Publications
The following publications received financial support from the University Research Priority Program of the University of Zurich (URPP) ITINERARE – Innovative Therapies in Rare Diseases.
2025
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Kaufman C, D'Andrea A, Hackenberg A, Poms M, Braissant O, Häberle J. Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023. Mol Cell Pediatr. 2025 Jan 22;12(1):1. doi: 10.1186/s40348-024-00188-4. PMID: 39838169; PMCID: PMC11751272. Open access |
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Wehrli S, Dwyer AA, Baumgartner MR, Landolt MA. Exploring network relations between healthcare access and utilisation in individuals with rare diseases. Public Health Pract (Oxf). 2025 Feb 13;9:100593. doi: 10.1016/j.puhip.2025.100593. PMID: 40123971; PMCID: PMC11929058. Open access |
2024
Atila C, Beck J, Refardt J, Erlic Z, Drummond JB, Sailer CO, Liechti ME, Rocha BSS, Beuschlein F, Winzeler B, Christ-Crain M (2024) Psychopathological characteristics in patients with arginine vasopressin deficiency (central diabetes insipidus) and primary polydipsia compared to healthy controls. Eur J Endocrinol; 190(5):354-362. doi: 10.1093/ejendo/lvae040. PMID: 38551325. Open Access |
Biezeman H, Nubiè M, Oburoglu L (2024) Hematopoietic cells emerging from hemogenic endothelium exhibit lineage-specific oxidative stress responses. J Biol Chem. 2024 Nov;300(11):107815. doi: 10.1016/j.jbc.2024.107815. PMID: 39326495; PMCID: PMC11532904. Open Access |
Blomgren LKM, Huber M, Mackinnon SR, Bürer C, Baslé A, Yue WW, Froese DS, McCorvie TJ (2024) Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase. Nat Commun. 15(1):3248. doi: 10.1038/s41467-024-47174-y. PMID: 38622112; PMCID: PMC11018872. Open Access |
Böck D, Wilhelm M, Mumenthaler J, Carpanese DF, Kulcsár PI, d'Aquin S, Cremonesi A, Rassi A, Häberle J, Patriarchi T, Schwank G. (2024) Base editing of Ptbp1 in neurons alleviates symptoms in a mouse model of Parkinson's disease. Elife. 13:RP97180. doi: 10.7554/eLife.97180. PMID: 39714464; PMCID: PMC11666242. Open Access |
Büchler LR, Blomgren LKM, Bürer C, Zanotelli VRT, Froese DS (2024) Evidence for interaction of 5,10-methylenetetrahydrofolate reductase (MTHFR) with methylenetetrahydrofolate dehydrogenase (MTHFD1) and general control nonderepressible 1 (GCN1). Biochimie. 230:138-146. doi: 10.1016/j.biochi.2024.11.010. PMID: 39571719. Open Access |
Daryadel A, Tang C, Xie Y, Peitzsch M, Fisi V, Hantel C, Loffing-Cueni D, Breault DT, Penton D, Loffing J, Beuschlein F (2024) Zona Glomerulosa-Derived Klotho Modulates Aldosterone Synthase Expression in Young Female Mice. Endocrinology; 165(5):bqae040. doi: 10.1210/endocr/bqae040. PMID: 38573585; PMCID: PMC11002783. Open Access |
Gillion V, Devresse A, Olinger E, Dahlqvist G, Demoulin N, Godefroid N, Claes K, Devuyst O, Kanaan N; 2024Monogenic Kidney Diseases in Kidney Transplantation. Kidney Int Rep. 13;9(3):549-568. doi: 10.1016/j.ekir.2023.12.003. PMID: 38481491; PMCID: PMC10927483. |
Häberle J (2024) Citrin deficiency-The East-side story. J Inherit Metab Dis. 47(6):1129-1133. doi: 10.1002/jimd.12772. PMID: 38994653; PMCID: PMC11586598. Open Access |
Häberle J, Siri B, Dionisi-Vici C (2024) Quo vadis ureagenesis disorders? A journey from 90 years ago into the future. J Inherit Metab Dis. 47(6):1120-1128. doi: 10.1002/jimd.12763. Epub 2024 Jun 4. PMID: 38837457; PMCID: PMC11586591. Open Access |
