Publications:

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Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Genes

Maaziz, Nada N; Garrec, Céline C; Airaud, Fabrice F; Bobée, Victor V; Contentin, Nathalie N; Cayssials, Emilie E; Rimbert, Antoine A; Aral, Bernard B; Bézieau, Stéphane S; Gardie, Betty B; Girodon, François F

Publication Date: 2023-05-11

Variant appearance in text: rs1049481

PubMed Link: 37239426

Variant Present in the following documents:

• Main text
• genes-14-01066.pdf

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Pharmacogenetics Role of Genetic Variants in Immune-Related Factors: A Systematic Review Focusing on mCRC.

Pharmaceutics

Scarabel, Lucia L; Bignucolo, Alessia A; Toffoli, Giuseppe G; Cecchin, Erika E; De Mattia, Elena E

Publication Date: 2022-11-15

Variant appearance in text: rs1049481

PubMed Link: 36432658

Variant Present in the following documents:

• Main text
• pharmaceutics-14-02468.pdf

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs1049481

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs1049481

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis.

Experimental Hematology & Oncology

Zagaria, Antonella A; Tarantini, Francesco F; Orsini, Paola P; Anelli, Luisa L; Cumbo, Cosimo C; Coccaro, Nicoletta N; Tota, Giuseppina G; Minervini, Crescenzio Francesco CF; Parciante, Elisa E; Conserva, Maria Rosa MR; Redavid, Immacolata I; Ricco, Alessandra A; Attolico, Immacolata I; Specchia, Giorgina G; Musto, Pellegrino P; Albano, Francesco F

Publication Date: 2022-08-28

Variant appearance in text: rs1049481

PubMed Link: 36031623

Variant Present in the following documents:

• Main text
• 40164_2022_301_MOESM3_ESM.xlsx, sheet 1
• 40164_2022_Article_301.pdf

View BVdb publication page

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Second Cancer Onset in Myeloproliferative Neoplasms: What, When, Why?

International Journal Of Molecular Sciences

Cumbo, Cosimo C; Anelli, Luisa L; Zagaria, Antonella A; Coccaro, Nicoletta N; Tarantini, Francesco F; Specchia, Giorgina G; Musto, Pellegrino P; Albano, Francesco F

Publication Date: 2022-03-15

Variant appearance in text: rs1049481

PubMed Link: 35328597

Variant Present in the following documents:

• Main text
• ijms-23-03177.pdf

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TIGER: The gene expression regulatory variation landscape of human pancreatic islets.

Cell Reports

Alonso, Lorena L; Piron, Anthony A; Morán, Ignasi I; Guindo-Martínez, Marta M; Bonàs-Guarch, Sílvia S; Atla, Goutham G; Miguel-Escalada, Irene I; Royo, Romina R; Puiggròs, Montserrat M; Garcia-Hurtado, Xavier X; Suleiman, Mara M; Marselli, Lorella L; Esguerra, Jonathan L S JLS; Turatsinze, Jean-Valéry JV; Torres, Jason M JM; Nylander, Vibe V; Chen, Ji J; Eliasson, Lena L; Defrance, Matthieu M; Amela, Ramon R; , ; Mulder, Hindrik H; Gloyn, Anna L AL; Groop, Leif L; Marchetti, Piero P; Eizirik, Decio L DL; Ferrer, Jorge J; Mercader, Josep M JM; Cnop, Miriam M; Torrents, David D

Publication Date: 2021-10-12

Variant appearance in text: rs1049481

PubMed Link: 34644572

Variant Present in the following documents:

• nihms-1747907.pdf

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs1049481

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: rs1049481

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Human Molecular Genetics

Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH

Publication Date: 2021-01-06

Variant appearance in text: rs1049481

PubMed Link: 33410475

Variant Present in the following documents:

• hmg-2020-ez-00182_law_supplementary_table_clean_ddaa222.xlsx, sheet 1

View BVdb publication page

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Immunogenic cell death pathway polymorphisms for predicting oxaliplatin efficacy in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer

Arai, Hiroyuki H; Xiao, Yi Y; Loupakis, Fotios F; Kawanishi, Natsuko N; Wang, Jingyuan J; Battaglin, Francesca F; Soni, Shivani S; Zhang, Wu W; Mancao, Christoph C; Salhia, Bodour B; Mumenthaler, Shannon M SM; Weisenberger, Daniel J DJ; Liang, Gangning G; Cremolini, Chiara C; Falcone, Alfredo A; Millstein, Joshua J; Lenz, Heinz-Josef HJ

Publication Date: 2020-11

Variant appearance in text: rs1049481

PubMed Link: 33172883

Variant Present in the following documents:

• Main text
• jitc-2020-001714.pdf

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs1049481

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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Targeting specificity of APOBEC-based cytosine base editor in human iPSCs determined by whole genome sequencing.

