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Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder.
Amare AT, Thalamuthu A, Schubert KO, Fullerton JM, Ahmed M, Hartmann S, Papiol S, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hou L, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Hasler R, Richard-Lepouriel H, Perroud N, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, Bengesser S, Biernacka JM, Birner A, Marie-Claire C, Cervantes P, Chen HC, Chillotti C, Cichon S, Cruceanu C, Czerski PM, Dalkner N, Del Zompo M, DePaulo JR, Étain B, Jamain S, Falkai P, Forstner AJ, Frisen L, Frye MA, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Fallgatter AJ, Stegmaier S, Ethofer T, Biere S, Petrova K, Schuster C, Adorjan K, Budde M, Heilbronner M, Kalman JL, Kohshour MO, Reich-Erkelenz D, Schaupp SK, Schulte EC, Senner F, Vogl T, Anghelescu IG, Arolt V, Dannlowski U, Dietrich D, Figge C, Jäger M, Lang FU, Juckel G, Konrad C, Reimer J, Schmauß M, Schmitt A, Spitzer C, von Hagen M, Wiltfang J, Zimmermann J, Andlauer TFM, Fischer A, Bermpohl F, Ritter P, Matura S, Gryaznova A, Falkenberg I, Yildiz C, Kircher T, Schmidt J, Koch M, Gade K, Trost S, Haussleiter IS, Lambert M, Rohenkohl AC, Kraft V, Grof P, Hashimoto R, Hauser J, Herms S, Hoffmann P,… See abstract for full author list ➔ Amare AT, et al. Among authors: schmidt j. Mol Psychiatry. 2023 Dec;28(12):5251-5261. doi: 10.1038/s41380-023-02149-1. Epub 2023 Jul 11. Mol Psychiatry. 2023. PMID: 37433967 Free PMC article.
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber MK, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G, Wollnik B. Schmidt J, et al. Front Cell Dev Biol. 2022 Nov 16;10:1025332. doi: 10.3389/fcell.2022.1025332. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36467423 Free PMC article.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Boschann F, Cogulu O, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, Hägerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J. Boschann F, et al. Among authors: schmidt j. Genet Med. 2023 May;25(5):100799. doi: 10.1016/j.gim.2023.100799. Epub 2023 Feb 28. Genet Med. 2023. PMID: 36853234 Free article. No abstract available.
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema.
Recke A, Massalme EG, Jappe U, Steinmüller-Magin L, Schmidt J, Hellenbroich Y, Hüning I, Gillessen-Kaesbach G, Zillikens D, Hartmann K. Recke A, et al. Among authors: schmidt j. Clin Transl Allergy. 2019 Feb 14;9:9. doi: 10.1186/s13601-019-0247-x. eCollection 2019. Clin Transl Allergy. 2019. PMID: 30809376 Free PMC article.
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B. Schmidt J, et al. Hum Genet. 2021 Dec;140(12):1679-1693. doi: 10.1007/s00439-021-02347-3. Epub 2021 Sep 20. Hum Genet. 2021. PMID: 34545459 Free PMC article.
6,431 results