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Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1 /lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement.
Farashi S, Abbott CJ, Ansell BR, Wu Z, Altay L, Arnon E, Arnould L, Bagdasarova Y, Balaskas K, Chen FK, Chew E, Chowers I, Clarke S, Cukras C, Delcourt C, Delyfer MN, den Hollander AI, Fauser S, Finger RP, Gabrielle PH, Han J, Hodgson LA, Hogg R, Holz FG, Hoyng C, Kumar H, Lad EM, Lee A, Luhmann UF, Mauschitz MM, McKnight AJ, McLenachan S, Mishra A, Moghul I, Orozco LD, Sampson DM, Scott LW, Sitnilska V, Song S, Stockwell A, Swaroop A, Terheyden JH, Tiosano L, Tufail A, Yaspan BL; MACUSTAR consortium; NICOLA consortium; Pébay A, Fletcher EL, Guymer RH, Bahlo M. Farashi S, et al. Among authors: bahlo m. medRxiv [Preprint]. 2024 Sep 28:2024.09.26.24314339. doi: 10.1101/2024.09.26.24314339. medRxiv. 2024. PMID: 39399049 Free PMC article. Preprint.
Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
Bonelli R, Jackson VE, Prasad A, Munro JE, Farashi S, Heeren TFC, Pontikos N, Scheppke L, Friedlander M; MacTel Consortium; Egan CA, Allikmets R, Ansell BRE, Bahlo M. Bonelli R, et al. Among authors: bahlo m. Commun Biol. 2021 Apr 9;4(1):473. doi: 10.1038/s42003-021-01972-y. Commun Biol. 2021. PMID: 33837246 Free PMC article. No abstract available.
Statistical haemoglobin thresholds to define anaemia across the lifecycle.
Braat S, Fielding K, Han J, Jackson VE, Zaloumis S, Xu JXH, Moir-Meyer G, Blaauwendraad SM, Jaddoe VWV, Gaillard R, Parkin PC, Borkhoff CM, Keown-Stoneman CDG, Birken CS, Maguire JL; Genes & Health Research Team; Bahlo M, Davidson E, Pasricha SR. Braat S, et al. Among authors: bahlo m. medRxiv [Preprint]. 2023 May 25:2023.05.22.23290129. doi: 10.1101/2023.05.22.23290129. medRxiv. 2023. PMID: 37292786 Free PMC article. Preprint.
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, Granata T, Grant R, Greenberg DA, Guerrini R, Gundogdu-Eke… See abstract for full author list ➔ Chen S, et al. Among authors: bahlo m. medRxiv [Preprint]. 2024 Sep 20:2023.02.22.23286310. doi: 10.1101/2023.02.22.23286310. medRxiv. 2024. Update in: Nat Neurosci. 2024 Oct;27(10):1864-1879. doi: 10.1038/s41593-024-01747-8. PMID: 36865150 Free PMC article. Updated. Preprint.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Among authors: bahlo m. medRxiv [Preprint]. 2024 Jan 31:2022.08.23.22278845. doi: 10.1101/2022.08.23.22278845. medRxiv. 2024. Update in: Nat Commun. 2024 Aug 22;15(1):7239. doi: 10.1038/s41467-024-51310-z. PMID: 38352438 Free PMC article. Updated. Preprint.
329 results