Publikationen 2025

Bergmann C, Chenguiti Fakhouri S, Trinh-Minh T, Filla T, Rius Rigau A, Ekici AB, Merlevede B, Hallenberger L, Zhu H, Dees C, Matei AE, Auth J, Györfi AH, Zhou X, Rauber S, Bozec A, Dickel N, Liang C, Kunz M, Schett G, Distler JHW: (2025) Mutual Amplification of GLI2/Hedgehog and Transcription Factor JUN/AP-1 Signaling in Fibroblasts in Systemic Sclerosis: Potential Implications for Combined Therapies. Arthritis Rheumatol. 2025;77(1): 92-98
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC, C4RCD Research Group , Telethon Undiagnosed Disease Program (TUDP) , University of Washington Center for Mendelian Genomics (UW-CMG) , de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C, Ramsey K, Peron A, Accogli A, Capra V, Morleo M, Scala M, Zollino M: (2025) BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. Eur J Hum Genet. 2025;33(3): 312-324
De Hayr L, Blok LER, Dias KR, Long J, Begemann A, Moir RD, Willis IM, Mocera M, Siegel G, Steindl K, Evans CA, Zhu Y, Zhang F, Field M, Ma A, Adès L, Josephi-Taylor S, Pfundt R, Zaki MS, Tomoum H, Gregor A, Laube J, Reis A, Maddirevula S, Hashem MO, Zweier M, Alkuraya FS, Maroofian R, Buckley MF, Gleeson JG, Zweier C, Coll-Tané M, Koolen DA, Rauch A, Roscioli T, Schenck A, Harvey RJ: (2025) Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. Genet Med. 2025;27(1):
Chestnykh D, Mühle C, Schumacher F, Kalinichenko LS, Löber S, Gmeiner P, Alzheimer C, von Hörsten S, Kleuser B, Uebe S, Ekici AB, Gulbins E, Kornhuber J, Jin HK, Bae JS, Lourdusamy A, Müller CP: (2025) Acid sphingomyelinase activity suggests a new antipsychotic pharmaco-treatment strategy for schizophrenia. Mol Psychiatry. 2025;30(7): 2891-2906
Langhammer F, Gregor A, Ntamati NR, Ekici AB, Winner B, Nevian T, Zweier C: (2025) Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy. Hum Mol Genet. 2025;34(7): 639-650
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM: (2025) Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. Am J Hum Genet. 2025;112(1): 75-86
Reis A, Spinath FM: (2025) The Genetics of Intelligence. Dtsch Arztebl Int. 2025;122(2): 38-42
Wilsmann-Theis D, Patt S, Pinter A, Gerdes S, Magnolo N, Németh R, Schmitz J, Paul C, Augustin M, Staubach P, Weyergraf A, Hüffmeier U, Wolk K, Sabat R, Mößner R: (2025) Efficacy and safety of guselkumab in European patients with palmoplantar pustulosis: A multi-center, single-arm clinical trial (GAP study). JAAD Int. 2025;18(): 69-78
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C: (2025) Further delineation of the SCAF4-associated neurodevelopmental disorder. Eur J Hum Genet. 2025;33(5): 588-594
Kollerits B, Kotsis F, Schneider MP, Schultheiss UT, Weissensteiner H, Schönherr S, Forer L, Meiselbach H, Wanner C, Eckardt KU, Dieplinger H, Kronenberg F, GCKD Investigators , Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Alberth-Schmidt U, Weigel A, Marschall S, Schefler E, Walz G, Köttgen A, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Gross A, Schaeffner E, Baid-Agrawal S, Theisen K, Haller H, Zeier M, Sommerer C, Aykac M, Wolf G, Busch M, Steiner A, Sitter T, Krane V, Börner-Klein A, Bauer B, Oefner P, Gronwald W, Schmid M, Nadal J: (2025) Association of Serum Afamin Concentrations With Kidney Failure in Patients With CKD: Findings From the German CKD Cohort Study. Am J Kidney Dis. 2025;85(4): 432-441.e1
Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, Blanc P, Bruno LP, Callewaert B, Capra V, Carullo M, Chesneau B, Coppens S, Curry C, Dale B, Dahlen E, Delahaye-Duriez A, Denommé-Pichon AS, Demeer B, Dvořáková L, Fischer J, Geneviève D, Giacomini T, Handrup MM, Heron D, Hüning I, Iacomino M, Isidor B, Keren B, Kmoch S, Koolen DA, Kübler A, Laštůvková J, Le C, Levy J, Rizzo CL, Maitz S, Marlin S, Mignot C, Mirzaa G, Nagel I, Neuens S, Nosková L, Pao E, Pecková A, Plaisancie J, Porrmann J, Privitera F, Reis A, Renieri A, Rio M, Rippert A, Ryba L, Scala M, Schieving JH, Sherr EH, Shuen A, Sidlow R, Smol T, Soblet J, Striano P, Suri M, Syryn H, Tran Mau-Them F, Travessa AM, Van Gils J, Vasileiou G, Verseput JJA, Vilain C, Vincent-Delorme C, Vyhnálková E, Wakeling EL, Zacher P, Zara F, Kuentz P, Piard J: (2025) Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization. Eur J Hum Genet. 2025;33(8): 989-996
Reis A: (2025) Awarding of the GfH Medal of Honor 2025 to Prof. Dr. med. Stefan Mundlos: Laudatio by Prof. Dr. med. André Reis, Institute of Human Genetics, Universitätsklinikum Erlangen, on the occasion of the 35. GfH Conference on 02.04.2025 in Innsbruck. Med. Genet.. 2025;37(3): 231-232
Furlanetto F, Flegel N, Kremp M, Spear C, Fröb F, Alfonsetti M, Bohl B, Krumbiegel M, Turan S, Reis A, Lie DC, Winkler J, Falk S, Wegner M, Karow M: (2025) A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation. Life Sci Alliance. 2025;8(6):
Schweiger M, Reis A, Gümüslü E, Krebsova A, Raab A, Lang C, Horn D, Sperling K, Neitzel H: (2025) A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes. Mol. Cytogenet.. 2025;18(1):
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, Harris M, Hentschel J, Héron B, Hitz MP, Innes AM, Jadas V, Januel L, Jean-Marçais N, Jobanputra V, Jobic F, Jornea L, Jost C, Julia S, Kaiser FJ, Kaschta D, Kaya S, Ketteler P, Khadija B, Kilpert F, Knopp C, Kraft F, Krey I, Lackmy M, Laffargue F, Lambert L, Lamont R, Laugel V, Laurie S, Lauzon JL, Lebreton L, Lebrun M, Legendre M, Leguern E, Lehalle D, Lejeune E, Lesca G, Lesieur-Sebellin M, Levy J, Linglart A, Lyonnet S, Lüthy K, Ma AS, Mach C, Mandel JL, Mansour-Hendili L, Marcadier J, Marin V, Margot H, Marquet V, May A, Mayr JA, Meridda C, Michaud V, Michot C, Nadeau G, Naudion S, Nguyen L, Nizon M, Nowak F, Odent S, Olin V, Osei-Owusu IA, Osmond M, Õunap K, Pasquier L, Passemard S, Pauly M, Patat O, Pensec M, Perrin-Sabourin L, Petit F, Philippe C, Planes M, Poduri A, Poirsier C, Pouzet A, Prince B, Prouteau C, Pujol A, Racine C, Rama M, Ramond F, Ranguin K, Raway M, Reis A, Renaud M, Revencu N, Richard AC, Riera-Navarro L, Rius R, Rodriguez