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
Publication Date: 2021-07-01
Variant appearance in text: CEP290: 6401T>C; Ile2134Thr
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: CEP290: I2134T; rs117852025
Shaheen, Ranad R; Szymanska, Katarzyna K; Basu, Basudha B; Patel, Nisha N; Ewida, Nour N; Faqeih, Eissa E; Al Hashem, Amal A; Derar, Nada N; Alsharif, Hadeel H; Aldahmesh, Mohammed A MA; Alazami, Anas M AM; Hashem, Mais M; Ibrahim, Niema N; Abdulwahab, Firdous M FM; Sonbul, Rawda R; Alkuraya, Hisham H; Alnemer, Maha M; Al Tala, Saeed S; Al-Husain, Muneera M; Morsy, Heba H; Seidahmed, Mohammed Zain MZ; Meriki, Neama N; Al-Owain, Mohammed M; AlShahwan, Saad S; Tabarki, Brahim B; Salih, Mustafa A MA; , ; Faquih, Tariq T; El-Kalioby, Mohamed M; Ueffing, Marius M; Boldt, Karsten K; Logan, Clare V CV; Parry, David A DA; Al Tassan, Nada N; Monies, Dorota D; Megarbane, Andre A; Abouelhoda, Mohamed M; Halees, Anason A; Johnson, Colin A CA; Alkuraya, Fowzan S FS
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
American Journal Of Human Genetics
Lindstrand, Anna A; Frangakis, Stephan S; Carvalho, Claudia M B CM; Richardson, Ellen B EB; McFadden, Kelsey A KA; Willer, Jason R JR; Pehlivan, Davut D; Liu, Pengfei P; Pediaditakis, Igor L IL; Sabo, Aniko A; Lewis, Richard Alan RA; Banin, Eyal E; Lupski, James R JR; Davis, Erica E EE; Katsanis, Nicholas N
Publication Date: 2016-08-04
Variant appearance in text: CEP290: 6401T>C; Ile2134Thr
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: CEP290: 6401T>C; I2134T; rs117852025
Clonal relationships between lobular carcinoma in situ and other breast malignancies.
Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: CEP290: I2134T; rs117852025
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Plos One
Watson, Christopher M CM; El-Asrag, Mohammed M; Parry, David A DA; Morgan, Joanne E JE; Logan, Clare V CV; Carr, Ian M IM; Sheridan, Eamonn E; Charlton, Ruth R; Johnson, Colin A CA; Taylor, Graham G; Toomes, Carmel C; McKibbin, Martin M; Inglehearn, Chris F CF; Ali, Manir M
Publication Date: 2014
Variant appearance in text: CEP290: 6401T>C; Ile2134Thr
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L