Publications

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Filters: Author is Wagner, Matias  [Clear All Filters]
2021
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TChand, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 ;23(9):1715-1725.
Yap ZYie, Park YHan, Wortmann SB, Gunning AC, Ezer S, Lee S, Duraine L, Wilichowski E, Wilson K, Mayr JA, Wagner M, Li H, Kini U, Black EDavis, Monaghan KG, Lupski JR, Ellard S, Westphal DS, Harel T, Yoon WHee. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 ;13(1):55.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AOkay, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PMohan, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. J Med Genet. 2021 ;.