부산대학교 도서관

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E.; Iglesias-Romero, Ana Belén; Boonen, Erica G. M.; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K.; Tsang, Stephen H.; Corradi, Zelia; Freund, K. Bailey; Shliaga, Stefanida; Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Ali, Manir; AlTalbishi, Ala’a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D. N.; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T. S.; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G.; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J. F.; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M.; Burin des Roziers, Cyril; Cadena, Elizabeth L.; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P.; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N.; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L.; Farrar, G. Jane; Feltgen, Nicolas; Fenner, Beau J.; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M.; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C.; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B.; Haer-Wigman, Lonneke; Hardcastle, Alison J.; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H.; Hoischen, Alexander; Holtan, Josephine P.; Hoyng, Carel B.; Ibanez, IV, Manuel Benjamin B.; Inglehearn, Chris F.; Iwata, Takeshi; Jensson, Brynjar O.; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Knézy, Krisztina; Koenekoop, Robert K.; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M.; Leibu, Rina; Leroy, Bart P.; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R. de J.; Mahieu, Quinten; Mahroo, Omar A.; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M. Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L.; Meunier, Isabelle; Michaelides, Michel; Millán, José M.; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A.; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I.; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H.; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M.; Scarpato, Margherita; Scholl, Hendrik P. N.; Sharon, Dror; Signorini, Sabrina G.; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S.; Szabó, Viktória; Szaflik, Jacek P.; Taurina, Gita; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tran, Viet H.; Tsilimbaris, Miltiadis K.; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L. Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J. M.; Vincent, Andrea L.; Webster, Andrew R.; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G.; Yoshitake, Kazutoshi; Zenteno, Juan C.; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I.; Lin, Siying; Cremers, Frans P. M.; Lee, Winston; Ellingford, Jamie M.; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Nature Genetics. 58(1):169-179

M. Bouckaert; F. Van Den Broeck; M. Ghazvini; A. Dueñas Rey; H. Lenaerts; A. Dheedene; K. Claes; E. De Baere; B.P. Leroy; J. De Zaeytijd; F. Coppieters

Stem Cell Research, Vol 86, Iss , Pp 103739- (2025)

Buena-Atienza, E; Ruether, K; Baumann, B; Bergholz, R; Birch, D; De, Baere E; Dollfus, H; Greally, MT; Gustavsson, P; Hamel, CP

SCIENTIFIC REPORTS. 6

Ochieng, Phillis E.; Kemboi, David C.; Okoth, Sheila; De Baere, Siegrid; Cavalier, Etienne; Kang'ethe, Erastus; Doupovec, Barbara; Gathumbi, James; Scippo, Marie-Louise; Antonissen, Gunther; Lindahl, Johanna F.; Croubels, Siska

Mycotoxin Research. 41(1):63-75

Vulto-van Silfhout, A.T.; Jazet, I.M.; Yzer, S.; Pas, J.A.A.H.; Demirdas, S.; van Rossum, E.F.C.; Thiadens, A.A.H.J.; van Beek, R.; Haer-Wigman, L.; Barge-Schaapveld, D.Q.C.M.; Brasch-Andersen, C.; Frost, S.; Bauwens, M.; De Baere, E.; Balikova, I.; Van den Broeck, F.; Weisz-Hubshman, M.; Joset, P.; Miny, P.; Filges, I.; Kohl, S.; De Angeli, P.; Kühlewein, L.; Bodenbender, J.P.; Haack, T.; Poths, K.; Fernandez-Caballero, L.; Corton, M.; Blanco Kelly, F.; Ayuso, C.; Martínez-Esteban, P.; Vissing, J.; Díaz-Manera, J.; Straub, V.; Töpf, A.; Lin, S.; Arno, G.; Macken, W.L.; Spillane, J.; Ramachandran, R.; de Vrieze, E.; van Ham, T.; Roosing, S.; Oud, M.M.

Silfhout, A V, Jazet, I M, Yzer, S, Pas, J, Demirdas, S, van Rossum, E F C, Thiadens, A A H J, van Beek, R, Haer-Wigman, L, Barge-Schaapveld, D Q C M, Brasch-Andersen, C, Frost, S, Bauwens, M, Baere, E D, Balikova, I, den Broeck, F V, Weisz-Hubshman, M, Joset, P, Miny, P, Filges, I, Kohl, S, Angeli, P D, Kühlewein, L, Bodenbender, J-P, Haack, T, Poths, K, Fernandez-Caballero, L, Corton, M, Kelly, F B, Ayuso, C, Martínez-Esteban, P, Vissing, J, Díaz-Manera, J, Straub, V, Töpf, A, Lin, S, Arno, G, Macken, W L, Spillane, J, Ramachandran, R, de Vrieze, E, van Ham, T, Roosing, S & Oud, M M 2025, 'Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy', Genetics in Medicine, vol. 27, no. 10, 101513. https://doi.org/10.1016/j.gim.2025.101513

Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Català-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jägle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, André; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Günther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias I.; Tsang, Stephen H.; Varsanyi, Balázs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne

Human Mutation. 43(7):832-858

Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Holtes, Lara K.; de Bruijn, Suzanne E.; Reurink, Janine; Boonen, Erica G.M.; Khan, Muhammad Imran; Ali, Manir; Andréasson, Sten; De Baere, Elfride; Banfi, Sandro; Bauwens, Miriam; Ben-Yosef, Tamar; Bocquet, Béatrice; De Bruyne, Marieke; Cerda, Berta de la; Coppieters, Frauke; Farinelli, Pietro; Guignard, Thomas; Inglehearn, Chris F.; Karali, Marianthi; Kjellström, Ulrika; Koenekoop, Robert; de Koning, Bart; Leroy, Bart P.; McKibbin, Martin; Meunier, Isabelle; Nikopoulos, Konstantinos; Nishiguchi, Koji M.; Poulter, James A.; Rivolta, Carlo; Rodríguez de la Rúa, Enrique; Saunders, Patrick; Simonelli, Francesca; Tatour, Yasmin; Testa, Francesco; Thiadens, Alberta A.H.J.; Toomes, Carmel; Tracewska, Anna M.; Tran, Hoai Viet; Ushida, Hiroaki; Vaclavik, Veronika; Verhoeven, Virginie J.M.; van de Vorst, Maartje; Gilissen, Christian; Hoischen, Alexander; Cremers, Frans P.M.; Roosing, Susanne

Frontiers in Cell and Developmental Biology. 11

De Baere, Siegrid; Ochieng, Phillis E. E.; Kemboi, David C. C.; Scippo, Marie-Louise; Okoth, Sheila; Lindahl, Johanna; Gathumbi, James K. K.; Antonissen, Gunther; Croubels, Siska

Toxins. 15(1)

E. El Rawadi; B. Bonnet; L. Pierotti; V. Boige; L. Tselikas; C. Smolenschi; M. Valéry; T. Pudlarz; A. Fuerea; T. De Baere; A. Tarabay; M. Gelli; E. Fernandez-de-Sevilla; D. Malka; A. Hollebecque; M. Ducreux; A. Boilève

ESMO Gastrointestinal Oncology, Vol 8, Iss , Pp 100173- (2025)

Suárez Herrera, N.; Riswick, I.B.; Vazquez Dominguez, I.; Duijkers, L.E.M.; Karjosukarso, D.W.; Piccolo, D.; Bauwens, M.; De Baere, E.; Cheetham, M.E.; Garanto, A.; Collin, R.W.J.

Molecular Therapy, 32, 3, pp. 837-851
MOLECULAR THERAPY
Molecular Therapy

Cansu de Muijnck; Lonneke Haer-Wigman; Judith A. M. van Everdingen; Tanya Lushchyk; Pam A. T. Heutinck; Marieke F. van Dooren; Anneke J. A. Kievit; Virginie J. M. Verhoeven; Marleen E. H. Simon; Rosemarie A. Wasmann; Irene C. Notting; Elfride De Baere; Sophie Walraedt; Julie De Zaeytijd; Filip Van den Broeck; Bart P. Leroy; Camiel J. F. Boon; Maria M. van Genderen

Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

McEntagart, M.; Williamson, K.A.; Rainger, J.K.; Wheeler, A.; Seawright, A.; De Baere, E.; Verdin, H.; Bergendahl, L. T.; Quigley, A.; Rainger, J.; Dixit, A.; Sarkar, A.; Lopez Laso, E.; Sanchez-Carpintero, R.; Barrio, J.; Bitoun, P.; Prescott, T.; Riise, R.; McKee, S.; Cook, J.; McKie, L.; Ceulemans, B.; Meire, F.; Temple, I.K.; Prieur, F.; Williams, J.; Clouston, P.; Nemeth, A.H.; Banka, S.; Bengani, H.; Handley, M.; Freyer, E.; Ross, A.; van Heyningen, V.; Marsh, J.A.; Elmslie, F.; FitzPatrick, D.R.

Am J Hum Genet
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
instname
The American journal of human genetics
American journal of human genetics, 98 (5
McEntagart, M, Williamson, K A, Rainger, J K, Wheeler, A, Seawright, A, De Baere, E, Verdin, H, Bergendahl, L T, Quigley, A, Rainger, J, Dixit, A, Lopaz Laso, E, Sanchez-Carpintero, R, Jesus, B, Bitoun, P, Prescott, T, Riise, R, McKee, S, Cook, J, McKie, L, Ceulemans, B, Meire, F, Temple, I K, Prieur, F, Williams, J, Clouston, P, Németh, A H, Banka, S, Bengani, H, Handley, M, Freyer, E, Ross, A, van Heyningen, V, Marsh, J A & Elmslie, F & FitzPatrick, D R 2016, ' A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect ', American Journal of Human Genetics, vol. 98, no. 5, pp. 981-992 . https://doi.org/10.1016/j.ajhg.2016.03.018
McEntagart, M, Williamson, K A, Rainger, J K, Wheeler, A, Seawright, A, De Baere, E, Verdin, H, Bergendahl, L T, Quigley, A, Rainger, J, Dixit, A, Sarkar, A, López Laso, E, Sanchez-Carpintero, R, Barrio, J, Bitoun, P, Prescott, T, Riise, R, McKee, S, Cook, J, McKie, L, Ceulemans, B, Meire, F, Temple, I K, Prieur, F, Williams, J, Clouston, P, Németh, A H, Banka, S, Bengani, H, Handley, M, Freyer, E, Ross, A, van Heyningen, V, Marsh, J A, Elmslie, F, FitzPatrick, D R & DDD Study 2016, 'A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect', American Journal of Human Genetics, vol. 98, no. 5, pp. 981-92. https://doi.org/10.1016/j.ajhg.2016.03.018
AMERICAN JOURNAL OF HUMAN GENETICS

Cherry, Timothy J.; Yang, Marty G.; Harmin, David A.; Tao, Peter; Timms, Andrew E.; Bauwens, Miriam; Allikmets, Rando; Jones, Evan M.; Chen, Rui; De Baere, Elfride; Greenberg, Michael E.

Proceedings of the National Academy of Sciences of the United States of America, 2020 Apr . 117(16), 9001-9012.

Quinodoz M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Rodenburg K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Cvackova Z; Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.; Kaminska K; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands.; Iglesias-Romero AB; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Boonen EGM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands.; Ullah M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Zomer N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Folcher M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Bijon J; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, Rothschild Foundation Hospital, Paris, France.; Holtes LK; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Tsang SH; Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center, New York, NY, USA.; Edward S. Harkness Eye Institute, Jonas Children's Vision Care (JCVC), Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY, USA.; Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Freund KB; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, NYU Grossman School of Medicine, New York, NY, USA.; Shliaga S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Panneman DM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Ali M; University of Leeds, Leeds, UK.; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; AlTalbishi A; Molecular Biology Research Unit, St John Eye Hospital Group, Jerusalem, Palestine.; Andréasson S; Department of Ophthalmology, University Hospital of Lund, Lund, Sweden.; Ansari G; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Arno G; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA.; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Ayyagari R; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.; Banfi S; Department of Precision Medicine, Medical Genetics, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Genomic Medicine, Telethon Institute of Genetics and Medicine, Pozzuoli, NA, Italy.; Banin E; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.; Barboni MTS; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Bauwens M; Center for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.; Ben-Yosef T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Birch DG; Retina Foundation of the Southwest, Dallas, TX, USA.; Biswas P; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.; Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Bocquet B; Institute for Neurosciences of Montpellier (INM), Montpellier University, Inserm, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Boon CJF; Department of Ophthalmology, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Branham K; Department of Ophthalmology and Human Genetics, University of Michigan, Ann Arbor, MI, USA.; Britten-Jones AC; Department of Optometry and Vision Sciences, Department of Surgery (Ophthalmology), The University of Melbourne, Melbourne, Victoria, Australia.; Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Cadena EL; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Calzetti G; Vista Vision Eye Clinic, Brescia, Italy.; Clinical Translation Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Cancellieri F; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Cattaneo L; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Issa PC; Department of Ophthalmology, TUM University Hospital, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Chadderton N; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin 2, Ireland.; Coutinho-Santos L; Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.; Daiger SP; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; De Baere E; Center for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.; de la Cerda B; Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre, CABIMER, Seville, Spain.; De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; De Zaeytijd J; Department of Head and Skin, Ghent University Hospital, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Dhaenens CM; Université de Lille, INSERM U1172 - LilNCog - Lille Neuroscience & Cognition, Lille, France.; Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Duncan JL; Department of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, San Francisco, CA, USA.; Farrar GJ; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin 2, Ireland.; Feltgen N; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Fernández-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Sallum JMF; Department of Ophthalmology, Federal University of São Paulo, UNIFESP, São Paulo, SP, Brazil.; Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Garanto A; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Gardner JC; UCL Institute of Ophthalmology, University College London, London, UK.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Goto K; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Gonzàlez-Duarte R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain.; Griffiths-Jones S; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Haack TB; Institute for Medical Genetics and Applied Genomics, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).; Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London, UK.; Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, Japan.; Héon E; Department of Ophthalmology and Vision Sciences, Ocular Genetics Program, The Hospital for Sick Children, Toronto, Ontario, Canada.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Holtan JP; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Ibanez MBB 4th; Department of Ophthalmology, Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, DOH Eye Center, East Avenue Medical Center, Quezon City, Metro Manila, Philippines.; Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, Makati Medical Center, Makati City, Philippines.; Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Iwata T; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro-ku, Tokyo, Japan.; Jones K; Retina Foundation of the Southwest, Dallas, TX, USA.; Kalatzis V; Institute for Neurosciences of Montpellier (INM), Montpellier University, Inserm, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Kamakari S; Department of Inherited Retinal Dystrophies, Ophthalmic Genetics group, OMMA, Ophthalmological Institute of Athens, Athens, Greece.; Karali M; Department of Precision Medicine, Medical Genetics, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Kellner U; Center for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.; Knézy K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Erasmus University Rotterdam, Rotterdam, The Netherlands.; Koenekoop RK; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.; Kohl S; Centre for Ophthalmology, University Eye Hospital, University Hospital Tübingen, Tübingen, Germany.; Kominami T; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Kühlewein L; Centre for Ophthalmology, University Eye Hospital, University Hospital Tübingen, Tübingen, Germany.; Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; Leroy BP; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Ghent University Hospital, Ghent, Belgium.; Martín-Gutiérrez MP; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Martins N; Center for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.; Mauring L; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Leibu R; Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel.; Lin S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Liskova P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Lopez I; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.; López-Rodríguez VRJ; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico.; Mahroo OA; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, UK.; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.; Manes G; INSERM U1298, Montpellier University, Institute for Neurosciences of Montpellier, Montpellier, France.; McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.; McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; Meunier I; Institute for Neurosciences of Montpellier (INM), Montpellier University, Inserm, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Millán JM; Instituto de Investigación Sanitaria La Fe (IIS La Fe) and CIBERER, Valencia, Spain.; Mizobuchi K; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, Japan.; Mukherjee R; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.; Nagy ZZ; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland.; Oorsprong M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Pan Y; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro-ku, Tokyo, Japan.; Papachristou A; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.; Percesepe A; Department of Medicine and Surgery, Medical Genetics, University of Parma, Parma, Italy.; Pfau M; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Pierce EA; Ocular Genomics institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Place E; Ocular Genomics institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Ramesar R; Department of Pathology, UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Rasquin FA; Ophthalmology department, HUB-Erasme Hospital, Brussels, Belgium.; Rice GI; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Roberts L; Department of Pathology, UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Rodríguez-Hidalgo M; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Genetic, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Spain.; Ruiz-Eddera J; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Ophthalmology, University of the Basque Country (UPV/EHU), San Sebastián, Spain.; Sabir AH; West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Sajiki AF; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Sánchez-Barbero AI; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Sarma AS; 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Department of Medical Genetics, ULS St Maria, Lisboa, Portugal.; Laboratory of Basic Immunology, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.; Stefaniotou M; Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece.; Stingl K; Centre for Ophthalmology, University Eye Hospital, University Hospital Tübingen, Tübingen, Germany.; Suga A; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro-ku, Tokyo, Japan.; Sullivan LS; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Szabó V; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.; SPKSO Ophthalmic University Hospital in Warsaw, Warsaw, Poland.; Taurina G; Medical Genetics and Prenatal Diagnostics Clinic, Children's Clinical University Hospital, Riga, Latvia.; Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Tran VH; Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Vaud, Switzerland.; Centre for Gene Therapy & Regenerative Medicine, King's College London, London, UK.; Tsilimbaris MK; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.; Tsoka P; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.; Vaclavik V; Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Vaud, Switzerland.; Vajter M; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Valeina S; 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Institute for Medical Genetics and Applied Genomics, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Landau C; Bonei Olam - Center for Rare Jewish Genetic Diseases, Brooklyn, NY, USA.; Jacob AI; Physicians Dialysis, Miami, FL, USA.; Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Lee W; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.; Ellingford JM; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Genomics England Ltd, London, UK.; Stanek D; Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.; Rivolta C; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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

Hahn, LC; Georgiou, M; Almushattat, H; van Schooneveld, MJ; de Carvalho, ER; Wesseling, NL; Ten Brink, JB; Florijn, RJ; Lissenberg-Witte, BI; Strubbe, I; van Cauwenbergh, C; de Zaeytijd, J; Walraedt, S; de Baere, E; Mukherjee, R; McKibbin, M; Meester-Smoor, MA; Thiadens, AAHJ; Al-Khuzaei, S; Akyol, E; Lotery, AJ; van Genderen, MM; Norel, JO-V; Ingeborgh van den Born, L; Hoyng, CB; Klaver, CCW; Downes, SM; Bergen, AA; Leroy, BP; Michaelides, M; Boon, CJF

Hahn, L C, Georgiou, M, Almushattat, H, van Schooneveld, M J, de Carvalho, E R, Wesseling, N L, ten Brink, J B, Florijn, R J, Lissenberg-Witte, B I, Strubbe, I, van Cauwenbergh, C, de Zaeytijd, J, Walraedt, S, de Baere, E, Mukherjee, R, McKibbin, M, Meester-Smoor, M A, Thiadens, A A H J, Al-Khuzaei, S, Akyol, E, Lotery, A J, van Genderen, M M, Ossewaarde-van Norel, J, van den Born, L I, Hoyng, C B, Klaver, C C W, Downes, S M, Bergen, A A, Leroy, B P, Michaelides, M & Boon, C J F 2022, 'The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene', Ophthalmology Retina, vol. 6, no. 8, pp. 711-722. https://doi.org/10.1016/j.oret.2022.03.008
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OPHTHALMOLOGY RETINA

Tabea V. Riepe; Merel Stemerdink; Renee Salz; Alfredo Dueñas Rey; Suzanne E. de Bruijn; Erica Boonen; Tomasz Z. Tomkiewicz; Michael Kwint; Jolein Gloerich; Hans J. C. T. Wessels; Emma Delanote; Elfride De Baere; Filip van Nieuwerburgh; Sarah De Keulenaer; Barbara Ferrari; Stefano Ferrari; Frauke Coppieters; Frans P. M. Cremers; Erwin van Wyk; Susanne Roosing; Erik de Vrieze; Peter A. C. ‘t Hoen

Frontiers in Genetics, Vol 15 (2024)

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Hum Reprod Open
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Human reproduction open, Vol. 2023, no.4, p. hoad047 (2023)
HUMAN REPRODUCTION OPEN

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Vincke L; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.; Van Schil K; Center for Medical Genetics Antwerp, Antwerp University Hospital, Antwerp, Belgium.; Ahmadieh H; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Moghaddasi A; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Sabbaghi H; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Daftarian N; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Motevasseli T; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Javanparast Sheykhani L; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Dehghani M; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Vahidi Mehrjardi MY; Diabetes Research Center, Non-communicable Diseases Research Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; De Bruyne M; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.; Mahieu Q; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.; Al-Hajj E; Free University of Brussels, Brussels, Belgium.; Del Pozo-Valero M; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.; Rosseel T; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.; Van Heetvelde M; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.; Maroofian R; Institute of Neurology, Department of Neuromuscular Diseases, University College London, London, United Kingdom.; Suri F; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran. fatemehsuri@gmail.com.; Bauwens M; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium. miriam.bauwens@ugent.be.; De Baere E; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium. elfride.debaere@ugent.be.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Bauwens M; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; De Man V; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.; Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, France.; Balikova I; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.; Zein WM; Ophthalmic Genetics and Visual Function Branch, NEI, NIH, Bethesda, Maryland, USA.; Smirnov V; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France.; Held S; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany.; Vermeer S; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Loos E; Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.; Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology (ExpORL), KU Leuven, University of Leuven, Leuven, Belgium.; Jacob J; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.; Casteels I; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.; Biomedical Sciences Group, Department of Neurosciences, Research Group Ophthalmology, Leuven, Belgium.; Désir J; Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, Belgium.; Depasse F; Department of Pediatric Ophthalmology, Queen Fabiola Children's University Hospital (HUDERF), Brussels, Belgium.; Van de Sompele S; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Van Heetvelde M; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; De Bruyne M; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Andrieu C; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, France.; Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Hufnagel R; Ophthalmic Genetics and Visual Function Branch, NEI, NIH, Bethesda, Maryland, USA.; Pathology Department, Genetics Department, Center for Integrated Healthcare Research, Kaiser Permanente, Honolulu, Hawaii, USA.; Carvalho AL; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.; University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.; Marques JP; University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.; Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.; University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.; Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.; Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; De Baere E; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Damme M; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE