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Page 1
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: beck wodl s. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: beck wodl s. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Novel Variants of SOX4 in Patients with Intellectual Disability.
Grosse M, Kuechler A, Dabir T, Spranger S, Beck-Wödl S, Bertrand M, Haack TB, Grasemann C, Manka E, Depienne C, Kaiser FJ. Grosse M, et al. Among authors: beck wodl s. Int J Mol Sci. 2023 Feb 9;24(4):3519. doi: 10.3390/ijms24043519. Int J Mol Sci. 2023. PMID: 36834931 Free PMC article.
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.
Santhanakumaran V, Groeschel S, Harzer K, Kehrer C, Elgün S, Beck-Wödl S, Hengel H, Schöls L, Haack TB, Krägeloh-Mann I, Laugwitz L. Santhanakumaran V, et al. Among authors: beck wodl s. Mol Genet Metab. 2023 Mar;138(3):107372. doi: 10.1016/j.ymgme.2023.107372. Epub 2023 Feb 3. Mol Genet Metab. 2023. PMID: 36739646 No abstract available.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: beck wodl s. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 Free PMC article.
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Santhanakumaran V, Groeschel S, Harzer K, Kehrer C, Elgün S, Beck-Wödl S, Hengel H, Schöls L, Haack TB, Krägeloh-Mann I, Laugwitz L. Santhanakumaran V, et al. Among authors: beck wodl s. Mol Genet Metab. 2022 Nov;137(3):273-282. doi: 10.1016/j.ymgme.2022.09.009. Epub 2022 Sep 30. Mol Genet Metab. 2022. PMID: 36240581 Free article.
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert-Lo R, Baumann S, Schäferhoff K, Bertrand M, Menden B, Sturm M, Schütz L, Riess O, Ossowski S, Haack TB, Kagan KO. Dufke A, et al. Among authors: beck wodl s. Prenat Diagn. 2022 Jun;42(7):901-910. doi: 10.1002/pd.6170. Epub 2022 May 20. Prenat Diagn. 2022. PMID: 35574990
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Among authors: beck wodl s. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
Patient-individual phenotypes of glioblastoma stem cells are conserved in culture and associate with radioresistance, brain infiltration and patient prognosis.
Ganser K, Eckert F, Riedel A, Stransky N, Paulsen F, Noell S, Krueger M, Schittenhelm J, Beck-Wödl S, Zips D, Ruth P, Huber SM, Klumpp L. Ganser K, et al. Among authors: beck wodl s. Int J Cancer. 2022 May 15;150(10):1722-1733. doi: 10.1002/ijc.33950. Epub 2022 Feb 14. Int J Cancer. 2022. PMID: 35085407 Free article.
34 results