Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24
Variant appearance in text: OCA2: 1327G>A; Val443Ile
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
Frontiers In Genetics
Marek-Yagel, Dina D; Abudi-Sinreich, Shachar S; Macarov, Michal M; Veber, Alvit A; Shalva, Nechama N; Philosoph, Amit Mary AM; Pode-Shakked, Ben B; Malicdan, May Christine V MCV; Anikster, Yair Y
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Nature Communications
Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, Benoît B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI
Publication Date: 2022-07-08
Variant appearance in text: OCA2: 1327G>A; Val443Ile
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Translational Vision Science & Technology
Litts, Katie M KM; Woertz, Erica N EN; Wynne, Niamh N; Brooks, Brian P BP; Chacon, Alicia A; Connor, Thomas B TB; Costakos, Deborah D; Dumitrescu, Alina A; Drack, Arlene V AV; Fishman, Gerald A GA; Hauswirth, William W WW; Kay, Christine N CN; Lam, Byron L BL; Michaelides, Michel M; Pennesi, Mark E ME; Stepien, Kimberly E KE; Strul, Sasha S; Summers, C Gail CG; Carroll, Joseph J
Discordant phenotypes in twins with infantile nystagmus.
Scientific Reports
Aamir, Abdullah A; Kuht, Helen J HJ; McLean, Rebecca J RJ; Maconachie, Gail D E GDE; Sheth, Viral V; Dawar, Basu B; Purohit, Ravi R; Sylvius, Nicolas N; Hisaund, Michael M; Zubcov-Iwantscheff, Alina A; Proudlock, Frank A FA; Gottlob, Irene I; Thomas, Mervyn G MG
High-depth African genomes inform human migration and health.
Nature
Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA
Publication Date: 2020-10
Variant appearance in text: OCA2: 1327G>A; Val443Ile
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Biomedicines
Stolarova, Lenka L; Jelinkova, Sandra S; Storchova, Radka R; Machackova, Eva E; Zemankova, Petra P; Vocka, Michal M; Kodet, Ondrej O; Kral, Jan J; Cerna, Marta M; Volkova, Zuzana Z; Janatova, Marketa M; Soukupova, Jana J; Stranecky, Viktor V; Dundr, Pavel P; Foretova, Lenka L; Macurek, Libor L; Kleiblova, Petra P; Kleibl, Zdenek Z
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Plos One
Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA
Publication Date: 2020
Variant appearance in text: OCA2: V443I; rs121918166
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.
Scientific Reports
Kidd, Kenneth K KK; Pakstis, Andrew J AJ; Donnelly, Michael P MP; Bulbul, Ozlem O; Cherni, Lotfi L; Gurkan, Cemal C; Kang, Longli L; Li, Hui H; Yun, Libing L; Paschou, Peristera P; Meiklejohn, Kelly A KA; Haigh, Eva E; Speed, William C WC
Publication Date: 2020-09-22
Variant appearance in text: OCA2: Val443Ile; rs121918166
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: OCA2: 1327G>A; Val443Ile
Clinical and genetic variability in children with partial albinism.
Scientific Reports
Campbell, Patrick P; Ellingford, Jamie M JM; Parry, Neil R A NRA; Fletcher, Tracy T; Ramsden, Simon C SC; Gale, Theodora T; Hall, Georgina G; Smith, Katherine K; Kasperaviciute, Dalia D; Thomas, Ellen E; Lloyd, I Chris IC; Douzgou, Sofia S; Clayton-Smith, Jill J; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C M GCM; Sergouniotis, Panagiotis I PI
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: OCA2: 1327G>A; Val443Ile; rs121918166
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
Scientific Reports
O'Gorman, Luke L; Norman, Chelsea S CS; Michaels, Luke L; Newall, Tutte T; Crosby, Andrew H AH; Mattocks, Christopher C; Cree, Angela J AJ; Lotery, Andrew J AJ; Baple, Emma L EL; Ratnayaka, J Arjuna JA; Baralle, Diana D; Lee, Helena H; Osborne, Daniel D; Shawkat, Fatima F; Gibson, Jane J; Ennis, Sarah S; Self, Jay E JE
Publication Date: 2019-09-13
Variant appearance in text: OCA2: V443I; rs121918166
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
International Journal Of Cancer
Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,
Publication Date: 2019-05-15
Variant appearance in text: OCA2: 1327G>A; Val443Ile
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: OCA2: V443I; rs121918166
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: OCA2: V443I; rs121918166
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: OCA2: 1327G>A; V443I; rs121918166
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Genome Medicine
Bowling, Kevin M KM; Thompson, Michelle L ML; Amaral, Michelle D MD; Finnila, Candice R CR; Hiatt, Susan M SM; Engel, Krysta L KL; Cochran, J Nicholas JN; Brothers, Kyle B KB; East, Kelly M KM; Gray, David E DE; Kelley, Whitley V WV; Lamb, Neil E NE; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Whittle, Jana S JS; Weaver, Benjamin T BT; Nesmith, Amy S AS; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM
Publication Date: 2017-05-30
Variant appearance in text: OCA2: 1327G>A; Val443Ile
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
Cell & Bioscience
Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X
Publication Date: 2017
Variant appearance in text: OCA2: 1327G>A; Val443Ile