Boonsimma, Ponghatai;Michael Gasser, Marius;Netbaramee, Wiracha;Wechapinan, Thanin;Srichomthong, Chalurmpon;Ittiwut, Chupong;Wagner, Matias;Krenn, Martin;Zimprich, Fritz;Abicht, Angela;Biskup, Saskia;Roser, Timo;Borggraefe, Ingo;Suphapeetiporn, Kanya;Shotelersuk, Vorasuk
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
Gene
2020
749

Wagner, Matias;Skorobogatko, Yuliya;Pode-Shakked, Ben;Powell, Cynthia M;Alhaddad, Bader;Seibt, Annette;Barel, Ortal;Heimer, Gali;Hoffmann, Chen;Demmer, Laurie A;Perilla-Young, Yezmin;Remke, Marc;Wieczorek, Dagmar;Navaratnarajah, Tharsini;Lichtner, Peter;Klee, Dirk;Shamseldin, Hanan E;Al Mutairi, Fuad;Mayatepek, Ertan;Strom, Tim;Meitinger, Thomas;Alkuraya, Fowzan S;Anikster, Yair;Saltiel, Alan R;Distelmaier, Felix
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Am J Hum Genet
2020
106
2
246-255

Westphal, Dominik S;Burkard, Tobias;Moscu-Gregor, Alexander;Gebauer, Roman;Hessling, Gabriele;Wolf, Cordula M
Reclassification of genetic variants in children with long QT syndrome.
Mol Genet Genomic Med
2020
8
9

Werning, Maike;Müllner, Ernst W;Mlynek, Georg;Dobretzberger, Verena;Djinovic-Carugo, Kristina;Baron, David M;Prokisch, Holger;Büchner, Boriana;Klopstock, Thomas;Salzer, Ulrich
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Ann Clin Transl Neurol
2020
7
8
1340-1351

Ascari, Giulia;Peelman, Frank;Farinelli, Pietro;Rosseel, Toon;Lambrechts, Nina;Wunderlich, Kirsten A;Wagner, Matias;Nikopoulos, Konstantinos;Martens, Pernille;Balikova, Irina;Derycke, Lara;Holtappels, Gabriële;Krysko, Olga;Van Laethem, Thalia;De Jaegere, Sarah;Guillemyn, Brecht;De Rycke, Riet;De Bleecker, Jan;Creytens, David;Van Dorpe, Jo;Gerris, Jan;Bachert, Claus;Neuhofer, Christiane;Walraedt, Sophie;Bischoff, Almut;Pedersen, Lotte B;Klopstock, Thomas;Rivolta, Carlo;Leroy, Bart P;De Baere, Elfride;Coppieters, Frauke
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
2020
41
5
998-1011

Tan, Jing;Wagner, Matias;Stenton, Sarah L;Strom, Tim M;Wortmann, Saskia B;Prokisch, Holger;Meitinger, Thomas;Oexle, Konrad;Klopstock, Thomas
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
EBioMedicine
2020
54

Steel, Dora;Zech, Michael;Zhao, Chen;Barwick, Katy E S;Burke, Derek;Demailly, Diane;Kumar, Kishore R;Zorzi, Giovanna;Nardocci, Nardo;Kaiyrzhanov, Rauan;Wagner, Matias;Iuso, Arcangela;Berutti, Riccardo;Škorvánek, Matej;Necpál, Ján;Davis, Ryan;Wiethoff, Sarah;Mankad, Kshitij;Sudhakar, Sniya;Ferrini, Arianna;Sharma, Suvasini;Kamsteeg, Erik-Jan;Tijssen, Marina A;Verschuuren, Corien;van Egmond, Martje E;Flowers, Joanna M;McEntagart, Meriel;Tucci, Arianna;Coubes, Philippe;Bustos, Bernabe I;Gonzalez-Latapi, Paulina;Tisch, Stephen;Darveniza, Paul;Gorman, Kathleen M;Peall, Kathryn J;Bötzel, Kai;Koch, Jan C;Kmieć, Tomasz;Plecko, Barbara;Boesch, Sylvia;Haslinger, Bernhard;Jech, Robert;Garavaglia, Barbara;Wood, Nick;Houlden, Henry;Gissen, Paul;Lubbe, Steven J;Sue, Carolyn M;Cif, Laura;Mencacci, Niccolò E;Anderson, Glenn;Kurian, Manju A;Winkelmann, Juliane
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
2020
88
5
867-877

Gold, Nina B;Li, Dong;Chassevent, Anna;Kaiser, Frank J;Parenti, Ilaria;Strom, Tim M;Ramos, Feliciano J;Puisac, Beatriz;Pié, Juan;McWalter, Kirsty;Guillen Sacoto, Maria J;Cui, Hong;Saadeh-Haddad, Reem;Smith-Hicks, Constance;Rodan, Lance;Blair, Edward;Bhoj, Elizabeth
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Clin Genet
2020
98
6
571-576

Hopfner, Franziska;Mueller, Stefanie H;Szymczak, Silke;Junge, Olaf;Tittmann, Lukas;May, Sandra;Lohmann, Katja;Grallert, Harald;Lieb, Wolfgang;Strauch, Konstantin;Müller-Nurasyid, Martina;Berger, Klaus;Schormair, Barbara;Winkelmann, Juliane;Mollenhauer, Brit;Trenkwalder, Claudia;Maetzler, Walter;Berg, Daniela;Kasten, Meike;Klein, Christine;Höglinger, Günter U;Gasser, Thomas;Deuschl, Günther;Franke, André;Krawczak, Michael;Dempfle, Astrid;Kuhlenbäumer, Gregor
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.
Mov Disord
2020
35
7
1245-1248

Coassin, Stefan;Hermann-Kleiter, Natascha;Haun, Margot;Wahl, Simone;Wilson, Rory;Paulweber, Bernhard;Kunze, Sonja;Meitinger, Thomas;Strauch, Konstantin;Peters, Annette;Waldenberger, Melanie;Kronenberg, Florian;Lamina, Claudia
A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter.
PLoS ONE
2020
15
4