Zobrazeno 1 - 10
of 349
pro vyhledávání: '"Letteboer SJ"'
Autor:
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, SJ, Roosing, S, Adams, M, Bell, SM, Bond, J, Higgins, J, Morrison, EE, Tomlinson, DC, Slaats, GG, van Dam, TJ, 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 ofWashington Center forMendelian 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
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a globa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::98293f0999c69ed9d20eac332c60a6ef
Autor:
Dougherty GW; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Mizuno K; RIKEN Center for Biosystems Dynamics Research, Kobe, Japan., Nöthe-Menchen T; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Ikawa Y; RIKEN Center for Biosystems Dynamics Research, Kobe, Japan.; Developmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan., Boldt K; Institute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen, Tübingen, Germany., Ta-Shma A; Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Aprea I; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Minegishi K; RIKEN Center for Biosystems Dynamics Research, Kobe, Japan.; Developmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan., Pang YP; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA., Pennekamp P; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Loges NT; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Raidt J; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Hjeij R; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Wallmeier J; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Mussaffi H; Schneider Children's Medical Center, Prtach-Tiqva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Ramat, Aviv, Israel., Perles Z; Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Elpeleg O; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Rabert F; Max Planck Research Group on Stem Cells & Regeneration, Max Planck Institute for Molecular Biomedicine, Münster, Germany., Shiratori H; Developmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan., Letteboer SJ; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Horn N; Institute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen, Tübingen, Germany., Young S; Centre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster, Münster, Germany., Strünker T; Centre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster, Münster, Germany., Stumme F; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Werner C; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Olbrich H; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Takaoka K; RIKEN Center for Biosystems Dynamics Research, Kobe, Japan.; Developmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan., Ide T; RIKEN Center for Biosystems Dynamics Research, Kobe, Japan., Twan WK; RIKEN Center for Biosystems Dynamics Research, Kobe, Japan., Biebach L; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Große-Onnebrink J; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Klinkenbusch JA; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Praveen K; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA., Bracht DC; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Höben IM; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Junger K; Institute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen, Tübingen, Germany., Gützlaff J; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Cindrić S; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Aviram M; Soroka Medical Center, Beer-Sheva, Israel., Kaiser T; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Memari Y; Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.; MRC Cancer Unit, Hutchison / MRC Research Centre, Cambridge, UK., Dzeja PP; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA., Dworniczak B; Department of Human Genetics, University of Münster, Münster, Germany., Ueffing M; Institute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen, Tübingen, Germany., Roepman R; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Bartscherer K; Max Planck Research Group on Stem Cells & Regeneration, Max Planck Institute for Molecular Biomedicine, Münster, Germany.; Medical Faculty, University of Münster, Münster, Germany.; Hubrecht Institute, Utrecht, the Netherlands., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Amirav I; Pulmonology Unit, Dana-Dwek Children's Hospital, Tel-Aviv University, Tel-Aviv, Israel.; Department of Pediatrics, University of Alberta, Edmonton, Canada., Hamada H; RIKEN Center for Biosystems Dynamics Research, Kobe, Japan.; Developmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan., Omran H; Department of General Pediatrics, University Hospital Münster, Münster, Germany. Heymut.Omran@ukmuenster.de.
Publikováno v:
Nature communications [Nat Commun] 2020 Nov 02; Vol. 11 (1), pp. 5520. Date of Electronic Publication: 2020 Nov 02.
Autor:
Latour BL; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Van De Weghe JC; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Rusterholz TD; Institute of Medical Genetics, and.; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland., Letteboer SJ; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Gomez A; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Gesemann M; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland., Karamzade A; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Asadollahi M; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Barroso-Gil M; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, United Kingdom., Chitre M; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Grout ME; Department of Pediatrics, University of Washington, Seattle, Washington, USA., van Reeuwijk J; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., van Beersum SE; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Miller CV; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Dempsey JC; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Morsy H; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; The University of Washington Center for Mendelian Genomics is detailed in Supplemental Acknowledgments.; University of Washington Center for Mendelian Genomics, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Nickerson DA; The University of Washington Center for Mendelian Genomics is detailed in Supplemental Acknowledgments.; University of Washington Center for Mendelian Genomics, Seattle, Washington, USA., Neuhauss SC; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland., Boldt K; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Ueffing M; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Keramatipour M; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, United Kingdom., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Bachmann-Gagescu R; Institute of Medical Genetics, and.; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland., Roepman R; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2020 Aug 03; Vol. 130 (8), pp. 4423-4439.
Autor:
Wolf, Matthias T. F.1,2 matthias.wolf@utsouthwestern.edu, Bonsib, Stephen M.3, Larsen, Christopher P.3, Hildebrandt, Friedhelm4
Publikováno v:
Pediatric Nephrology. Jul2024, Vol. 39 Issue 7, p1977-2000. 24p.
