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Page 1
Copy Number Variation.
Macé A, Kutalik Z, Valsesia A. Macé A, et al. Methods Mol Biol. 2018;1793:231-258. doi: 10.1007/978-1-4939-7868-7_14. Methods Mol Biol. 2018. PMID: 29876900
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. Ligthart S, et al. Among authors: mace a. Am J Hum Genet. 2018 Nov 1;103(5):691-706. doi: 10.1016/j.ajhg.2018.09.009. Am J Hum Genet. 2018. PMID: 30388399 Free PMC article.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. Among authors: mace a. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.
Whole-genome and targeted sequencing of drug-resistant Mycobacterium tuberculosis on the iSeq100 and MiSeq: A performance, ease-of-use, and cost evaluation.
Colman RE, Mace A, Seifert M, Hetzel J, Mshaiel H, Suresh A, Lemmer D, Engelthaler DM, Catanzaro DG, Young AG, Denkinger CM, Rodwell TC. Colman RE, et al. Among authors: mace a. PLoS Med. 2019 Apr 30;16(4):e1002794. doi: 10.1371/journal.pmed.1002794. eCollection 2019 Apr. PLoS Med. 2019. PMID: 31039166 Free PMC article.
Novel lipoarabinomannan point-of-care tuberculosis test for people with HIV: a diagnostic accuracy study.
Broger T, Sossen B, du Toit E, Kerkhoff AD, Schutz C, Ivanova Reipold E, Ward A, Barr DA, Macé A, Trollip A, Burton R, Ongarello S, Pinter A, Lowary TL, Boehme C, Nicol MP, Meintjes G, Denkinger CM. Broger T, et al. Among authors: mace a. Lancet Infect Dis. 2019 Aug;19(8):852-861. doi: 10.1016/S1473-3099(19)30001-5. Epub 2019 May 30. Lancet Infect Dis. 2019. PMID: 31155318 Free PMC article.
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
O'Seaghdha CM, Wu H, Yang Q, Kapur K, Guessous I, Zuber AM, Köttgen A, Stoudmann C, Teumer A, Kutalik Z, Mangino M, Dehghan A, Zhang W, Eiriksdottir G, Li G, Tanaka T, Portas L, Lopez LM, Hayward C, Lohman K, Matsuda K, Padmanabhan S, Firsov D, Sorice R, Ulivi S, Brockhaus AC, Kleber ME, Mahajan A, Ernst FD, Gudnason V, Launer LJ, Mace A, Boerwinckle E, Arking DE, Tanikawa C, Nakamura Y, Brown MJ, Gaspoz JM, Theler JM, Siscovick DS, Psaty BM, Bergmann S, Vollenweider P, Vitart V, Wright AF, Zemunik T, Boban M, Kolcic I, Navarro P, Brown EM, Estrada K, Ding J, Harris TB, Bandinelli S, Hernandez D, Singleton AB, Girotto G, Ruggiero D, d'Adamo AP, Robino A, Meitinger T, Meisinger C, Davies G, Starr JM, Chambers JC, Boehm BO, Winkelmann BR, Huang J, Murgia F, Wild SH, Campbell H, Morris AP, Franco OH, Hofman A, Uitterlinden AG, Rivadeneira F, Völker U, Hannemann A, Biffar R, Hoffmann W, Shin SY, Lescuyer P, Henry H, Schurmann C; SUNLIGHT Consortium; GEFOS Consortium, Munroe PB, Gasparini P, Pirastu N, Ciullo M, Gieger C, März W, Lind L, Spector TD, Smith AV, Rudan I, Wilson JF, Polasek O, Deary IJ, Pirastu M, Ferrucci L, Liu Y, Kestenbaum B, Kooner JS, Witteman JC, Nauck M, Kao WH, Wallaschofski H, Bonny O, Fox CS, Bochud M. O'Seaghdha CM, et al. Among authors: mace a. PLoS Genet. 2013;9(9):e1003796. doi: 10.1371/journal.pgen.1003796. Epub 2013 Sep 19. PLoS Genet. 2013. PMID: 24068962 Free PMC article.
Diagnostic accuracy of a novel tuberculosis point-of-care urine lipoarabinomannan assay for people living with HIV: A meta-analysis of individual in- and outpatient data.
Broger T, Nicol MP, Székely R, Bjerrum S, Sossen B, Schutz C, Opintan JA, Johansen IS, Mitarai S, Chikamatsu K, Kerkhoff AD, Macé A, Ongarello S, Meintjes G, Denkinger CM, Schumacher SG. Broger T, et al. Among authors: mace a. PLoS Med. 2020 May 1;17(5):e1003113. doi: 10.1371/journal.pmed.1003113. eCollection 2020 May. PLoS Med. 2020. PMID: 32357197 Free PMC article.
Bacterial versus non-bacterial infections: a methodology to support use-case-driven product development of diagnostics.
Escadafal C, Geis S, Siqueira AM, Agnandji ST, Shimelis T, Tadesse BT, Massinga Loembé M, Harris V, Fernandez-Carballo BL, Macé A, Ongarello S, Rodriguez W, Dittrich S. Escadafal C, et al. Among authors: mace a. BMJ Glob Health. 2020 Oct;5(10):e003141. doi: 10.1136/bmjgh-2020-003141. BMJ Glob Health. 2020. PMID: 33087393 Free PMC article. Review.
Diagnostic Accuracy of a Novel and Rapid Lipoarabinomannan Test for Diagnosing Tuberculosis Among People With Human Immunodeficiency Virus.
Bjerrum S, Broger T, Székely R, Mitarai S, Opintan JA, Kenu E, Lartey M, Addo KK, Chikamatsu K, Macé A, Schumacher SG, Moreau E, Shah M, Johansen IS, Denkinger CM. Bjerrum S, et al. Among authors: mace a. Open Forum Infect Dis. 2019 Dec 21;7(1):ofz530. doi: 10.1093/ofid/ofz530. eCollection 2020 Jan. Open Forum Infect Dis. 2019. PMID: 31976353 Free PMC article.
Comparing accuracy of lipoarabinomannan urine tests for diagnosis of pulmonary tuberculosis in children from four African countries: a cross-sectional study.
Nkereuwem E, Togun T, Gomez MP, Székely R, Macé A, Jobe D, Schumacher SG, Kampmann B, Denkinger CM; Reach4KidsAfrica (R4KA) Consortium. Nkereuwem E, et al. Among authors: mace a. Lancet Infect Dis. 2021 Mar;21(3):376-384. doi: 10.1016/S1473-3099(20)30598-3. Epub 2020 Dec 11. Lancet Infect Dis. 2021. PMID: 33316214
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