• Novel Missense Variant in MYL2 Gene Associated with Hypertrophic Cardiomyopathy showing High Incidence of Restrictive Physiology 

  De Bortoli M; Vio R; Basso C; Calore M; Minervini G; Angelini A; Melacini P; Vitiello L; Vazza G; Thiene G; Tosatto S; Corrado D; Iliceto S; Rampazzo A; Calore C (2020)
• Occurrence of metachronous second primary cancer in head and neck cancer survivors: A systematic review and meta-analysis of the literature 

  Hoxhaj I; Hysaj O; Vukovic V; Leoncini E; Amore R; Pastorino R; Boccia S (2020)

  OBJECTIVE: Head and neck cancer (HNC) is the sixth leading cancer worldwide with approximately 600,000 new cases per year. Several studies suggest that HNC survivors may have an increased risk of developing second primary ...
• Alginate Formulations: Current Developments in the Race for Hydrogel-Based Cardiac Regeneration 

  Cattelan G; Guerrero Gerbolés A; Foresti R; Pramstaller PP; Rossini A; Miragoli M; Caffarra Malvezzi C (2020)

  Cardiovascular diseases, including myocardial infarction (MI), represent the main worldwide cause of mortality and morbidity. In this scenario, to contrast the irreversible damages following MI, cardiac regeneration has ...
• EGFR Polymorphism and Survival of NSCLC Patients Treated with TKIs: A Systematic Review and Meta-Analysis 

  Jurisic V; Vukovic V; Obradovic J; Gulyaeva LF; Kushlinskii NE; Djordjević N (2020)

  Tyrosine kinase inhibitor- (TKI-) based therapy revolutionized the overall survival and the quality of life in non-small-cell lung cancer (NSCLC) patients that have epidermal growth factor receptor (EGFR) mutations. ...
• Lipid Profile and Left Ventricular Geometry Pattern in Obese Children 

  Bjelakovic B; Stefanutti C; Vukovic V; Kavaric N; Saranac L; Klisic A; Lukic S; Stankovic S; Jovic M; Prijic S; Bjelakovic M; Banach M (2020)

  Background: Left ventricular hypertrophy (LVH) is an important risk factor for cardiovascular and all-cause mortality. Previous studies reported conflicting results concerning the relationship between serum lipid levels ...
• The PPARGC1A locus and CNS-specific PGC-1 alpha isoforms are associated with Parkinson's Disease 

  Soyal SM; Zara G; Ferger B; Felder TK; Kwik M; Nofziger C; Dossena S; Schwienbacher C; Hicks AA; Pramstaller PP; Paulmichl M; Weis S; Patsch W (2019)

  Parkinson's disease (PD) is the second most common neurodegenerative disease worldwide. PGC-1α, encoded by PPARGC1A, is a transcriptional co-activator that has been implicated in the pathogenesis of neurodegenerative ...
• Application of CRISPR/Cas9 editing and digital droplet PCR in human iPSCs to generate novel knock-in reporter lines to visualize dopaminergic neurons 

  Überbacher C; Obergasteiger J; Volta M; Venezia S; Müller S; Pesce I; Pizzi S; Lamonaca G; Picard A; Cattelan G; Malpeli G; Zoli M; Beccano-Kelly D; Flynn R; Wade-Martins R; Pramstaller PP; Hicks AA; Cowley SA; Corti C (2019)

  Human induced pluripotent stem cells (hiPSCs) have become indispensable for disease modelling. They are an important resource to access patient cells harbouring disease-causing mutations. Derivation of midbrain dopaminergic ...
• Protection of Personal Information Act 2013 and data protection for health research in South Africa 

  Staunton C; Adams R; Anderson D; Croxton T; Kamuya D; Munene M; Swanepoel C (2020)

  The Protection of Personal Information Act (POPIA) [No.4 of 2013] is the first comprehensive data protection regulation to be passed in South Africa and it gives effect to the right to informational privacy derived from ...
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  Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation 