Autor:
Oud MM; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; 2Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB, Nijmegen, The Netherlands., Latour BL; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; 2Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB, Nijmegen, The Netherlands., Bakey Z; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; 2Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB, Nijmegen, The Netherlands., Letteboer SJ; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; 2Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB, Nijmegen, The Netherlands., Lugtenberg D; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands., Wu KM; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; 2Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB, Nijmegen, The Netherlands., Cornelissen EAM; 3Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; 4Donders Centre for Neuroscience, Radboud University Medical Center, PO-Box 9101, 6500 HB Nijmegen, The Netherlands., Schmidts M; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; 2Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Medical Faculty, Freiburg, Germany., Roepman R; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; 2Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB, Nijmegen, The Netherlands., Bongers EMHF; 1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
Publikováno v:
Cilia [Cilia] 2018 Feb 23; Vol. 7, pp. 1. Date of Electronic Publication: 2018 Feb 23 (Print Publication: 2018).
Autor:
van Lith SA; Department of Pathology, RadboudUMC, 6500 HB, Nijmegen, The Netherlands., Roodink I; Department of Pathology, RadboudUMC, 6500 HB, Nijmegen, The Netherlands.; Modiquest BV, LSP, Molenstraat 110, 5342 CC, Oss, The Netherlands., Verhoeff JJ; Department of Radiotherapy, AMC, 1100 DD, Amsterdam, The Netherlands., Mäkinen PI; Department of Biotechnology and Molecular Medicine, University of Eastern Finland, FI-70211, Kuopio, Finland., Lappalainen JP; Department of Biotechnology and Molecular Medicine, University of Eastern Finland, FI-70211, Kuopio, Finland., Ylä-Herttuala S; Department of Biotechnology and Molecular Medicine, University of Eastern Finland, FI-70211, Kuopio, Finland.; Science Service Center and Gene Therapy Unit, Kuopio University Hospital, 70210 Kuopio, Finland., Raats J; Modiquest BV, LSP, Molenstraat 110, 5342 CC, Oss, The Netherlands., van Wijk E; Department of Otorhinolaryngology, RadboudUMC, 6500 HB, Nijmegen, The Netherlands., Roepman R; Department of Genetics, RadboudUMC, 6500 HB, Nijmegen,The Netherlands., Letteboer SJ; Department of Genetics, RadboudUMC, 6500 HB, Nijmegen,The Netherlands., Verrijp K; Department of Pathology, RadboudUMC, 6500 HB, Nijmegen, The Netherlands., Leenders WP; Department of Pathology, RadboudUMC, 6500 HB, Nijmegen, The Netherlands.
Publikováno v:
Oncotarget [Oncotarget] 2016 Nov 01; Vol. 7 (44), pp. 71594-71607.
Autor:
Boldt K; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany., van Reeuwijk J; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Lu Q; Biochemie Zentrum Heidelberg (BZH), University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.; Cell Networks, Bioquant, Ruprecht-Karl University of Heidelberg, Im Neuenheimer Feld 267, 69120 Heidelberg, Germany., Koutroumpas K; Institute of Systems and Synthetic Biology, Genopole, CNRS, Université d'Evry, 91030 Evry, France., Nguyen TM; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Texier Y; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany.; Department of Molecular Epigenetics, Helmholtz Center Munich, Center for Integrated Protein Science, 81377 Munich, Germany., van Beersum SE; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Horn N; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany., Willer JR; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA., Mans DA; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Dougherty G; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany., Lamers IJ; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Coene KL; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Arts HH; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Betts MJ; Biochemie Zentrum Heidelberg (BZH), University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.; Cell Networks, Bioquant, Ruprecht-Karl University of Heidelberg, Im Neuenheimer Feld 267, 69120 Heidelberg, Germany., Beyer T; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany., Bolat E; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Gloeckner CJ; German Center for Neurodegenerative Diseases (DZNE) within the Helmholz Association, Otfried-Müller Strasse 23, 72076 Tuebingen, Germany., Haidari K; Department of Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, 3584 CT Utrecht, The Netherlands., Hetterschijt L; Department of Otorhinolaryngology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Iaconis D; Telethon Institute of Genetics and Medicine, TIGEM 80078, Italy., Jenkins D; Molecular Medicine Unit and Birth Defects Research Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., Klose F; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany., Knapp B; Cell and Matrix Biology, Inst. of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany., Latour B; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Letteboer SJ; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Marcelis CL; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Mitic D; Cambridge Cell Networks Ltd, St John's Innovation Centre, Cowley Road, Cambridge, CB4 0WS, UK., Morleo M; Telethon Institute of Genetics and Medicine, TIGEM 80078, Italy.; Department of Translational Medicine Federico II University, 80131 Naples, Italy., Oud MM; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Riemersma M; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Rix S; Molecular Medicine Unit and Birth Defects Research Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., Terhal PA; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Toedt G; Structural and Computational Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany., van Dam TJ; Centre for Molecular and Biomolecular Informatics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 