Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.
Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29
Variant appearance in text: RET: 2944C>T; Arg982Cys; rs17158558
Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.
Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2022-01
Variant appearance in text: RET: 2944C>T; Arg982Cys; rs17158558
Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.
Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2021-11-17
Variant appearance in text: RET: 2944C>T; Arg982Cys; rs17158558
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: RET: 2944C>T; Arg982Cys; rs17158558
Molecular Profiling of 22 Primary Atypical Meningiomas Shows the Prognostic Significance of 18q Heterozygous Loss and CDKN2A/B Homozygous Deletion on Recurrence-Free Survival.
Cancers
Barresi, Valeria V; Simbolo, Michele M; Fioravanzo, Adele A; Piredda, Maria Liliana ML; Caffo, Maria M; Ghimenton, Claudio C; Pinna, Giampietro G; Longhi, Michele M; Nicolato, Antonio A; Scarpa, Aldo A
Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.
Molecular Oncology
Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.
International Journal Of Molecular Sciences
Snezhkina, Anastasiya V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Lukyanova, Elena N EN; Golovyuk, Alexander L AL; Fedorova, Maria S MS; Pudova, Elena A EA; Savvateeva, Maria V MV; Stepanov, Oleg A OA; Poloznikov, Andrey A AA; Demidova, Tatiana B TB; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Kudryavtseva, Anna V AV
Publication Date: 2020-09-22
Variant appearance in text: RET: 2944C>T; Arg982Cys; rs17158558
Pembrolizumab Activity in Recurrent High-Grade Gliomas with Partial or Complete Loss of Mismatch Repair Protein Expression: A Monocentric, Observational and Prospective Pilot Study.
Cancers
Lombardi, Giuseppe G; Barresi, Valeria V; Indraccolo, Stefano S; Simbolo, Michele M; Fassan, Matteo M; Mandruzzato, Susanna S; Simonelli, Matteo M; Caccese, Mario M; Pizzi, Marco M; Fassina, Arianna A; Padovan, Marta M; Masetto, Elena E; Gardiman, Marina Paola MP; Bonavina, Maria Giuseppina MG; Caffo, Maria M; Persico, Pasquale P; Chioffi, Franco F; Denaro, Luca L; Dei Tos, Angelo Paolo AP; Scarpa, Aldo A; Zagonel, Vittorina V
Publication Date: 2020-08-14
Variant appearance in text: RET: Arg982Cys; rs17158558
Tepede, Aisha A AA; Welch, James J; Lee, Maya M; Mandl, Adel A; Agarwal, Sunita K SK; Nilubol, Naris N; Patel, Dhaval D; Cochran, Craig C; Simonds, William F WF; Weinstein, Lee S LS; Jha, Abhishek A; Millo, Corina C; Pacak, Karel K; Blau, Jenny E JE
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: RET: 2944C>T; R982C; rs17158558
The molecular landscape of ETMR at diagnosis and relapse.
Nature
Lambo, Sander S; Gröbner, Susanne N SN; Rausch, Tobias T; Waszak, Sebastian M SM; Schmidt, Christin C; Gorthi, Aparna A; Romero, July Carolina JC; Mauermann, Monika M; Brabetz, Sebastian S; Krausert, Sonja S; Buchhalter, Ivo I; Koster, Jan J; Zwijnenburg, Danny A DA; Sill, Martin M; Hübner, Jens-Martin JM; Mack, Norman N; Schwalm, Benjamin B; Ryzhova, Marina M; Hovestadt, Volker V; Papillon-Cavanagh, Simon S; Chan, Jennifer A JA; Landgraf, Pablo P; Ho, Ben B; Milde, Till T; Witt, Olaf O; Ecker, Jonas J; Sahm, Felix F; Sumerauer, David D; Ellison, David W DW; Orr, Brent A BA; Darabi, Anna A; Haberler, Christine C; Figarella-Branger, Dominique D; Wesseling, Pieter P; Schittenhelm, Jens J; Remke, Marc M; Taylor, Michael D MD; Gil-da-Costa, Maria J MJ; Łastowska, Maria M; Grajkowska, Wiesława W; Hasselblatt, Martin M; Hauser, Peter P; Pietsch, Torsten T; Uro-Coste, Emmanuelle E; Bourdeaut, Franck F; Masliah-Planchon, Julien J; Rigau, Valérie V; Alexandrescu, Sanda S; Wolf, Stephan S; Li, Xiao-Nan XN; Schüller, Ulrich U; Snuderl, Matija M; Karajannis, Matthias A MA; Giangaspero, Felice F; Jabado, Nada N; von Deimling, Andreas A; Jones, David T W DTW; Korbel, Jan O JO; von Hoff, Katja K; Lichter, Peter P; Huang, Annie A; Bishop, Alexander J R AJR; Pfister, Stefan M SM; Korshunov, Andrey A; Kool, Marcel M
Publication Date: 2019-12
Variant appearance in text: RET: R982C; rs17158558
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Plos One
Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY
Publication Date: 2019
Variant appearance in text: RET: R982C; rs17158558
Introducing the first whole genomes of nationals from the United Arab Emirates.
Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
Publication Date: 2019-10-11
Variant appearance in text: RET: R982C; rs17158558
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
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30
Variant appearance in text: RET: R982C; rs17158558
Genetic and transcriptional evolution alters cancer cell line drug response.
Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08
Variant appearance in text: RET: 2944C>T; R982C; rs17158558
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30
Variant appearance in text: RET: 2944C>T; Arg982Cys; rs17158558
Large-scale replication study identified multiple independent SNPs in RET synergistically associated with Hirschsprung disease in Southern Chinese population.
Aging
Zhang, Yan Y; He, Qiuming Q; Zhang, Ruizhong R; Zhang, Hong H; Zhong, Wei W; Xia, Huimin H
Findings of a 1303 Korean whole-exome sequencing study.
Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14
Variant appearance in text: RET: R982C; rs17158558
Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.
Journal Of Clinical Laboratory Analysis
Szabadosova, Viktoria V; Boronova, Iveta I; Ferenc, Peter P; Tothova, Iveta I; Bernasovska, Jarmila J; Zigova, Michaela M; Kmec, Jan J; Bernasovsky, Ivan I
Publication Date: 2018-02
Variant appearance in text: RET: 2944C>T; rs17158558
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: RET: R982C; rs17158558
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bekheirnia, Mir Reza MR; Bekheirnia, Nasim N; Bainbridge, Matthew N MN; Gu, Shen S; Coban Akdemir, Zeynep Hande ZH; Gambin, Tomek T; Janzen, Nicolette K NK; Jhangiani, Shalini N SN; Muzny, Donna M DM; Michael, Mini M; Brewer, Eileen D ED; Elenberg, Ewa E; Kale, Arundhati S AS; Riley, Alyssa A AA; Swartz, Sarah J SJ; Scott, Daryl A DA; Yang, Yaping Y; Srivaths, Poyyapakkam R PR; Wenderfer, Scott E SE; Bodurtha, Joann J; Applegate, Carolyn D CD; Velinov, Milen M; Myers, Angela A; Borovik, Lior L; Craigen, William J WJ; Hanchard, Neil A NA; Rosenfeld, Jill A JA; Lewis, Richard Alan RA; Gonzales, Edmond T ET; Gibbs, Richard A RA; Belmont, John W JW; Roth, David R DR; Eng, Christine C; Braun, Michael C MC; Lupski, James R JR; Lamb, Dolores J DJ
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Cold Spring Harbor Molecular Case Studies
Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Publication Date: 2016-01
Variant appearance in text: RET: R982C; rs17158558
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.
European Journal Of Human Genetics : Ejhg
Widowati, Titis T; Melhem, Shamiram S; Patria, Suryono Y SY; de Graaf, Bianca M BM; Sinke, Richard J RJ; Viel, Martijn M; Dijkhuis, Jos J; Sadewa, Ahmad H AH; Purwohardjono, Rochadi R; Soenarto, Yati Y; Hofstra, Robert Mw RM; Sribudiani, Yunia Y
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: RET: 2944C>T; R982C; rs17158558
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: RET: R982C; rs17158558
Selective activity over a constitutively active RET-variant of the oral multikinase inhibitor dovitinib: results of the CNIO-BR002 phase I-trial.
Molecular Oncology
Quintela-Fandino, Miguel M; Bueno, Maria J MJ; Lombardia, Luis L; Gil, Marta M; Gonzalez-Martin, Antonio A; Marquez, Raul R; Bratos, Raquel R; Guerra, Juan J; Tan, Eugene E; Lopez, Antonio A; Colomer, Ramon R; Salazar, Ramon R
Publication Date: 2014-12
Variant appearance in text: RET: R982C; rs17158558