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Year Number of Results
2002 1
2003 4
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2006 10
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2009 14
2010 10
2011 13
2012 20
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2014 22
2015 16
2016 21
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299 results

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Page 1
The complement system in age-related macular degeneration.
Armento A, Ueffing M, Clark SJ. Armento A, et al. Among authors: ueffing m. Cell Mol Life Sci. 2021 May;78(10):4487-4505. doi: 10.1007/s00018-021-03796-9. Epub 2021 Mar 9. Cell Mol Life Sci. 2021. PMID: 33751148 Free PMC article. Review.
Characterizing the morbid genome of ciliopathies.
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup; Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Shaheen R, et al. Among authors: ueffing m. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: ueffing m. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H. Dougherty GW, et al. Among authors: ueffing m. Am J Respir Crit Care Med. 2024 Jul 1;210(1):63-76. doi: 10.1164/rccm.202308-1370OC. Am J Respir Crit Care Med. 2024. PMID: 38626355 Free PMC article.
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H; University of Washington Center for Mendelian Genomics; Bamshad MJ; Genomics England Research Consortium; Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D. Latour BL, et al. Among authors: ueffing m. J Clin Invest. 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656. J Clin Invest. 2020. PMID: 32453716 Free PMC article.
Framework and baseline examination of the German National Cohort (NAKO).
Peters A; German National Cohort (NAKO) Consortium; Peters A, Greiser KH, Göttlicher S, Ahrens W, Albrecht M, Bamberg F, Bärnighausen T, Becher H, Berger K, Beule A, Boeing H, Bohn B, Bohnert K, Braun B, Brenner H, Bülow R, Castell S, Damms-Machado A, Dörr M, Ebert N, Ecker M, Emmel C, Fischer B, Franzke CW, Gastell S, Giani G, Günther M, Günther K, Günther KP, Haerting J, Haug U, Heid IM, Heier M, Heinemeyer D, Hendel T, Herbolsheimer F, Hirsch J, Hoffmann W, Holleczek B, Hölling H, Hörlein A, Jöckel KH, Kaaks R, Karch A, Karrasch S, Kartschmit N, Kauczor HU, Keil T, Kemmling Y, Klee B, Klüppelholz B, Kluttig A, Kofink L, Köttgen A, Kraft D, Krause G, Kretz L, Krist L, Kühnisch J, Kuß O, Legath N, Lehnich AT, Leitzmann M, Lieb W, Linseisen J, Loeffler M, Macdonald A, Maier-Hein KH, Mangold N, Meinke-Franze C, Meisinger C, Melzer J, Mergarten B, Michels KB, Mikolajczyk R, Moebus S, Mueller U, Nauck M, Niendorf T, Nikolaou K, Obi N, Ostrzinski S, Panreck L, Pigeot I, Pischon T, Pschibul-Thamm I, Rathmann W, Reineke A, Roloff S, Rujescu D, Rupf S, Sander O, Schikowski T, Schipf S, Schirmacher P, Schlett CL, Schmidt B, Schmidt G, Schmidt M, Schöne G, Schulz H, Schulze MB, Schweig A, … See abstract for full author list ➔ Peters A, et al. Among authors: ueffing m. Eur J Epidemiol. 2022 Oct;37(10):1107-1124. doi: 10.1007/s10654-022-00890-5. Epub 2022 Oct 19. Eur J Epidemiol. 2022. PMID: 36260190 Free PMC article.
Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip.
Corti S, Kim KH, Chen T, Botezatu A, Cora V, Ma K, Pashkovskaia N, Bernal Vergara A, Sperlich D, Dave K, Tolone A, Reddinger RM, Tully CB, Higgins M, Kleger A, Breunig M, Lopatta P, Wingerter S, Cipriano M, Bolz S, Ueffing M, Buss N, Loskill P, Liebau S, Achberger K. Corti S, et al. Among authors: ueffing m. Cell Rep Med. 2025 Aug 19;6(8):102244. doi: 10.1016/j.xcrm.2025.102244. Epub 2025 Jul 23. Cell Rep Med. 2025. PMID: 40706588 Free PMC article.
The AMD-associated genetic polymorphism CFH Y402H confers vulnerability to Hydroquinone-induced stress in iPSC-RPE cells.
Armento A, Sonntag I, Almansa-Garcia AC, Sen M, Bolz S, Arango-Gonzalez B, Kilger E, Sharma R, Bharti K, Fernandez-Godino R, de la Cerda B, Clark SJ, Ueffing M. Armento A, et al. Among authors: ueffing m. Front Immunol. 2025 Feb 6;16:1527018. doi: 10.3389/fimmu.2025.1527018. eCollection 2025. Front Immunol. 2025. PMID: 39981241 Free PMC article.
299 results