; Vogelezang S; Völker U; Waldenberger M; Wang C; Wilson OD; Wong C; Wong TY; Yang Q; Yasuda M; Akilesh S; Bochud M; Böger CA; Devuyst O; Edwards TL; Ho K; Morris AP; Parsa A; Pendergrass SA; Psaty BM; Rotter JI; Stefansson K; Wilson JG; Susztak K; Snieder H; Heid IM; Scholz M; Butterworth AS; Hung AM; Pattaro C; Köttgen A (2019)
    Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we ...
  • Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations 

    De Grandi A; Franzini M; Rosipal Š; Rosipal R; Debreova M; Corti A; Ruetzler-Dichtl E; Scholl-Bürgi S; Paolicchi A; Pompella A; Emdin M; Zampa G; Witt H; Zoller H; Tilg H; Mayatepek E; Herebian D; Pramstaller PP; Müller T; Janecke AR. (2019)
  • Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals 

    Noordam R; Young WJ; Salman R; Kanters JK; van den Berg ME; van Heemst D; Lin HJ; Barreto SM; Biggs ML; Biino G; Catamo E; Concas MP; Ding J; Evans DS; Foco L; Grarup N; Lyytikäinen LP; Mangino M; Mei H; van der Most PJ; Müller-Nurasyid M; Nelson CP; Qian Y; Repetto L; Said MA; Shah N; Schramm K; Vidigal PG; Weiss S; Yao J; Zilhao NR; Brody JA; Braund PS; Brumat M; Campana E; Christofidou P; Caulfield MJ; De Grandi A; Dominiczak AF; Doney ASF; Eiriksdottir G; Ellervik C; Giatti L; Gögele M; Graff C; Guo X; van der Harst P; Joshi PK; Kähönen M; Kestenbaum B; Lima-Costa MF; Linneberg A; Maan AC; Meitinger T; Padmanabhan S; Pattaro C; Peters A; Petersmann A; Sever P; Sinner MF; Shen X; Stanton A; Strauch K; Soliman EZ; Tarasov KV; Taylor KD; Thio CHL; Uitterlinden AG; Vaccargiu S; Waldenberger M; Robino A; Correa A; Cucca F; Cummings SR; Dörr M; Girotto G; Gudnason V; Hansen T; Heckbert SR; Juhl CR; Kääb S; Lehtimäki T; Liu Y; Lotufo PA; Palmer CNA; Pirastu M; Pramstaller PP; Ribeiro ALP; Rotter JI; Samani NJ; Snieder H; Spector TD; Stricker BH; Verweij N; Wilson JF; Wilson JG; Jukema JW; Tinker A; Newton-Cheh CH; Sotoodehnia N; Mook-Kanamori DO; Munroe PB; Warren HR (2019)
    BACKGROUND: Subclinical changes on the electrocardiogram are risk factors for cardiovascular mortality. Recognition and knowledge of electrolyte associations in cardiac electrophysiology are based on only in vitro models ...
  • Association of Chromosome 9p21 with subsequent Coronary Heart Disease Events 

    Patel RS; Schmidt AF; Tragante V; McCubrey RO; Holmes MV; Howe LJ; Direk K; Åkerblom A; Leander K; Virani SS; Kaminski KA; Muehlschlegel JD; Dubé MP; Allayee H; Almgren P; Alver M; Baranova EV; Behlouli H; Boeckx B; Braund PS; Breitling LP; Delgado G; Duarte NE; Dufresne L; Eriksson N; Foco L; Gijsberts CM; Gong Y; Hartiala J; Heydarpour M; Hubacek JA; Kleber M; Kofink D; Kuukasjärvi P; Lee VV; Leiherer A; Lenzini PA; Levin D; Lyytikäinen LP; Martinelli N; Mons U; Nelson CP; Nikus K; Pilbrow AP; Ploski R; Sun YV; Tanck MWT; Tang WHW; Trompet S; van der Laan SW; van Setten J; Vilmundarson RO; Viviani Anselmi C; Vlachopoulou E; Boerwinkle E; Briguori C; Carlquist JF; Carruthers KF; Casu G; Deanfield J; Deloukas P; Dudbridge F; Fitzpatrick N; Gigante B; James S; Lokki ML; Lotufo PA; Marziliano N; Mordi IR; Muhlestein JB; Newton Cheh C; Pitha J; Saely CH; Samman-Tahhan A; Sandesara PB; Teren A; Timmis A; Van de Werf F; Wauters E; Wilde AAM; Ford I; Stott DJ; Algra A; Andreassi MG; Ardissino D; Arsenault BJ; Ballantyne CM; Bergmeijer TO; Bezzina CR; Body SC; Bogaty P; de Borst GJ; Brenner H; Burkhardt R; Carpeggiani C; Condorelli G; Cooper-DeHoff RM; Cresci S; de Faire U; Doughty RN; Drexel H; Engert JC; Fox KAA; Girelli D; Hagström E; Hazen SL; Held C; Hemingway H; Hoefer IE; Hovingh GK; Johnson JA; de Jong PA; Jukema JW; Kaczor MP; Kähönen M; Kettner J; Kiliszek M; Klungel OH; Lagerqvist B; Lambrechts D; Laurikka JO; Lehtimäki T; Lindholm D; Mahmoodi BK; Maitland-van der Zee AH; McPherson R; Melander O; Metspalu A; Pepinski W; Olivieri O; Opolski G; Palmer CN; Pasterkamp G; Pepine CJ; Pereira AC; Pilote L; Quyyumi AA; Richards AM; Sanak M; Scholz M; Siegbahn A; Sinisalo J; Smith JG; Spertus JA; Stewart AFR; Szczeklik W; Szpakowicz A; Ten Berg JM; Thanassoulis G; Thiery J; van der Graaf Y; Visseren FLJ; Waltenberger J; CARDIoGRAMPlusC4D Consortium; Van der Harst P; Tardif JC; Sattar N; Lang CC; Pare G; Brophy JM; Anderson JL; März W; Wallentin L; Cameron VA; Horne BD; Samani NJ; Hingorani AD; Asselbergs FW (2019)
    BACKGROUND: Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value ...
  • Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels 

