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Alexander disease type II

MedGen UID:
1842714
Concept ID:
C5679914
Disease or Syndrome
Synonym: AxD type II
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018210
Orphanet: ORPHA363722

Definition

An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. [from ORDO]

Professional guidelines

PubMed

Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA
Genet Med 2022 Oct;24(10):2065-2078. Epub 2022 Aug 18 doi: 10.1016/j.gim.2022.07.005. PMID: 35980381Free PMC Article
Mearin ML, Agardh D, Antunes H, Al-Toma A, Auricchio R, Castillejo G, Catassi C, Ciacci C, Discepolo V, Dolinsek J, Donat E, Gillett P, Guandalini S, Husby Md DMSc S, Koletzko Md S, Koltai T, Korponay-Szabó IR, Kurppa K, Lionetti E, Mårild K, Martinez Ojinaga E, Meijer C, Monachesi C, Polanco I, Popp A, Roca M, Rodriguez-Herrera A, Shamir R, Stordal K, Troncone R, Valitutti F, Vreugdenhil A, Wessels M, Whiting P; ESPGHAN Special Interest Group on Celiac Disease
J Pediatr Gastroenterol Nutr 2022 Sep 1;75(3):369-386. Epub 2022 Jun 27 doi: 10.1097/MPG.0000000000003540. PMID: 35758521
Tauber M
Arch Orthop Trauma Surg 2013 Jul;133(7):985-95. Epub 2013 Apr 30 doi: 10.1007/s00402-013-1748-z. PMID: 23632779

