Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: IGF1R: R437H

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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The landscape of aging.

Science China. Life Sciences

Cai, Yusheng Y; Song, Wei W; Li, Jiaming J; Jing, Ying Y; Liang, Chuqian C; Zhang, Liyuan L; Zhang, Xia X; Zhang, Wenhui W; Liu, Beibei B; An, Yongpan Y; Li, Jingyi J; Tang, Baixue B; Pei, Siyu S; Wu, Xueying X; Liu, Yuxuan Y; Zhuang, Cheng-Le CL; Ying, Yilin Y; Dou, Xuefeng X; Chen, Yu Y; Xiao, Fu-Hui FH; Li, Dingfeng D; Yang, Ruici R; Zhao, Ya Y; Wang, Yang Y; Wang, Lihui L; Li, Yujing Y; Ma, Shuai S; Wang, Si S; Song, Xiaoyuan X; Ren, Jie J; Zhang, Liang L; Wang, Jun J; Zhang, Weiqi W; Xie, Zhengwei Z; Qu, Jing J; Wang, Jianwei J; Xiao, Yichuan Y; Tian, Ye Y; Wang, Gelin G; Hu, Ping P; Ye, Jing J; Sun, Yu Y; Mao, Zhiyong Z; Kong, Qing-Peng QP; Liu, Qiang Q; Zou, Weiguo W; Tian, Xiao-Li XL; Xiao, Zhi-Xiong ZX; Liu, Yong Y; Liu, Jun-Ping JP; Song, Moshi M; Han, Jing-Dong J JJ; Liu, Guang-Hui GH

Publication Date: 2022-12

Variant appearance in text: rs34516635

PubMed Link: 36066811

Variant Present in the following documents:

• 11427_2022_Article_2161.pdf

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: IGF1R: R437H

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief

Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G

Publication Date: 2021-02

Variant appearance in text: IGF1R: 1310G>A; Arg437His; rs34516635

PubMed Link: 33365374

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: rs34516635

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

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: IGF1R: 1310G>A; Arg437His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics

,

Publication Date: 2018-11-27

Variant appearance in text: rs34516635

PubMed Link: 30482208

Variant Present in the following documents:

• 12920_2018_423_MOESM1_ESM.pdf

View BVdb publication page

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Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

The Journal Of Pathology. Clinical Research

Kutasovic, Jamie R JR; McCart Reed, Amy E AE; Males, Renique R; Sim, Sarah S; Saunus, Jodi M JM; Dalley, Andrew A; McEvoy, Christopher R CR; Dedina, Liana L; Miller, Gregory G; Peyton, Stephen S; Reid, Lynne L; Lal, Samir S; Niland, Colleen C; Ferguson, Kaltin K; Fellowes, Andrew P AP; Al-Ejeh, Fares F; Lakhani, Sunil R SR; Cummings, Margaret C MC; Simpson, Peter T PT

Publication Date: 2019-01

Variant appearance in text: IGF1R: 1310G>A; Arg437His; rs34516635

PubMed Link: 30246500

Variant Present in the following documents:

• CJP2-5-25-s002.xlsx, sheet 11

View BVdb publication page

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Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.

The Journal Of Biological Chemistry

Rotwein, Peter P

Publication Date: 2017-06-02

Variant appearance in text: IGF1R: R437H

PubMed Link: 28389567

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: IGF1R: 1310G>A; Arg437His

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: IGF1R: 1310G>A; R437H; rs34516635

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Sequencing of a Healthy Aging Cohort.

Cell

Erikson, Galina A GA; Bodian, Dale L DL; Rueda, Manuel M; Molparia, Bhuvan B; Scott, Erick R ER; Scott-Van Zeeland, Ashley A AA; Topol, Sarah E SE; Wineinger, Nathan E NE; Niederhuber, John E JE; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2016-05-05

Variant appearance in text: rs34516635

PubMed Link: 27114037

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: IGF1R: R437H; rs34516635

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: IGF1R: R437H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: IGF1R: 1310G>A; R437H; rs34516635

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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Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Genes & Genomics

Sosonkina, Nadiya N; Hong, Seung-Keun SK; Starenki, Dmytro D; Park, Jong-In JI

Publication Date: 2014-12

Variant appearance in text: IGF1R: R437H; rs34516635

PubMed Link: 25530832

Variant Present in the following documents:

• Main text

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: IGF1R: R437H; rs34516635

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: rs34516635

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 13

View BVdb publication page

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Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.

The Journal Of Clinical Endocrinology And Metabolism

Wang, Sophie R SR; Carmichael, Heather H; Andrew, Shayne F SF; Miller, Timothy C TC; Moon, Jennifer E JE; Derr, Michael A MA; Hwa, Vivian V; Hirschhorn, Joel N JN; Dauber, Andrew A

Publication Date: 2013-08

Variant appearance in text: IGF1R: 1310G>A

PubMed Link: 23771920

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequences of a male and female supercentenarian, ages greater than 114 years.

Frontiers In Genetics

Sebastiani, Paola P; Riva, Alberto A; Montano, Monty M; Pham, Phillip P; Torkamani, Ali A; Scherba, Eugene E; Benson, Gary G; Milton, Jacqueline N JN; Baldwin, Clinton T CT; Andersen, Stacy S; Schork, Nicholas J NJ; Steinberg, Martin H MH; Perls, Thomas T TT

Publication Date: 2011

Variant appearance in text: rs34516635

PubMed Link: 22303384

Variant Present in the following documents:

• Main text
• fgene-02-00090.pdf

View BVdb publication page

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A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene.

Journal Of Biomedicine & Biotechnology

de Alencar, S A SA; Lopes, Julio C D JC

Publication Date: 2010

Variant appearance in text: rs34516635

PubMed Link: 20625407

Variant Present in the following documents:

• Main text
• JBB2010-715139.pdf

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: IGF1R: R437H; rs34516635

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 3
• gkn1008_nar-01723-s-2008-File009.xls, sheet 3

View BVdb publication page

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