  Teumer A; Chaker L; Groeneweg S; Li Y; Di Munno C; Barbieri C; Schultheiss UT; Traglia M; Ahluwalia TS; Akiyama M; Appel EVR; Arking DE; Arnold A; Astrup A; Beekman M; Beilby JP; Bekaert S; Boerwinkle E; Brown SJ; De Buyzere M; Campbell PJ; Ceresini G; Cerqueira C; Cucca F; Deary IJ; Deelen J; Eckardt KU; Ekici AB; Eriksson JG; Ferrrucci L; Fiers T; Fiorillo E; Ford I; Fox CS; Fuchsberger C; Galesloot TE; Gieger C; Gögele M; De Grandi A; Grarup N; Greiser KH; Haljas K; Hansen T; Harris SE; van Heemst D; den Heijer M; Hicks AA; den Hollander W; Homuth G; Hui J; Ikram MA; Ittermann T; Jensen RA; Jing J; Jukema JW; Kajantie E; Kamatani Y; Kasbohm E; Kaufman JM; Kiemeney LA; Kloppenburg M; Kronenberg F; Kubo M; Lahti J; Lapauw B; Li S; Liewald DCM; Lifelines Cohort Study; Lim EM; Linneberg A; Marina M; Mascalzoni D; Matsuda K; Medenwald D; Meisinger C; Meulenbelt I; De Meyer T; Meyer Zu Schwabedissen HE; Mikolajczyk R; Moed M; Netea-Maier RT; Nolte IM; Okada Y; Pala M; Pattaro C; Pedersen O; Petersmann A; Porcu E; Postmus I; Pramstaller PP; Psaty BM; Ramos YFM; Rawal R; Redmond P; Richards JB; Rietzschel ER; Rivadeneira F; Roef G; Rotter JI; Sala CF; Schlessinger D; Selvin E; Slagboom PE; Soranzo N; Sørensen TIA; Spector TD; Starr JM; Stott DJ; Taes Y; Taliun D; Tanaka T; Thuesen B; Tiller D; Toniolo D; Uitterlinden AG; Visser WE; Walsh JP; Wilson SG; Wolffenbuttel BHR; Yang Q; Zheng HF; Cappola A; Peeters RP; Naitza S; Völzke H; Sanna S; Köttgen A; Visser TJ; Medici M (2018)

  Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only ...
• Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders 

  Ligthart S; Vaez A; Võsa U; Stathopoulou MG; de Vries PS; Prins BP; Van der Most PJ; Tanaka T; Naderi E; Rose LM; Wu Y; Karlsson R; Barbalic M; Lin H; Pool R; Zhu G; Macé A; Sidore C; Trompet S; Mangino M; Sabater-Lleal M; Kemp JP; Abbasi A; Kacprowski T; Verweij N; Smith AV; Huang T; Marzi C; Feitosa MF; Lohman KK; Kleber ME; Milaneschi Y; Mueller C; Huq M; Vlachopoulou E; Lyytikäinen LP; Oldmeadow C; Deelen J; Perola M; Zhao JH; Feenstra B; LifeLines Cohort Study; Amini M; CHARGE Inflammation Working Group; Lahti J; Schraut KE; Fornage M; Suktitipat B; Chen WM; Li X; Nutile T; Malerba G; Luan J; Bak T; Schork N; Del Greco M F; Thiering E; Mahajan A; Marioni RE; Mihailov E; Eriksson J; Ozel AB; Zhang W; Nethander M; Cheng YC; Aslibekyan S; Ang W; Gandin I; Yengo L; Portas L; Kooperberg C; Hofer E; Rajan KB; Schurmann