Recent clinical studies

Etiology

Green JB, Mottl AK, Bakris G, Heerspink HJL, Mann JFE, McGill JB, Nangaku M, Rossing P, Scott C, Gay A, Agarwal R
Nephrol Dial Transplant 2023 Mar 31;38(4):894-903. doi: 10.1093/ndt/gfac198. PMID: 35700142Free PMC Article
Mearin ML, Agardh D, Antunes H, Al-Toma A, Auricchio R, Castillejo G, Catassi C, Ciacci C, Discepolo V, Dolinsek J, Donat E, Gillett P, Guandalini S, Husby Md DMSc S, Koletzko Md S, Koltai T, Korponay-Szabó IR, Kurppa K, Lionetti E, Mårild K, Martinez Ojinaga E, Meijer C, Monachesi C, Polanco I, Popp A, Roca M, Rodriguez-Herrera A, Shamir R, Stordal K, Troncone R, Valitutti F, Vreugdenhil A, Wessels M, Whiting P; ESPGHAN Special Interest Group on Celiac Disease
J Pediatr Gastroenterol Nutr 2022 Sep 1;75(3):369-386. Epub 2022 Jun 27 doi: 10.1097/MPG.0000000000003540. PMID: 35758521
Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, Gonzalez JM, Fontanillas P, Claringbould A, Bakker OB, Sulem P, Walters RG, Terao C, Turon S, Horikoshi M, Lin K, Onland-Moret NC, Sankar A, Hertz EPT, Timshel PN, Shukla V, Borup R, Olsen KW, Aguilera P, Ferrer-Roda M, Huang Y, Stankovic S, Timmers PRHJ, Ahearn TU, Alizadeh BZ, Naderi E, Andrulis IL, Arnold AM, Aronson KJ, Augustinsson A, Bandinelli S, Barbieri CM, Beaumont RN, Becher H, Beckmann MW, Benonisdottir S, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK, Boomsma DI, Bowker N, Brody JA, Broer L, Buring JE, Campbell A, Campbell H, Castelao JE, Catamo E, Chanock SJ, Chenevix-Trench G, Ciullo M, Corre T, Couch FJ, Cox A, Crisponi L, Cross SS, Cucca F, Czene K, Smith GD, de Geus EJCN, de Mutsert R, De Vivo I, Demerath EW, Dennis J, Dunning AM, Dwek M, Eriksson M, Esko T, Fasching PA, Faul JD, Ferrucci L, Franceschini N, Frayling TM, Gago-Dominguez M, Mezzavilla M, García-Closas M, Gieger C, Giles GG, Grallert H, Gudbjartsson DF, Gudnason V, Guénel P, Haiman CA, Håkansson N, Hall P, Hayward C, He C, He W, Heiss G, Høffding MK, Hopper JL, Hottenga JJ, Hu F, Hunter D, Ikram MA, Jackson RD, Joaquim MDR, John EM, Joshi PK, Karasik D, Kardia SLR, Kartsonaki C, Karlsson R, Kitahara CM, Kolcic I, Kooperberg C, Kraft P, Kurian AW, Kutalik Z, La Bianca M, LaChance G, Langenberg C, Launer LJ, Laven JSE, Lawlor DA, Le Marchand L, Li J, Lindblom A, Lindstrom S, Lindstrom T, Linet M, Liu Y, Liu S, Luan J, Mägi R, Magnusson PKE, Mangino M, Mannermaa A, Marco B, Marten J, Martin NG, Mbarek H, McKnight B, Medland SE, Meisinger C, Meitinger T, Menni C, Metspalu A, Milani L, Milne RL, Montgomery GW, Mook-Kanamori DO, Mulas A, Mulligan AM, Murray A, Nalls MA, Newman A, Noordam R, Nutile T, Nyholt DR, Olshan AF, Olsson H, Painter JN, Patel AV, Pedersen NL, Perjakova N, Peters A, Peters U, Pharoah PDP, Polasek O, Porcu E, Psaty BM, Rahman I, Rennert G, Rennert HS, Ridker PM, Ring SM, Robino A, Rose LM, Rosendaal FR, Rossouw J, Rudan I, Rueedi R, Ruggiero D, Sala CF, Saloustros E, Sandler DP, Sanna S, Sawyer EJ, Sarnowski C, Schlessinger D, Schmidt MK, Schoemaker MJ, Schraut KE, Scott C, Shekari S, Shrikhande A, Smith AV, Smith BH, Smith JA, Sorice R, Southey MC, Spector TD, Spinelli JJ, Stampfer M, Stöckl D, van Meurs JBJ, Strauch K, Styrkarsdottir U, Swerdlow AJ, Tanaka T, Teras LR, Teumer A, Þorsteinsdottir U, Timpson NJ, Toniolo D, Traglia M, Troester MA, Truong T, Tyrrell J, Uitterlinden AG, Ulivi S, Vachon CM, Vitart V, Völker U, Vollenweider P, Völzke H, Wang Q, Wareham NJ, Weinberg CR, Weir DR, Wilcox AN, van Dijk KW, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wolk A, Wood AR, Zhao W, Zygmunt M; Biobank-based Integrative Omics Study (BIOS) Consortium; eQTLGen Consortium; Biobank Japan Project; China Kadoorie Biobank Collaborative Group; kConFab Investigators; LifeLines Cohort Study; InterAct consortium; 23andMe Research Team, Chen Z, Li L, Franke L, Burgess S, Deelen P, Pers TH, Grøndahl ML, Andersen CY, Pujol A, Lopez-Contreras AJ, Daniel JA, Stefansson K, Chang-Claude J, van der Schouw YT, Lunetta KL, Chasman DI, Easton DF, Visser JA, Ozanne SE, Namekawa SH, Solc P, Murabito JM, Ong KK, Hoffmann ER, Murray A, Roig I, Perry JRB
Nature 2021 Aug;596(7872):393-397. Epub 2021 Aug 4 doi: 10.1038/s41586-021-03779-7. PMID: 34349265Free PMC Article
COVID-19 Host Genetics Initiative
Nature 2021 Dec;600(7889):472-477. Epub 2021 Jul 8 doi: 10.1038/s41586-021-03767-x. PMID: 34237774Free PMC Article
Gibson CM, Kastelein JJP, Phillips AT, Aylward PE, Yee MK, Tendera M, Nicholls SJ, Pocock S, Goodman SG, Alexander JH, Lincoff AM, Bode C, Duffy D, Heise M, Berman G, Mears SJ, Tricoci P, Deckelbaum LI, Steg PG, Ridker P, Mehran R
Am Heart J 2021 Jan;231:121-127. Epub 2020 Oct 13 doi: 10.1016/j.ahj.2020.10.052. PMID: 33065120

