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: INSR: F669F; rs2962

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: INSR: F669F

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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Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine

Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T

Publication Date: 2021-11-08

Variant appearance in text: INSR: F669F

PubMed Link: 34749812

Variant Present in the following documents:

• 13073_2021_975_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions.

Molecular Oncology

Ottaiano, Alessandro A; Circelli, Luisa L; Santorsola, Mariachiara M; Savarese, Giovanni G; Fontanella, Daniela D; Gigantino, Valerio V; Di Mauro, Annabella A; Capuozzo, Maurizio M; Zappavigna, Silvia S; Lombardi, Angela A; Perri, Francesco F; Cascella, Marco M; Granata, Vincenza V; Capuozzo, Maurizio M; Nasti, Guglielmo G; Caraglia, Michele M

Publication Date: 2021-10-20

Variant appearance in text: INSR: 2007C>T; rs2962

PubMed Link: 34668636

Variant Present in the following documents:

• Main text
• MOL2-16-319.pdf

View BVdb publication page

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Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions.

Molecular Oncology

Ottaiano, Alessandro A; Circelli, Luisa L; Santorsola, Mariachiara M; Savarese, Giovanni G; Fontanella, Daniela D; Gigantino, Valerio V; Di Mauro, Annabella A; Capuozzo, Maurizio M; Zappavigna, Silvia S; Lombardi, Angela A; Perri, Francesco F; Cascella, Marco M; Granata, Vincenza V; Capuozzo, Maurizio M; Nasti, Guglielmo G; Caraglia, Michele M

Publication Date: 2022-01

Variant appearance in text: INSR: 2007C>T; rs2962

PubMed Link: 34668636

Variant Present in the following documents:

• Main text
• MOL2-16-319.pdf

View BVdb publication page

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The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis.

Journal Of Ovarian Research

Chaudhary, Hiral H; Patel, Jalpa J; Jain, Nayan K NK; Joshi, Rushikesh R

Publication Date: 2021-09-26

Variant appearance in text: rs2962

PubMed Link: 34563259

Variant Present in the following documents:

• Main text
• 13048_2021_Article_879.pdf

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: INSR: 2007C>T; F669F; rs2962

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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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: INSR: 2007C>T; Phe669=; rs2962

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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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: rs2962

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Whole Exome Sequencing in Atrial Fibrillation.

Plos Genetics

Lubitz, Steven A SA; Brody, Jennifer A JA; Bihlmeyer, Nathan A NA; Roselli, Carolina C; Weng, Lu-Chen LC; Christophersen, Ingrid E IE; Alonso, Alvaro A; Boerwinkle, Eric E; Gibbs, Richard A RA; Bis, Joshua C JC; , ; Cupples, L Adrienne LA; Mohler, Peter J PJ; Nickerson, Deborah A DA; Muzny, Donna D; Perez, Marco V MV; Psaty, Bruce M BM; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Lunetta, Kathryn L KL; Benjamin, Emelia J EJ; Heckbert, Susan R SR; Arking, Dan E DE; Ellinor, Patrick T PT; Lin, Honghuang H

Publication Date: 2016-09

Variant appearance in text: rs2962

PubMed Link: 27589061

Variant Present in the following documents:

• Main text
• pgen.1006284.pdf

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: INSR: F669F; rs2962

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 2

View BVdb publication page

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The association between polymorphism of INSR and polycystic ovary syndrome: a meta-analysis.

International Journal Of Molecular Sciences

Feng, Chun C; Lv, Ping-Ping PP; Yu, Tian-Tian TT; Jin, Min M; Shen, Jin-Ming JM; Wang, Xue X; Zhou, Feng F; Jiang, Shi-Wen SW

Publication Date: 2015-01-22

Variant appearance in text: rs2962

PubMed Link: 25622255

Variant Present in the following documents:

• Main text
• ijms-16-02403.pdf

View BVdb publication page

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Functional genomics of PCOS: from GWAS to molecular mechanisms.

Trends In Endocrinology And Metabolism: Tem

McAllister, Jan M JM; Legro, Richard S RS; Modi, Bhavi P BP; Strauss, Jerome F JF

Publication Date: 2015-03

Variant appearance in text: rs2962

PubMed Link: 25600292

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: INSR: 2007C>T; F669F; rs2962

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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: INSR: F669F; rs2962

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: INSR: F669F

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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Racial differences in the association of insulin-like growth factor pathway and colorectal adenoma risk.

Cancer Causes & Control : Ccc

Ochs-Balcom, Heather M HM; Vaughn, Caila B CB; Nie, Jing J; Chen, Zhengyi Z; Thompson, Cheryl L CL; Parekh, Niyati N; Tracy, Russell R; Li, Li L

Publication Date: 2014-02

Variant appearance in text: rs2962

PubMed Link: 24194259

Variant Present in the following documents:

• Main text

View BVdb publication page

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