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Page 1
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Teunissen MWA, Lewerissa E, van Hugte EJH, Wang S, Ockeloen CW, Koolen DA, Pfundt R, Marcelis CLM, Brilstra E, Howe JL, Scherer SW, Le Guillou X, Bilan F, Primiano M, Roohi J, Piton A, de Saint Martin A, Baer S, Seiffert S, Platzer K, Jamra RA, Syrbe S, Doering JH, Lakhani S, Nangia S, Gilissen C, Vermeulen RJ, Rouhl RPW, Brunner HG, Willemsen MH, Nadif Kasri N. Teunissen MWA, et al. Among authors: marcelis clm. Hum Mol Genet. 2023 Jul 4;32(14):2373-2385. doi: 10.1093/hmg/ddad081. Hum Mol Genet. 2023. PMID: 37195288 Free PMC article.
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H. Mingardo E, et al. Among authors: marcelis clm. Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. Commun Biol. 2022. PMID: 36352089 Free PMC article.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: marcelis clm. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 Free PMC article.
Maternal risk associated with the VACTERL association: A case-control study.
van de Putte R, de Walle HEK, van Hooijdonk KJM, de Blaauw I, Marcelis CLM, van Heijst A, Giltay JC, Renkema KY, Broens PMA, Brosens E, Sloots CEJ, Bergman JEH, Roeleveld N, van Rooij IALM. van de Putte R, et al. Among authors: marcelis clm. Birth Defects Res. 2020 Nov;112(18):1495-1504. doi: 10.1002/bdr2.1773. Epub 2020 Jul 22. Birth Defects Res. 2020. PMID: 33179873 Free PMC article.
SLC20A1 Is Involved in Urinary Tract and Urorectal Development.
Rieke JM, Zhang R, Braun D, Yilmaz Ö, Japp AS, Lopes FM, Pleschka M, Hilger AC, Schneider S, Newman WG, Beaman GM, Nordenskjöld A, Ebert AK, Promm M, Rösch WH, Stein R, Hirsch K, Schäfer FM, Schmiedeke E, Boemers TM, Lacher M, Kluth D, Gosemann JH, Anderberg M, Barker G, Holmdahl G, Läckgren G, Keene D, Cervellione RM, Giorgio E, Di Grazia M, Feitz WFJ, Marcelis CLM, Van Rooij IALM, Bökenkamp A, Beckers GMA, Keegan CE, Sharma A, Dakal TC, Wittler L, Grote P, Zwink N, Jenetzky E, Brusco A, Thiele H, Ludwig M, Schweizer U, Woolf AS, Odermatt B, Reutter H. Rieke JM, et al. Among authors: marcelis clm. Front Cell Dev Biol. 2020 Aug 7;8:567. doi: 10.3389/fcell.2020.00567. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32850778 Free PMC article.
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A. van de Putte R, et al. Among authors: marcelis clm. Front Pediatr. 2020 Jun 23;8:310. doi: 10.3389/fped.2020.00310. eCollection 2020. Front Pediatr. 2020. PMID: 32656166 Free PMC article.
Maternal risk factors for the VACTERL association: A EUROCAT case-control study.
van de Putte R, van Rooij IALM, Haanappel CP, Marcelis CLM, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Khoshnood B, Kinsner-Ovaskainen A, Klungsoyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Bergman JEH, Roeleveld N. van de Putte R, et al. Among authors: marcelis clm. Birth Defects Res. 2020 May 15;112(9):688-698. doi: 10.1002/bdr2.1686. Epub 2020 Apr 22. Birth Defects Res. 2020. PMID: 32319733 Free PMC article.
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lanzoni M, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Roeleveld N, Bergman JEH. van de Putte R, et al. Among authors: marcelis clm. Pediatr Res. 2020 Feb;87(3):541-549. doi: 10.1038/s41390-019-0561-y. Epub 2019 Sep 9. Pediatr Res. 2020. PMID: 31499513
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.
van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM, Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de Klein A, Brooks AS, Hofstra RMW, Holsink SAC, van der Zanden LFM, Galesloot TE, Tam PK, Steehouwer M, Acuna-Hidalgo R, Vorst MV, Kiemeney LA, Garcia-Barceló MM, de Blaauw I, Brunner HG, Roeleveld N, van Rooij IALM. van de Putte R, et al. Among authors: marcelis clm. PLoS One. 2019 May 28;14(5):e0217477. doi: 10.1371/journal.pone.0217477. eCollection 2019. PLoS One. 2019. PMID: 31136621 Free PMC article. Clinical Trial.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: marcelis clm. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
47 results