Harvent M, Devuyst Identification of the gut microbial enzyme turning the urine yellow. Kidney Int. 24:S0085-2538(24)00245-X. doi: 10.1016/j.kint.2024.03.018. PMID: 38819343. |
Kido J, Makris G, Santra S, Häberle J (2024) Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition. J Inherit Metab Dis. 47(6):1144-1156. doi: 10.1002/jimd.12722. PMID: 38503330; PMCID: PMC11586594. Open Access |
Knöpfli S, Goeschl B, Zeyda M, Baghdasaryan A, Baumgartner-Kaut M, Baumgartner MR, Herle M, Margreitter J, Poms M, Wortmann SB, Konstantopoulou V, Huemer M (2024) The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. Int J Neonatal Screen. 10(2):40. doi: 10.3390/ijns10020040. PMID: 38920847; PMCID: PMC11203543. |
Kolokotronis K, Suter AA, Ivanovski I, Frey T, Bahr A, Rauch A, Steindl K (2024) DPF2-related Coffin-Siris syndrome type 7 in two generations. Eur J Med Genet. 69:104945. doi: 10.1016/j.ejmg.2024.104945. PMID: 38697389. |
Marquart KF, Mathis N, Mollaysa A, Müller S, Kissling L, Rothgangl T, Schmidheini L, Kulcsár PI, Allam A, Kaufmann MM, Matsushita M, Haenggi T, Cathomen T, Kopf M, Krauthammer M, Schwank G (2024) Effective genome editing with an enhanced ISDra2 TnpB system and deep learning-predicted ωRNAs. Nat Methods. 21(11):2084-2093. doi: 10.1038/s41592-024-02418-z. PMID: 39313558. |
Mallilankaraman KB, Kennedy BK, Sorrentino V, Luciani A. (2024) Editorial: Mitochondria at the nexus of metabolism, aging, and disease. Front Cell Dev Biol. 11:1356278. doi: 10.3389/fcell.2023.1356278. PMID: 38274275; PMCID: PMC10808772. |
Mathis D, Koch J, Koller S, Sauter K, Flück C, Uldry AC, Forny P, Froese DS, Laemmle A (2024) Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency. Mol Genet Metab Rep. 39:101066. doi: 10.1016/j.ymgmr.2024.101066. PMID: 38425868; PMCID: PMC10900122. Open Access |
Mathis N, Allam A, Tálas A, Kissling L, Benvenuto E, Schmidheini L, Schep R, Damodharan T, Balázs Z, Janjuha S, Ioannidi EI, Böck D, van Steensel B, Krauthammer M, Schwank G (2024) Machine learning prediction of prime editing efficiency across diverse chromatin contexts. Nat Biotechnol. doi: 10.1038/s41587-024-02268-2. Erratum in: Nat Biotechnol. 2024 Aug 12. doi: 10.1038/s41587-024-02383-0. PMID: 38907037. |
Matter A, Kaufman C, Zürcher N, Lenggenhager D, Grehten P, Bartholdi D, Horka L, Häberle J, Makris G (2024) LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene. Aging Cell. 23(8):e14189. doi: 10.1111/acel.14189. PMID: 38757373; PMCID: PMC11320348. Open Access |
Martinez M, Harding CO, Schwank G, Thöny B (2024) State-of-the-art 2023 on gene therapy for phenylketonuria. J Inherit Metab Dis. 47(1):80-92. doi: 10.1002/jimd.12651. PMID: 37401651; PMCID: PMC10764640. |
Meier-Abt F, Kraemer D, Braun N, Reinehr M, Stutz-Grunder E, Steindl K, Rauch A (2024) Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor. Am J Med Genet A. doi: 10.1002/ajmg.a.63528. Epub ahead of print. PMID: 38169111. |
Myszkowska J, Klotz K, Leandro P, Kruger WD, Froese DS, Baumgartner MR, Spiekerkoetter U, Hannibal L (2024) Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor. Free Radic Biol Med. 223:281-295. doi: 10.1016/j.freeradbiomed.2024.07.031.PMID: 39067625. Open Access |
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N (2024) SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nat Commun. 15(1):1758. doi: 10.1038/s41467-024-45933-5. PMID: 38413582; PMCID: PMC10899626. |
