Publications:

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Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.

Genome Medicine

Xin, Junyi J; Du, Mulong M; Gu, Dongying D; Jiang, Kewei K; Wang, Mengyun M; Jin, Mingjuan M; Hu, Yeting Y; Ben, Shuai S; Chen, Silu S; Shao, Wei W; Li, Shuwei S; Chu, Haiyan H; Zhu, Linjun L; Li, Chen C; Chen, Kun K; Ding, Kefeng K; Zhang, Zhengdong Z; Shen, Hongbing H; Wang, Meilin M

Publication Date: 2023-01-24

Variant appearance in text: rs2241714

PubMed Link: 36694225

Variant Present in the following documents:

• 13073_2023_1156_MOESM1_ESM.pdf

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2241714

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: rs2241714

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: B9D2: 33A>G; Ile11Met; rs2241714

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.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: B9D2: I11M

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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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: B9D2: I11M; rs2241714

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

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

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Arnau-Collell, Coral C; Díez-Villanueva, Anna A; Bellosillo, Beatriz B; Augé, Josep M JM; Muñoz, Jenifer J; Guinó, Elisabet E; Moreira, Leticia L; Serradesanferm, Anna A; Pozo, Àngels À; Torà-Rocamora, Isabel I; Bonjoch, Laia L; Ibañez-Sanz, Gemma G; Obon-Santacana, Mireia M; Moratalla-Navarro, Ferran F; Sanz-Pamplona, Rebeca R; Márquez Márquez, Carmen C; Rueda Miret, Rebeca R; Pérez Berbegal, Rocio R; Piquer Velasco, Gabriel G; Hernández Rodríguez, Cristina C; Grau, Jaume J; Castells, Antoni A; Borràs, Josep M JM; Bessa, Xavier X; Moreno, Victor V; Castellví-Bel, Sergi S

Publication Date: 2022-07-01

Variant appearance in text: rs2241714

PubMed Link: 35511747

Variant Present in the following documents:

• Main text
• 1305.pdf

View BVdb publication page

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Coding and regulatory variants are associated with serum protein levels and disease.

Nature Communications

Emilsson, Valur V; Gudmundsdottir, Valborg V; Gudjonsson, Alexander A; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Karim, Mohd A MA; Ilkov, Marjan M; Staley, James R JR; Gudmundsson, Elias F EF; Launer, Lenore J LJ; Lindeman, Jan H JH; Morton, Nicholas M NM; Aspelund, Thor T; Lamb, John R JR; Jennings, Lori L LL; Gudnason, Vilmundur V

Publication Date: 2022-01-25

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 35079000

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28081.pdf

View BVdb publication page

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Coding and regulatory variants are associated with serum protein levels and disease.

Nature Communications

Emilsson, Valur V; Gudmundsdottir, Valborg V; Gudjonsson, Alexander A; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Karim, Mohd A MA; Ilkov, Marjan M; Staley, James R JR; Gudmundsson, Elias F EF; Launer, Lenore J LJ; Lindeman, Jan H JH; Morton, Nicholas M NM; Aspelund, Thor T; Lamb, John R JR; Jennings, Lori L LL; Gudnason, Vilmundur V

Publication Date: 2022-01-25

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 35079000

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28081.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: B9D2: I11M

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Repurposing non-invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome.

Oncology Letters

Forgacova, Natalia N; Gazdarica, Juraj J; Budis, Jaroslav J; Radvanszky, Jan J; Szemes, Tomas T

Publication Date: 2021-11

Variant appearance in text: rs2241714

PubMed Link: 34594420

Variant Present in the following documents:

• Main text
• ol-22-05-13040.pdf

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: B9D2: I11M; rs2241714

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: B9D2: 33A>G; I11M; rs2241714

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2

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: B9D2: I11M; rs2241714

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 5
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Impact of Gene-Environment Interactions on Cancer Development.

International Journal Of Environmental Research And Public Health

Mbemi, Ariane A; Khanna, Sunali S; Njiki, Sylvianne S; Yedjou, Clement G CG; Tchounwou, Paul B PB

Publication Date: 2020-11-03

Variant appearance in text: rs2241714

PubMed Link: 33153024

Variant Present in the following documents:

• Main text
• ijerph-17-08089.pdf

View BVdb publication page

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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: B9D2: I11M; rs2241714

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2241714

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.

Journal Of Medical Genetics

Arnau-Collell, Coral C; Soares de Lima, Yasmin Y; Díaz-Gay, Marcos M; Muñoz, Jenifer J; Carballal, Sabela S; Bonjoch, Laia L; Moreira, Leticia L; Lozano, Juan José JJ; Ocaña, Teresa T; Cuatrecasas, Miriam M; Díaz de Bustamante, Aranzazu A; Castells, Antoni A; Capellà, Gabriel G; Bujanda, Luis L; Cubiella, Joaquin J; Rodríguez-Alcalde, Daniel D; Balaguer, Francesc F; Ruiz-Ponte, Clara C; Valle, Laura L; Moreno, Victor V; Castellvi-Bel, Sergi S

Publication Date: 2020-10

Variant appearance in text: rs2241714

PubMed Link: 32170005

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106374.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: B9D2: I11M

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluation of gene-environment interactions for colorectal cancer susceptibility loci using case-only and case-control designs.

