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Hübers, Annemarie;Huppertz, Hans-Jürgen;Wortmann, Saskia B;Kassubek, Jan.Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder..Mov Disord Clin Pract.2020.7.1.88-90

Staufner, Christian;Peters, Bianca;Wagner, Matias;Alameer, Seham;Barić, Ivo;Broué, Pierre;Bulut, Derya;Church, Joseph A;Crushell, Ellen;Dalgıç, Buket;Das, Anibh M;Dick, Anke;Dikow, Nicola;Dionisi-Vici, Carlo;Distelmaier, Felix;Bozbulut, Neslihan Ekşi;Feillet, François;Gonzales, Emmanuel;Hadzic, Nedim;Hauck, Fabian;Hegarty, Robert;Hempel, Maja;Herget, Theresia;Klein, Christoph;Konstantopoulou, Vassiliki;Kopajtich, Robert;Kuster, Alice;Laass, Martin W;Lainka, Elke;Larson-Nath, Catherine;Leibner, Alexander;Lurz, Eberhard;Mayr, Johannes A;McKiernan, Patrick;Mention, Karine;Moog, Ute;Mungan, Neslihan Onenli;Riedhammer, Korbinian M;Santer, René;Palafoll, Irene Valenzuela;Vockley, Jerry;Westphal, Dominik S;Wiedemann, Arnaud;Wortmann, Saskia B;Diwan, Gaurav D;Russell, Robert B;Prokisch, Holger;Garbade, Sven F;Kölker, Stefan;Hoffmann, Georg F;Lenz, Dominic.Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients..Genet Med.2020.22.3.610-621

Stenton, Sarah L;Kremer, Laura S;Kopajtich, Robert;Ludwig, Christina;Prokisch, Holger.The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics..J Inherit Metab Dis.2020.43.1.25-35

Alston, Charlotte L;Veling, Mike T;Heidler, Juliana;Taylor, Lucie S;Alaimo, Joseph T;Sung, Andrew Y;He, Langping;Hopton, Sila;Broomfield, Alexander;Pavaine, Julija;Diaz, Jullianne;Leon, Eyby;Wolf, Philipp;McFarland, Robert;Prokisch, Holger;Wortmann, Saskia B;Bonnen, Penelope E;Wittig, Ilka;Pagliarini, David J;Taylor, Robert W.Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency..Am J Hum Genet.2020.106.1.92-101

Krenn, M.;Tomschik, M.;Rath, J.;Cetin, H.;Grisold, A.;Zulehner, G.;Milenkovic, I.;Stogmann, E.;Zimprich, A.;Strom, T. M.;Meitinger, T.;Wagner, M.;Zimprich, F..Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach..Eur J Neurol.2020.27.1.51-61