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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, Posey JE, Lupski JR, Repetto GM. Poli MC, et al. Among authors: fischer s. Eur J Hum Genet. 2024 Oct;32(10):1227-1237. doi: 10.1038/s41431-023-01523-5. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177409 Free PMC article.
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Jerez PÁ, Wild Crea PA, Ramos DM, Gustavsson EK, Radefeldt M, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu C, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Jerez PÁ, et al. Among authors: fischer s. medRxiv [Preprint]. 2024 Feb 24:2024.02.20.24302827. doi: 10.1101/2024.02.20.24302827. medRxiv. 2024. PMID: 39802803 Free PMC article. Preprint.
Hemorrhage Incognito.
Borgetti S, Ortell K, Phadke V, Haakinson D, Fischer S, Malinis M. Borgetti S, et al. Among authors: fischer s. Transpl Infect Dis. 2025 Jan 10:e14433. doi: 10.1111/tid.14433. Online ahead of print. Transpl Infect Dis. 2025. PMID: 39791929 No abstract available.
3,792 results