Raimondi F, Siow KM, Wrona D, Fuster-García C, Pastukhov O, Schmitz M, Bargsten K, Kissling L, Swarts DC, Andrieux G, Cathomen T, Modlich U, Jinek M, Siler U, Reichenbach J (2024) Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements. Commun Biol. 7(1):1291. doi: 10.1038/s42003-024-06959-z. PMID: 39384978; PMCID: PMC11464842. Open Access |
Rossi MN, Matteo V, Diomedi-Camassei F, De Leo E, Devuyst O, Lamkanfi M, Caiello I, Loricchio E, Bellomo F, Taranta A, Emma F, De Benedetti F, Prencipe G (2024) Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis. Front Immunol. 15:1373224. doi: 10.3389/fimmu.2024.1373224. PMID: 38633264; PMCID: PMC11021658. |
Schmidheini L, Mathis N, Marquart KF, Rothgangl T, Kissling L, Böck D, Chanez C, Wang JP, Jinek M, Schwank G (2024) Continuous directed evolution of a compact CjCas9 variant with broad PAM compatibility. Nat Chem Biol. 20(3):333-343. doi: 10.1038/s41589-023-01427-x. PMID: 37735239; PMCID: PMC7616171. |
Siow KM, Güngör M, Wrona D, Raimondi F, Pastukhov O, Tsapogas P, Menzi T, Schmitz M, Kulcsár PI, Schwank G, Schulz A, Jinek M, Modlich U, Siler U, Reichenbach J (2024) Targeted knock-in of NCF1 cDNA into the NCF2 locus leads to myeloid phenotypic correction of p47 phox -deficient chronic granulomatous disease. Mol Ther Nucleic Acids. 35(3):102229. doi: 10.1016/j.omtn.2024.102229. PMID: 38952440; PMCID: PMC11215332. Open Access |
Soomann M, Bily V, Elgizouli M, Kraemer D, Akgül G, von Bernuth H, Bloomfield M, Brodszki N, Candotti F, Förster-Waldl E, Freiberger T, Giżewska M, Klocperk A, Kölsch U, Nichols KE, Krüger R, Oak N, Pac M, Prader S, Schmiegelow K, Šedivá A, Sogkas G, Stittrich A, Stoltze UK, Theodoropoulou K, Wadt K, Wong M, Zeyda M, Pachlopnik Schmid J, Trück J. (2024) Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia. J Allergy Clin Immunol; 154(5):1313-1324.e7. doi: 10.1016/j.jaci.2024.08.002. PMID: 39147326. Open Access |
Soomann M, Prader S, Carlomagno R, Pachlopnik Schmid J, Trück J (2024) Delayed B-cell maturation and attenuated vaccine responses in infants exposed to B-cell depleting therapies in utero. J Allergy Clin Immunol Pract;12(11):3155-3158.e1. doi: 10.1016/j.jaip.2024.08.007. Epub 2024 Aug 8. PMID: 39127106. Open Access |
Soomann M, Prader S, Lorenzini T, Soulard C, Sayasith K, Haddad E, Pachlopnik Schmid J (2024) Severe T-cell lymphopenia in a patient with microduplication 22q11.2 identified by newborn screening. J Allergy Clin Immunol Pract;12(8):2199-2200.e1. doi: 10.1016/j.jaip.2024.04.054. PMID: 38729303. Open Access |
Soomann M, Prader S, Pinto Monteiro A, Zeilhofer U, Hauri-Hohl M, Güngör T, Pachlopnik Schmid J, Trück J, Felber M (2024)Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening. J Clin Immunol; 44(1):39. doi: 10.1007/s10875-023-01640-2. PMID: 38165471; PMCID: PMC10761526. Open Access |
Vuković T, Kuek LE, Yu B, Makris G, Häberle J. (2024) The therapeutic landscape of citrin deficiency. J Inherit Metab Dis. 47(6):1157-1174. doi: 10.1002/jimd.12768. Epub 2024 Jul 17. PMID: 39021261; PMCID: PMC11586593. Open Access |
Weber Y, Böck D, Ivașcu A, Mathis N, Rothgangl T, Ioannidi EI, Blaudt AC, Tidecks L, Vadovics M, Muramatsu H, Reichmuth A, Marquart KF, Kissling L, Pardi N, Jinek M, Schwank G (2024) Enhancing prime editor activity by directed protein evolution in yeast. Nat Commun. 15(1):2092. doi: 10.1038/s41467-024-46107-z. PMID: 38453904; PMCID: PMC10920827. Open Access |