26-28, 6525 GA Nijmegen, The Netherlands., de Vrieze E; Department of Otorhinolaryngology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Wissinger Y; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany., Wu KM; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Apic G; Cambridge Cell Networks Ltd, St John's Innovation Centre, Cowley Road, Cambridge, CB4 0WS, UK., Beales PL; Molecular Medicine Unit and Birth Defects Research Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., Blacque OE; School of Biomolecular &Biomed Science, Conway Institute, University College Dublin, Dublin 4, Ireland., Gibson TJ; Structural and Computational Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany., Huynen MA; Centre for Molecular and Biomolecular Informatics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 26-28, 6525 GA Nijmegen, The Netherlands., Katsanis N; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA., Kremer H; Department of Otorhinolaryngology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Omran H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany., van Wijk E; Department of Otorhinolaryngology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands., Wolfrum U; Cell and Matrix Biology, Inst. of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany., Kepes F; Institute of Systems and Synthetic Biology, Genopole, CNRS, Université d'Evry, 91030 Evry, France., Davis EE; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA., Franco B; Telethon Institute of Genetics and Medicine, TIGEM 80078, Italy.; Department of Translational Medicine Federico II University, 80131 Naples, Italy., Giles RH; Department of Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, 3584 CT Utrecht, The Netherlands., Ueffing M; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany., Russell RB; Biochemie Zentrum Heidelberg (BZH), University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.; Cell Networks, Bioquant, Ruprecht-Karl University of Heidelberg, Im Neuenheimer Feld 267, 69120 Heidelberg, Germany., Roepman R; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Publikováno v:
Nature communications [Nat Commun] 2016 May 13; Vol. 7, pp. 11491. Date of Electronic Publication: 2016 May 13.
Autor:
Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB
Publikováno v:
Nature communications [Nat Commun] 2016 Mar 29; Vol. 7, pp. 11270. Date of Electronic Publication: 2016 Mar 29.
Autor:
Ba W; Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, 6525 AJ Nijmegen, the Netherlands., Selten MM; Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, 6525 AJ Nijmegen, the Netherlands., van der Raadt J; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, 6525 GA Nijmegen, the Netherlands., van Veen H; Donders Institute for Brain, Cognition, and Behaviour, 6525 AJ Nijmegen, the Netherlands; Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Faculty of Science, Utrecht University, P.O. Box 80082, 30508 TB Utrecht, the Netherlands., Li LL; Molecular Signalling Laboratory, Department of Neurobiology, A.I. Virtanen Institute, University of Eastern Finland, Kuopio 70210, Finland., Benevento M; Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, 6525 AJ Nijmegen, the Netherlands., Oudakker AR; Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, 6525 AJ Nijmegen, the Netherlands., Lasabuda RSE; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands., Letteboer SJ; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, 6525 GA Nijmegen, the Netherlands., Roepman R; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, 6525 GA Nijmegen, the Netherlands., van Wezel RJA; Donders Institute for Brain, Cognition, and Behaviour, 6525 AJ Nijmegen, the Netherlands; Biomedical Signal and Systems, MIRA Institute for Biomedical Technology and Technical Medicine, University of Twente, 7500 AE Enschede, the Netherlands., Courtney MJ; Molecular Signalling Laboratory, Department of Neurobiology, A.I. Virtanen Institute, University of Eastern Finland, Kuopio 70210, Finland; Turku Centre for Biotechnology, Abo Akademi University and University of Turku, Turku 20521, Finland., van Bokhoven H; Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, 6525 AJ Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, 6525 GA Nijmegen, the Netherlands., Nadif Kasri N; Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, 6525 AJ Nijmegen, the Netherlands. Electronic address: n.nadif@donders.ru.nl.
Publikováno v:
Cell reports [Cell Rep] 2016 Feb 16; Vol. 14 (6), pp. 1355-1368. Date of Electronic Publication: 2016 Feb 04.
Autor:
Saksens NT; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Krebs MP; The Jackson Laboratory, Bar Harbor, Maine, USA., Schoenmaker-Koller FE; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Hicks W; The Jackson Laboratory, Bar Harbor, Maine, USA., Yu M; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA., Shi L; The Jackson Laboratory, Bar Harbor, Maine, USA., Rowe L; The Jackson Laboratory, Bar Harbor, Maine, USA., Collin GB; The Jackson Laboratory, Bar Harbor, Maine, USA., Charette JR; The Jackson Laboratory, Bar Harbor, Maine, USA., Letteboer SJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Moorsel TW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Abu-Ltaif S; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Walraedt S; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Banfi S; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Boon CJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands., Roepman R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Leroy BP; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Division of Ophthalmology, The Children's Hospital of Ophthalmology, Philadelphia, Pennsylvania, USA.; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Ophthalmology, Philadelphia, Pennsylvania, USA., Peachey NS; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA.; Research Service, Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Nishina PM; The Jackson Laboratory, Bar Harbor, Maine, USA., den Hollander AI; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Publikováno v:
Nature genetics [Nat Genet] 2016 Feb; Vol. 48 (2), pp. 144-51. Date of Electronic Publication: 2015 Dec 21.