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FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P; DDD Study; Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C. Reuter MS, et al. Among authors: glaser d. J Med Genet. 2017 Jan;54(1):64-72. doi: 10.1136/jmedgenet-2016-104094. Epub 2016 Aug 29. J Med Genet. 2017. PMID: 27572252
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB. Falb RJ, et al. Among authors: glaser d. J Med Genet. 2023 Jan;60(1):48-56. doi: 10.1136/jmedgenet-2021-108064. Epub 2021 Nov 5. J Med Genet. 2023. PMID: 34740919 Free PMC article.
Novel SLC9A6 mutations in two families with Christianson syndrome.
Riess A, Rossier E, Krüger R, Dufke A, Beck-Woedl S, Horber V, Alber M, Gläser D, Riess O, Tzschach A. Riess A, et al. Among authors: glaser d. Clin Genet. 2013 Jun;83(6):596-7. doi: 10.1111/j.1399-0004.2012.01948.x. Epub 2012 Aug 30. Clin Genet. 2013. PMID: 22931061 No abstract available.
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.
Laššuthová P, Vill K, Erdem-Ozdamar S, Schröder JM, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedláčková L, Staněk D, Mazanec R, Weis J, Seeman P, Senderek J. Laššuthová P, et al. Among authors: glaser d. Clin Genet. 2018 Nov;94(5):467-472. doi: 10.1111/cge.13417. Epub 2018 Aug 14. Clin Genet. 2018. PMID: 30028002 Review.
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J. Vill K, et al. Among authors: glaser d. Hum Genet. 2018 Dec;137(11-12):911-919. doi: 10.1007/s00439-018-1952-6. Epub 2018 Nov 21. Hum Genet. 2018. PMID: 30460542
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Among authors: glaser d. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
584 results