Wehrli S, Dwyer AA, Baumgartner MR, Lehmann C, & Landolt MA (2024) Lower Healthcare Access and Its Association With Individual Factors and Health-Related Quality of Life in Adults With Rare Diseases in Switzerland. Int J Public Health. 69:1607548. doi: 10.3389/ijph.2024.1607548.n PMID: 39386998 Open Access |
Wehrli S, Baumgartner MR, Dwyer AA, & Landolt MA (2024). Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases. J Pediatr Psychol. 49(11):827-839. doi: 10.1093/jpepsy/jsae076. PMID: 39315918 Open Access |
Wehrli S, Dwyer AA, Landolt MA (2024) Psychometric Evaluation of the German Version of the Perceived Access to Healthcare Questionnaire in a Sample of Individuals with Rare Chronic Diseases. Healthcare. 12(6):661. https://doi.org/10.3390/healthcare12060661 Open Access |
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B; EuroEPINOMICS-RES Dravet working group; Gunning B, Hardies K, Jennesson M, Legoff L, Linnankivi T, Prouteau C, Smal N, Spodenkiewicz M, Toelle SP, Van Gassen K, Van Paesschen W, Verbeek N, Ziegler A, Zweier M, Horn AHC, Sticht H, Lerche H, Weckhuysen S, Strauß O, Rauch A (2024)Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect. Am J Hum Genet. 111(6):1184-1205. doi: 10.1016/j.ajhg.2024.04.014. PMID: 38744284; PMCID: PMC11179416. |
2023
| Asadollahi R, Delvendahl I, Muff R, Tan G, Rodríguez DG, Turan S, Russo M, Oneda B, Joset P, Boonsawat P, Masood R, Mocera M, Ivanovski I, Baumer Wolz A, Bachmann-Gagescu R, Schlapbach R, Rehrauer H, Steindl K, Begemann A, Reis A, Winkler J, Winner B, Müller M, Rauch A (2023). Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics, 32(13):2192-2204 |
| Berber M, Leng S, Wengi A, Winter DV, Odermatt A, Beuschlein F, Loffing J, Breault DT, Penton D (2023). Calcineurin regulates aldosterone production via dephosphorylation of NFATc4 JCI Insight |
| Berquez M, Chen Z, Festa BP, Krohn P, Keller SA, Parolo S, Korzinkin M, Gaponova A, Laczko E, Domenici E, Devuyst O, Luciani A (2023). Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization. Nat Commun 14:3994 |
| Boeck D*, Tidecks* L, Wilhelm* M, Weber Y, Ioannidi E, Mumenthaler J, Rothgangl T, Schmidheini L, Janjuha S, Patriarchi T, Schwank G (2023). Prime editing of the beta-1 adrenoceptor in the brain reprograms mouse behavior. BioRxiv *These authors contributed equally |
| Borreguero CF, Wueest S, Hantel C, Schneider, H, Konrad D, Beuschlein F, Spyroglou A (2023). Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice Int J Obes 47, pages215–223. |
| Frey T, Ivanovski I, Bahr A, Zweier M, Laube J, Luchsinger I, Steindl K, Rauch A (2023). A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C >Gp.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome. American Journal of Medical Genetics. Part A, 191(8):2074-2082 |
| Forny P, Bonilla X, Lamparter D, Shao W, Plessl T , Frei C, Bingisser A , Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C , Poms M , Traversi F , Bürer C , Cherkaoui S, Morscher RJ , Simmons L, Forny M , Xenarios I, Aebersold R , Zamboni N, Rätsch G, Dermitzakis ET , Wollscheid B, Baumgartner MR, Froese DS (2023). Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency Nature Metabolism volume 5, pages 80–95 |
García-García A, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martínez À, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, et al (2023). Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. J Exp Med. 220(5):e20220170. |
