Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs6122720

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2022-10-14

Variant appearance in text: PREX1: R169R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Functional dissection of inherited non-coding variation influencing multiple myeloma risk.

Nature Communications

Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B

Publication Date: 2022-01-10

Variant appearance in text: rs6122720

PubMed Link: 35013207

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27666.pdf

View BVdb publication page

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Functional dissection of inherited non-coding variation influencing multiple myeloma risk.

Nature Communications

Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B

Publication Date: 2022-01-10

Variant appearance in text: rs6122720

PubMed Link: 35013207

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27666.pdf

View BVdb publication page

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Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.

Nature Communications

Lin, Jianzhen J; Peng, Xinxin X; Dong, Kun K; Long, Junyu J; Guo, Xuejiao X; Li, Hongyue H; Bai, Yi Y; Yang, Xu X; Wang, Dongxu D; Lu, Xin X; Mao, Yilei Y; Sang, Xinting X; Ji, Xuwo X; Zhao, Haitao H; Liang, Han H

Publication Date: 2021-08-06

Variant appearance in text: PREX1: R169R

PubMed Link: 34362903

Variant Present in the following documents:

• 41467_2021_25012_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: PREX1: R169R; rs6122720

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: PREX1: 507C>T; R169R; rs6122720

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: PREX1: R169R; rs6122720

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: PREX1: 507C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: PREX1: R169R; rs6122720

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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: PREX1: R169R; rs6122720

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: PREX1: R169R; rs6122720

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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