Oberlack, Ava;Wagner, Matias
Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies.
Neuropediatrics
2026
57
1
5-16

Engel, Johanna;Dzinovic, Ivana;Zech, Michael;Janzarik, Wibke G
Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia.
Neuropediatrics
2026
57
1
65-68

Grosch, Melanie;Haak, Jan René;Kolb, Cathiana;Plogmann, Izabela;Guaragna, Mara Sanches;Wiesener, Antje;Pasutto, Francesca;Wopperer, Florian J;Pollinger, Lena;Engel, Felix B;Wiesener, Michael S;Schiffer, Mario;Jobst-Schwan, Tilman
ACTN4 p.Ile150Met Causes FSGS With Validation in Primary Fibroblasts and Immortalized Podocytes.
Kidney Int Rep
2026
11
2

Schmieder, Raphael S;Krefting, Johannes;Ates, Sara;Schlieben, Lea Dewi;Arens, Stefan;Kordonouri, Olga;Sander, Michaela;Holdenrieder, Stefan;Mall, Volker;Meitinger, Thomas;von Scheidt, Moritz;Koenig, Wolfgang;Leipold, Georg;Prokisch, Holger;Schunkert, Heribert;Sanin, Veronika
Clinical scores fail to sufficiently identify children with familial hypercholesterolaemia.
Eur J Prev Cardiol
2026
33
3
361-369

Jacob, Maureen;Kölbel, Heike;Harrer, Philip;Kopajtich, Robert;Munot, Pinki;Achleitner, Melanie T;Badmann, Susann;Brugger, Melanie;Brunet, Theresa;Bonne, Gisèle;Codina, Marta;Ebner, Laura;Eshraghi, Peyman;Eyring, Katharina;Farhat, Ahmad Shah;Feichtinger, René G;Graf, Elisabeth;Marcé-Grau, Anna;Hahn, Andreas;Houlden, Henry;Karimiani, Ehsan Ghayoor;Manel, Véronique;Mayerhanser, Katharina;Nectoux, Juliette;Nelson, Isabelle;Phadke, Rahul;Prokisch, Holger;Sadeghian, Saeid;Saparov, Alice;Schänzer, Anne;Schara-Schmidt, Ulrike;Schmidt, Julia;Schuler, Rahel;Sewry, Caroline;Shariati, Gholamreza;Slanz, Silke;Smirnov, Dmitrii;Sukenik-Halevy, Rivka;Tajsharghi, Homa;Toosi, Mehran Beiraghi;Trujillano, Laura;Weis, Joachim;Wilson, Louise C;Yaou, Rabah Ben;Zamani, Mina;Zech, Michael;Zschüntzsch, Jana;Kornak, Uwe;Goméz-Andrés, David;Maroofian, Reza;Winkelmann, Juliane;Roos, Andreas;Distelmaier, Felix;Mayr, Johannes A;Wagner, Matias
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Brain
2026
149
2
653-667

Yao, Yueli;Wolf, Kathrin;Breitner, Susanne;Zhang, Siqi;Waldenberger, Melanie;Winkelmann, Juliane;Schneider, Alexandra;Peters, Annette
Long-term exposure to traffic-related air pollution is associated with epigenetic age acceleration.
Environ Res
2026
288
Pt 2

Eising, Else;Dzinovic, Ivana;Vino, Arianna;Stipdonk, Lottie;Pavlov, Martin;Winkelmann, Juliane;Sommer, Martin;Franken, Marie-Christine J P;Oexle, Konrad;Fisher, Simon E
De novo protein-coding gene variants in developmental stuttering.
Mol Psychiatry
2026
31
1
104-115

Peymani, Fatemeh;Ebihara, Tomohiro;Smirnov, Dmitrii;Kopajtich, Robert;Ando, Masahiro;Bertini, Enrico;Carrozzo, Rosalba;Diodato, Daria;Distelmaier, Felix;Fang, Fang;Ghezzi, Daniele;Hempel, Maja;Iwanicka-Pronicka, Katarzyna;Klopstock, Thomas;Stenton, Sarah L;Lamperti, Costanza;Liu, Zhimei;Murtazina, Aysylu;Okamoto, Yuji;Okazaki, Yasushi;Piekutowska-Abramczuk, Dorota;Rötig, Agnés;Ryzhkova, Oxana;Schlein, Christian;Shagina, Olga;Takashima, Hiroshi;Tsygankova, Polina;Zech, Michael;Meitinger, Thomas;Shimura, Masaru;Murayama, Kei;Prokisch, Holger
Pleiotropic effects of MORC2 derive from its epigenetic signature.
Brain
2026
149
1
163-177

Loderbauer, Lisa;Knaup, Karl X;Reisenbüchler, Daniel;Kaiser, Nicolas;Naas, Stephanie;Schneider, Karen;Wopperer, Florian J;Wiesener, Antje;Pasutto, Francesca;Schiffer, Mario;Daniel, Christoph;Broeker, Katharina A E;Merhof, Dorit;Buettner-Herold, Maike;Wiesener, Michael S
Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.
Kidney Int Rep
2026
11
2

Sorrentino, Ugo;Pavlov, Martin;Mirza-Schreiber, Nazanin;Brugger, Melanie;Brunet, Theresa;Tsoma, Eugenia;Saparov, Alice;Dzinovic, Ivana;Harrer, Philip;Stehr, Antonia M;Wagner, Matias;Tilch, Erik;Wallacher, Barbara;Alhasan, Shiraz;Koy, Anne;Di Fonzo, Alessio;Kolnikova, Miriam;Kusikova, Katarina;Havrankova, Petra;Tautanova, Raushana;Lösecke, Sandy;Eck, Sebastian;Boesch, Sylvia;Necpal, Jan;Skorvanek, Matej;Jech, Robert;Prokisch, Holger;Winkelmann, Juliane;Oexle, Konrad;Graf, Elisabeth;Zech, Michael
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
Mov Disord
2026
41
1
70-83