Publications

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Filters: Author is Wortmann, Saskia B and Keyword is Humans  [Clear All Filters]
2021
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.
2020
Lenz D, Smith DEC, Crushell E, Husain RA, Salomons GS, Alhaddad B, Bernstein JA, Bianzano A, Biskup S, Brennenstuhl H, Caldari D, Dikow N, Haack TB, Hanson-Kahn A, Harting I, Horn D, Hughes J, Huijberts M, Isidor B, Kathemann S, Kopajtich R, Kotzaeridou U, Küry S, Lainka E, Laugwitz L, Lupski JR, Posey JE, Reynolds C, Rosenfeld JA, Schröter J, Vansenne F, Wagner M, Weiß C, Wolffenbuttel BHR, Wortmann SB, Kölker S, Hoffmann GF, Prokisch H, Mendes MI, Staufner C. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med. 2020 ;22(11):1863-1873.
2019
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Akdemir ZCoban, Hui J, Yeung WLan, K Y Wong B, Ortega L, Bekheirnia MReza, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikaşifoğlu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JPaulo, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, V Sutton R, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 ;105(2):302-316.
2015
Huemer M, Karall D, Schossig A, Abdenur JE, Jasmi FAl, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015 ;38(5):905-14.