Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: CEP290: 4723A>T; Lys1575Ter
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Cells
Vázquez-Domínguez, Irene I; Duijkers, Lonneke L; Fadaie, Zeinab Z; Alaerds, Eef C W ECW; Post, Merel A MA; van Oosten, Edwin M EM; O'Gorman, Luke L; Kwint, Michael M; Koolen, Louet L; Hoogendoorn, Anita D M ADM; Kroes, Hester Y HY; Gilissen, Christian C; Cremers, Frans P M FPM; Collin, Rob W J RWJ; Roosing, Susanne S; Garanto, Alejandro A
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.
Nature Medicine
Russell, Stephen R SR; Drack, Arlene V AV; Cideciyan, Artur V AV; Jacobson, Samuel G SG; Leroy, Bart P BP; Van Cauwenbergh, Caroline C; Ho, Allen C AC; Dumitrescu, Alina V AV; Han, Ian C IC; Martin, Mitchell M; Pfeifer, Wanda L WL; Sohn, Elliott H EH; Walshire, Jean J; Garafalo, Alexandra V AV; Krishnan, Arun K AK; Powers, Christian A CA; Sumaroka, Alexander A; Roman, Alejandro J AJ; Vanhonsebrouck, Eva E; Jones, Eltanara E; Nerinckx, Fanny F; De Zaeytijd, Julie J; Collin, Rob W J RWJ; Hoyng, Carel C; Adamson, Peter P; Cheetham, Michael E ME; Schwartz, Michael R MR; den Hollander, Wilhelmina W; Asmus, Friedrich F; Platenburg, Gerard G; Rodman, David D; Girach, Aniz A
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Investigative Ophthalmology & Visual Science
Testa, Francesco F; Sodi, Andrea A; Signorini, Sabrina S; Di Iorio, Valentina V; Murro, Vittoria V; Brunetti-Pierri, Raffaella R; Valente, Enza Maria EM; Karali, Marianthi M; Melillo, Paolo P; Banfi, Sandro S; Simonelli, Francesca F
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.
Retina (Philadelphia, Pa.)
Leroy, Bart P BP; Birch, David G DG; Duncan, Jacque L JL; Lam, Byron L BL; Koenekoop, Robert K RK; Porto, Fernanda B O FBO; Russell, Stephen R SR; Girach, Aniz A
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Molecular Genetics & Genomic Medicine
Barroso-Gil, Miguel M; Olinger, Eric E; Ramsbottom, Simon A SA; Molinari, Elisa E; Miles, Colin G CG; Sayer, John A JA
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Molecular Genetics & Genomic Medicine
Barroso-Gil, Miguel M; Olinger, Eric E; Ramsbottom, Simon A SA; Molinari, Elisa E; Miles, Colin G CG; Sayer, John A JA
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02
Variant appearance in text: CEP290: 4723A>T; Lys1575Ter
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Ramsbottom, Simon A SA; Thelwall, Peter E PE; Wood, Katrina M KM; Clowry, Gavin J GJ; Devlin, Laura A LA; Silbermann, Flora F; Spiewak, Helena L HL; Shril, Shirlee S; Molinari, Elisa E; Hildebrandt, Friedhelm F; Gunay-Aygun, Meral M; Saunier, Sophie S; Cordell, Heather J HJ; Sayer, John A JA; Miles, Colin G CG
Publication Date: 2020-01-14
Variant appearance in text: CEP290: 4723A>T; Lys1575*
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: CEP290: 4723A>T; Lys1575*; rs137852834
Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity.
