Publications:

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: NTRK1: R780Q; rs35669708

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications

Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V

Publication Date: 2022-09-07

Variant appearance in text: NTRK1: 2339G>A; R780Q

PubMed Link: 36071033

Variant Present in the following documents:

• 41467_2022_32828_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Oncomine™ Comprehensive Assay v3 vs. Oncomine™ Comprehensive Assay Plus.

Cancers

Vestergaard, Lau K LK; Oliveira, Douglas N P DNP; Poulsen, Tim S TS; Høgdall, Claus K CK; Høgdall, Estrid V EV

Publication Date: 2021-10-18

Variant appearance in text: NTRK1: Arg780Gln

PubMed Link: 34680378

Variant Present in the following documents:

• Main text
• cancers-13-05230.pdf

View BVdb publication page

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Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.

Bmc Medical Genomics

Kanwal, Sumaira S; Choi, Yu JIn YJ; Lim, Si On SO; Choi, Hee Ji HJ; Park, Jin Hee JH; Nuzhat, Rana R; Khan, Aneela A; Perveen, Shazia S; Choi, Byung-Ok BO; Chung, Ki Wha KW

Publication Date: 2021-06-30

Variant appearance in text: NTRK1: R780Q; rs35669708

PubMed Link: 34193129

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1019.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: NTRK1: R780Q; rs35669708

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.

Frontiers In Oncology

Xu, Yun Y; Li, Cong C; Zhang, Yuqin Y; Guo, Tian'an T; Zhu, Congcong C; Xu, Ye Y; Liu, Fangqi F

Publication Date: 2020

Variant appearance in text: NTRK1: Arg780Gln

PubMed Link: 32984025

Variant Present in the following documents:

• Main text
• fonc-10-01603.pdf

View BVdb publication page

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Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.

Bmc Medical Genomics

López-Cortés, Andrés A; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Echeverría, Byron Albuja BA; Guerrero, Santiago S; Cabascango, Eliana E; Pérez-Villa, Andy A; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Yumiceba, Verónica V; Pérez-M, Gabriela G; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-17

Variant appearance in text: rs35669708

PubMed Link: 32807182

Variant Present in the following documents:

• 12920_2020_764_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: NTRK1: 2339G>A; R780Q

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One

Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM

Publication Date: 2019

Variant appearance in text: NTRK1: 2339G>A; R780Q

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: rs35669708

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: NTRK1: R780Q; rs35669708

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: rs35669708

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 7

View BVdb publication page

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Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer

Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA

Publication Date: 2017-07-06

Variant appearance in text: rs35669708

PubMed Link: 28683746

Variant Present in the following documents:

• 12943_2017_691_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers.

Scientific Reports

Borad, Mitesh J MJ; Egan, Jan B JB; Condjella, Rachel M RM; Liang, Winnie S WS; Fonseca, Rafael R; Ritacca, Nicole R NR; McCullough, Ann E AE; Barrett, Michael T MT; Hunt, Katherine S KS; Champion, Mia D MD; Patel, Maitray D MD; Young, Scott W SW; Silva, Alvin C AC; Ho, Thai H TH; Halfdanarson, Thorvardur R TR; McWilliams, Robert R RR; Lazaridis, Konstantinos N KN; Ramanathan, Ramesh K RK; Baker, Angela A; Aldrich, Jessica J; Kurdoglu, Ahmet A; Izatt, Tyler T; Christoforides, Alexis A; Cherni, Irene I; Nasser, Sara S; Reiman, Rebecca R; Cuyugan, Lori L; McDonald, Jacquelyn J; Adkins, Jonathan J; Mastrian, Stephen D SD; Valdez, Riccardo R; Jaroszewski, Dawn E DE; Von Hoff, Daniel D DD; Craig, David W DW; Stewart, A Keith AK; Carpten, John D JD; Bryce, Alan H AH

Publication Date: 2016-12-23

Variant appearance in text: NTRK1: 2339G>A; Arg780Gln

PubMed Link: 28003660

Variant Present in the following documents:

• 41598_2016_21_MOESM1_ESM.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: NTRK1: R780Q

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: NTRK1: R780Q; rs35669708

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs35669708

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Bmc Medical Genetics

Antoniadi, Thalia T; Buxton, Chris C; Dennis, Gemma G; Forrester, Natalie N; Smith, Debbie D; Lunt, Peter P; Burton-Jones, Sarah S

Publication Date: 2015-09-21

Variant appearance in text: NTRK1: 2339G>A; Arg780Gln; rs35669708

PubMed Link: 26392352

Variant Present in the following documents:

• 12881_2015_224_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics

Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA

Publication Date: 2015-02-11

Variant appearance in text: rs35669708

PubMed Link: 25888430

Variant Present in the following documents:

• 12863_2015_177_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: NTRK1: R780Q; rs35669708

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Heterogeneity in the inter-tumor transcriptome of high risk prostate cancer.

Genome Biology

Wyatt, Alexander W AW; Mo, Fan F; Wang, Kendric K; McConeghy, Brian B; Brahmbhatt, Sonal S; Jong, Lina L; Mitchell, Devon M DM; Johnston, Rebecca L RL; Haegert, Anne A; Li, Estelle E; Liew, Janet J; Yeung, Jake J; Shrestha, Raunak R; Lapuk, Anna V AV; McPherson, Andrew A; Shukin, Robert R; Bell, Robert H RH; Anderson, Shawn S; Bishop, Jennifer J; Hurtado-Coll, Antonio A; Xiao, Hong H; Chinnaiyan, Arul M AM; Mehra, Rohit R; Lin, Dong D; Wang, Yuzhuo Y; Fazli, Ladan L; Gleave, Martin E ME; Volik, Stanislav V SV; Collins, Colin C CC

Publication Date: 2014-08-26

Variant appearance in text: NTRK1: R780Q

PubMed Link: 25155515

Variant Present in the following documents:

• 13059_2014_426_MOESM1_ESM.xlsx, sheet 13

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs35669708

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.

Nature Genetics

Barretina, Jordi J; Taylor, Barry S BS; Banerji, Shantanu S; Ramos, Alexis H AH; Lagos-Quintana, Mariana M; Decarolis, Penelope L PL; Shah, Kinjal K; Socci, Nicholas D ND; Weir, Barbara A BA; Ho, Alan A; Chiang, Derek Y DY; Reva, Boris B; Mermel, Craig H CH; Getz, Gad G; Antipin, Yevgenyi Y; Beroukhim, Rameen R; Major, John E JE; Hatton, Charles C; Nicoletti, Richard R; Hanna, Megan M; Sharpe, Ted T; Fennell, Tim J TJ; Cibulskis, Kristian K; Onofrio, Robert C RC; Saito, Tsuyoshi T; Shukla, Neerav N; Lau, Christopher C; Nelander, Sven S; Silver, Serena J SJ; Sougnez, Carrie C; Viale, Agnes A; Winckler, Wendy W; Maki, Robert G RG; Garraway, Levi A LA; Lash, Alex A; Greulich, Heidi H; Root, David E DE; Sellers, William R WR; Schwartz, Gary K GK; Antonescu, Cristina R CR; Lander, Eric S ES; Varmus, Harold E HE; Ladanyi, Marc M; Sander, Chris C; Meyerson, Matthew M; Singer, Samuel S

Publication Date: 2010-08

Variant appearance in text: NTRK1: R780Q; rs35669708

PubMed Link: 20601955

Variant Present in the following documents:

• NIHMS212743-supplement-4.xlsx, sheet 1

View BVdb publication page

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