C; den Hollander W; Ahluwalia TS; Zhao J; Draisma HHM; Ford I; Timpson N; Teumer A; Huang H; Wahl S; Liu Y; Huang J; Uh HW; Geller F; Joshi PK; Yanek LR; Trabetti E; Lehne B; Vozzi D; Verbanck M; Biino G; Saba Y; Meulenbelt I; O'Connell JR; Laakso M; Giulianini F; Magnusson PKE; Ballantyne CM; Hottenga JJ; Montgomery GW; Rivadineira F; Rueedi R; Steri M; Herzig KH; Stott DJ; Menni C; Frånberg M; St Pourcain B; Felix SB; Pers TH; Bakker SJL; Kraft P; Peters A; Vaidya D; Delgado G; Smit JH; Großmann V; Sinisalo J; Seppälä I; Williams SR; Holliday EG; Moed M; Langenberg C; Räikkönen K; Ding J; Campbell H; Sale MM; Chen YI; James AL; Ruggiero D; Soranzo N; Hartman CA; Smith EN; Berenson GS; Fuchsberger C; Hernandez D; Tiesler CMT; Giedraitis V; Liewald D; Fischer K; Mellström D; Larsson A; Wang Y; Scott WR; Lorentzon M; Beilby J; Ryan KA; Pennell CE; Vuckovic D; Balkau B; Concas MP; Schmidt R; Mendes de Leon CF; Bottinger EP; Kloppenburg M; Paternoster L; Boehnke M; Musk AW; Willemsen G; Evans DM; Madden PAF; Kähönen M; Kutalik Z; Zoledziewska M; Karhunen V; Kritchevsky SB; Sattar N; Lachance G; Clarke R; Harris TB; Raitakari OT; Attia JR; van Heemst D; Kajantie E; Sorice R; Gambaro G; Scott RA; Hicks AA; Ferrucci L; Standl M; Lindgren CM; Starr JM; Karlsson M; Lind L; Li JZ; Chambers JC; Mori TA; de Geus EJCN; Heath AC; Martin NG; Auvinen J; Buckley BM; de Craen AJM; Waldenberger M; Strauch K; Meitinger T; Scott RJ; McEvoy M; Beekman M; Bombieri C; Ridker PM; Mohlke KL; Pedersen NL; Morrison AC; Boomsma DI; Whitfield JB; Strachan DP; Hofman A; Vollenweider P; Cucca F; Jarvelin MR; Jukema JW; Spector TD; Hamsten A; Zeller T; Uitterlinden AG; Nauck M; Gudnason V; Qi L; Grallert H; Borecki IB; Rotter JI; März W; Wild PS; Lokki ML; Boyle M; Salomaa V; Melbye M; Eriksson JG; Wilson JF; Penninx BWJH; Becker DM; Worrall BB; Gibson G; Krauss RM; Ciullo M; Zaza G; Wareham NJ; Oldehinkel AJ; Palmer LJ; Murray SS; Pramstaller PP; Bandinelli S; Heinrich J; Ingelsson E; Deary IJ; Mägi R; Vandenput L; van der Harst P; Desch KC; Kooner JS; Ohlsson C; Hayward C; Lehtimäki T; Shuldiner AR; Arnett DK; Beilin LJ; Robino A; Froguel P; Pirastu M; Jess T; Koenig W; Loos RJF; Evans DA; Schmidt H; Smith GD; Slagboom PE; Eiriksdottir G; Morris AP; Psaty BM; Tracy RP; Nolte IM; Boerwinkle E; Visvikis-Siest S; Reiner AP; Gross M; Bis JC; Franke L; Franco OH; Benjamin EJ; Chasman DI; Dupuis J; Snieder H; Dehghan A; Alizadeh BZ (2018)

