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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: maj c. Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. Commun Biol. 2022. PMID: 36352089 Free PMC article.
The role of the potassium channel gene KCNK2 in major depressive disorder.
Congiu C, Minelli A, Bonvicini C, Bortolomasi M, Sartori R, Maj C, Scassellati C, Maina G, Trabucchi L, Segala M, Gennarelli M. Congiu C, et al. Among authors: maj c. Psychiatry Res. 2015 Feb 28;225(3):489-92. doi: 10.1016/j.psychres.2014.11.061. Epub 2014 Dec 9. Psychiatry Res. 2015. PMID: 25535009 Free article.
RNA sequencing of bipolar disorder lymphoblastoid cell lines implicates the neurotrophic factor HRP-3 in lithium's clinical efficacy.
Milanesi E, Voinsky I, Hadar A, Srouji A, Maj C, Shekhtman T, Gershovits M, Gilad S, Chillotti C, Squassina A, Potash JB, Schulze TG, Goes FS, Zandi P, Kelsoe JR, Gurwitz D. Milanesi E, et al. Among authors: maj c. World J Biol Psychiatry. 2019 Jul;20(6):449-461. doi: 10.1080/15622975.2017.1372629. Epub 2017 Sep 22. World J Biol Psychiatry. 2019. PMID: 28854847
Extending the allelic spectrum at noncoding risk loci of orofacial clefting.
Thieme F, Henschel L, Hammond NL, Ishorst N, Hausen J, Adamson AD, Biedermann A, Bowes J, Zieger HK, Maj C, Kruse T, Buness A, Hoischen A, Gilissen C, Kreusch T, Jäger A, Gölz L, Braumann B, Aldhorae K, Rojas-Martinez A, Krawitz PM, Mangold E, Dixon MJ, Ludwig KU. Thieme F, et al. Among authors: maj c. Hum Mutat. 2021 Aug;42(8):1066-1078. doi: 10.1002/humu.24219. Epub 2021 Jun 3. Hum Mutat. 2021. PMID: 34004033
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.
Schmidt A, Peters S, Knaus A, Sabir H, Hamsen F, Maj C, Fazaal J, Sivalingam S, Savchenko O, Mantri A, Holzinger D, Neudorf U, Müller A, Ludwig KU, Krawitz PM, Engels H, Nöthen MM, Bagci S. Schmidt A, et al. Among authors: maj c. NPJ Genom Med. 2021 Jul 1;6(1):55. doi: 10.1038/s41525-021-00220-w. NPJ Genom Med. 2021. PMID: 34210994 Free PMC article.
89 results