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. ...
  • Exome sequencing identifies novel rare variant association signals in the Cooperative Health Research in South Tyrol (CHRIS) study 

    Emmert DB; Mitchell J; König E; Gögele M; Pattaro C; Pramstaller PP; Fuchsberger C (2019)
    In: 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, JUN 15-18, 2019, Meeting Abstract: P18.78B, p. 1777
  • 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)
  • Presentazione dell'attività e della biobanca dell'Istituto di Biomedicina di Eurac Research 

    De Grandi A (2019)
    At: GENOMICA e RICERCA TRASLAZIONALE in ONCOLOGIA: Quali prospettive per il Trentino-Alto Adige ; Trento ;  18/05/2019
  • Planning and running a population study: the CHRIS study resource 

    Gögele M (2019)
    At: BIDOC PhD-Programme. Graduate Course. Population-based studies in the -omics era ; Bolzano ; 28/11/2019 - 29/11/2019
  • Are requirements to deposit data in research repositories compatible with the GDPR? 

    Mascalzoni D; Bentzen HB (2019)
    At: European Society of Human Genetics ; Gothenburg ; 15/06/2019 - 18/06/2019
  • Protection of Personal Information Act 2013 

    Staunton C (2019)
    At: The Governance of Data Sharing for Health Research in South Africa ; Johannesburg ; 03/07/2019
  • The Governance of Health Data in South Africa 

    Staunton C (2019)
    At: The governance of data sharing for genomic and other health related data in Africa ; Cape Town ; 04/02/2019 - 05/02/2019
  • Updates to xcms: simplified raw data access and enhanced MS level > 1 capabilities 

    Rainer J; Gatto L; Neumann S (2019)
    At: Metabolomics 2019 ; The Hague ; 23/06/2019 - 27/08/2019 ; The xcms Bioconductor package is one of the standard toolboxes for the preprocessing of untargeted metabolomics data. Here we present recent updates to xcms, ...
  • 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 ...
  • La biobanca CHRIS 

    De Grandi A (2019)
    At: Biobanche di popolazione e degli isolati: successi e frontiere dell’esposomica ; Roma ; 22/10/2019
  • 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)

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