Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: HAVCR2: 291A>G; Ile97Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Advances in the understanding and treatment of Cutaneous T-cell Lymphoma.

Frontiers In Oncology

Bakr, Farrah S FS; Whittaker, Sean J SJ

Publication Date: 2022

Variant appearance in text: HAVCR2: Ile97Met

PubMed Link: 36505788

Variant Present in the following documents:

• Main text
• fonc-12-1043254.pdf

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: HAVCR2: I97M

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genetics Abnormalities with Clinical Impact in Primary Cutaneous Lymphomas.

Cancers

Gallardo, Fernando F; Pujol, Ramon M RM

Publication Date: 2022-10-11

Variant appearance in text: HAVCR2: 291A>G

PubMed Link: 36291756

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent advances in cutaneous lymphoma-implications for current and future classifications.

Virchows Archiv : An International Journal Of Pathology

Goodlad, J R JR; Cerroni, L L; Swerdlow, S H SH

Publication Date: 2022-10-24

Variant appearance in text: HAVCR2: I97M

PubMed Link: 36278991

Variant Present in the following documents:

• Main text
• 428_2022_Article_3421.pdf

View BVdb publication page

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A novel germline HAVCR2 (TIM-3) compound heterozygous mutation is related to hemophagocytic lymphohistiocytic syndrome in EBV-positive peripheral T-cell lymphoma (NOS) with down-regulated TIM-3 signaling.

Frontiers In Oncology

Zhang, Yang Y; Wang, Zhihua Z; Hu, Guoyu G; Li, Jieping J; Chen, Yongheng Y; Jiang, Yi Y; Zhong, Haiying H; Liu, Xianling X; Hu, Chunhong C; Peng, Honglin H; Xu, Yunxiao Y; Cheng, Zhao Z; Zhang, Guangsen G

Publication Date: 2022

Variant appearance in text: HAVCR2: Ile97Met

PubMed Link: 36212426

Variant Present in the following documents:

• Main text
• fonc-12-870676.pdf

View BVdb publication page

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Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.

European Journal Of Cancer (Oxford, England : 1990)

Langenberg, Karin P S KPS; Meister, Michael T MT; Bakhuizen, Jette J JJ; Boer, Judith M JM; van Eijkelenburg, Natasha K A NKA; Hulleman, Esther E; Ilan, Uri U; Looze, Eleonora J EJ; Dierselhuis, Miranda P MP; van der Lugt, Jasper J; Breunis, Willemijn W; Schild, Linda G LG; Ober, Kimberley K; van Hooff, Sander R SR; Scheijde-Vermeulen, Marijn A MA; Hiemcke-Jiwa, Laura S LS; Flucke, Uta E UE; Kranendonk, Mariette E G MEG; Wesseling, Pieter P; Sonneveld, Edwin E; Punt, Simone S; Boltjes, Arjan A; van Dijk, Freerk F; Verwiel, Eugene T P ETP; Volckmann, Richard R; Hehir-Kwa, Jayne Y JY; Kester, Lennart A LA; Koudijs, Marco M J MMJ; Waanders, Esme E; Holstege, Frank C P FCP; Vormoor, H Josef HJ; Hoving, Eelco W EW; van Noesel, Max M MM; Pieters, Rob R; Kool, Marcel M; Stumpf, Miriam M; Blattner-Johnson, Mirjam M; Balasubramanian, Gnana P GP; Van Tilburg, Cornelis M CM; Jones, Barbara C BC; Jones, David T W DTW; Witt, Olaf O; Pfister, Stefan M SM; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; de Krijger, Ronald R RR; Wijnen, Marc H W MHW; den Boer, Monique L ML; Zwaan, C Michel CM; Kemmeren, Patrick P; Koster, Jan J; Tops, Bastiaan B J BBJ; Goemans, Bianca F BF; Molenaar, Jan J JJ

Publication Date: 2022-11

Variant appearance in text: HAVCR2: 291A>G; Ile97Met

PubMed Link: 36182817

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Subcutaneous Panniculitis-like T-cell Lymphoma with a HAVCR2 Mutation Diagnosed After 10 Years of Treatment with Glucocorticoids and Cyclosporine as Lupus Panniculitis: A Case Report.

Internal Medicine (Tokyo, Japan)

Yamamoto, Yoshiki Y; Mitsui, Asako A; Noda, Kentaro K; Suzuki, Yasuo Y; Sawaki, Akihiko A; Shinoki, Toshihiko T; Imai, Hiroshi H; Miyazaki, Kana K; Tawara, Isao I; Nakajima, Ayako A

Publication Date: 2022-09-28

Variant appearance in text: HAVCR2: Ile97Met

PubMed Link: 36171125

Variant Present in the following documents:

• 1349-7235-62-1537.pdf

View BVdb publication page

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Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.

