Publications of the Institute for Biomedicine

Recent Submissions

  • Associations of autozygosity with a broad range of human phenotypes 

    Clark DW; Okada Y; Moore KHS; Mason D; Pirastu N; Gandin I; Mattsson H; Barnes CLK; Lin K; Zhao JH; Deelen P; Rohde R; Schurmann C; Guo X; Giulianini F; Zhang W; Medina-Gomez C; Karlsson R; Bao Y; Bartz TM; Baumbach C; Biino G; Bixley MJ; Brumat M; Chai JF; Corre T; Cousminer DL; Dekker AM; Eccles DA; van Eijk KR; Fuchsberger C; Gao H; Germain M; Gordon SD; de Haan HG; Harris SE; Hofer E; Huerta-Chagoya A; Igartua C; Jansen IE; Jia Y; Kacprowski T; Karlsson T; Kleber ME; Li SA; Li-Gao R; Mahajan A; Matsuda K; Meidtner K; Meng W; Montasser ME; van der Most PJ; Munz M; Nutile T; Palviainen T; Prasad G; Prasad RB; Priyanka TDS; Rizzi F; Salvi E; Sapkota BR; Shriner D; Skotte L; Smart MC; Smith AV; van der Spek A; Spracklen CN; Strawbridge RJ; Tajuddin SM; Trompet S; Turman C; Verweij N; Viberti C; Wang L; Warren HR; Wootton RE; Yanek LR; Yao J; Yousri NA; Zhao W; Adeyemo AA; Afaq S; Aguilar-Salinas CA; Akiyama M; Albert ML; Allison MA; Alver M; Aung T; Azizi F; Bentley AR; Boeing H; Boerwinkle E; Borja JB; de Borst GJ; Bottinger EP; Broer L; Campbell H; Chanock S; Chee ML; Chen G; Chen YI; Chen Z; Chiu YF; Cocca M; Collins FS; Concas MP; Corley J; Cugliari G; van Dam RM; Damulina A; Daneshpour MS; Day FR; Delgado GE; Dhana K; Doney ASF; Dörr M; Doumatey AP; Dzimiri N; Ebenesersdóttir SS; Elliott J; Elliott P; Ewert R; Felix JF; Fischer K; Freedman BI; Girotto G; Goel A; Gögele M; Goodarzi MO; Graff M; Granot-Hershkovitz E; Grodstein F; Guarrera S; Gudbjartsson DF; Guity K; Gunnarsson B; Guo Y; Hagenaars SP; Haiman CA; Halevy A; Harris TB; Hedayati M; van Heel DA; Hirata M; Höfer I; Hsiung CA; Huang J; Hung YJ; Ikram MA; Jagadeesan A; Jousilahti P; Kamatani Y; Kanai M; Kerrison ND; Kessler T; Khaw KT; Khor CC; de Kleijn DPV; Koh WP; Kolcic I; Kraft P; Krämer BK; Kutalik Z; Kuusisto J; Langenberg C; Launer LJ; Lawlor DA; Lee IT; Lee WJ; Lerch MM; Li L; Liu J; Loh M; London SJ; Loomis S; Lu Y; Luan J; Mägi R; Manichaikul AW; Manunta P; Másson G; Matoba N; Mei XW; Meisinger C; Meitinger T; Mezzavilla M; Milani L; Millwood IY; Momozawa Y; Moore A; Morange PE; Moreno-Macías H; Mori TA; Morrison AC; Muka T; Murakami Y; Murray AD; de Mutsert R; Mychaleckyj JC; Nalls MA; Nauck M; Neville MJ; Nolte IM; Ong KK; Orozco L; Padmanabhan S; Pálsson G; Pankow JS; Pattaro C; Pattie A; Polasek O; Poulter N; Pramstaller PP; Quintana-Murci L; Räikkönen K; Ralhan S; Rao DC; van Rheenen W; Rich SS; Ridker PM; Rietveld CA; Robino A; van Rooij FJA; Ruggiero D; Saba Y; Sabanayagam C; Sabater-Lleal M; Sala CF; Salomaa V; Sandow K; Schmidt H; Scott LJ; Scott WR; Sedaghati-Khayat B; Sennblad B; van Setten J; Sever PJ; Sheu WH; Shi Y; Shrestha S; Shukla SR; Sigurdsson JK; Sikka TT; Singh JR; Smith BH; Stančáková A; Stanton A; Starr JM; Stefansdottir L; Straker L; Sulem P; Sveinbjornsson G; Swertz MA; Taylor AM; Taylor KD; Terzikhan N; Tham YC; Thorleifsson G; Thorsteinsdottir U; Tillander A; Tracy RP; Tusié-Luna T; Tzoulaki I; Vaccargiu S; Vangipurapu J; Veldink JH; Vitart V; Völker U; Vuoksimaa E; Wakil SM; Waldenberger M; Wander GS; Wang YX; Wareham NJ; Wild S; Yajnik CS; Yuan JM; Zeng L; Zhang L; Zhou J; Amin N; Asselbergs FW; Bakker SJL; Becker DM; Lehne B; Bennett DA; van den Berg LH; Berndt SI; Bharadwaj D; Bielak LF; Bochud M; Boehnke M; Bouchard C; Bradfield JP; Brody JA; Campbell A; Carmi S; Caulfield MJ; Cesarini D; Chambers JC; Chandak GR; Cheng CY; Ciullo M; Cornelis M; Cusi D; Smith GD; Deary IJ; Dorajoo R; van Duijn CM; Ellinghaus D; Erdmann J; Eriksson JG; Evangelou E; Evans MK; Faul JD; Feenstra B; Feitosa M; Foisy S; Franke A; Friedlander Y; Gasparini P; Gieger C; Gonzalez C; Goyette P; Grant SFA; Griffiths LR; Groop L; Gudnason V; Gyllensten U; Hakonarson H; Hamsten A; van der Harst P; Heng CK; Hicks AA; Hochner H; Huikuri H; Hunt SC; Jaddoe VWV; De Jager PL; Johannesson M; Johansson Å; Jonas JB; Jukema JW; Junttila J; Kaprio J; Kardia SLR; Karpe F; Kumari M; Laakso M; van der Laan SW; Lahti J; Laudes M; Lea RA; Lieb W; Lumley T; Martin NG; März W; Matullo G; McCarthy MI; Medland SE; Merriman TR; Metspalu A; Meyer BF; Mohlke KL; Montgomery GW; Mook-Kanamori D; Munroe PB; North KE; Nyholt DR; O'connell JR; Ober C; Oldehinkel AJ; Palmas W; Palmer C; Pasterkamp GG; Patin E; Pennell CE; Perusse L; Peyser PA; Pirastu M; Polderman TJC; Porteous DJ; Posthuma D; Psaty BM; Rioux JD; Rivadeneira F; Rotimi C; Rotter JI; Rudan I; Den Ruijter HM; Sanghera DK; Sattar N; Schmidt R; Schulze MB; Schunkert H; Scott RA; Shuldiner AR; Sim X; Small N; Smith JA; Sotoodehnia N; Tai ES; Teumer A; Timpson NJ; Toniolo D; Tregouet DA; Tuomi T; Vollenweider P; Wang CA; Weir DR; Whitfield JB; Wijmenga C; Wong TY; Wright J; Yang J; Yu L; Zemel BS; Zonderman AB; Perola M; Magnusson PKE; Uitterlinden AG; Kooner JS; Chasman DI; Loos RJF; Franceschini N; Franke L; Haley CS; Hayward C; Walters RG; Perry JRB; Esko T; Helgason A; Stefansson K; Joshi PK; Kubo M; Wilson JF (2019)
    In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction ...

  • Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues 

    Gainotti S; Mascalzoni D; Bros-Facer V; Petrini C; Floridia G; Roos M; Salvatore M; Taruscio D (2018)
    The time required to reach a correct diagnosis is a key concern for rare disease (RD) patients. Diagnostic delay can be intolerably long, often described as an "odyssey" and, for some, a diagnosis may remain frustratingly ...

  • Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits 

    Raulerson CK; Ko A; Kidd JC; Currin KW; Brotman SM; Cannon ME; Wu Y; Spracklen CN; Jackson AU; Stringham HM; Welch RP; Fuchsberger C; Locke AE; Narisu N; Lusis AJ; Civelek M; Furey TS; Kuusisto J; Collins FS; Boehnke M; Scott LJ; Lin DY; Love MI; Laakso M; Pajukanta P; Mohlke KL (2019)
    Genome-wide association studies (GWASs) have identified thousands of genetic loci associated with cardiometabolic traits including type 2 diabetes (T2D), lipid levels, body fat distribution, and adiposity, although most ...

  • The Ethics of technologies with high socioeconomic impact and Human Rights relevance 

    Mascalzoni D; Howard H; Niemiec E (2019)
    At: SIENNA. Technology, ethica and human rights ; Gothenburg : 14.6.2019 - 15.6.2019

  • 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 ...

  • The impact of reference panel short-read sequencing inaccessibility on genotype imputation (P14.046B), in: Abstracts from the 51st European Society of Human Genetics Conference: Posters 

    Mitchell JS; König E; Gögele M; Pattaro C; Pramstaller PP; Fuchsberger C (2019)
    p. 514

  • 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 ...

  • Italian contribution to University Autonomy in Kazakhstan: the Erasmus+ project “Transition to University Autonomy in Kazakhstan” (TRUNAK) 

    Azzolini E; Ricciardi ML; Vukovic V; Ricciardi W; Boccia S; Bruno S (2019)

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