D, Rodriguez-Palmero A, Rondeau S, Roser-Unruh A, Rougeot Jung C, Safraou H, Satre V, Saugier-Veber P, Sauvestre C, Schaefer E, Shao W, Schanze I, Schlump JU, Schlüter Martin A, Schluth-Bolard C, Schuhmann S, Schröder C, Sebastin M, Sigaudy S, Spielmann M, Spodenkiewicz M, St Clair L, Steffann J, Stoeva R, Surowy H, Tarnopolsky MA, Todosi C, Toutain A, Tran Mau-Them F, Unterlauft A, Van-Gils J, Vanlerberghe C, Vasileiou G, Vera G, Verdel A, Verloes A, Vial Y, Vignal C, Vincent M, Vincent-Delorme C, Vincent-Devulder A, Vitobello A, Weber S, Willems M, Zaafrane-Khachnaoui K, Zacher P, Zeltner L, Ziegler A, Galej WP, Dollfus H, Thauvin C, Boycott KM, Marijon P, Lermine A, Malan V, Rio M, Kuechler A, Isidor B, Drunat S, Smol T, Chatron N, Piton A, Nicolas G, Wagner M, Abou Jamra R, Héron D, Mignot C, Blanc P, O'Donnell-Luria A, Whiffin N, Charbonnier C, Charenton C, Thevenon J, Depienne C: (2025) Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nat Genet. 2025;57(6): 1374-1388
Schubart C, Tögel L, Carta MG, Hetzner P, Helbig L, Zaglas C, Ziegler M, Stöhr R, Hölsken A, Hoyer J, Ferrazzi F, Neufert C, Lettmaier S, Pavel M, Golcher H, Mueller SK, Fuchs F, Schulmeyer CE, Beckmann MW, Wullich B, Agaimy A, Reis A, Hartmann A, Meidenbauer N, Spoerl S, Haller F, Moskalev EA: (2025) Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD? Int J Cancer. 2025;157(5): 964-979
Dand N, Stuart PE, Bowes J, Ellinghaus D, Nititham J, Saklatvala JR, Teder-Laving M, Thomas LF, Traks T, Uebe S, Assmann G, Baudry D, Behrens F, Billi AC, Brown MA, Burkhardt H, Capon F, Chung R, Curtis CJ, Duckworth M, Ellinghaus E, FitzGerald O, Gerdes S, Griffiths CEM, Gulliver S, Helliwell PS, Ho P, Hoffmann P, Holmen OL, Huang ZM, Hveem K, Jadon D, Köhm M, Kraus C, Lamacchia C, Lee SH, Ma F, Mahil SK, McHugh N, McManus R, Modalsli EH, Nissen MJ, Nöthen M, Oji V, Oksenberg JR, Patrick MT, Perez White BE, Ramming A, Rech J, Rosen C, Sarkar MK, Schett G, Schmidt B, Tejasvi T, Traupe H, Voorhees JJ, Wacker EM, Warren RB, Wasikowski R, Weidinger S, Wen X, Zhang Z, BSTOP study group , Estonian Biobank research team , Barton A, Chandran V, Esko T, Foerster J, Franke A, Gladman DD, Gudjonsson JE, Gulliver W, Hüffmeier U, Kingo K, Kõks S, Liao W, Løset M, Mägi R, Nair RP, Rahman P, Reis A, Smith CH, Di Meglio P, Barker JN, Tsoi LC, Simpson MA, Elder JT, Burden AD, Smith CH, Brown SJ, Dand N, Mahil SK, McAteer H, Schofield J, Siebert S, Metspalu A, Milani L, Nelis M: (2025) GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets. Nat Commun. 2025;16(1):
Erdogan EN, Cheng CV, Caraffi SG, Ivanovski I, Piatelli G, Errichiello E, Papavasiliou AS, Vasileiou G, Reis A, Prince B, Hickey SE, Koboldt DC, Schneider MC, Porrmann J, Di Donato N, Leis T, Perry MS, Humberson J, Rotenberg J, Bakhtiari S, Magee H, Kheradmand S, Kruer MC, Swale A, Weber A, Landes C, Zuffardi O, Garavelli L, van Haeringen A, Ruivenkamp CAL, Pauly M, Au PYB, Dobyns WB, Aldinger KA: (2025) Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype. Am J Med Genet A. 2025;197(9):
