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Page 1
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study; van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM. Calpena E, et al. Among authors: harder ave. Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905399 Free PMC article.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: harder ave. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Among authors: harder ave. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767 Free article.
Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache.
Harder AVE, Winsvold BS, Noordam R, Vijfhuizen LS, Børte S, Kogelman LJA, de Boer I, Tronvik E, Rosendaal FR, Willems van Dijk K, O'Connor E, Fourier C, Thomas LF, Kristoffersen ES; Cluster Headache Genetics Working Group; Fronczek R, Pozo-Rosich P, Jensen RH, Ferrari MD, Hansen TF, Zwart JA, Terwindt GM, van den Maagdenberg AMJM. Harder AVE, et al. Ann Neurol. 2021 Aug;90(2):203-216. doi: 10.1002/ana.26146. Epub 2021 Jul 14. Ann Neurol. 2021. PMID: 34180076 Free PMC article.
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
O'Connor E, Fourier C, Ran C, Sivakumar P, Liesecke F, Southgate L, Harder AVE, Vijfhuizen LS, Yip J, Giffin N, Silver N, Ahmed F, Hostettler IC, Davies B, Cader MZ, Simpson BS, Sullivan R, Efthymiou S, Adebimpe J, Quinn O, Campbell C, Cavalleri GL, Vikelis M, Kelderman T, Paemeleire K, Kilbride E, Grangeon L, Lagrata S, Danno D, Trembath R, Wood NW, Kockum I, Winsvold BS, Steinberg A, Sjöstrand C, Waldenlind E, Vandrovcova J, Houlden H, Matharu M, Belin AC. O'Connor E, et al. Among authors: harder ave. Ann Neurol. 2021 Aug;90(2):193-202. doi: 10.1002/ana.26150. Epub 2021 Jul 14. Ann Neurol. 2021. PMID: 34184781
Migraine, chronic kidney disease and kidney function: observational and genetic analyses.
Zhang W, Zhang L, Yang L, Xiao C, Wu X, Yan P, Cui H, Yang C, Zhu J, Wu X, Tang M, Wang Y, Chen L, Liu Y, Zou Y, Zhang L, Yang C, Yao Y, Li J, Liu Z, Zhang B, Jiang X; International Headache Genetics Consortium. Zhang W, et al. Hum Genet. 2023 Aug;142(8):1185-1200. doi: 10.1007/s00439-023-02575-9. Epub 2023 Jun 12. Hum Genet. 2023. PMID: 37306871 Free PMC article.
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.
Hautakangas H, Winsvold BS, Ruotsalainen SE, Bjornsdottir G, Harder AVE, Kogelman LJA, Thomas LF, Noordam R, Benner C, Gormley P, Artto V, Banasik K, Bjornsdottir A, Boomsma DI, Brumpton BM, Burgdorf KS, Buring JE, Chalmer MA, de Boer I, Dichgans M, Erikstrup C, Färkkilä M, Garbrielsen ME, Ghanbari M, Hagen K, Häppölä P, Hottenga JJ, Hrafnsdottir MG, Hveem K, Johnsen MB, Kähönen M, Kristoffersen ES, Kurth T, Lehtimäki T, Lighart L, Magnusson SH, Malik R, Pedersen OB, Pelzer N, Penninx BWJH, Ran C, Ridker PM, Rosendaal FR, Sigurdardottir GR, Skogholt AH, Sveinsson OA, Thorgeirsson TE, Ullum H, Vijfhuizen LS, Widén E, van Dijk KW; International Headache Genetics Consortium; HUNT All-in Headache; Danish Blood Donor Study Genomic Cohort; Aromaa A, Belin AC, Freilinger T, Ikram MA, Järvelin MR, Raitakari OT, Terwindt GM, Kallela M, Wessman M, Olesen J, Chasman DI, Nyholt DR, Stefánsson H, Stefansson K, van den Maagdenberg AMJM, Hansen TF, Ripatti S, Zwart JA, Palotie A, Pirinen M. Hautakangas H, et al. Among authors: harder ave. Nat Genet. 2022 Feb;54(2):152-160. doi: 10.1038/s41588-021-00990-0. Epub 2022 Feb 3. Nat Genet. 2022. PMID: 35115687 Free PMC article.
Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease.
Gardiner SL, Harder AVE, Campman YJM, Trompet S, Gussekloo J, van Belzen MJ, Boogaard MW, Roos RAC, Jansen IE, Pijnenburg YAL, Scheltens P, van der Flier WM, Aziz NA. Gardiner SL, et al. Among authors: harder ave. Neurobiol Aging. 2019 Jan;73:230.e9-230.e17. doi: 10.1016/j.neurobiolaging.2018.09.007. Epub 2018 Sep 15. Neurobiol Aging. 2019. PMID: 30314815
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