Diagnosis

Lamberti G, Panzuto F, Pavel M, O'Toole D, Ambrosini V, Falconi M, Garcia-Carbonero R, Riechelmann RP, Rindi G, Campana D
Nat Rev Dis Primers 2024 Apr 11;10(1):25. doi: 10.1038/s41572-024-00508-y. PMID: 38605021
Mearin ML, Agardh D, Antunes H, Al-Toma A, Auricchio R, Castillejo G, Catassi C, Ciacci C, Discepolo V, Dolinsek J, Donat E, Gillett P, Guandalini S, Husby Md DMSc S, Koletzko Md S, Koltai T, Korponay-Szabó IR, Kurppa K, Lionetti E, Mårild K, Martinez Ojinaga E, Meijer C, Monachesi C, Polanco I, Popp A, Roca M, Rodriguez-Herrera A, Shamir R, Stordal K, Troncone R, Valitutti F, Vreugdenhil A, Wessels M, Whiting P; ESPGHAN Special Interest Group on Celiac Disease
J Pediatr Gastroenterol Nutr 2022 Sep 1;75(3):369-386. Epub 2022 Jun 27 doi: 10.1097/MPG.0000000000003540. PMID: 35758521
Mózes FE, Lee JA, Selvaraj EA, Jayaswal ANA, Trauner M, Boursier J, Fournier C, Staufer K, Stauber RE, Bugianesi E, Younes R, Gaia S, Lupșor-Platon M, Petta S, Shima T, Okanoue T, Mahadeva S, Chan WK, Eddowes PJ, Hirschfield GM, Newsome PN, Wong VW, de Ledinghen V, Fan J, Shen F, Cobbold JF, Sumida Y, Okajima A, Schattenberg JM, Labenz C, Kim W, Lee MS, Wiegand J, Karlas T, Yılmaz Y, Aithal GP, Palaniyappan N, Cassinotto C, Aggarwal S, Garg H, Ooi GJ, Nakajima A, Yoneda M, Ziol M, Barget N, Geier A, Tuthill T, Brosnan MJ, Anstee QM, Neubauer S, Harrison SA, Bossuyt PM, Pavlides M; LITMUS Investigators
Gut 2022 May;71(5):1006-1019. Epub 2021 May 17 doi: 10.1136/gutjnl-2021-324243. PMID: 34001645Free PMC Article
Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, Gonzalez JM, Fontanillas P, Claringbould A, Bakker OB, Sulem P, Walters RG, Terao C, Turon S, Horikoshi M, Lin K, Onland-Moret NC, Sankar A, Hertz EPT, Timshel PN, Shukla V, Borup R, Olsen KW, Aguilera P, Ferrer-Roda M, Huang Y, Stankovic S, Timmers PRHJ, Ahearn TU, Alizadeh BZ, Naderi E, Andrulis IL, Arnold AM, Aronson KJ, Augustinsson A, Bandinelli S, Barbieri CM, Beaumont RN, Becher H, Beckmann MW, Benonisdottir S, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK, Boomsma DI, Bowker N, Brody JA, Broer L, Buring JE, Campbell A, Campbell H, Castelao JE, Catamo E, Chanock SJ, Chenevix-Trench G, Ciullo M, Corre T, Couch FJ, Cox A, Crisponi L, Cross SS, Cucca F, Czene K, Smith GD, de Geus EJCN, de Mutsert R, De Vivo I, Demerath EW, Dennis J, Dunning AM, Dwek M, Eriksson M, Esko T, Fasching PA, Faul JD, Ferrucci L, Franceschini N, Frayling TM, Gago-Dominguez M, Mezzavilla M, García-Closas M, Gieger C, Giles GG, Grallert