    Tin A; Marten J; Halperin Kuhns VL; Li Y; Wuttke M; Kirsten H; Sieber KB; Qiu C; Gorski M; Yu Z; Giri A; Sveinbjornsson G; Li M; Chu AY; Hoppmann A; O'Connor LJ; Prins B; Nutile T; Noce D; Akiyama M; Cocca M; Ghasemi S; van der Most PJ; Horn K; Xu Y; Fuchsberger C; Sedaghat S; Afaq S; Amin N; Ärnlöv J; Bakker SJL; Bansal N; Baptista D; Bergmann S; Biggs ML; Biino G; Boerwinkle E; Bottinger EP; Boutin TS; Brumat M; Burkhardt R; Campana E; Campbell A; Campbell H; Carroll RJ; Catamo E; Chambers JC; Ciullo M; Concas MP; Coresh J; Corre T; Cusi D; Felicita SC; de Borst MH; De Grandi A; de Mutsert R; de Vries APJ; Delgado G; Demirkan A; Devuyst O; Dittrich K; Eckardt KU; Ehret G; Endlich K; Evans MK; Gansevoort RT; Gasparini P; Giedraitis V; Gieger C; Girotto G; Gögele M; Gordon SD; Gudbjartsson DF; Gudnason V; Haller T; Hamet P; Harris TB; Hayward C; Hicks AA; Hofer E; Holm H; Huang W; Hutri-Kähönen N; Hwang SJ; Ikram MA; Lewis RM; Ingelsson E; Jakobsdottir J; Jonsdottir I; Jonsson H; Joshi PK; Josyula NS; Jung B; Kähönen M; Kamatani Y; Kanai M; Kerr SM; Kiess W; Kleber ME; Koenig W; Kooner JS; Körner A; Kovacs P; Krämer BK; Kronenberg F; Kubo M; Kühnel B; La Bianca M; Lange LA; Lehne B; Lehtimäki T; Liu J; Loeffler M; Loos RJF; Lyytikäinen LP; Magi R; Mahajan A; Martin NG; März W; Mascalzoni D; Matsuda K; Meisinger C; Meitinger T; Metspalu A; Milaneschi Y; O'Donnell CJ; Wilson OD; Gaziano JM; Mishra PP; Mohlke KL; Mononen N; Montgomery GW; Mook-Kanamori DO; Müller-Nurasyid M; Nadkarni GN; Nalls MA; Nauck M; Nikus K; Ning B; Nolte IM; Noordam R; O'Connell JR; Olafsson I; Padmanabhan S; Penninx BWJH; Perls T; Peters A; Pirastu M; Pirastu N; Pistis G; Polasek O; Ponte B; Porteous DJ; Poulain T; Preuss MH; Rabelink TJ; Raffield LM; Raitakari OT; Rettig R; Rheinberger M; Rice KM; Rizzi F; Robino A; Rudan I; Krajcoviechova A; Cifkova R; Rueedi R; Ruggiero D; Ryan KA; Saba Y; Salvi E; Schmidt H; Schmidt R; Shaffer CM; Smith AV; Smith BH; Spracklen CN; Strauch K; Stumvoll M; Sulem P; Tajuddin SM; Teren A; Thiery J; Thio CHL; Thorsteinsdottir U; Toniolo D; Tönjes A; Tremblay J; Uitterlinden AG; Vaccargiu S; van der Harst P; van Duijn CM; Verweij N; Völker U; Vollenweider P; Waeber G; Waldenberger M; Whitfield JB; Wild SH; Wilson JF; Yang Q; Zhang W; Zonderman AB; Bochud M; Wilson JG; Pendergrass SA; Ho K; Parsa A; Pramstaller PP; Psaty BM; Böger CA; Snieder H; Butterworth AS; Okada Y; Edwards TL; Stefansson K; Susztak K; Scholz M; Heid IM; Hung AM; Teumer A; Pattaro C; Woodward OM; Vitart V; Köttgen A (2019)
    Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, ...
  • Subsequent Event Risk in Individuals with Established Coronary Heart Disease 

