부산대학교 도서관

Hoff, Sylvia; Halbritter, Jan; Epting, Daniel; Frank, Valeska; Nguyen, Thanh-Minh T; van Reeuwijk, Jeroen; Boehlke, Christopher; Schell, Christoph; Yasunaga, Takayuki; Helmstädter, Martin; Mergen, Miriam; Filhol, Emilie; Boldt, Karsten; Horn, Nicola; Ueffing, Marius; Otto, Edgar A; Eisenberger, Tobias; Elting, Mariet W; van Wijk, Joanna A E; Bockenhauer, Detlef

Nature Genetics. Aug2013, Vol. 45 Issue 8, p951-956. 6p. 2 Color Photographs, 2 Diagrams, 1 Chart.

Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke

Journal of Medical Genetics. Sep 01, 2017 54(9):624-632

Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Nguyen TT; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Koşukcu C; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Türkiye.; Calzada-Wack J; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Li Y; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Assia Batzir N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Saygılı S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Wimmers V; Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Kim GJ; Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany.; Chrysanthou M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Bakey Z; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Sofrin-Drucker E; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Kraiger M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Sanz-Moreno A; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Amarie OV; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Rathkolb B; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Klein-Rodewald T; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Garrett L; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hölter SM; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany.; Seisenberger C; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Haug S; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Schlosser P; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA.; Marschall S; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Adolf-Butenandt-Institut, Ludwig-Maximilians-University Munich, Munich, Germany.; Fuchs H; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Gailus-Durner V; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Wuttke M; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Hrabe de Angelis M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany.; Ćomić J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Akgün Doğan Ö; Department of Pediatrics, Division of Pediatric Genetics, Acibadem Mehmet Ali Aydinlar University, School of Medicine, Istanbul, Türkiye.; Özlük Y; Department of Pathology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye.; Taşdemir M; Department of Pediatric Nephrology, Istinye University Faculty of Medicine, Istanbul, Türkiye.; Ağbaş A; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Canpolat N; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Çalışkan S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Weber RG; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Department of Medicine IV, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Jeanpierre C; Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris Cité, INSERM UMR 1163, Paris, France.; Saunier S; Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris Cité, INSERM UMR 1163, Paris, France.; Lim TY; Department of Medicine, Division of Nephrology, Columbia University, New York, New York, USA.; Hildebrandt F; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Basel-Salmon L; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel; Felsenstein Medical Research Center, Petah Tikva, Israel.; Borovitz Y; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Wu K; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Antony D; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Matschkal J; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Schaaf CW; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Renders L; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Schmaderer C; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Rogg M; Institute of Surgical Pathology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Schell C; Institute of Surgical Pathology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Heemann U; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Köttgen A; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany.; Arnold SJ; Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany.; Ozaltin F; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Türkiye; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Türkiye; Nephrogenetics Laboratory, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Türkiye; Center for Genomics and Rare Diseases, Hacettepe University, Sihhiye, Ankara, Türkiye. Electronic address: fozaltin@hacettepe.edu.tr.; Schmidts M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany. Electronic address: miriam.schmidts@uniklinik-freiburg.de.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany. Electronic address: julia.hoefele@tum.de.

Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

van Dam TJP; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Theoretical Biology and Bioinformatics, Science faculty, Utrecht University, Utrecht, the Netherlands.; Kennedy J; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.; van der Lee R; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Vrieze E; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Wunderlich KA; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany.; Rix S; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Dougherty GW; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.; Lambacher NJ; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.; Li C; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.; Jensen VL; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.; Leroux MR; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.; Hjeij R; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.; Horn N; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.; Texier Y; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.; Wissinger Y; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.; van Reeuwijk J; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Wheway G; Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.; Knapp B; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany.; Scheel JF; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany.; Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics, Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Mans DA; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; van Wijk E; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Képès F; Institute of Systems and Synthetic Biology (iSSB), Genopole, CNRS, Univ. Evry, France.; Slaats GG; Dept. Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands.; Toedt G; Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.; Kremer H; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Omran H; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.; Szymanska K; Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.; Koutroumpas K; Institute of Systems and Synthetic Biology (iSSB), Genopole, CNRS, Univ. Evry, France.; Ueffing M; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.; Nguyen TT; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Letteboer SJF; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Oud MM; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; van Beersum SEC; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Schmidts M; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.; Beales PL; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Lu Q; Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.; Bioquant/Cell Networks, Heidelberg, Germany.; Giles RH; Dept. Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands.; Szklarczyk R; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Russell RB; Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.; Bioquant/Cell Networks, Heidelberg, Germany.; Gibson TJ; Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.; Johnson CA; Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.; Blacque OE; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.; Wolfrum U; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany.; Boldt K; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.; Roepman R; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Hernandez-Hernandez V; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Eblimit, Aiden; Nguyen, Thanh-Minh T; Chen, Yiyun; Esteve-Rudd, Julian; Zhong, Hua; Letteboer, Stef; Van Reeuwijk, Jeroen; Simons, David L; Ding, Qian; Wu, Ka Man; Li, Yumei; Van Beersum, Sylvia; Moayedi, Yalda; Xu, Huidan; Pickard, Patrick; Wang, Keqing; Gan, Lin; Wu, Samuel M; Williams, David S; Mardon, Graeme; Roepman, Ronald; Chen, Rui

Human Molecular Genetics, 24, 6, pp. 1584-601
Human Molecular Genetics, vol 24, iss 6
Human Molecular Genetics

Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Nguyen TT; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Koşukcu C; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, 06100, Türkiye.; Calzada-Wack J; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Li Y; Institute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany.; Saygılı S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Wimmers V; Institute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, 79106, Germany.; Kim GJ; Institute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany.; Chrysanthou M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Bakey Z; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, 79106, Germany.; Kraiger M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Sanz-Moreno A; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Amarie OV; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Rathkolb B; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, 81377, Germany.; German Center for Diabetes Research (DZD), Neuherberg, 85764, Germany.; Klein-Rodewald T; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Garrett L; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Hölter SM; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, 85354, Germany.; Seisenberger C; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, 81377, Germany.; Haug S; Institute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany.; Marschall S; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, 85354, Germany.; Deutsches Institut fur Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, 81377, Germany.; Munich Cluster for Systems Neurology (SyNergy), Adolf-Butenandt-Institut, Ludwig-Maximilians-University Munich, Munich, 81377, Germany.; Fuchs H; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Gailus-Durner V; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Wuttke M; Institute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany.; de Angelis MH; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; German Center for Diabetes Research (DZD), Neuherberg, 85764, Germany.; Chair of Experimental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, 85354, Germany.; Ćomić J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Doğan ÖA; Department of Pediatric Genetics, Acibadem Mehmet Ali Aydinlar University, Faculty of Medicine, Istanbul, Türkiye.; Özlük Y; Department of Pathology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye.; Taşdemir M; Department of Pediatric Nephrology, Istinye University School of Medicine, Liv Hospital, Istanbul, Türkiye.; Ağbaş A; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Canpolat N; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Ćalışkan S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.; Weber R; Department of Human Genetics, Hannover Medical School, Hannover, 30625, Germany.; Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.; Jeanpierre C; Inserm U1163, Laboratoire des Maladies Renales Hereditaires Institut Imagine, Université de Paris, Paris, France.; Saunier S; Inserm U1163, Laboratoire des Maladies Renales Hereditaires Institut Imagine, Université de Paris, Paris, France.; Lim TY; Department of Medicine, Division of Nephrology, Columbia University, New York, New York, USA.; Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Wu K; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Antony D; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Institute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany.; Matschkal J; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Schaaf C; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Renders L; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Schmaderer C; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Heemann U; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Köttgen A; Institute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany.; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, 79106 Freiburg, Germany.; Arnold S; Institute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany.; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, 79106 Freiburg, Germany.; Ozaltin F; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, 06100, Türkiye.; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, 06100, Sihhiye, Ankara, Türkiye.; Schmidts M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, 79106, Germany.; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, 79106 Freiburg, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Boldt, Karsten; van Reeuwijk, Jeroen; Dougherty, Gerard; Lamers, Ideke J C; Coene, Karlien L M; Arts, Heleen H; Betts, Matthew J; Beyer, Tina; Bolat, Emine; Gloeckner, Christian Johannes; Haidari, Khatera; Hetterschijt, Lisette; Lu, Qianhao; Iaconis, Daniela; Jenkins, Dagan; Klose, Franziska; Knapp, Barbara; Latour, Brooke; Letteboer, Stef J F; Marcelis, Carlo L; Mitic, Dragana; Morleo, Manuela; Oud, Machteld M; Koutroumpas, Konstantinos; Riemersma, Moniek; Rix, Susan; Terhal, Paulien A; Toedt, Grischa; van Dam, Teunis J P; de Vrieze, Erik; Wissinger, Yasmin; Wu, Ka Man; Apic, Gordana; Beales, Philip L; Nguyen, Thanh-Minh T; Blacque, Oliver E; Gibson, Toby J; Huynen, Martijn A; Katsanis, Nicholas; Kremer, Hannie; Omran, Heymut; van Wijk, Erwin; Wolfrum, Uwe; Kepes, François; Davis, Erica E; Texier, Yves; Franco, Brunella; Giles, Rachel H; Ueffing, Marius; Russell, Robert B; Roepman, Ronald; Group, UK10K Rare Diseases; Al-Turki, Saeed; Anderson, Carl; Antony, Dinu; Barroso, Inês; van Beersum, Sylvia E C; Bentham, Jamie; Bhattacharya, Shoumo; Carss, Keren; Chatterjee, Krishna; Cirak, Sebahattin; Cosgrove, Catherine; Danecek, Petr; Durbin, Richard; Fitzpatrick, David; Floyd, Jamie; Horn, Nicola; Reghan Foley, A.; Franklin, Chris; Futema, Marta; Humphries, Steve E; Hurles, Matt; Joyce, Chris; McCarthy, Shane; Mitchison, Hannah M; Muddyman, Dawn; Muntoni, Francesco; Willer, Jason R; O'Rahilly, Stephen; Onoufriadis, Alexandros; Payne, Felicity; Plagnol, Vincent; Raymond, Lucy; Savage, David B; Scambler, Peter; Schmidts, Miriam; Schoenmakers, Nadia; Semple, Robert; Mans, Dorus A; Serra, Eva; Stalker, Jim; van Kogelenberg, Margriet; Vijayarangakannan, Parthiban; Walter, Klaudia; Whittall, Ros; Williamson, Kathy