H, Gudbjartsson DF, Gudnason V, Guénel P, Haiman CA, Håkansson N, Hall P, Hayward C, He C, He W, Heiss G, Høffding MK, Hopper JL, Hottenga JJ, Hu F, Hunter D, Ikram MA, Jackson RD, Joaquim MDR, John EM, Joshi PK, Karasik D, Kardia SLR, Kartsonaki C, Karlsson R, Kitahara CM, Kolcic I, Kooperberg C, Kraft P, Kurian AW, Kutalik Z, La Bianca M, LaChance G, Langenberg C, Launer LJ, Laven JSE, Lawlor DA, Le Marchand L, Li J, Lindblom A, Lindstrom S, Lindstrom T, Linet M, Liu Y, Liu S, Luan J, Mägi R, Magnusson PKE, Mangino M, Mannermaa A, Marco B, Marten J, Martin NG, Mbarek H, McKnight B, Medland SE, Meisinger C, Meitinger T, Menni C, Metspalu A, Milani L, Milne RL, Montgomery GW, Mook-Kanamori DO, Mulas A, Mulligan AM, Murray A, Nalls MA, Newman A, Noordam R, Nutile T, Nyholt DR, Olshan AF, Olsson H, Painter JN, Patel AV, Pedersen NL, Perjakova N, Peters A, Peters U, Pharoah PDP, Polasek O, Porcu E, Psaty BM, Rahman I, Rennert G, Rennert HS, Ridker PM, Ring SM, Robino A, Rose LM, Rosendaal FR, Rossouw J, Rudan I, Rueedi R, Ruggiero D, Sala CF, Saloustros E, Sandler DP, Sanna S, Sawyer EJ, Sarnowski C, Schlessinger D, Schmidt MK, Schoemaker MJ, Schraut KE, Scott C, Shekari S, Shrikhande A, Smith AV, Smith BH, Smith JA, Sorice R, Southey MC, Spector TD, Spinelli JJ, Stampfer M, Stöckl D, van Meurs JBJ, Strauch K, Styrkarsdottir U, Swerdlow AJ, Tanaka T, Teras LR, Teumer A, Þorsteinsdottir U, Timpson NJ, Toniolo D, Traglia M, Troester MA, Truong T, Tyrrell J, Uitterlinden AG, Ulivi S, Vachon CM, Vitart V, Völker U, Vollenweider P, Völzke H, Wang Q, Wareham NJ, Weinberg CR, Weir DR, Wilcox AN, van Dijk KW, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wolk A, Wood AR, Zhao W, Zygmunt M; Biobank-based Integrative Omics Study (BIOS) Consortium; eQTLGen Consortium; Biobank Japan Project; China Kadoorie Biobank Collaborative Group; kConFab Investigators; LifeLines Cohort Study; InterAct consortium; 23andMe Research Team, Chen Z, Li L, Franke L, Burgess S, Deelen P, Pers TH, Grøndahl ML, Andersen CY, Pujol A, Lopez-Contreras AJ, Daniel JA, Stefansson K, Chang-Claude J, van der Schouw YT, Lunetta KL, Chasman DI, Easton DF, Visser JA, Ozanne SE, Namekawa SH, Solc P, Murabito JM, Ong KK, Hoffmann ER, Murray A, Roig I, Perry JRB
Nature 2021 Aug;596(7872):393-397. Epub 2021 Aug 4 doi: 10.1038/s41586-021-03779-7. PMID: 34349265Free PMC Article
Bonnet N, Bourgoin L, Biver E, Douni E, Ferrari S
J Clin Invest 2019 May 23;129(8):3214-3223. doi: 10.1172/JCI125915. PMID: 31120440Free PMC Article