| Hirch T, Brander N, Schenk F, Pöllmann SJ, Reichenbach J, Schubert R, Modlich U (2023). Expression of a large coding sequence: Gene therapy vectors for Ataxia Telangiectasia. Sci Rep. 13(1):19386. doi: 10.1038/s41598-023-46332-4.PMID: 37938627 |
| Keller S, Luciani A, Devuyst O (2023). The structure of megalin: shedding new light on receptor-mediated endocytosis. Kidney Int. S0085-2538(23)00463-5 |
| Keller S, Zhiyong C, Gaponova A, Korzinkin M, Berquez M, and Luciani A (2023). Drug discovery and therapeutic perspectives for proximal tubulopathies. Kidney International 6: 1103-1112 |
Luciani A and Devuyst O (2023). The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis. Autophagy 24: 1-3 |
| Lucienne M, Gerlini R, Rathkolb B, Calzada-Wack J, Forny P, Wueest S, Kaech A, Traversi F, Forny M, Bürer C, Aguilar-Pimentel A, Irmler M, Beckers J, Sauer S, Kölker S, Dewulf JP, Bommer GT, Hoces D, Gailus-Durner V, Fuchs H, Rozman F, Froese SD, Baumgartner MR, Hrabede Angelis M (2023). Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria. Hum Mol Genet 23(17):2712-2734 |
| Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Pachlopnik Schmid J, et al (2023). Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity. J Allergy Clin Immunol. 152(4):984-996.e10. |
| Mariniello M, Schiano G, Yoshifuji A, Gillion V, Sayer JA, Jouret F; Genkyst Study Group; Le Meur Y, Cornec-Le Gall E, Olinger EG, Devuyst O (2023). Uromodulin processing in DNAJB11-kidney disease. Kidney Int S0085-2538(23)00785-8. doi: 10.1016/j.kint.2023.11.008 |
| Martinez M, Harding CO, Schwank G , Thöny B (2023). Prime editing of the beta-1 adrenoceptor in the brain reprograms mouse behavior. J Inherit Metab Dis. 1-13 |
| McCorvie T, Ferreira D, Yue WW, Froese SD (2023). The complex machinery of human cobalamin metabolism. J Inherit Metab Dis 46(3): 406-420. 10.1002/jimd.12593 |
| Planas R, Felber M, Vavassori S, Pachlopnik J (2023). The hyperinflammatory spectrum: from defects in cytotoxicity to cytokine control. Front Immunol, 14: 1163316 |
| Ramon C, Traversi F, Bürer C, Froese SD, Stelling J (2023). Cellular and computationa models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria. JIMD 46(3): 421-435. 10.1002/jimd.12575 |
| Rothgangl T, Hruzova M, Gnannt R, Aeberhard N, Kissling L, Grisch-Chan HM, Klassa S, Rimann N, Marquart KF, Ioannidi E, Wolf A, Kupatt C, Sidler X, Häberle J, Schwank G, Thöny B (2023). Safe delivery of AAV vectors to the liver of small weaned pigs by ultrasound-guided percutaneous transhepatic portal vein injection. bioRxiv 535660 |
| Schiano G, Lake J, Mariniello M, Schaeffer C, Harvent M, Rampoldi L, Olinger E, Devuyst O (2023). Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney diseaseEMBO Mol Med 15(12):e18242. doi: 10.15252/emmm.202318242 |
| Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson C, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Da Silva RP, Li D, March M, Diaz-Rosado A, de Barcelos IP, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Joset P, Steindl K, Rauch A, et al (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10):eade1463 |
| Wehrli S, Wäscher S (2023).Healthcare access and health equity: Intricate challenges for rare diseases. Swiss Med Wkly 153:3644 |
| Wehrli S, Rohrbach M, Landolt MA (2023). Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta‑analysisOrphanet Journal of Rare Diseases 18:123 |