    Patel RS; Tragante V; Schmidt AF; McCubrey RO; Holmes MV; Howe LJ; Direk K; Åkerblom A; Leander K; Virani SS; Kaminski KA; Muehlschlegel JD; Allayee H; Almgren P; Alver M; Baranova EV; Behloui H; Boeckx B; Braund PS; Breitling LP; Delgado G; Duarte NE; Dubé MP; Dufresne L; Eriksson N; Foco L; Scholz M; Gijsberts CM; Glinge C; Gong Y; Hartiala J; Heydarpour M; Hubacek JA; Kleber M; Kofink D; Kotti S; Kuukasjärvi P; Lee VV; Leiherer A; Lenzini PA; Levin D; Lyytikäinen LP; Martinelli N; Mons U; Nelson CP; Nikus K; Pilbrow AP; Ploski R; Sun YV; Tanck MWT; Tang WHW; Trompet S; van der Laan SW; Van Setten J; Vilmundarson RO; Viviani Anselmi C; Vlachopoulou E; Al Ali L; Boerwinkle E; Briguori C; Carlquist JF; Carruthers KF; Casu G; Deanfield J; Deloukas P; Dudbridge F; Engstrøm T; Fitzpatrick N; Fox K; Gigante B; James S; Lokki ML; Lotufo PA; Marziliano N; Mordi IR; Muhlestein JB; Newton-Cheh C; Pitha J; Saely CH; Samman-Tahhan A; Sandesara PB; Teren A; Timmis A; Van de Werf F; Wauters E; Wilde AAM; Ford I; Stott DJ; Algra A; Andreassi MG; Ardissino D; Arsenault BJ; Ballantyne CM; Bergmeijer TO; Bezzina CR; Body SC; Boersma EH; Bogaty P; Bots ML; Brenner H; Brugts JJ; Burkhardt R; Carpeggiani C; Condorelli G; Cooper-DeHoff RM; Cresci S; Danchin N; de Faire U; Doughty RN; Drexel H; Engert JC; Fox KAA; Girelli D; Grobbee DE; Hagström E; Hazen SL; Held C; Hemingway H; Hoefer IE; Hovingh GK; Jabbari R; Johnson JA; Jukema JW; Kaczor MP; Kähönen M; Kettner J; Kiliszek M; Klungel OH; Lagerqvist B; Lambrechts D; Laurikka JO; Lehtimäki T; Lindholm D; Mahmoodi BK; Maitland-van der Zee AH; McPherson R; Melander O; Metspalu A; Niemcunowicz-Janica A; Olivieri O; Opolski G; Palmer CN; Pasterkamp G; Pepine CJ; Pereira AC; Pilote L; Quyyumi AA; Richards AM; Sanak M; Siegbahn A; Simon T; Sinisalo J; Smith JG; Spertus JA; Stender S; Stewart AFR; Szczeklik W; Szpakowicz A; Tardif JC; Ten Berg JM; Tfelt-Hansen J; Thanassoulis G; Thiery J; Torp-Pedersen C; van der Graaf Y; Visseren FLJ; Waltenberger J; Weeke PE; Van der Harst P; Lang CC; Sattar N; Cameron VA; Anderson JL; Brophy JM; Pare G; Horne BD; März W; Wallentin L; Samani NJ; Hingorani AD; Asselbergs FW (2019)
    BACKGROUND: The Genetics of Subsequent Coronary Heart Disease (GENIUS-CHD) consortium was established to facilitate discovery and validation of genetic variants and biomarkers for risk of subsequent CHD events, in individuals ...
  • Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls 

