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PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.
Magrinelli F, Tesson C, Angelova PR, Salazar-Villacorta A, Rodriguez JA, Scardamaglia A, Chung BH, Jaconelli M, Vona B, Esteras N, Kwong AK, Courtin T, Maroofian R, Alavi S, Nirujogi R, Severino M, Lewis PA, Efthymiou S, O'Callaghan B, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Cassar M, Hassan BA, Iftikhar S, Rocca C, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Obeso JA, Kurtis MM, Cogan G, Başak AN, Kiziltan G, Gül T, Yalçın G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Raza Alvi J, Sultan T, Azmi Alkhawaja I, Froukh T, E Alrukban HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Lesage S, Bonifati V, Haack TB, Bertoli-Avella AM, Steinfeld R, Alessi DR, Steller H, Brice A, Abramov AY, Bhatia KP, Houlden H. Magrinelli F, et al. Among authors: buchert r. medRxiv [Preprint]. 2024 Jun 20:2024.06.19.24308302. doi: 10.1101/2024.06.19.24308302. medRxiv. 2024. PMID: 39148840 Free PMC article. Preprint.
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Rapp CK, Van Dijck I, Laugwitz L, Boon M, Briassoulis G, Ilia S, Kammer B, Reu S, Hornung S, Buchert R, Sofan L, Froukh T, Witters P, Rymen D, Haack TB, Proesmans M, Griese M. Rapp CK, et al. Among authors: buchert r. Clin Genet. 2021 Oct;100(4):453-461. doi: 10.1111/cge.14016. Epub 2021 Jul 14. Clin Genet. 2021. PMID: 34165204 Review.
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Laugwitz L, Buchert R, Olguín P, Estiar MA, Atanasova M, Jr WM, Enssle J, Marsden B, Avilés J, González-Gutiérrez A, Candia N, Fabiano M, Morlot S, Peralta S, Groh A, Schillinger C, Kuehn C, Sofan L, Sturm M, Bender B, Tomaselli PJ, Diebold U, Mueller AJ, Spranger S, Fuchs M, Freua F, Melo US, Mattas L, Ashtiani S, Suchowersky O, Groeschel S, Rouleau GA, Yosovich K, Michelson M, Leibovitz Z, Bilal M, Uctepe E, Yesilyurt A, Ozdogan O, Celik T, Krägeloh-Mann I, Riess O, Rosewich H, Umair M, Lev D, Zuchner S, Schweizer U, Lynch DS, Gan-Or Z, Haack TB. Laugwitz L, et al. Among authors: buchert r. Am J Hum Genet. 2025 Jan 2;112(1):168-180. doi: 10.1016/j.ajhg.2024.12.001. Am J Hum Genet. 2025. PMID: 39753114 Free article.
Bain type of X-linked syndromic mental retardation in boys.
Harmsen S, Buchert R, Mayatepek E, Haack TB, Distelmaier F. Harmsen S, et al. Among authors: buchert r. Clin Genet. 2019 Jun;95(6):734-735. doi: 10.1111/cge.13524. Epub 2019 Mar 18. Clin Genet. 2019. PMID: 30887513
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T, Nafie O, Al Hait SAS, Laugwitz L, Sommerfeld J, Sturm M, Baraghiti A, Issa T, Al-Nazer A, Koch PA, Hanselmann J, Kootz B, Bauer P, Al-Ameri W, Abou Jamra R, Alfrook AJ, Hamadallah M, Sofan L, Riess A, Haack TB, Riess O, Buchert R. Froukh T, et al. Among authors: buchert r. Clin Genet. 2020 Apr;97(4):621-627. doi: 10.1111/cge.13720. Epub 2020 Mar 1. Clin Genet. 2020. PMID: 32056211
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
Bilal M, Haack TB, Buchert R, Peralta S, Uddin N, Ali RH, Liaqat K, Ahmad W. Bilal M, et al. Among authors: buchert r. Mol Syndromol. 2023 Jun;14(3):201-207. doi: 10.1159/000528651. Epub 2023 Feb 1. Mol Syndromol. 2023. PMID: 37323198 Free PMC article.
283 results