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Page 1
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C. Gregor A, et al. Among authors: stobe p. Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265. Hum Mol Genet. 2022. PMID: 34505148 Free PMC article.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. Platzer K, et al. Among authors: stobe p. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3. Am J Hum Genet. 2019. PMID: 30612693 Free PMC article.
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: stobe p. 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.
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Park J, Reilaender A, Petry-Schmelzer JN, Stöbe P, Cordts I, Harmuth F, Rautenberg M, Woerz SE, Demidov G, Sturm M, Ossowski S, Schwaibold EMC, Wunderlich G, Paus S, Saft C, Haack TB. Park J, et al. Among authors: stobe p. Neurol Genet. 2021 Dec 7;8(1):e644. doi: 10.1212/NXG.0000000000000644. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34901436 Free PMC 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: stobe p. Prenat Diagn. 2022 Jun;42(7):901-910. doi: 10.1002/pd.6170. Epub 2022 May 20. Prenat Diagn. 2022. PMID: 35574990
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS. Moawia A, et al. Among authors: stobe p. Ann Neurol. 2017 Oct;82(4):562-577. doi: 10.1002/ana.25044. Epub 2017 Oct 14. Ann Neurol. 2017. PMID: 28892560
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Fehr S, Biskup S, Haack TB, Stöbe P, Heyd A, Harre J, Lesinski-Schiedat A, Büchner A, Lenarz T, Warnecke A, Müller M, Vona B, Dahlhoff E, Löwenheim H, Holderried M. Tropitzsch A, et al. Among authors: stobe p. Ear Hear. 2023 Nov-Dec 01;44(6):1464-1484. doi: 10.1097/AUD.0000000000001386. Epub 2023 Jul 13. Ear Hear. 2023. PMID: 37438890 Free PMC article.
Multifactorial regulation of a hox target gene.
Stöbe P, Stein MA, Habring-Müller A, Bezdan D, Fuchs AL, Hueber SD, Wu H, Lohmann I. Stöbe P, et al. PLoS Genet. 2009 Mar;5(3):e1000412. doi: 10.1371/journal.pgen.1000412. Epub 2009 Mar 13. PLoS Genet. 2009. PMID: 19282966 Free PMC article.
12 results