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27 results

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Page 1
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Marcogliese PC, et al. Among authors: schwaibold emc. Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517. Cell Rep. 2022. PMID: 35294868 Free PMC article.
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: schwaibold emc. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Mirza-Schreiber N, et al. Among authors: schwaibold emc. Brain. 2022 Apr 18;145(2):644-654. doi: 10.1093/brain/awab360. Brain. 2022. PMID: 34590685
Trio exome sequencing is highly relevant in prenatal diagnostics.
Gabriel H, Korinth D, Ritthaler M, Schulte B, Battke F, von Kaisenberg C, Wüstemann M, Schulze B, Friedrich-Freksa A, Pfeiffer L, Entezami M, Schröer A, Bürger J, Schwaibold EMC, Lebek H, Biskup S. Gabriel H, et al. Among authors: schwaibold emc. Prenat Diagn. 2022 Jun;42(7):845-851. doi: 10.1002/pd.6081. Epub 2021 Dec 27. Prenat Diagn. 2022. PMID: 34958143 Free PMC article.
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Carstens PO, Schwaibold EMC, Schregel K, Obermaier CD, Wrede A, Zechel S, Pauli S, Schmidt J. Carstens PO, et al. Among authors: schwaibold emc. Neurol Genet. 2019 Apr 26;5(3):e327. doi: 10.1212/NXG.0000000000000327. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31192301 Free PMC article. No abstract available.
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
Schwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S. Schwaibold EM, et al. Mol Cytogenet. 2014 Oct 23;7(1):74. doi: 10.1186/s13039-014-0074-7. eCollection 2014. Mol Cytogenet. 2014. PMID: 25349628 Free PMC article.
27 results