Obesity Facts
Savas, Mesut M; Wester, Vincent L VL; Visser, Jenny A JA; Kleinendorst, Lotte L; van der Zwaag, Bert B; van Haelst, Mieke M MM; van den Akker, Erica L T ELT; van Rossum, Elisabeth F C EFC
Publication Date: 2019
Variant appearance in text: CEP290: 4723A>T; Lys1575*
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Molecular Therapy. Nucleic Acids
Dulla, Kalyan K; Aguila, Monica M; Lane, Amelia A; Jovanovic, Katarina K; Parfitt, David A DA; Schulkens, Iris I; Chan, Hee Lam HL; Schmidt, Iris I; Beumer, Wouter W; Vorthoren, Lars L; Collin, Rob W J RWJ; Garanto, Alejandro A; Duijkers, Lonneke L; Brugulat-Panes, Anna A; Semo, Ma'ayan M; Vugler, Anthony A AA; Biasutto, Patricia P; Adamson, Peter P; Cheetham, Michael E ME
Publication Date: 2018-09-07
Variant appearance in text: CEP290: 4723A>T; Lys1575X
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.
International Journal Of Molecular Sciences
Duijkers, Lonneke L; van den Born, L Ingeborgh LI; Neidhardt, John J; Bax, Nathalie M NM; Pierrache, Laurence H M LHM; Klevering, B Jeroen BJ; Collin, Rob W J RWJ; Garanto, Alejandro A
Publication Date: 2018-03-07
Variant appearance in text: CEP290: 4723A>T; Lys1575*
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
Ophthalmology
Sheck, Leo L; Davies, Wayne I L WIL; Moradi, Phillip P; Robson, Anthony G AG; Kumaran, Neruban N; Liasis, Alki C AC; Webster, Andrew R AR; Moore, Anthony T AT; Michaelides, Michel M
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.
Genes
Roosing, Susanne S; Cremers, Frans P M FPM; Riemslag, Frans C C FCC; Zonneveld-Vrieling, Marijke N MN; Talsma, Herman E HE; Klessens-Godfroy, Francoise J M FJM; den Hollander, Anneke I AI; van den Born, L Ingeborgh LI
Publication Date: 2017-08-22
Variant appearance in text: CEP290: 4723A>T; Lys1575*
Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia.
Molecular Psychiatry
Teng, S S; Thomson, P A PA; McCarthy, S S; Kramer, M M; Muller, S S; Lihm, J J; Morris, S S; Soares, D C DC; Hennah, W W; Harris, S S; Camargo, L M LM; Malkov, V V; McIntosh, A M AM; Millar, J K JK; Blackwood, D H DH; Evans, K L KL; Deary, I J IJ; Porteous, D J DJ; McCombie, W R WR
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
Nature Communications
Litchfield, Kevin K; Levy, Max M; Dudakia, Darshna D; Proszek, Paula P; Shipley, Claire C; Basten, Sander S; Rapley, Elizabeth E; Bishop, D Timothy DT; Reid, Alison A; Huddart, Robert R; Broderick, Peter P; Castro, David Gonzalez de DG; O'Connor, Simon S; Giles, Rachel H RH; Houlston, Richard S RS; Turnbull, Clare C
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Genetic Testing And Molecular Biomarkers
Silver, Ari J AJ; Larson, Jessica L JL; Silver, Maxwell J MJ; Lim, Regine M RM; Borroto, Carlos C; Spurrier, Brett B; Morriss, Anne A; Silver, Lee M LM
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Plos One
Weisschuh, Nicole N; Mayer, Anja K AK; Strom, Tim M TM; Kohl, Susanne S; Glöckle, Nicola N; Schubach, Max M; Andreasson, Sten S; Bernd, Antje A; Birch, David G DG; Hamel, Christian P CP; Heckenlively, John R JR; Jacobson, Samuel G SG; Kamme, Christina C; Kellner, Ulrich U; Kunstmann, Erdmute E; Maffei, Pietro P; Reiff, Charlotte M CM; Rohrschneider, Klaus K; Rosenberg, Thomas T; Rudolph, Günther G; Vámos, Rita R; Varsányi, Balázs B; Weleber, Richard G RG; Wissinger, Bernd B
Publication Date: 2016
Variant appearance in text: CEP290: 4723A>T; K1575*
Joubert syndrome: genotyping a Northern European patient cohort.
