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: rs2072100

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: TAC1: -9-132C>T; rs2072100

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

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Integration of Transcriptome and Epigenome to Identify and Develop Prognostic Markers for Ovarian Cancer.

Journal Of Oncology

Xu, Can C; Cao, Wei W

Publication Date: 2022

Variant appearance in text: rs2072100

PubMed Link: 36081667

Variant Present in the following documents:

• 3744466.f1.pdf

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: TAC1: -9-132C>T; rs2072100

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1
• CNR2-4-e1335-s003.xlsx, sheet 2

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: TAC1: -9-132C>T; rs2072100

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Perceived fatigue and energy are independent unipolar states: Supporting evidence.

Medical Hypotheses

Loy, Bryan D BD; Cameron, Michelle H MH; O'Connor, Patrick J PJ

Publication Date: 2018-04

Variant appearance in text: rs2072100

PubMed Link: 29523293

Variant Present in the following documents:

• Main text

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: rs2072100

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Associations Between Neurotransmitter Genes and Fatigue and Energy Levels in Women After Breast Cancer Surgery.

Journal Of Pain And Symptom Management

Eshragh, Jasmine J; Dhruva, Anand A; Paul, Steven M SM; Cooper, Bruce A BA; Mastick, Judy J; Hamolsky, Deborah D; Levine, Jon D JD; Miaskowski, Christine C; Kober, Kord M KM

Publication Date: 2017-01

Variant appearance in text: rs2072100

PubMed Link: 27720787

Variant Present in the following documents:

• Main text

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: rs2072100

PubMed Link: 26549847

Variant Present in the following documents:

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

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Genetic variants associated with development of TMD and its intermediate phenotypes: the genetic architecture of TMD in the OPPERA prospective cohort study.

The Journal Of Pain

Smith, Shad B SB; Mir, Ellen E; Bair, Eric E; Slade, Gary D GD; Dubner, Ronald R; Fillingim, Roger B RB; Greenspan, Joel D JD; Ohrbach, Richard R; Knott, Charles C; Weir, Bruce B; Maixner, William W; Diatchenko, Luda L

Publication Date: 2013-12

Variant appearance in text: rs2072100

PubMed Link: 24275226

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide gene-set analysis for identification of pathways associated with alcohol dependence.

The International Journal Of Neuropsychopharmacology

Biernacka, Joanna M JM; Geske, Jennifer J; Jenkins, Gregory D GD; Colby, Colin C; Rider, David N DN; Karpyak, Victor M VM; Choi, Doo-Sup DS; Fridley, Brooke L BL

Publication Date: 2013-03

Variant appearance in text: rs2072100

PubMed Link: 22717047

Variant Present in the following documents:

• Main text

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Potential genetic risk factors for chronic TMD: genetic associations from the OPPERA case control study.

The Journal Of Pain

Smith, Shad B SB; Maixner, Dylan W DW; Greenspan, Joel D JD; Dubner, Ronald R; Fillingim, Roger B RB; Ohrbach, Richard R; Knott, Charles C; Slade, Gary D GD; Bair, Eric E; Gibson, Dustin G DG; Zaykin, Dmitri V DV; Weir, Bruce S BS; Maixner, William W; Diatchenko, Luda L

Publication Date: 2011-11

Variant appearance in text: rs2072100

PubMed Link: 22074755

Variant Present in the following documents:

• Main text

View BVdb publication page

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