Publications
2025
-
Oxygenation and intestinal perfusion and its association with perturbations of the early life gut microbiota composition of children with congenital heart disease
Renk H, Schoppmeier U, Mueller J, Kuger V, Neunhoeffer F, Gille C, Peter S
To Pubmed -
Metabolic mutations reduce antibiotic susceptibility of E. coli by pathway-specific bottlenecks
Lubrano P, Smollich F, Schramm T, Lorenz E, Alvarado A, Eigenmann SC, Stadelmann A, Thavapalan S, Waffenschmidt N, Glatter T, Hoffmann N, Müller J, Peter S, Drescher K , Link H
To Pubmed
2024
-
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
Wissinger B, Baumann B, Buena-Atienza E, Gross C, Kohl S
To Pubmed -
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
Papagiannakis N, Liu H, Koros C, Simitsi AM, Stamelou M, Maniati M, Buena-Atienza E, Kartanou C, Karadima G, Makrythanasis P, Vatsellas G, Valente EM, Gasser T, Stefanis L
To Pubmed -
Systematic assessment of COVID-19 host genetics using whole genome sequencing data.
Schmidt A, Casadei N, Brand F, Demidov G, Vojgani E, Abolhassani A, Aldisi R, Butler-Laporte G, DeCOI host genetics group , Alawathurage TM, Augustin M, Bals R, Bellinghausen C, Berger MM, Bitzer M, Bode C, Boos J, Brenner T, Cornely OA, Eggermann T, Erber J, Feldt T, Fuchsberger C, Gagneur J, Göpel S, Haack T, Häberle H, Hanses F, Heggemann J, Hehr U, Hellmuth JC, Herr C, Hinney A, Hoffmann P, Illig T, Jensen BO, Keitel V, Kim-Hellmuth S, Koehler P, Kurth I, Lanz AL, Latz E, Lehmann C, Luedde T, Maj C, Mian M, Miller A, Muenchhoff M, Pink I, Protzer U, Rohn H, Rybniker J, Scaggiante F, Schaffeldt A, Scherer C, Schieck M, Schmidt SV, Schommers P, Spinner CD, Vehreschild MJGT, Velavan TP, Volland S, Wilfling S, Winter C, Richards JB, DeCOI , Heimbach A, Becker K, Ossowski S, Schultze JL, Nürnberg P, Nöthen MM, Motameny S, Nothnagel M, Riess O, Schulte EC, Ludwig KU
To Pubmed -
Young rat microbiota extracts strongly inhibit fibrillation of α-synuclein and protect neuroblastoma cells and zebrafish against α-synuclein toxicity
Shiraz MG, Nielsen J, Widmann J, Chung KHK, Davis TP, Rasmussen C, Scavenius C, Enghild JJ, Martin-Gallausiaux C, Singh Y, Javed I, Otzen DE.
To Pubmed -
The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics.
Mc Cartney AM, Formenti G, Mouton A, De Panis D, Marins LS, Leitão HG, Diedericks G, Kirangwa J, Morselli M, Salces-Ortiz J, Escudero N, Iannucci A, Natali C, Svardal H, Fernández R, De Pooter T, Joris G, Strazisar M, Wood JMD, Herron KE, Seehausen O, Watts PC, Shaw F, Davey RP, Minotto A, Fernández JM, Böhne A, Alegria C, Alioto T, Alves PC, Amorim IR, Aury JM, Backstrom N, Baldrian P, Baltrunaite L, Barta E, BedHom B, Belser C, Bergsten J, Bertrand L, Bilandija H, Binzer-Panchal M, Bista I, Blaxter M, Borges PAV, Dias GB, Bosse M, Brown T, Bruggmann R, Buena-Atienza E, Burgin J, Buzan E, Cariani A, Casadei N, Chiara M, Chozas S, Čiampor F, Crottini A, Cruaud C, Cruz F, Dalen L, De Biase A, Del Campo J, Delic T, Dennis AB, Derks MFL, Diroma MA, Djan M, Duprat S, Eleftheriadi K, Feulner PGD, Flot JF, Forni G, Fosso B, Fournier P, Fournier-Chambrillon C, Gabaldon T, Garg S, Gissi C, Giupponi L, Gomez-Garrido J, González J, Grilo ML, Grüning B, Guerin T, Guiglielmoni N, Gut M, Haesler MP, Hahn C, Halpern B, Harrison PW, Heintz J, Hindrikson M, Höglund J, Howe K, Hughes GM, Istace B, Cock MJ, Janžekovič F, Jonsson ZO, Joye-Dind S, Koskimäki JJ, Krystufek B, Kubacka J, Kuhl H, Kusza S, Labadie K, Lähteenaro M, Lantz H, Lavrinienko A, Leclère L, Lopes RJ, Madsen O, Magdelenat G, Magoga G, Manousaki T, Mappes T, Marques JP, Redondo GIM, Maumus F, McCarthy SA, Megens HJ, Melo-Ferreira J, Mendes SL, Montagna M, Moreno J, Mosbech MB, Moura M, Musilova Z, Myers E, Nash WJ, Nater A, Nicholson P, Niell M, Nijland R, Noel B, Noren K, Oliveira PH, Olsen RA, Ometto L, Oomen RA, Ossowski S, Palinauskas V, Palsson S, Panibe JP, Pauperio J, Pavlek M, Payen E, Pawlowska J, Pellicer J, Pesole G, Pimenta J, Pippel M, Pirttilä AM, Poulakakis N, Rajan J, M C Rego R, Resendes R, Resl P, Riesgo A, Rodin-Morch P, Soares AER, Fernandes CR, Romeiras MM, Roxo G, Rüber L, Ruiz-Lopez MJ, Saarma U, da Silva LP, Sim-Sim M, Soler L, Sousa VC, Santos CS, Spada A, Stefanovic M, Steger V, Stiller J, Stöck M, Struck TH, Sudasinghe H, Tapanainen R, Tellgren-Roth C, Trindade H, Tukalenko Y, Urso I, Vacherie B, Van Belleghem SM, Van Oers K, Vargas-Chavez C, Velickovic N, Vella N, Vella A, Vernesi C, Vicente S, Villa S, Pettersson OV, Volckaert FAM, Voros J, Wincker P, Winkler S, Ciofi C, Waterhouse RM, Mazzoni CJ
To Pubmed -
Tumour-informed liquid biopsies to monitor advanced melanoma patients under immune checkpoint inhibition.