Bmc Cancer

Song, Nan N; Lee, Jeeyoo J; Cho, Sooyoung S; Kim, Jeongseon J; Oh, Jae Hwan JH; Shin, Aesun A

Publication Date: 2019-12-18

Variant appearance in text: rs2241714

PubMed Link: 31849324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single nucleotide polymorphisms associated with susceptibility for development of colorectal cancer: Case-control study in a Basque population.

Plos One

Alegria-Lertxundi, Iker I; Aguirre, Carmelo C; Bujanda, Luis L; Fernández, Francisco Javier FJ; Polo, Francisco F; Ordovás, José M JM; Etxezarraga, M Carmen MC; Zabalza, Iñaki I; Larzabal, Mikel M; Portillo, Isabel I; de Pancorbo, Marian M MM; Palencia-Madrid, Leire L; Rocandio, Ana M AM; Arroyo-Izaga, Marta M

Publication Date: 2019

Variant appearance in text: rs2241714

PubMed Link: 31821333

Variant Present in the following documents:

• Main text
• pone.0225779.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: B9D2: 33A>G; Ile11Met; rs2241714

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.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: B9D2: I11M; rs2241714

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: B9D2: 33A>G; Ile11Met

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: B9D2: 33A>G; rs2241714

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: B9D2: 33A>G; I11M; rs2241714

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research

Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP

Publication Date: 2018-04

Variant appearance in text: B9D2: I11M; rs2241714

PubMed Link: 29567674

Variant Present in the following documents:

• supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1

View BVdb publication page

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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics

Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,

Publication Date: 2018-03-06

Variant appearance in text: B9D2: 33A>G; Ile11Met; rs2241714

PubMed Link: 29510755

Variant Present in the following documents:

• 12920_2018_338_MOESM6_ESM.xlsx, sheet 3

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Effects of interactions between common genetic variants and alcohol consumption on colorectal cancer risk.

Oncotarget

Song, Nan N; Shin, Aesun A; Oh, Jae Hwan JH; Kim, Jeongseon J

Publication Date: 2018-01-19

Variant appearance in text: rs2241714

PubMed Link: 29464080

Variant Present in the following documents:

• Main text
• oncotarget-09-6391.pdf

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Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

Oncotarget

Hofer, Philipp P; Hagmann, Michael M; Brezina, Stefanie S; Dolejsi, Erich E; Mach, Karl K; Leeb, Gernot G; Baierl, Andreas A; Buch, Stephan S; Sutterlüty-Fall, Hedwig H; Karner-Hanusch, Judith J; Bergmann, Michael M MM; Bachleitner-Hofmann, Thomas T; Stift, Anton A; Gerger, Armin A; Rötzer, Katharina K; Karner, Josef J; Stättner, Stefan S; Waldenberger, Melanie M; Meitinger, Thomas T; Strauch, Konstantin K; Linseisen, Jakob J; Gieger, Christian C; Frommlet, Florian F; Gsur, Andrea A

Publication Date: 2017-11-17

Variant appearance in text: rs2241714

PubMed Link: 29228715

Variant Present in the following documents:

• Main text

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A genetic variant in SLC28A3, rs56350726, is associated with progression to castration-resistant prostate cancer in a Korean population with metastatic prostate cancer.

Oncotarget

Jo, Jung Ki JK; Oh, Jong Jin JJ; Kim, Yong Tae YT; Moon, Hong Sang HS; Choi, Hong Yong HY; Park, Seunghyun S; Ho, Jin-Nyoung JN; Yoon, Sungroh S; Park, Hae Young HY; Byun, Seok-Soo SS

Publication Date: 2017-11-14

Variant appearance in text: rs2241714

PubMed Link: 29228579

Variant Present in the following documents:

• Main text
• oncotarget-08-96893.pdf

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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: B9D2: I11M; rs2241714

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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Japanese genome-wide association study identifies a significant colorectal cancer susceptibility locus at chromosome 10p14.

Cancer Science

Takahashi, Yusuke Y; Sugimachi, Keishi K; Yamamoto, Ken K; Niida, Atsushi A; Shimamura, Teppei T; Sato, Tetsuya T; Watanabe, Masahiko M; Tanaka, Junichi J; Kudo, Shinei S; Sugihara, Kenichi K; Hase, Kazuo K; Kusunoki, Masato M; Yamada, Kazutaka K; Shimada, Yasuhiro Y; Moriya, Yoshihiro Y; Suzuki, Yutaka Y; Miyano, Satoru S; Mori, Masaki M; Mimori, Koshi K

Publication Date: 2017-11

Variant appearance in text: rs2241714

PubMed Link: 28869801

Variant Present in the following documents:

• Main text
• CAS-108-2239.pdf

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