Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
Assessing the implications of positive genomic screening results.
Personalized Medicine
Waltz, Margaret M; Meagher, Karen M KM; Henderson, Gail E GE; Goddard, Katrina Ab KA; Muessig, Kristin K; Berg, Jonathan S JS; Weck, Karen E KE; Cadigan, R Jean RJ
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.
Archives Of Endocrinology And Metabolism
Martins-Costa, Maria Cecília MC; Lindsey, Susan C SC; Cunha, Lucas L LL; Carreiro-Filho, Fernando Porto FP; Cortez, André P AP; Holanda, Marcelo E ME; Farias, J Wilson M de JWM; Lima, Sérgio B SB; Ferreira, Luís A Albano LAA; Maia Filho, Pedro Collares PC; Camacho, Cléber P CP; Furuzawa, Gilberto K GK; Kunii, Ilda S IS; Dias-da-Silva, Magnus R MR; Martins, João R M JRM; Maciel, Rui M B RMB
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Richter, Susan S; Gieldon, Laura L; Pang, Ying Y; Peitzsch, Mirko M; Huynh, Thanh T; Leton, Rocio R; Viana, Bruna B; Ercolino, Tonino T; Mangelis, Anastasios A; Rapizzi, Elena E; Menschikowski, Mario M; Aust, Daniela D; Kroiss, Matthias M; Beuschlein, Felix F; Gudziol, Volker V; Timmers, Henri Jlm HJ; Lenders, Jacques J; Mannelli, Massimo M; Cascon, Alberto A; Pacak, Karel K; Robledo, Mercedes M; Eisenhofer, Graeme G; Klink, Barbara B
Publication Date: 2019-03
Variant appearance in text: RET: 1852T>G; Cys618Gly
Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.
Journal Of Endocrinological Investigation
Fanis, P P; Skordis, N N; Frangos, S S; Christopoulos, G G; Spanou-Aristidou, E E; Andreou, E E; Manoli, P P; Mavrommatis, M M; Nicolaou, S S; Kleanthous, M M; Cariolou, M A MA; Christophidou-Anastasiadou, V V; Tanteles, G A GA; Phylactou, L A LA; Neocleous, V V
Detection and Prognostic Significance of Circulating Tumor Cells in Patients With Metastatic Thyroid Cancer.
The Journal Of Clinical Endocrinology And Metabolism
Xu, Jian Yu JY; Handy, Beverly B; Michaelis, Christina L CL; Waguespack, Steven G SG; Hu, Mimi I MI; Busaidy, Naifa N; Jimenez, Camilo C; Cabanillas, Maria E ME; Fritsche, Herbert A HA; Cote, Gilbert J GJ; Sherman, Steven I SI
Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.
Oncology
Heilmann, Andreas M AM; Subbiah, Vivek V; Wang, Kai K; Sun, James X JX; Elvin, Julia A JA; Chmielecki, Juliann J; Sherman, Steven I SI; Murthy, Ravi R; Busaidy, Naifa L NL; Subbiah, Ishwaria I; Yelensky, Roman R; Nangia, Chaitali C; Vergilio, Jo-Anne JA; Khan, Saad A SA; Erlich, Rachel L RL; Lipson, Doron D; Ross, Jeffrey S JS; Miller, Vincent A VA; Shah, Manisha H MH; Ali, Siraj M SM; Stephens, Philip J PJ
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Endocrine-Related Cancer
Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP
MicroRNA profiles in familial and sporadic medullary thyroid carcinoma: preliminary relationships with RET status and outcome.
Thyroid : Official Journal Of The American Thyroid Association
Mian, Caterina C; Pennelli, Gianmaria G; Fassan, Matteo M; Balistreri, Mariangela M; Barollo, Susi S; Cavedon, Elisabetta E; Galuppini, Francesca F; Pizzi, Marco M; Vianello, Federica F; Pelizzo, Maria Rosa MR; Girelli, Maria Elisa ME; Rugge, Massimo M; Opocher, Giuseppe G