  C-reactive protein (CRP) is a sensitive biomarker of chronic low-grade inflammation and is associated with multiple complex diseases. The genetic determinants of chronic inflammation remain largely unknown, and the causal ...
• Institutional inertia: Challenges in urban water management on the path towards a water-sensitive Surabaya, Indonesia 

  Kösters M; Bichai F; Schwartz K (2020)

  Traditional approaches to urban water management are increasingly questioned. To understand whether the alternative Water Sensitive City (WSC) paradigm is applicable in Surabaya, Indonesia, its water governance system was ...
• The CKDGen Consortium: ten years of insights into the genetic basis of kidney function 

  Köttgen A; Pattaro C (2020)
• A catalog of genetic loci associated with kidney function from analyses of a million individuals 

  Wuttke M; Li Y; Li M; Sieber KB; Feitosa MF; Gorski M; Tin A; Wang L; Chu AY; Hoppmann A; Kirsten H; Giri A; Chai JF; Sveinbjornsson G; Tayo BO; Nutile T; Fuchsberger C; Marten J; Cocca M; Ghasemi S; Xu Y; Horn K; Noce D; van der Most PJ; Sedaghat S; Yu Z; Akiyama M; Afaq S; Ahluwalia TS; Almgren P; Amin N; Ärnlöv J; Bakker SJL; Bansal N; Baptista D; Bergmann S; Biggs ML; Biino G; Boehnke M; Boerwinkle E; Boissel M; Bottinger EP; Boutin TS; Brenner H; Brumat M; Burkhardt R; Butterworth AS; Campana E; Campbell A; Campbell H; Canouil M; Carroll RJ; Catamo E; Chambers JC; Chee ML; Chen X; Cheng CY; Cheng Y; Christensen K; Cifkova R; Ciullo M; Concas MP; Cook JP; Coresh J; Corre T; Sala CF; Cusi D; Danesh J; Daw EW; de Borst MH; De Grandi A; de Mutsert R; de Vries APJ; Degenhardt F; Delgado G; Demirkan A; Di Angelantonio E; Dittrich K; Divers J; Dorajoo R; Eckardt KU; Ehret G; Elliott P; Endlich K; Evans MK; Felix JF; Foo VHX; Franco OH; Franke A; Freedman BI; Freitag-Wolf S; Friedlander Y; Froguel P; Gansevoort RT; Gao H; Gasparini P; Gaziano JM; Giedraitis V; Gieger C; Girotto G; Giulianini F; Gögele M; Gordon SD; Gudbjartsson DF; Gudnason V; Haller T; Hamet P; Harris TB; Hartman CA; Hayward C; Hellwege JN; Heng CK; Hicks AA; Hofer E; Huang W; Hutri-Kähönen N; Hwang SJ; Ikram MA; Indridason OS; Ingelsson E; Ising M; Jaddoe VWV; Jakobsdottir J; Jonas JB; Joshi PK; Josyula NS; Jung B; Kähönen M; Kamatani Y; Kammerer CM; Kanai M; Kastarinen M; Kerr SM; Khor CC; Kiess W; Kleber ME; Koenig W; Kooner JS; Körner A; Kovacs P; Kraja AT; Krajcoviechova A; Kramer H; Krämer BK; Kronenberg F; Kubo M; Kühnel B; Kuokkanen M; Kuusisto J; La Bianca M; Laakso M; Lange LA; Langefeld CD; Lee JJ; Lehne B; Lehtimäki T; Lieb W; Lim SC; Lind L; Lindgren CM; Liu J; Loeffler M; Loos RJF; Lucae S; Lukas MA; Lyytikäinen LP; Mägi R; Magnusson PKE; Mahajan A; Martin NG; Martins J; März W; Mascalzoni D; Matsuda K; Meisinger C; Meitinger T; Melander O; Metspalu A; Mikaelsdottir EK; Milaneschi Y; Miliku K; Mishra PP; Mohlke KL; Mononen N; Montgomery GW; Mook-Kanamori DO; Mychaleckyj JC; Nadkarni GN; Nalls MA; Nauck M; Nikus K; Ning B; Nolte IM; Noordam R; O'Connell J; O'Donoghue ML; Olafsson I; Oldehinkel AJ; Orho-Melander M; Ouwehand WH; Padmanabhan S; Palmer ND; Palsson R; Penninx BWJH; Perls T; Perola M; Pirastu M; Pirastu N; Pistis G; Podgornaia AI; Polasek O; Ponte B; Porteous DJ; Poulain T; Pramstaller PP; Preuss MH; Prins BP; Province MA; Rabelink TJ; Raffield LM; Raitakari OT; Reilly DF; Rettig R; Rheinberger M; Rice KM; Ridker PM; Rivadeneira F; Rizzi F; Roberts DJ; Robino A; Rossing P; Rudan I; Rueedi R; Ruggiero D; Ryan KA; Saba Y; Sabanayagam C; Salomaa V; Salvi E; Saum KU; Schmidt H; Schmidt R; Schöttker B; Schulz CA; Schupf N; Shaffer CM; Shi Y; Smith AV; Smith BH; Soranzo N; Spracklen CN; Strauch K; Stringham HM; Stumvoll M; Svensson PO; Szymczak S; Tai ES; Tajuddin SM; Tan NYQ; Taylor KD; Teren A; Tham YC; Thiery J; Thio CHL; Thomsen H; Thorleifsson G; Toniolo D; Tönjes A; Tremblay J; Tzoulaki I; Uitterlinden AG; Vaccargiu S; van Dam RM; van der Harst P; van Duijn CM; Velez Edward DR; Verweij N; Vogelezang S; Völker U; Vollenweider P; Waeber G; Waldenberger M; Wallentin L; Wang YX; Wang C; Waterworth DM; Bin Wei W; White H; Whitfield JB; Wild SH; Wilson JF; Wojczynski MK; Wong C; Wong TY; Xu L; Yang Q; Yasuda M; Yerges-Armstrong LM; Zhang W; Zonderman AB; Rotter JI; Bochud M; Psaty BM; Vitart V; Wilson JG; Dehghan A; Parsa A; Chasman DI; Ho K; Morris AP; Devuyst O; Akilesh S; Pendergrass SA; Sim X; Böger CA; Okada Y; Edwards TL; Snieder H; Stefansson K; Hung AM; Heid IM; Scholz M; Teumer A; Köttgen A; Pattaro C (2019)

  Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate ...
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  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 ...
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  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 ...
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  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. ...
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  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 ...
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  Risky behaviors and Parkinson disease 

  Grover S; Lill CM; Kasten M; Klein C; Del Greco MF; König IR (2019)
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  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 ...

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