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Year Number of Results
2007 1
2008 1
2009 1
2010 1
2012 1
2013 1
2014 4
2015 2
2016 6
2017 6
2018 7
2019 9
2020 2
2021 12
2022 11
2023 5
2024 1

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63 results

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Page 1
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
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, 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, H… See abstract for full author list ➔ Wuttke M, et al. Among authors: mascalzoni d. Nat Genet. 2019 Jun;51(6):957-972. doi: 10.1038/s41588-019-0407-x. Epub 2019 May 31. Nat Genet. 2019. PMID: 31152163 Free PMC article.
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; German Chronic Kidney Disease Study; 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, Kü… See abstract for full author list ➔ Tin A, et al. Among authors: mascalzoni d. Nat Genet. 2019 Oct;51(10):1459-1474. doi: 10.1038/s41588-019-0504-x. Epub 2019 Oct 2. Nat Genet. 2019. PMID: 31578528 Free PMC article.
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, S… See abstract for full author list ➔ Teumer A, et al. Among authors: mascalzoni d. Nat Commun. 2018 Oct 26;9(1):4455. doi: 10.1038/s41467-018-06356-1. Nat Commun. 2018. PMID: 30367059 Free PMC article.
Genetic Testing in Parkinson's Disease.
Pal G, Cook L, Schulze J, Verbrugge J, Alcalay RN, Merello M, Sue CM, Bardien S, Bonifati V, Chung SJ, Foroud T, Gatto E, Hall A, Hattori N, Lynch T, Marder K, Mascalzoni D, Novaković I, Thaler A, Raymond D, Salari M, Shalash A, Suchowersky O, Mencacci NE, Simuni T, Saunders-Pullman R, Klein C. Pal G, et al. Among authors: mascalzoni d. Mov Disord. 2023 Aug;38(8):1384-1396. doi: 10.1002/mds.29500. Epub 2023 Jun 27. Mov Disord. 2023. PMID: 37365908 Free PMC article.
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.
Winkler TW, Rasheed H, Teumer A, Gorski M, Rowan BX, Stanzick KJ, Thomas LF, Tin A, Hoppmann A, Chu AY, Tayo B, Thio CHL, Cusi D, Chai JF, Sieber KB, Horn K, Li M, Scholz M, Cocca M, Wuttke M, van der Most PJ, Yang Q, Ghasemi S, Nutile T, Li Y, Pontali G, Günther F, Dehghan A, Correa A, Parsa A, Feresin A, de Vries APJ, Zonderman AB, Smith AV, Oldehinkel AJ, De Grandi A, Rosenkranz AR, Franke A, Teren A, Metspalu A, Hicks AA, Morris AP, Tönjes A, Morgan A, Podgornaia AI, Peters A, Körner A, Mahajan A, Campbell A, Freedman BI, Spedicati B, Ponte B, Schöttker B, Brumpton B, Banas B, Krämer BK, Jung B, Åsvold BO, Smith BH, Ning B, Penninx BWJH, Vanderwerff BR, Psaty BM, Kammerer CM, Langefeld CD, Hayward C, Spracklen CN, Robinson-Cohen C, Hartman CA, Lindgren CM, Wang C, Sabanayagam C, Heng CK, Lanzani C, Khor CC, Cheng CY, Fuchsberger C, Gieger C, Shaffer CM, Schulz CA, Willer CJ, Chasman DI, Gudbjartsson DF, Ruggiero D, Toniolo D, Czamara D, Porteous DJ, Waterworth DM, Mascalzoni D, Mook-Kanamori DO, Reilly DF, Daw EW, Hofer E, Boerwinkle E, Salvi E, Bottinger EP, Tai ES, Catamo E, Rizzi F, Guo F, Rivadeneira F, Guilianini F, Sveinbjornsson G, Ehret G, Waeber G, Biino G, Gir… See abstract for full author list ➔ Winkler TW, et al. Among authors: mascalzoni d. Commun Biol. 2022 Jun 13;5(1):580. doi: 10.1038/s42003-022-03448-z. Commun Biol. 2022. PMID: 35697829 Free PMC article.
The case for open science: rare diseases.
Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA. Rubinstein YR, et al. Among authors: mascalzoni d. JAMIA Open. 2020 Sep 11;3(3):472-486. doi: 10.1093/jamiaopen/ooaa030. eCollection 2020 Oct. JAMIA Open. 2020. PMID: 33426479 Free PMC article. Review.
International Genetic Testing and Counseling Practices for Parkinson's Disease.
Saunders-Pullman R, Raymond D, Ortega RA, Shalash A, Gatto E, Salari M, Markgraf M, Alcalay RN, Mascalzoni D, Mencacci NE, Bonifati V, Merello M, Chung SJ, Novakovic I, Bardien S, Pal G, Hall A, Hattori N, Lynch T, Thaler A, Sue CM, Foroud T, Verbrugge J, Schulze J, Cook L, Marder K, Suchowersky O, Klein C, Simuni T. Saunders-Pullman R, et al. Among authors: mascalzoni d. Mov Disord. 2023 Aug;38(8):1527-1535. doi: 10.1002/mds.29442. Epub 2023 Jun 13. Mov Disord. 2023. PMID: 37310233
Recommendations for Improving the Quality of Rare Disease Registries.
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Kodra Y, et al. Among authors: mascalzoni d. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644. doi: 10.3390/ijerph15081644. Int J Environ Res Public Health. 2018. PMID: 30081484 Free PMC article.
The Role of Solidarity(-ies) in Rare Diseases Research.
Mascalzoni D, Petrini C, Taruscio D, Gainotti S. Mascalzoni D, et al. Adv Exp Med Biol. 2017;1031:589-604. doi: 10.1007/978-3-319-67144-4_31. Adv Exp Med Biol. 2017. PMID: 29214593 Review.
63 results