European Journal Of Human Genetics : Ejhg
Kroes, Hester Y HY; Monroe, Glen R GR; van der Zwaag, Bert B; Duran, Karen J KJ; de Kovel, Carolien G CG; van Roosmalen, Mark J MJ; Harakalova, Magdalena M; Nijman, Ies J IJ; Kloosterman, Wigard P WP; Giles, Rachel H RH; Knoers, Nine V A M NV; van Haaften, Gijs G
Publication Date: 2016-02
Variant appearance in text: CEP290: 4723A>T; Lys1575*; rs137852834
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Journal Of Medical Genetics
Wang, Xia X; Wang, Hui H; Sun, Vincent V; Tuan, Han-Fang HF; Keser, Vafa V; Wang, Keqing K; Ren, Huanan H; Lopez, Irma I; Zaneveld, Jacques E JE; Siddiqui, Sorath S; Bowles, Stephanie S; Khan, Ayesha A; Salvo, Jason J; Jacobson, Samuel G SG; Iannaccone, Alessandro A; Wang, Feng F; Birch, David D; Heckenlively, John R JR; Fishman, Gerald A GA; Traboulsi, Elias I EI; Li, Yumei Y; Wheaton, Dianna D; Koenekoop, Robert K RK; Chen, Rui R
Publication Date: 2013-10
Variant appearance in text: CEP290: 4723A>T; K1575X
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Human Genetics
Halbritter, Jan J; Porath, Jonathan D JD; Diaz, Katrina A KA; Braun, Daniela A DA; Kohl, Stefan S; Chaki, Moumita M; Allen, Susan J SJ; Soliman, Neveen A NA; Hildebrandt, Friedhelm F; Otto, Edgar A EA; ,
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Human Molecular Genetics
Cideciyan, Artur V AV; Rachel, Rivka A RA; Aleman, Tomas S TS; Swider, Malgorzata M; Schwartz, Sharon B SB; Sumaroka, Alexander A; Roman, Alejandro J AJ; Stone, Edwin M EM; Jacobson, Samuel G SG; Swaroop, Anand A
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Human Mutation
Coppieters, Frauke F; Casteels, Ingele I; Meire, Françoise F; De Jaegere, Sarah S; Hooghe, Sally S; van Regemorter, Nicole N; Van Esch, Hilde H; Matuleviciene, Ausra A; Nunes, Luis L; Meersschaut, Valérie V; Walraedt, Sophie S; Standaert, Lieve L; Coucke, Paul P; Hoeben, Heidi H; Kroes, Hester Y HY; Vande Walle, Johan J; de Ravel, Thomy T; Leroy, Bart P BP; De Baere, Elfride E
Publication Date: 2010-10
Variant appearance in text: CEP290: 4723A>T; Lys1575X
Expanding CEP290 mutational spectrum in ciliopathies.
