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SHANK1 Deletions in Males with Autism Spectrum Disorder.
Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold GA, Marshall CR, Bourgeron T, Szatmari P, Scherer SW. Sato D, et al. Among authors: roeth r. Am J Hum Genet. 2012 May 4;90(5):879-87. doi: 10.1016/j.ajhg.2012.03.017. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503632 Free PMC article.
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA. Montalbano A, et al. Among authors: roeth r. EMBO Mol Med. 2016 Dec 1;8(12):1455-1469. doi: 10.15252/emmm.201606623. Print 2016 Dec. EMBO Mol Med. 2016. PMID: 27861128 Free PMC article.
Investigation of SHANK3 in schizophrenia.
de Sena Cortabitarte A, Degenhardt F, Strohmaier J, Lang M, Weiss B, Roeth R, Giegling I, Heilmann-Heimbach S, Hofmann A, Rujescu D, Fischer C, Rietschel M, Nöthen MM, Rappold GA, Berkel S. de Sena Cortabitarte A, et al. Among authors: roeth r. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):390-398. doi: 10.1002/ajmg.b.32528. Epub 2017 Mar 28. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28371232
Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation.
Hoffmann S, Paone C, Sumer SA, Diebold S, Weiss B, Roeth R, Clauss S, Klier I, Kääb S, Schulz A, Wild PS, Ghrib A, Zeller T, Schnabel RB, Just S, Rappold GA. Hoffmann S, et al. Among authors: roeth r. Front Genet. 2019 Jul 11;10:648. doi: 10.3389/fgene.2019.00648. eCollection 2019. Front Genet. 2019. PMID: 31354791 Free PMC article.
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
Choukair D, Eberle B, Vick P, Hermanns P, Weiss B, Paramasivam N, Schlesner M, Lornsen K, Roeth R, Klutmann C, Kreis J, Hoffmann GF, Pohlenz J, Rappold GA, Bettendorf M. Choukair D, et al. Among authors: roeth r. Horm Res Paediatr. 2020;93(1):16-29. doi: 10.1159/000507114. Epub 2020 May 19. Horm Res Paediatr. 2020. PMID: 32428920
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