Nature Communications
Nat Commun
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Nature Communications 7(1), 11491 (2016). doi:10.1038/ncomms11491
Nature Communications, 7, pp. 11491-11491
Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T M T, Texier, Y, Van Beersum, S E C, Horn, N, Willer, J R, Mans, D A, Dougherty, G, Lamers, I J C, Coene, K L M, Arts, H H, Betts, M J, Beyer, T, Bolat, E, Gloeckner, C J, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, S J F, Marcelis, C L, Mitic, D, Morleo, M, Oud, M M, Riemersma, M, Rix, S, Terhal, P A, Toedt, G, Van Dam, T J P, De Vrieze, E, Wissinger, Y, Wu, K M, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A R, Franklin, C, Futema, M, Humphries, S E, Hurles, M, Joyce, C, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, Van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K, Apic, G, Beales, P L, Blacque, O E, Gibson, T J, Huynen, M A, Katsanis, N, Kremer, H, Omran, H, Van Wijk, E, Wolfrum, U, Kepes, F, Davis, E E, Franco, B, Giles, R H, Ueffing, M, Russell, R B & Roepman, R 2016, ' An organelle-specific protein landscape identifies novel diseases and molecular mechanisms ', Nature Communications, vol. 7, 11491 . https://doi.org/10.1038/ncomms11491
Nat. Commun. 7:11491 (2016)