Rmd Open

Atschekzei, Faranaz F; Dubrowinskaja, Natalia N; Anim, Manfred M; Thiele, Thea T; Witte, Torsten T; Sogkas, Georgios G

Publication Date: 2022-09

Variant appearance in text: HAVCR2: 291A>G; Ile97Met; rs35960726

PubMed Link: 36113963

Variant Present in the following documents:

• Main text
• rmdopen-2022-002561.pdf

View BVdb publication page

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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.

Scientific Reports

López-Rodríguez, Rosario R; Del Pozo-Valero, Marta M; Corton, Marta M; Minguez, Pablo P; Ruiz-Hornillos, Javier J; Pérez-Tomás, María Elena ME; Barreda-Sánchez, María M; Mancebo, Esther E; Villaverde, Cristina C; Núñez-Moreno, Gonzalo G; Romero, Raquel R; , ; Paz-Artal, Estela E; Guillén-Navarro, Encarna E; Almoguera, Berta B; Ayuso, Carmen C

Publication Date: 2022-06-20

Variant appearance in text: HAVCR2: 291A>G; Ile97Met

PubMed Link: 35725860

Variant Present in the following documents:

• Main text
• 41598_2022_14035_MOESM3_ESM.xlsx, sheet 1
• 41598_2022_Article_14035.pdf

View BVdb publication page

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Treatment of an HLH-mimic disease based on HAVCR2 variants with absent TIM-3 expression.

Blood Advances

Tromp, Samantha A M SAM; Gillissen, Marijn A MA; Bernelot Moens, Sophie J SJ; van Leeuwen, Ester M M EMM; Jansen, Machiel H MH; Koens, Lianne L; Rutten, Caroline E CE; Kuijpers, Taco W TW

Publication Date: 2022-08-09

Variant appearance in text: HAVCR2: Ile97Met

PubMed Link: 35588499

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Blood Advances

Koh, Jiwon J; Jang, Insoon I; Mun, Seungchan S; Lee, Cheol C; Cha, Hee Jeong HJ; Oh, Young Ha YH; Kim, Jin-Man JM; Han, Jae Ho JH; Paik, Jin Ho JH; Cho, Junhun J; Ko, Young Hyeh YH; Park, Chan-Sik CS; Go, Heounjeong H; Huh, Jooryung J; Kim, Kwangsoo K; Jeon, Yoon Kyung YK

Publication Date: 2021-10-26

Variant appearance in text: HAVCR2: I97M

PubMed Link: 34535012

Variant Present in the following documents:

• Main text
• advancesADV2021004562-suppl1.pdf
• advancesADV2021004562.pdf

View BVdb publication page

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TIM-3 in normal and malignant hematopoiesis: Structure, function, and signaling pathways.

Cancer Science

Kikushige, Yoshikane Y

Publication Date: 2021-09

Variant appearance in text: HAVCR2: Ile97Met

PubMed Link: 34159709

Variant Present in the following documents:

• Main text
• CAS-112-3419.pdf

View BVdb publication page

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TIM3 comes of age as an inhibitory receptor.

Nature Reviews. Immunology

Wolf, Yochai Y; Anderson, Ana C AC; Kuchroo, Vijay K VK

Publication Date: 2020-03

Variant appearance in text: TIM3: 291A>G

PubMed Link: 31676858

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human disease mutations highlight the inhibitory function of TIM-3.

Nature Genetics

Dixon, Karen O KO; Das, Madhumita M; Kuchroo, Vijay K VK

Publication Date: 2018-12

Variant appearance in text: HAVCR2: I97M

PubMed Link: 30405215

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: HAVCR2: I97M; rs35960726

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: HAVCR2: 291A>G; Ile97Met

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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: HAVCR2: I97M

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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CEACAM1 regulates TIM-3-mediated tolerance and exhaustion.

Nature

Huang, Yu-Hwa YH; Zhu, Chen C; Kondo, Yasuyuki Y; Anderson, Ana C AC; Gandhi, Amit A; Russell, Andrew A; Dougan, Stephanie K SK; Petersen, Britt-Sabina BS; Melum, Espen E; Pertel, Thomas T; Clayton, Kiera L KL; Raab, Monika M; Chen, Qiang Q; Beauchemin, Nicole N; Yazaki, Paul J PJ; Pyzik, Michal M; Ostrowski, Mario A MA; Glickman, Jonathan N JN; Rudd, Christopher E CE; Ploegh, Hidde L HL; Franke, Andre A; Petsko, Gregory A GA; Kuchroo, Vijay K VK; Blumberg, Richard S RS

Publication Date: 2015-01-15

Variant appearance in text: rs35960726

PubMed Link: 25363763

Variant Present in the following documents:

• Main text

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: HAVCR2: I97M; rs35960726

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.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: HAVCR2: I97M; rs35960726

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2014

Variant appearance in text: HAVCR2: I97M

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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TIM polymorphisms--genetics and function.

Genes And Immunity

Lee, J J; Phong, B B; Egloff, A M AM; Kane, L P LP

Publication Date: 2011-12

Variant appearance in text: rs35960726

PubMed Link: 22048452

Variant Present in the following documents:

• Main text

View BVdb publication page

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