Therapy

Green JB, Mottl AK, Bakris G, Heerspink HJL, Mann JFE, McGill JB, Nangaku M, Rossing P, Scott C, Gay A, Agarwal R
Nephrol Dial Transplant 2023 Mar 31;38(4):894-903. doi: 10.1093/ndt/gfac198. PMID: 35700142Free PMC Article
COVID-19 Host Genetics Initiative
Nature 2021 Dec;600(7889):472-477. Epub 2021 Jul 8 doi: 10.1038/s41586-021-03767-x. PMID: 34237774Free PMC Article
Chaitman BR, Alexander KP, Cyr DD, Berger JS, Reynolds HR, Bangalore S, Boden WE, Lopes RD, Demkow M, Piero Perna G, Riezebos RK, McFalls EO, Banerjee S, Bagai A, Gosselin G, O'Brien SM, Rockhold FW, Waters DD, Thygesen KA, Stone GW, White HD, Maron DJ, Hochman JS; ISCHEMIA Research Group
Circulation 2021 Feb 23;143(8):790-804. Epub 2020 Dec 3 doi: 10.1161/CIRCULATIONAHA.120.047987. PMID: 33267610Free PMC Article
Gibson CM, Kastelein JJP, Phillips AT, Aylward PE, Yee MK, Tendera M, Nicholls SJ, Pocock S, Goodman SG, Alexander JH, Lincoff AM, Bode C, Duffy D, Heise M, Berman G, Mears SJ, Tricoci P, Deckelbaum LI, Steg PG, Ridker P, Mehran R
Am Heart J 2021 Jan;231:121-127. Epub 2020 Oct 13 doi: 10.1016/j.ahj.2020.10.052. PMID: 33065120
Schmitt H, Billmeier U, Dieterich W, Rath T, Sonnewald S, Reid S, Hirschmann S, Hildner K, Waldner MJ, Mudter J, Hartmann A, Grützmann R, Neufert C, Münster T, Neurath MF, Atreya R
Gut 2019 May;68(5):814-828. Epub 2018 May 30 doi: 10.1136/gutjnl-2017-315671. PMID: 29848778Free PMC Article