| Wirthensohn M, Wehrli S, Ljungblad UW, Huemer M. Biochemical, Nutritional, and Clinical Parameters of Vitamin B12 Deficiency in Infants: A Systematic Review and Analysis of 292 Cases Published between 1962 and 2022. Nutrients. 2023 Nov 29;15(23):4960. doi: 10.3390/nu15234960. PMID: 38068819; PMCID: PMC10708449. |
| Wu X, Azizan EAB, Goodchild E, Garg S, Hagiyama M, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Kuan JL, Tiang Z, David A, Murakami M, Mein CA, Wozniak E, Zhao W, Marker A, Buss F, Saleeb RS, Salsbury J, Tezuka Y, Satoh F, Oki K, Udager AM, Cohen DL, Wachtel H, King PJ, Drake WM, Gurnell M, Ceral J, Ryska A, Mustangin M, Wong YP, Tan GC, Solar M, Reincke M, Rainey WE, Foo RS, Takaoka Y, Murray SA, Zennaro MC, Beuschlein F, Ito A, Brown MJ (2023). Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production. Nat Genet 55(6):1009-1021 |
| Zanoni P, Steindl K, Sticht H, Oneda B, Joset P, Ivanovski I, Horn AHC, Cabello EM, Laube J, Zweier M, Baumer A, Rauch A, Khan N (2023). The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. Eur J Hum Genet 31(7):784-792 |
2022
Berquez M, Chen Z, Festa BP, Krohn P, Keller SA, Parolo S, Laczko E, Domenici E, Devuyst O, Luciani A (2022) Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specializationbioRxiv 08.28.505580.
Berquez M, Devuyst O (2022).Tubular cell plasticity—new hope for autosomal dominant polycystic kidney disease? Kidney Int, 102: 6-8. |
| Boeck D*, Rothgangl T*, Villiger L*, Schmidheini L, Matsushita M, Mathis N, Ioannidi N, Rimann N, Grisch-Chan HM, Kreutzer S, Kontarakis Z, Kopf M, Thöny B, Schwank G (2022) In vivo prime editing of a metabolic liver disease in mice Sci Transl Med. 14(636): eabl9238. |
| Bösch F, Zeltner NA, Baumgartner MR , Huemer M, Landolt MA (2022). Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus. Orphanet J Rare Dis, 17:26. |
| Bösch F, Landolt MA, Baumgartner MR, Fernandez S, Forny P, Gautschi M, Grünert SC, Häberle J, Horvath C, Karall D, Lampis D, Rohrbach M, Scholl-Bürgi S, Szinnai G, Huemer M (2022). Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism. Mol Genet Metab Rep, 31:100876. |
| Devuyst O, Bochud M, Olinger E (2022). UMOD and the architecture of kidney disease. Pflügers Archiv, 474:771-781. |
| Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR (2022). Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. Hum Genet, 141: 1253-1267. |
| Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi T, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Xenarios I, Aebersold R, Zamboni N, Raetsch G, Dermitzakis E, Wollscheid B, Baumgartner MR, Froese DS (2022) Integrated multi-omics reveals anaplerotic insufficiency in methylmalonyl-CoA mutase deficiency. medRxiv 2022.01.27.22269972. |
| Joseph CB, Mariniello M, Yoshifuji A, Schiano G, Lake J, Marten J, Richmond A, Huffman JE, Campbell A, Harris SE, Troyanov S, Cocca M, Robino A, Thériault S, Eckardt K-U, Wuttke M, Cheng Y, Corre T, Kolcic I, Black C, Bruat V, Concas MP, Sala C, Aeschbacher S, Schaefer F, Bergmann S, Campbell H, Olden M, Polasek O, Porteous DJ, Deary IJ, Madore F, Awadalla P, Girotto G, Ulivi S, Conen D, Wuehl E, Olinger E, Wilson JF, Bochud M, Köttgen A, Hayward C, Devuyst O (2022). Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin. JASN 33(3): 511-529. |
| Kiessling E, Peters F, Ebner LJA, Merolla L, Samardzija, M, Baumgartner MR, Grimm C, Froese DS (2022). HIF1 and DROSHA are involved in MMACHC repression in hypoxia.Biochim Biophys Acta Gen Subj, 1866(9):130175. |