American Journal Of Medical Genetics. Part A
Travaglini, Lorena L; Brancati, Francesco F; Attie-Bitach, Tania T; Audollent, Sophie S; Bertini, Enrico E; Kaplan, Josseline J; Perrault, Isabelle I; Iannicelli, Miriam M; Mancuso, Brunella B; Rigoli, Luciana L; Rozet, Jean-Michel JM; Swistun, Dominika D; Tolentino, Jerlyn J; Dallapiccola, Bruno B; Gleeson, Joseph G JG; Valente, Enza Maria EM; , ; Zankl, A A; Leventer, R R; Grattan-Smith, P P; Janecke, A A; D'Hooghe, M M; Sznajer, Y Y; Van Coster, R R; Demerleir, L L; Dias, K K; Moco, C C; Moreira, A A; Kim, C Ae CA; Maegawa, G G; Petkovic, D D; Abdel-Salam, G M H GM; Abdel-Aleem, A A; Zaki, M S MS; Marti, I I; Quijano-Roy, S S; Sigaudy, S S; de Lonlay, P P; Romano, S S; Touraine, R R; Koenig, M M; Lagier-Tourenne, C C; Messer, J J; Collignon, P P; Wolf, N N; Philippi, H H; Kitsiou Tzeli, S S; Halldorsson, S S; Johannsdottir, J J; Ludvigsson, P P; Phadke, S R SR; Udani, V V; Stuart, B B; Magee, A A; Lev, D D; Michelson, M M; Ben-Zeev, B B; Fischetto, R R; Benedicenti, F F; Stanzial, F F; Borgatti, R R; Accorsi, P P; Battaglia, S S; Fazzi, E E; Giordano, L L; Pinelli, L L; Boccone, L L; Bigoni, S S; Ferlini, A A; Donati, M A MA; Caridi, G G; Divizia, M T MT; Faravelli, F F; Ghiggeri, G G; Pessagno, A A; Briguglio, M M; Briuglia, S S; Salpietro, C D CD; Tortorella, G G; Adami, A A; Castorina, P P; Lalatta, F F; Marra, G G; Riva, D D; Scelsa, B B; Spaccini, L L; Uziel, G G; Del Giudice, E E; Laverda, A M AM; Ludwig, K K; Permunian, A A; Suppiej, A A; Signorini, S S; Uggetti, C C; Battini, R R; Di Giacomo, M M; Cilio, M R MR; Di Sabato, M L ML; Leuzzi, V V; Parisi, P P; Pollazzon, M M; Silengo, M M; De Vescovi, R R; Greco, D D; Romano, C C; Cazzagon, M M; Simonati, A A; Al-Tawari, A A AA; Bastaki, L L; Mégarbané, A A; Sabolic Avramovska, V V; de Jong, M M MM; Stromme, P P; Koul, R R; Rajab, A A; Azam, M M; Barbot, C C; Martorell Sampol, L L; Rodriguez, B B; Pascual-Castroviejo, I I; Teber, S S; Anlar, B B; Comu, S S; Karaca, E E; Kayserili, H H; Yüksel, A A; Akcakus, M M; Al Gazali, L L; Sztriha, L L; Nicholl, D D; Woods, C G CG; Bennett, C C; Hurst, J J; Sheridan, E E; Barnicoat, A A; Hennekam, R R; Lees, M M; Blair, E E; Bernes, S S; Sanchez, H H; Clark, A E AE; DeMarco, E E; Donahue, C C; Sherr, E E; Hahn, J J; Sanger, T D TD; Gallager, T E TE; Dobyns, W B WB; Daugherty, C C; Krishnamoorthy, K S KS; Sarco, D D; Walsh, C A CA; McKanna, T T; Milisa, J J; Chung, W K WK; De Vivo, D C DC; Raynes, H H; Schubert, R R; Seward, A A; Brooks, D G DG; Goldstein, A A; Caldwell, J J; Finsecke, E E; Maria, B L BL; Holden, K K; Cruse, R P RP; Swoboda, K J KJ; Viskochil, D D
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
American Journal Of Human Genetics
Brancati, Francesco F; Barrano, Giuseppe G; Silhavy, Jennifer L JL; Marsh, Sarah E SE; Travaglini, Lorena L; Bielas, Stephanie L SL; Amorini, Maria M; Zablocka, Dominika D; Kayserili, Hulya H; Al-Gazali, Lihadh L; Bertini, Enrico E; Boltshauser, Eugen E; D'Hooghe, Marc M; Fazzi, Elisa E; Fenerci, Elif Y EY; Hennekam, Raoul C M RC; Kiss, Andrea A; Lees, Melissa M MM; Marco, Elysa E; Phadke, Shubha R SR; Rigoli, Luciana L; Romano, Stephane S; Salpietro, Carmelo D CD; Sherr, Elliott H EH; Signorini, Sabrina S; Stromme, Petter P; Stuart, Bernard B; Sztriha, Laszlo L; Viskochil, David H DH; Yuksel, Adnan A; Dallapiccola, Bruno B; , ; Valente, Enza Maria EM; Gleeson, Joseph G JG