Seven D, Ekici A, Uebe S, Bilgiç B, Sencer A, Aydoseli A, Reis A, Buyru N: (2025) Exploring Differentially Expressed Genes and Understanding the Underlying Mechanisms in Glioblastoma. Biochem Genet. 2025;():
Fassad MR, Valenzuela S, Oláhová M, Collier JJ, Knowles CVY, Mavraki E, Elbracht M, Güzel N, Herberhold T, Kurth I, Maier A, Mattern L, Saunders C, McCullagh H, Õunap K, Wortmann SB, Reis A, Zhang L, Gustafsson CM, McFarland R, Taylor RW: (2025) Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease. Clin Genet. 2025;():
Kretz A, Arbeiter M, Strobel J, Blum K, Frischholz B, Rödiger A, Hackstein H, Maihöfner C, Reis A, Vasileiou G, Schwab M: (2025) Novel COL4A1 missense variant in a case of juvenile stroke. J Stroke Cerebrovasc Dis. 2025;34(12):
Falck D, Sokolova MV, Koeleman CAM, Irumva V, Kirchner P, Schulz SR, Schmidt KG, Harrer T, Ekici AB, Spriewald B, Schett G, Wuhrer M, Herrmann M, Steffen U: (2025) IgA displays site- and subclass-specific glycoform differences despite equal glycoenzyme expression. Cell Commun Signal. 2025;23(1):
Skowronek D, Pilz RA, Saenko VV, Mellinger L, Singer D, Ribback S, Weise A, Claaßen K, Büttner C, Brockmann EM, Hübner CA, Aung T, Haerteis S, Bekeschus S, Ekici AB, Felbor U, Rath M: (2025) High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins. Angiogenesis. 2025;28(3):
Gregor A, Distel L, Ekici AB, Kirchner P, Uebe S, Krumbiegel M, Turan S, Winner B, Zweier C: (2025) Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency. HGG Adv. 2025;6(2):
Balk S, Panier F, Brandner S, Coras R, Blümcke I, Ekici AB, Sembill JA, Schwab S, Huttner HB, Sprügel MI: (2025) Intracerebral Hemorrhage-Associated Iron Release Leads to Pericyte-Dependent Cerebral Capillary Function Disruption. Biomolecules. 2025;15(2):
Zwimpfer TA, Fereday S, Pandey A, Ariyaratne D, Jayawardana MW, Twomey L, Laumont CM, Kennedy CJ, Bolithon A, Meagher NS, Milne K, Hamilton P, Alsop J, Antoniou AC, Au-Yeung G, Beckmann MW, Berrington de Gonzalez A, Bisinotto C, Blome F, Bodelon C, Boros J, Brand AH, Carney ME, Cazorla-Jiménez A, Chiu DS, Christie EL, Chudecka-Głaz A, Coulson P, Cushing-Haugen KL, Cybulski C, Darcy KM, David C, Davidson T, Ekici AB, Elishaev E, Emons J, Engler T, Farrell R, Fischer A, García-Closas M, Gentry-Maharaj A, Ghatage P, Glasspool R, Harter P, Hartkopf AD, Hartmann A, Heikaus S, Hernandez BY, Hettiaratchi A, Heublein S, Huntsman DG, Jimenez-Linan M, Jones ME, Kang E, Kaznowska E, Kluz T, Kommoss FKF, Konecny G, Kruitwagen RFPM, Kwon J, Lambrechts D, Lee CH, Lester J, Leung SCY, Leung Y, Linder A, Lissowska J, Loverix L, Lubiński J, Mateoiu C, McNeish IA, Moubarak M, Nelson GS, Nevins N, Olawaiye AB, Olbrecht S, Orsulic S, Osorio A, Quinn CM, Mohan GR, Ray-Coquard I, Rodríguez-Antona C, Roxburgh P, Ruebner M, Salfinger SG, Samra S, Schoemaker MJ, Sinn HP, Sonke GS, Steele L, Stewart CJR, Talhouk A, Tan A, Tarney CM, Taylor SE, Van de Vijver KK, van der Aa MA, Van Gorp T, Van Nieuwenhuysen E, van-Wagensveld L, Wahner-Hendrickson AE, Walter C, Wang C, Welz J, Wentzensen N, Wilkens LR, Winham SJ, Winterhoff B, Anglesio MS, Berchuck A, Candido Dos Reis FJ, Cohen PA, Conrads TP, Crowe P, Doherty JA, Fasching PA, Fortner RT, García MJ, Gayther SA, Goodman MT, Gronwald J, Harris HR, Heitz F, Horlings HM, Karlan BY, Kelemen LE, Maxwell GL, Menon U, Modugno F, Neuhausen SL, Schildkraut JM, Staebler A, Sundfeldt K, Swerdlow AJ, Vergote I, Wu AH, Brenton JD, Pharoah PDP, Pearce CL, Pike MC, Goode EL, Ramus SJ, Köbel M, Nelson BH, DeFazio A, Friedlander ML, Bowtell DDL, Garsed DW: (2025) Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma. medRxiv. 2025;():
Ringer M, Maccataio A, Zapf R, Gaculenko A, Adam S, Aust O, Loskarn S, Luther J, Aksoy B, Popp V, Weidner D, Eck M, Munoz L, Bozec A, Uderhardt S, Bäuerle T, Schett G, Krönke G, Hüffmeier U, Frey S, Steffen U: (2025) Loss of myeloperoxidase aggravates skin and joint inflammation in the mannan-induced psoriatic arthritis mouse model. J Leukoc Biol. 2025;117(9):
Braun D, Gregor A, Haubitz M, Baerlocher GM, Kraus C, Rieubland C, Zweier C: (2025) De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome. Am J Med Genet A. 2025;197(9):
Jury J, Besnard T, Deb W, Toutain A, Gueguen P, Bruel AL, Bouman A, Veenma D, Barakat TS, Do Souto Ferreira L, Zwijnenburg PJG, Schuhmann S, Vasileiou G, Egloff M, Bilan F, Mercier A, Letard P, Leitão E, Schroeder C, Depienne C, Blanc P, Bézieau S, Cogné B, Isidor B: (2025) Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder. J Med Genet. 2025;():
Hua M, Aghanoori MR, MacPherson M, Ren Y, Yang Y, Or YY, Williams L, Gafuik CJ, Quelin C, Keren B, Schuhmann S, Vasileiou G, Bourgois A, Vitobello A, Philippe C, Stark Z, Leventer RJ, Tran-Mau-Them F, Tessarech M, Prouteau C, Lakeman P, Motazacker M, Latner DR, Caylor R, Prijoles E, Lichty A, van Ierland Y, Sweetser D, Steel E, Cobben J, Dasouki MJ, Calame D, Wang G, Rackel B, Ellis J, He G, Mahoney DJ, Innes M, Epp J, Yang G: (2025) Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures. medRxiv. 2025;():
Zachariae S, Quante AS, Kiechle M, Rhiem K, Fehm TN, Schröder JG, Horvath J, Leinert E, Dikow N, Ronez J, Schönfeld M, van Mackelenbergh MT, Schatz UA, Meisel C, Aktas B, Witt D, Mehraein Y, Weber BHF, Solbach C, Speiser D, Hoyer J, Faigle-Krehl G, Much CD, Müller-Rausch AV, Villavicencio-Lorini P, Banys-Paluchowski M, Pieh D, Schmutzler RK, Fischer C, Engel C: (2025) Calculating Future 10-Year Breast Cancer Risks in Risk-Adapted Surveillance: A Method Comparison and Application in Clinical Practice. Cancer Prev Res (Phila). 2025;18(2): 85-92
Batonnet-Pichon S, Delort F, Lilienbaum A, Berwanger C, Schultheis D, Schlötzer-Schrehardt U, Schmidt A, Uebe S, Baiche Y, Eisenack TJ, Trentini DB, Mallek M, Mill L, Ferreiro A, Eberhard B, Lücke T, Krüger M, Thiel C, Schröder R, Clemen CS: (2025) R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy. J Cachexia Sarcopenia Muscle. 2025;16(6):

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