| Krohn P, Rega LR, Harvent M, Festa BP, Taranta A, Luciani A, Dewulf J, Cremonesi A, Camassei FD, Hanson JVM, Gerth-Kahlert C, Emma F, Berquez M, Devuyst O (2022) Multisystem involvement, defective lysosomes, and impaired autophagy in a novel rat model of Nephropathic Cystinosis. Hum Mol Genet, 31(13): 2262-2278. |
| Olinger E, Wilson I, Devuyst O, Sayer JA (2022). Kidney traits on repeat - the role of MUC1 VNTR. Kidney Int, 101: 863-866. |
| Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O (2022) An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proc Natl Acad Sci USA 16;119(33): e2114734119. |
| Rega LR, De Leo E, Nieri D, Luciani A (2022). Defective Cystinosin, Aberrant Autophagy−Endolysosome Pathways, and Storage Disease: Towards Assembling the Puzzle. Cells, 11(3): 326. |
| Ramon C, Traversi F, Bürer C, Froese DS, Stelling J (2022).Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria. J Inherit Metab Dis. Online ahead of print. |
| Schiano G, Lake J, Mariniello M, Schaeffer C, Harvent M, Luca Rampoldi, Olinger E, Devuyst O (2022) Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney DiseasebioRxiv 2022.09.13.507770. |
Tag B, Hiltbrunner S, Vatter L (2022) “Seltene Krankheiten – eine rechtliche und ethische Einordnung” in Commemorative Publication «Cimes et Châtiments, Mélanges en l’honneur du Prof. Laurent Moreillon»
2021
| Berquez M, Krohn P, Luciani A, Devuyst O (2021). Receptor-Mediated Endocytosis and Differentiation in Proximal Tubule Cell Systems. JASN, 32(5): 1265-1267. |
| Devuyst O (2021). Assessing transport across the peritoneal membrane: Precision medicine in dialysis. Perit Dial Int, 41(4): 349-351. |
| Emma F, Hoff WV, Hohenfellner K, Topaloglu R, Greco M, Ariceta G, Bettini C, Bockenhauer D, Veys K, Pape L, Hulton S, Collin S, Ozaltin F, Servais A, Deschênes G, Novo R, Bertholet-Thomas A, Oh J, Cornelissen E, Janssen M, Haffner D, Ravà L, Antignac C, Devuyst O, Niaudet P, Levtchenko E (2021) An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis Kidney Int, 100(5): 1112-1123. |
| Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revisionJ Inherit Metab Dis, 44(3): 566-592. |
| Gailly P, Devuyst O (2021). PIEZO2, a mechanosensor in the urinary bladder. Kidney Int, 100(1): 9-11. |
| Kiessling E, Nötzli S, Todorova V, Forny M, Baumgartner MR, Samardzija M, Krijt J, Kožich V, Grimm C, Froese DS (2021). Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. Biochim Biophys Acta Mol Basis Dis, 1867(10): 166201. |
Luciani A, Denley MCS, Govers LP, Sorrentino V, Froese DS (2021). Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia. Cell Mol Life Sci, 78: 6851-6867. |
| Morelle J, Marechal C, Yu Z, Debaix H, Corre T, Lambie M, Verduijn M, Dekker F, Bovy P, Evenepoel P, Bammens B, Selgas R, Bajo MA, Coester AM, Sow A, Hautem N, Struijk DG, Krediet RT, Balligand JL, Goffin E, Crott R, Ripoche P, Davies S, Devuyst O (2021). AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis. N Engl J Med, 385: 1570-1580. |
| Ponte B, Sadler MC, Olinger E, Vollenweider P, Bochud M, Padmanabhan S, Hayward C, Kutalik Z, Devuyst O (2021). Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney diseaseKidney Int, 100(6): 1282-1291. |
| Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M (2021). Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. J Am Soc Nephrol, 32(6): 1498-1512. |
| Zimmermann BM, Eichinger J, Baumgartner MR (2021). A systematic review of moral reasons on orphan drug reimbursement. Orphanet J Rare Dis, 16(1): 292. |