Schroeder C, Gatidis S, Kelemen O, Schütz L, Bonzheim I, Muyas F, Martus P, Admard J, Armeanu-Ebinger S, Gückel B, Küstner T, Garbe C, Flatz L, Pfannenberg C, Ossowski S, Forschner A
To Pubmed -
Augmenting MEK inhibitor efficacy in BRAF wild-type melanoma: synergistic effects of disulfiram combination therapy.
Meraz-Torres F, Niessner H, Plöger S, Riel S, Schörg B, Casadei N, Kneilling M, Schaller M, Flatz L, Macek B, Eigentler T, Rieß O, Garbe C, Amaral T, Sinnberg T
To Pubmed -
A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease.
Sharma K, Kishore A, Lechado-Terradas A, Passannanti R, Raimondi F, Sturm M, Sreelatha AAK, Puthenveedu DK, Sarma G, Casadei N, Krüger R, Gasser T, Kahle P, Riess O, Fitzgerald JC, Sharma M
To Pubmed -
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.
Kishore A, Sturm M, Soman Pillai K, Hakkaart C, Kalikavil Puthanveedu D, Urulangodi M, Krishnan S, Ashok Kumar Sreelatha A, Rajan R, Pal PK, Yadav R, Sarma G, Casadei N, Gasser T, Bauer P, Riess O, Sharma M
To Pubmed -
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Raposo M, Hübener-Schmid J, Tagett R, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L, Riess O, European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group , Costa MDC, Lima M
To Pubmed -
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM
To Pubmed -
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB
To Pubmed -
Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.
Janßen S, Erbe LS, Kneifel M, Vorgerd M, Döring K, Lubieniecki KP, Lubieniecka JM, Gerding WM, Casadei N, Güttsches AK, Heyer C, Lücke T, Nguyen HHP, Köhler C, Hoffjan S
To Pubmed -
Stress response in Escherichia coli following sublethal phenalene‑1‑one mediated antimicrobial photodynamic therapy: an RNA‑Seq study
Muehler D, Morini S, Geißert J, Engesser C, Hiller KA, Widbille M, Maisch T, Buchalla W, Cieplik F
To Pubmed -
Viral genome sequencing to decipher in‑hospital SARS‑CoV‑2 transmission events
Esser E, Schulte EC, Graf A, Karollus A, Smith NH, Michler T, Dvoretskii S, Angelov A, Sonnabend M, Peter S, Engesser C, Radonic A, Thürmer A, von Kleist M, Gebhardt F, Prazeres da Costa C, Busch DH, Muenchhoff M, Blum H, Keppler OT, Gagneur J, Protzer U
To Pubmed -
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB.
To Pubmed -
Astronaut omics and the impact of space on the human body at scale.
Rutter LA, Cope H, MacKay MJ, Herranz R, Das S, Ponomarev SA, Costes SV, Paul AM, Barker R, Taylor DM, Bezdan D, Szewczyk NJ, Muratani M, Mason CE, Giacomello S.
To Pubmed -
Stratified analyses refine association between TLR7 rare variants and severe COVID-19.
Boos J, van der Made CI, Ramakrishnan G, Coughlan E, Asselta R, Löscher BS, Valenti LVC, de Cid R, Bujanda L, Julià A, Pairo-Castineira E, Baillie JK, May S, Zametica B, Heggemann J, Albillos A, Banales JM, Barretina J, Blay N, Bonfanti P, Buti M, Fernandez J, Marsal S, Prati D, Ronzoni L, Sacchi N; Spanish/Italian Severe COVID-19 Sequencing group; GenOMICC Investigators; Schultze JL, Riess O, Franke A, Rawlik K, Ellinghaus D, Hoischen A, Schmidt A, Ludwig KU.
To Pubmed -
Young rat microbiota extracts strongly inhibit fibrillation of α-synuclein and protect neuroblastoma cells and zebrafish against α-synuclein toxicity
Shiraz MG, Nielsen J, Widmann J, Chung KHK, Davis TP, Rasmussen C, Scavenius C, Enghild JJ, Martin-Gallausiaux C, Singh Y, Javed I, Otzen DE.
To Pubmed