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Page 1
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: kawalia a. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
Zhang R, Gehlen J, Kawalia A, Melissari MT, Dakal TC, Menon AM, Höfele J, Riedhammer K, Waffenschmidt L, Fabian J, Breuer K, Kalanithy J, Hilger AC, Sharma A, Hölscher A, Boemers TM, Pauly M, Leutner A, Fuchs J, Seitz G, Ludwikowski BM, Gomez B, Hubertus J, Heydweiller A, Kurz R, Leonhardt J, Kosch F, Holland-Cunz S, Münsterer O, Ure B, Schmiedeke E, Neser J, Degenhardt P, Märzheuser S, Kleine K, Schäfer M, Spychalski N, Deffaa OJ, Gosemann JH, Lacher M, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Grote P, Schumacher J, Thiele H, Reutter H. Zhang R, et al. Among authors: kawalia a. PLoS One. 2020 Jun 5;15(6):e0234246. doi: 10.1371/journal.pone.0234246. eCollection 2020. PLoS One. 2020. PMID: 32502225 Free PMC article.
Correction: The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: kawalia a. Genet Med. 2020 Aug;22(8):1426-1428. doi: 10.1038/s41436-020-0839-9. Genet Med. 2020. PMID: 32451403 Free article.
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A,… See abstract for full author list ➔ van der Lee SJ, et al. Among authors: kawalia a. Acta Neuropathol. 2020 May;139(5):959-962. doi: 10.1007/s00401-019-02107-8. Acta Neuropathol. 2020. PMID: 31955222 Free PMC article.
Alzheimer's disease-associated (hydroxy)methylomic changes in the brain and blood.
Lardenoije R, Roubroeks JAY, Pishva E, Leber M, Wagner H, Iatrou A, Smith AR, Smith RG, Eijssen LMT, Kleineidam L, Kawalia A, Hoffmann P, Luck T, Riedel-Heller S, Jessen F, Maier W, Wagner M, Hurlemann R, Kenis G, Ali M, Del Sol A, Mastroeni D, Delvaux E, Coleman PD, Mill J, Rutten BPF, Lunnon K, Ramirez A, van den Hove DLA. Lardenoije R, et al. Among authors: kawalia a. Clin Epigenetics. 2019 Nov 27;11(1):164. doi: 10.1186/s13148-019-0755-5. Clin Epigenetics. 2019. PMID: 31775875 Free PMC article.
The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: kawalia a. Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Genet Med. 2020. PMID: 31680123 Free article.
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nürnberg P, Motameny S, Thiele H, Cirak S. Dafsari HS, et al. Among authors: kawalia a. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004465. doi: 10.1101/mcs.a004465. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604777 Free PMC article.
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, Kornhuber J, Peters O, Diez-Fairen M, Frölich L, Hüll M, Wiltfang J, Scherer M, Riedel-Heller S, Schneider A, Heneka MT, Fliessbach K, Sharaf A, Thiele H, Lennarz M, Jessen F, Maier W, Kubisch C, Ignatova Z, Nürnberg P, Pastor P, Walter J, Ramirez A. Karsak M, et al. Among authors: kawalia a. Hum Mutat. 2020 Jan;41(1):169-181. doi: 10.1002/humu.23904. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31464095
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