Nature Communications

McGrath, Erica E; Shin, Hyunsu H; Zhang, Linyi L; Phue, Je-Nie JN; Wu, Wells W WW; Shen, Rong-Fong RF; Jang, Yoon-Young YY; Revollo, Javier J; Ye, Zhaohui Z

Publication Date: 2019-11-25

Variant appearance in text: rs1049481

PubMed Link: 31767844

Variant Present in the following documents:

• 41467_2019_13342_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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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: rs1049481

PubMed Link: 30319441

Variant Present in the following documents:

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

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs1049481

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Molecular Cytogenetics

Smetana, Jan J; Oppelt, Jan J; Štork, Martin M; Pour, Luděk L; Kuglík, Petr P

Publication Date: 2018

Variant appearance in text: rs1049481

PubMed Link: 29375670

Variant Present in the following documents:

• 13039_2018_357_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs1049481

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

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Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival.

Molecular Carcinogenesis

Xu, Yinghui Y; Wang, Yanru Y; Liu, Hongliang H; Shi, Qiong Q; Zhu, Dakai D; Amos, Christopher I CI; Fang, Shenying S; Lee, Jeffrey E JE; Hyslop, Terry T; Li, Xin X; Han, Jiali J; Wei, Qingyi Q

Publication Date: 2018-01

Variant appearance in text: rs1049481

PubMed Link: 28796414

Variant Present in the following documents:

• Main text

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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: rs1049481

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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Sequential evaluation of CALR mutant burden in patients with myeloproliferative neoplasms.

Oncotarget

Cavalloni, Chiara C; Rumi, Elisa E; Ferretti, Virginia V VV; Pietra, Daniela D; Roncoroni, Elisa E; Bellini, Marta M; Ciboddo, Michele M; Casetti, Ilaria C IC; Landini, Benedetta B; Fugazza, Elena E; Troletti, Daniela D; Astori, Cesare C; Cazzola, Mario M

Publication Date: 2017-05-16

Variant appearance in text: rs1049481

PubMed Link: 28422716

Variant Present in the following documents:

• Main text
• oncotarget-08-33416.pdf

View BVdb publication page

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Melanoma Expression Genes Identified through Genome-Wide Association Study of Breslow Tumor Thickness.

The Journal Of Investigative Dermatology

Fang, Shenying S; Vaysse, Amaury A; Brossard, Myriam M; Wang, Yuling Y; Deng, Defeng D; Liu, Quan Q; Zhang, Peter P; Xu, Kejing K; Li, Ming M; Feng, Runhua R; Liu, Huey H; Dang, Yifang Y; Chen, Wei W; Prieto, Victor V; Gershenwald, Jeffrey E JE; Ross, Merrick I MI; Matejka, Brenna B; Malke, Jared J; Haydu, Lauren E LE; Reveille, John D JD; Sui, Dawen D; Bassett, Roland L RL; Koshkina, Nadya N; Avril, Marie Françoise MF; Lu, Mason M; Wei, Qingyi Q; Demenais, Florence F; Amos, Christopher I CI; Lee, Jeffrey E JE

Publication Date: 2017-01

Variant appearance in text: rs1049481

PubMed Link: 27506587

Variant Present in the following documents:

• Main text

View BVdb publication page

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Allelic imbalance in CALR somatic mutagenesis.

Leukemia

Harutyunyan, A S AS; Jäger, R R; Chen, D D; Berg, T T; Rumi, E E; Gisslinger, B B; Pietra, D D; Gisslinger, H H; Cazzola, M M; Kralovics, R R

Publication Date: 2015-06

Variant appearance in text: rs1049481

PubMed Link: 25567134

Variant Present in the following documents:

• Main text
• leu20153a.pdf

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs1049481

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Genetic architecture of microRNA expression: implications for the transcriptome and complex traits.

American Journal Of Human Genetics

Gamazon, Eric R ER; Ziliak, Dana D; Im, Hae Kyung HK; LaCroix, Bonnie B; Park, Danny S DS; Cox, Nancy J NJ; Huang, R Stephanie RS

Publication Date: 2012-06-08

Variant appearance in text: rs1049481

PubMed Link: 22658545

Variant Present in the following documents:

• Main text

View BVdb publication page

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