Prognosis

Köbel M, Kang EY, Weir A, Rambau PF, Lee CH, Nelson GS, Ghatage P, Meagher NS, Riggan MJ, Alsop J, Anglesio MS, Beckmann MW, Bisinotto C, Boisen M, Boros J, Brand AH, Brooks-Wilson A, Carney ME, Coulson P, Courtney-Brooks M, Cushing-Haugen KL, Cybulski C, Deen S, El-Bahrawy MA, Elishaev E, Erber R, Fereday S; AOCS Group, Fischer A, Gayther SA, Barquin-Garcia A, Gentry-Maharaj A, Gilks CB, Gronwald H, Grube M, Harnett PR, Harris HR, Hartkopf AD, Hartmann A, Hein A, Hendley J, Hernandez BY, Huang Y, Jakubowska A, Jimenez-Linan M, Jones ME, Kennedy CJ, Kluz T, Koziak JM, Lesnock J, Lester J, Lubiński J, Longacre TA, Lycke M, Mateoiu C, McCauley BM, McGuire V, Ney B, Olawaiye A, Orsulic S, Osorio A, Paz-Ares L, Ramón Y Cajal T, Rothstein JH, Ruebner M, Schoemaker MJ, Shah M, Sharma R, Sherman ME, Shvetsov YB, Singh N, Steed H, Storr SJ, Talhouk A, Traficante N, Wang C, Whittemore AS, Widschwendter M, Wilkens LR, Winham SJ, Benitez J, Berchuck A, Bowtell DD, Candido Dos Reis FJ, Campbell I, Cook LS, DeFazio A, Doherty JA, Fasching PA, Fortner RT, García MJ, Goodman MT, Goode EL, Gronwald J, Huntsman DG, Karlan BY, Kelemen LE, Kommoss S, Le ND, Martin SG, Menon U, Modugno F, Pharoah PD, Schildkraut JM, Sieh W, Staebler A, Sundfeldt K, Swerdlow AJ, Ramus SJ, Brenton JD
J Pathol Clin Res 2023 May;9(3):208-222. Epub 2023 Mar 22 doi: 10.1002/cjp2.311. PMID: 36948887Free PMC Article
Mearin ML, Agardh D, Antunes H, Al-Toma A, Auricchio R, Castillejo G, Catassi C, Ciacci C, Discepolo V, Dolinsek J, Donat E, Gillett P, Guandalini S, Husby Md DMSc S, Koletzko Md S, Koltai T, Korponay-Szabó IR, Kurppa K, Lionetti E, Mårild K, Martinez Ojinaga E, Meijer C, Monachesi C, Polanco I, Popp A, Roca M, Rodriguez-Herrera A, Shamir R, Stordal K, Troncone R, Valitutti F, Vreugdenhil A, Wessels M, Whiting P; ESPGHAN Special Interest Group on Celiac Disease
J Pediatr Gastroenterol Nutr 2022 Sep 1;75(3):369-386. Epub 2022 Jun 27 doi: 10.1097/MPG.0000000000003540. PMID: 35758521
GBD 2019 Adolescent Mortality Collaborators
Lancet 2021 Oct 30;398(10311):1593-1618. Epub 2021 Oct 28 doi: 10.1016/S0140-6736(21)01546-4. PMID: 34755628Free PMC Article
Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, Gonzalez JM, Fontanillas P, Claringbould A, Bakker OB, Sulem P, Walters RG, Terao C, Turon S, Horikoshi M, Lin K, Onland-Moret NC, Sankar A, Hertz EPT, Timshel PN, Shukla V, Borup R, Olsen KW, Aguilera P, Ferrer-Roda M, Huang Y, Stankovic S, Timmers PRHJ, Ahearn TU, Alizadeh BZ, Naderi E, Andrulis IL, Arnold AM, Aronson KJ, Augustinsson A, Bandinelli S, Barbieri CM, Beaumont RN, Becher H, Beckmann MW, Benonisdottir S, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK, Boomsma DI, Bowker N, Brody JA, Broer L, Buring JE, Campbell A, Campbell H, Castelao JE, Catamo E, Chanock SJ, Chenevix-Trench G, Ciullo M, Corre T, Couch FJ, Cox A, Crisponi L, Cross SS, Cucca F, Czene K, Smith GD, de Geus EJCN, de Mutsert R, De Vivo I, Demerath EW, Dennis J, Dunning AM, Dwek M, Eriksson M, Esko T, Fasching PA, Faul JD, Ferrucci L, Franceschini N, Frayling TM, Gago-Dominguez M, Mezzavilla M, García-Closas M, Gieger C, Giles GG, Grallert H, Gudbjartsson DF, Gudnason V, Guénel P, Haiman CA, Håkansson N, Hall