    Flannick J; Mercader JM; Fuchsberger C; Udler MS; Mahajan A; Wessel J; Teslovich TM; Caulkins L; Koesterer R; Barajas-Olmos F; Blackwell TW; Boerwinkle E; Brody JA; Centeno-Cruz F; Chen L; Chen S; Contreras-Cubas C; Córdova E; Correa A; Cortes M; DeFronzo RA; Dolan L; Drews KL; Elliott A; Floyd JS; Gabriel S; Garay-Sevilla ME; García-Ortiz H; Gross M; Han S; Heard-Costa NL; Jackson AU; Jørgensen ME; Kang HM; Kelsey M; Kim BJ; Koistinen HA; Kuusisto J; Leader JB; Linneberg A; Liu CT; Liu J; Lyssenko V; Manning AK; Marcketta A; Malacara-Hernandez JM; Martínez-Hernández A; Matsuo K; Mayer-Davis E; Mendoza-Caamal E; Mohlke KL; Morrison AC; Ndungu A; Ng MCY; O'Dushlaine C; Payne AJ; Pihoker C; Broad Genomics Platform; Post WS; Preuss M; Psaty BM; Vasan RS; Rayner NW; Reiner AP; Revilla-Monsalve C; Robertson NR; Santoro N; Schurmann C; So WY; Soberón X; Stringham HM; Strom TM; Tam CHT; Thameem F; Tomlinson B; Torres JM; Tracy RP; van Dam RM; Vujkovic M; Wang S; Welch RP; Witte DR; Wong TY; Atzmon G; Barzilai N; Blangero J; Bonnycastle LL; Bowden DW; Chambers JC; Chan E; Cheng CY; Cho YS; Collins FS; de Vries PS; Duggirala R; Glaser B; Gonzalez C; Gonzalez ME; Groop L; Kooner JS; Kwak SH; Laakso M; Lehman DM; Nilsson P; Spector TD; Tai ES; Tuomi T; Tuomilehto J; Wilson JG; Aguilar-Salinas CA; Bottinger E; Burke B; Carey DJ; Chan JCN; Dupuis J; Frossard P; Heckbert SR; Hwang MY; Kim YJ; Kirchner HL; Lee JY; Lee J; Loos RJF; Ma RCW; Morris AD; O'Donnell CJ; Palmer CNA; Pankow J; Park KS; Rasheed A; Saleheen D; Sim X; Small KS; Teo YY; Haiman C; Hanis CL; Henderson BE; Orozco L; Tusié-Luna T; Dewey FE; Baras A; Gieger C; Meitinger T; Strauch K; Lange L; Grarup N; Hansen T; Pedersen O; Zeitler P; Dabelea D; Abecasis G; Bell GI; Cox NJ; Seielstad M; Sladek R; Meigs JB; Rich SS; Rotter JI; DiscovEHR Collaboration; CHARGE; LuCamp; ProDiGY; GoT2D; ESP; SIGMA-T2D; T2D-GENES; AMP-T2D-GENES; Altshuler D; Burtt NP; Scott LJ; Morris AP; Florez JC; McCarthy MI; Boehnke M (2019)
    Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic ...
  • The metaRbolomics Toolbox in Bioconductor and beyond 

    Stanstrup J; Broeckling CD; Helmus R; Hoffmann N; Mathe E; Naake T; Nicolotti L; Peters K; Rainer J; Salek RM; Schulze T; Schymanski EL; Stravs MA; Thevenot EA; Treutler H; Weber RJM; Willighagen E; Witting M; Neumann S (2019)
    Metabolomics aims to measure and characterise the complex composition of metabolites in a biological system. Metabolomics studies involve sophisticated analytical techniques such as mass spectrometry and nuclear magnetic ...
  • Microbiota, type 2 diabetes and non-alcoholic fatty liver disease: protocol of an observational study 

    Motta BM; Grander C; Gögele M; Foco L; Vukovic V; Melotti R; Fuchsberger C; De Grandi A; Cantaloni C; Picard A; Mascalzoni D; Rossini A; Pattaro C; Tilg H; Pramstaller PP (2019)
    BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is characterized by triglyceride accumulation in the hepatocytes in the absence of alcohol overconsumption, commonly associated with insulin resistance and obesity. ...
  • Effects of smoking status, history and intensity on heart rate variability in the general population: The CHRIS study 

    Murgia F; Melotti R; Foco L; Gögele M; Meraviglia V; Motta B; Steger A; Toifl M; Sinnecker D; Müller A; Merati G; Schmidt G; Rossini A; Pramstaller PP; Pattaro C (2019)
    BACKGROUND: Heart rate variability (HRV) reflects the autonomous nervous system modulation on heart rate and is associated with several pathologies, including cardiac mortality. While mechanistic studies show that smoking ...
  • Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKN gene. 

    Zanon A; Riekschnitz D; von Troyer M; Volpato C; Picard A; Cantaloni C; Di Segni M; Silipigni R; Pramstaller PP; Hicks AA; Pichler I (2019)
    Mutations in the PRKN gene, encoding parkin, are the most frequent known cause of recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a homozygous ...

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