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: rs1558544

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs1558544

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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: rs1558544

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs1558544

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 3

View BVdb publication page

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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: rs1558544

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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GOG 8020/210: Risk stratification of lymph node metastasis, disease progression and survival using single nucleotide polymorphisms in endometrial cancer: An NRG oncology/gynecologic oncology group study.

Gynecologic Oncology

Brooks, Rebecca A RA; Tritchler, David S DS; Darcy, Kathleen M KM; Lankes, Heather A HA; Salani, Ritu R; Sperduto, Paul P; Guntupalli, Saketh S; DiSilvestro, Paul P; Kesterson, Joshua J; Olawaiye, Alexander B AB; Moxley, Katherine K; Waggoner, Steven S; Santin, Alessandro A; Rader, Janet S JS; Kizer, Nora T NT; Thaker, Premal H PH; Powell, Matthew A MA; Mutch, David G DG; Birrer, Michael J MJ; Goodfellow, Paul J PJ

Publication Date: 2019-05

Variant appearance in text: rs1558544

PubMed Link: 30827726

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combining genomic analyses with tumour-derived slice cultures for the characterization of an EGFR-activating kinase mutation in a case of glioblastoma.

Bmc Cancer

Loriguet, Lea L; Morisse, Mony Chenda MC; Dremaux, Julie J; Collet, Louison L; Attencourt, Christophe C; Coutte, Alexandre A; Boone, Mathieu M; Sevestre, Henri H; Galmiche, Antoine A; Gubler, Brigitte B; Chauffert, Bruno B; Trudel, Stephanie S

Publication Date: 2018-10-11

Variant appearance in text: rs1558544

PubMed Link: 30305059

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4873.pdf

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1558544

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1558544

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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ATM mutations and E-cadherin expression define sensitivity to EGFR-targeted therapy in colorectal cancer.

Oncotarget

Geißler, Anna-Lena AL; Geißler, Miriam M; Kottmann, Daniel D; Lutz, Lisa L; Fichter, Christiane D CD; Fritsch, Ralph R; Weddeling, Britta B; Makowiec, Frank F; Werner, Martin M; Lassmann, Silke S

Publication Date: 2017-03-07

Variant appearance in text: rs1558544

PubMed Link: 28199979

Variant Present in the following documents:

• Main text
• oncotarget-08-17164.pdf

View BVdb publication page

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Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples.

Bmc Cancer

Bonfiglio, Silvia S; Vanni, Irene I; Rossella, Valeria V; Truini, Anna A; Lazarevic, Dejan D; Dal Bello, Maria Giovanna MG; Alama, Angela A; Mora, Marco M; Rijavec, Erika E; Genova, Carlo C; Cittaro, Davide D; Grossi, Francesco F; Coco, Simona S

Publication Date: 2016-08-30

Variant appearance in text: rs1558544

PubMed Link: 27578032

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2720.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs1558544

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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MITF Modulates Therapeutic Resistance through EGFR Signaling.

The Journal Of Investigative Dermatology

Ji, Zhenyu Z; Erin Chen, Yiyin Y; Kumar, Raj R; Taylor, Michael M; Jenny Njauw, Ching-Ni CN; Miao, Benchun B; Frederick, Dennie T DT; Wargo, Jennifer A JA; Flaherty, Keith T KT; Jönsson, Göran G; Tsao, Hensin H

Publication Date: 2015-07

Variant appearance in text: rs1558544

PubMed Link: 25789707

Variant Present in the following documents:

• NIHMS670893-supplement-01.pdf

View BVdb publication page

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Epidermal growth factor receptor (EGFR) polymorphisms and breast cancer among Hispanic and non-Hispanic white women: the Breast Cancer Health Disparities Study.

International Journal Of Molecular Epidemiology And Genetics

Connor, Avonne E AE; Baumgartner, Richard N RN; Baumgartner, Kathy B KB; Pinkston, Christina M CM; John, Esther M EM; Torres-Mejía, Gabriela G; Hines, Lisa M LM; Giuliano, Anna R AR; Wolff, Roger K RK; Slattery, Martha L ML

Publication Date: 2013

Variant appearance in text: rs1558544

PubMed Link: 24319539

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations with growth factor genes (FGF1, FGF2, PDGFB, FGFR2, NRG2, EGF, ERBB2) with breast cancer risk and survival: the Breast Cancer Health Disparities Study.

Breast Cancer Research And Treatment

Slattery, Martha L ML; John, Esther M EM; Stern, Mariana C MC; Herrick, Jennifer J; Lundgreen, Abbie A; Giuliano, Anna R AR; Hines, Lisa L; Baumgartner, Kathy B KB; Torres-Mejia, Gabriela G; Wolff, Roger K RK

Publication Date: 2013-08

Variant appearance in text: rs1558544

PubMed Link: 23912956

Variant Present in the following documents:

• Main text

View BVdb publication page

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