P, Hayward C, He C, He W, Heiss G, Høffding MK, Hopper JL, Hottenga JJ, Hu F, Hunter D, Ikram MA, Jackson RD, Joaquim MDR, John EM, Joshi PK, Karasik D, Kardia SLR, Kartsonaki C, Karlsson R, Kitahara CM, Kolcic I, Kooperberg C, Kraft P, Kurian AW, Kutalik Z, La Bianca M, LaChance G, Langenberg C, Launer LJ, Laven JSE, Lawlor DA, Le Marchand L, Li J, Lindblom A, Lindstrom S, Lindstrom T, Linet M, Liu Y, Liu S, Luan J, Mägi R, Magnusson PKE, Mangino M, Mannermaa A, Marco B, Marten J, Martin NG, Mbarek H, McKnight B, Medland SE, Meisinger C, Meitinger T, Menni C, Metspalu A, Milani L, Milne RL, Montgomery GW, Mook-Kanamori DO, Mulas A, Mulligan AM, Murray A, Nalls MA, Newman A, Noordam R, Nutile T, Nyholt DR, Olshan AF, Olsson H, Painter JN, Patel AV, Pedersen NL, Perjakova N, Peters A, Peters U, Pharoah PDP, Polasek O, Porcu E, Psaty BM, Rahman I, Rennert G, Rennert HS, Ridker PM, Ring SM, Robino A, Rose LM, Rosendaal FR, Rossouw J, Rudan I, Rueedi R, Ruggiero D, Sala CF, Saloustros E, Sandler DP, Sanna S, Sawyer EJ, Sarnowski C, Schlessinger D, Schmidt MK, Schoemaker MJ, Schraut KE, Scott C, Shekari S, Shrikhande A, Smith AV, Smith BH, Smith JA, Sorice R, Southey MC, Spector TD, Spinelli JJ, Stampfer M, Stöckl D, van Meurs JBJ, Strauch K, Styrkarsdottir U, Swerdlow AJ, Tanaka T, Teras LR, Teumer A, Þorsteinsdottir U, Timpson NJ, Toniolo D, Traglia M, Troester MA, Truong T, Tyrrell J, Uitterlinden AG, Ulivi S, Vachon CM, Vitart V, Völker U, Vollenweider P, Völzke H, Wang Q, Wareham NJ, Weinberg CR, Weir DR, Wilcox AN, van Dijk KW, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wolk A, Wood AR, Zhao W, Zygmunt M; Biobank-based Integrative Omics Study (BIOS) Consortium; eQTLGen Consortium; Biobank Japan Project; China Kadoorie Biobank Collaborative Group; kConFab Investigators; LifeLines Cohort Study; InterAct consortium; 23andMe Research Team, Chen Z, Li L, Franke L, Burgess S, Deelen P, Pers TH, Grøndahl ML, Andersen CY, Pujol A, Lopez-Contreras AJ, Daniel JA, Stefansson K, Chang-Claude J, van der Schouw YT, Lunetta KL, Chasman DI, Easton DF, Visser JA, Ozanne SE, Namekawa SH, Solc P, Murabito JM, Ong KK, Hoffmann ER, Murray A, Roig I, Perry JRB
Nature 2021 Aug;596(7872):393-397. Epub 2021 Aug 4 doi: 10.1038/s41586-021-03779-7. PMID: 34349265Free PMC Article
Chaitman BR, Alexander KP, Cyr DD, Berger JS, Reynolds HR, Bangalore S, Boden WE, Lopes RD, Demkow M, Piero Perna G, Riezebos RK, McFalls EO, Banerjee S, Bagai A, Gosselin G, O'Brien SM, Rockhold FW, Waters DD, Thygesen KA, Stone GW, White HD, Maron DJ, Hochman JS; ISCHEMIA Research Group
Circulation 2021 Feb 23;143(8):790-804. Epub 2020 Dec 3 doi: 10.1161/CIRCULATIONAHA.120.047987. PMID: 33267610Free PMC Article

Clinical prediction guides

Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M
Neurology 2024 Jan 9;102(1):e207898. Epub 2023 Dec 12 doi: 10.1212/WNL.0000000000207898. PMID: 38165373Free PMC Article
Wang A, Nixon T, Martin H, Richards A, McNinch A, Alexander P, Pujari R, Bale P, Shenker N, Bearcroft P, Brown S, Blackwell A, Poulson A, Snead M
Arch Dis Child 2023 Oct;108(10):789-791. Epub 2023 Mar 7 doi: 10.1136/archdischild-2022-325059. PMID: 36882306
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