Wheway G; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.; Schmidts M; Genetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London, WC1N 1EH, UK.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Pediatric Genetics Section, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg 79112, Germany.; Mans DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Szymanska K; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.; Nguyen TT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Racher H; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.; Phelps IG; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Toedt G; Structural and Computational Biology, European Molecular Biology Laboratory, 69117 Heidelberg, Germany.; Kennedy J; School of Biomolecular and Biomedical Science, University College Dublin, Dublin 4, Ireland.; Wunderlich KA; Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany.; Sorusch N; Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany.; Abdelhamed ZA; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.; Natarajan S; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.; Herridge W; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.; van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Horn N; Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany.; Boldt K; Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany.; Parry DA; Section of Genetics, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.; Letteboer SJF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Roosing S; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Ave, Box 268, New York, NY 10065, USA.; Adams M; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.; Bell SM; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.; Bond J; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.; Higgins J; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.; Morrison EE; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.; Tomlinson DC; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.; Slaats GG; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, 3584 CX, The Netherlands.; van Dam TJP; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Huang L; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada.; Kessler K; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Giessl A; Animal Physiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Logan CV; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.; Boyle EA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Aldahmesh M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Al Hazzaa S; Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Department of Ophthalmology, College of Medicine, Alfaisal University, Riyadh, 11533, Saudi Arabia.; Hegele RA; Robarts Research Institute, University of Western Ontario, London, N6G 2V4, ON, Canada.; Ober C; Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.; Frosk P; Department of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada.; Mhanni AA; Department of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada.; Chodirker BN; Department of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada.; Chudley AE; Department of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada.; Lamont R; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.; Bernier FP; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.; Beaulieu CL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada.; Gordon P; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.; Pon RT; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.; Donahue C; Department of Pediatrics, University of California San Francisco, San Francisco, CA 92093, USA.; Barkovich AJ; Department of Radiology, University of California San Francisco, San Francisco, CA 92093, USA.; Wolf L; Department of Pathology, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Toomes C; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.; Thiel CT; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada.; McKibbin M; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St. James's University Hospital, Leeds, LS9 7TF, UK.; Inglehearn CF; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.; Stewart F; Department of Medical Genetics, Belfast City Hospital and Queens University, Belfast, BT12 6BA, UK.; Omran H; Department of Pediatrics and Adolescent Medicine, University Hospital Muenster, 48149 Muenster, Germany.; Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Sergouniotis PI; Moorfields Eye Hospital NHS Foundation Trust and NIHR Ophthalmology Biomedical Research Centre, London, EC1V 2PD, UK.; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.; Parboosingh JS; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.; Willoughby CE; Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, Faculty of Health & Life Sciences, University of Liverpool, Liverpool, L69 3BX, UK.; Giles RH; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, 3584 CX, The Netherlands.; Webster AR; Moorfields Eye Hospital NHS Foundation Trust and NIHR Ophthalmology Biomedical Research Centre, London, EC1V 2PD, UK.; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.; Ueffing M; Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany.; Research Unit of Protein Science, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, 85764 Neuherberg, Germany.; Blacque O; School of Biomolecular and Biomedical Science, University College Dublin, Dublin 4, Ireland.; Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Ave, Box 268, New York, NY 10065, USA.; Wolfrum U; Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany.; Beales PL; Genetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London, WC1N 1EH, UK.; Gibson T; Structural and Computational Biology, European Molecular Biology Laboratory, 69117 Heidelberg, Germany.; Doherty D; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Divisions of Developmental Medicine and Genetic Medicine, Seattle Children's Research Institute, University of Washington, Seattle, WA 98105, USA.; Mitchison HM; Genetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London, WC1N 1EH, UK.; Roepman R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Johnson CA; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

Publisher: Macmillan Magazines Ltd Country of Publication: England NLM ID: 100890575 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4679 (Electronic) Linking ISSN: 14657392 NLM ISO Abbreviation: Nat Cell Biol Subsets: MEDLINE

Dharmat R; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Eblimit A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Robichaux MA; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX.; Zhang Z; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX.; Nguyen TT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Jung SY; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX.; He F; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX.; Jain A; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX.; Li Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Qin J; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX.; Overbeek P; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Roepman R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Mardon G; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Pathology and Immunology, Baylor College of Medicine, Houston, TX.; Wensel TG; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX.; Chen R; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX ruichen@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX.

Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE