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by Turcot, Valérie and Lu, Yingchang and Highland, Heather M and Schurmann, Claudia and Justice, Anne E and Fine, Rebecca S and Bradfield, Jonathan P and Esko, Tõnu and Giri, Ayush and Graff, Mariaelisa and Guo, Xiuqing and Hendricks, Audrey E and Karaderi, Tugce and Lempradl, Adelheid and Locke, Adam E and Mahajan, Anubha and Marouli, Eirini and Sivapalaratnam, Suthesh and Young, Kristin L and Alfred, Tamuno and Feitosa, Mary F and Masca, Nicholas G. D and Manning, Alisa K and Medina-Gomez, Carolina and Mudgal, Poorva and Ng, Maggie C. Y and Reiner, Alex P and Vedantam, Sailaja and Willems, Sara M and Winkler, Thomas W and Abecasis, Gonçalo and Aben, Katja K and Alam, Dewan S and Alharthi, Sameer E and Allison, Matthew and Amouyel, Philippe and Asselbergs, Folkert W and Auer, Paul L and Balkau, Beverley and Bang, Lia E and Barroso, Inês and Bastarache, Lisa and Benn, Marianne and Bergmann, Sven and Bielak, Lawrence F and Blüher, Matthias and Boehnke, Michael and Boeing, Heiner and Boerwinkle, Eric and Böger, Carsten A and Bork-Jensen, Jette and Bots, Michiel L and Bottinger, Erwin P and Bowden, Donald W and Brandslund, Ivan and Breen, Gerome and Brilliant, Murray H and Broer, Linda and Brumat, Marco and Burt, Amber A and Butterworth, Adam S and Campbell, Peter T and Cappellani, Stefania and Carey, David J and Catamo, Eulalia and Caulfield, Mark J and Chambers, John C and Chasman, Daniel I and Chen, Yii-Der I and Chowdhury, Rajiv and Christensen, Cramer and Chu, Audrey Y and Cocca, Massimiliano and Cook, James P and Corley, Janie and Corominas Galbany, Jordi and Cox, Amanda J and Crosslin, David S and Cuellar-Partida, Gabriel and D'Eustacchio, Angela and Danesh, John and Davies, Gail and Bakker, Paul I. W and Groot, Mark C. H and Mutsert, Renée and Deary, Ian J and Dedoussis, George and Demerath, Ellen W and Heijer, Martin and Hollander, Anneke I and Ruijter, Hester M and Dennis, Joe G and Denny, Josh C and Angelantonio, Emanuele and Drenos, Fotios and Du, Mengmeng and Dubé, Marie-Pierre and Dunning, Alison M and Easton, Douglas F and Edwards, Todd L and ... and Chd Exome Consortium and EPIC InterAct Consortium and Global Lipids Genetic Consortium and GoT2D Genes Consortium and MAGIC Investigators and Understanding Soc Sci Grp and ReproGen Consortium and Interval Study and Epic-Cvd Consortium and ExomeBP Consortium and T2D-Genes Consortium and INTERVAL Study and EPIC-CVD Consortium and EPIC InterAct Consortium and CHD Exome+ Consortium and Understanding Society Scientific Group and The MAGIC Investigators and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Enheten för biobanksforskning and Allmänmedicin and Umeå universitet and Medicin
Nature Genetics, ISSN 1061-4036, 01/2018, Volume 50, Issue 1, pp. 26 - 35
Journal Article
Journal Article
by Strawbridge, Rona J and Dupuis, Josée and Prokopenko, Inga and Barker, Adam and Ahlqvist, Emma and Rybin, Denis and Petrie, John R and Travers, Mary E and Bouatia-Naji, Nabila and Dimas, Antigone S and Nica, Alexana and Wheeler, Eleanor and Chen, Han and Voight, Benjamin F and Taneera, Jalal and Kanoni, Stavroula and Peden, John F and Turrini, Fabiola and Gustafsson, Stefan and Zabena, Carina and Almgren, Peter and Barker, David J. P and Barnes, Daniel and Dennison, Elaine M and Eriksson, Johan G and Eriksson, Per and Eury, Elodie and Folkersen, Lasse and Fox, Caroline S and Frayling, Timothy M and Goel, Anuj and Gu, Harvest F and Horikoshi, Momoko and Isomaa, Bo and Jackson, Anne U and Jameson, Karen A and Kajantie, Eero and Kerr-Conte, Julie and Kuulasmaa, Teemu and Kuusisto, Johanna and Loos, Ruth J. F and Luan, Jian'an and Makrilakis, Konstantinos and Manning, Alisa K and Martínez-Larrad, María Teresa and Narisu, Narisu and Nastase Mannila, Maria and Ohrvik, John and Osmond, Clive and Pascoe, Laura and Payne, Felicity and Sayer, Avan A and Sennblad, Bengt and Silveira, Angela and Stancáková, Alena and Stirrups, Kathy and Swift, Amy J and Syvänen, Ann-Christine and Tuomi, Tiinamaija and van 't Hooft, Ferdinand M and Walker, Mark and Weedon, Michael N and Xie, Weijia and Zethelius, Björn and Ongen, Halit and Mälarstig, Anders and Hopewell, Jemma C and Saleheen, Danish and Chambers, John and Parish, Sarah and Danesh, John and Kooner, Jaspal and Ostenson, Claes-Göran and Lind, Lars and Cooper, Cyrus C and Serrano-Ríos, Manuel and Ferrannini, Ele and Forsen, Tom J and Clarke, Robert and Franzosi, Maria Grazia and Seedorf, Udo and Watkins, Hugh and Froguel, Philippe and Johnson, Paul and Deloukas, Panos and Collins, Francis S and Laakso, Markku and Dermitzakis, Emmanouil T and Boehnke, Michael and McCarthy, Mark I and Wareham, Nicholas J and Groop, Leif and Pattou, François and Gloyn, Anna L and Dedoussis, George V and Lyssenko, Valeriya and Meigs, James B and Barroso, Inês and Watanabe, Richard M and Ingelsson, Erik and ... and C4D Consortium and DIAGRAM Consortium and GIANT Consortium and CARDIoGRAM Consortium and MuTHER Consortium and the MuTHER Consortium and the CARDIoGRAM Consortium and the C4D Consortium and the DIAGRAM Consortium and the GIANT Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Molekylär medicin and Geriatrik and Uppsala universitet and Institutionen för medicinska vetenskaper and Institutionen för folkhälso- och vårdvetenskap
Diabetes, ISSN 0012-1797, 2011, Volume 60, Issue 10, pp. 2624 - 2634
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2016, Volume 374, Issue 20, pp. 1996 - 1998
In this study, the subfoveal injection of a gene-therapy vector carrying nonmutated CHM, the gene that, when mutated, causes a form of blindness called... 
MEDICINE, GENERAL & INTERNAL | Cataract - complications | Genetic Therapy | Choroideremia - complications | Humans | Retina | Choroideremia - therapy | Visual Acuity | Cataracts | Diabetic retinopathy | Medical research | Congenital diseases | Blindness | Traffic accidents & safety | Injection | Gene therapy | Patients | Acuity
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 09/2019, Volume 9, Issue 1, pp. 1 - 8
Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as... 
FRAMEWORK | RECESSIVE OCULAR ALBINISM | TYROSINASE | MULTIDISCIPLINARY SCIENCES | MUTATION | Neurological diseases | Next-generation sequencing | Albinism | Nucleotide sequence | Vision | Phenotyping | Nystagmus | Genetic screening | DNA sequencing
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 619 - 627
Journal Article