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: IRS1: G818R

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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Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.

Plos One

Goto, Kosuke K; Mineta, Katsuhiko K; Miyazaki, Satoru S; Gojobori, Takashi T

Publication Date: 2021

Variant appearance in text: IRS1: 2452G>C; Gly818Arg; rs41265094

PubMed Link: 33848288

Variant Present in the following documents:

• Main text
• pone.0249226.pdf

View BVdb publication page

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The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.

Communications Biology

Pei, Yu-Fang YF; Liu, Yao-Zhong YZ; Yang, Xiao-Lin XL; Zhang, Hong H; Feng, Gui-Juan GJ; Wei, Xin-Tong XT; Zhang, Lei L

Publication Date: 2020-10-23

Variant appearance in text: rs41265094

PubMed Link: 33097823

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1334.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: IRS1: 2452G>C; Gly818Arg; rs41265094

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: IRS1: G818R; rs41265094

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: IRS1: G818R; rs41265094

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 3
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4

View BVdb publication page

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iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Cell Death & Disease

Melguizo-Sanchis, Dario D; Xu, Yaobo Y; Taheem, Dheraj D; Yu, Min M; Tilgner, Katarzyna K; Barta, Tomas T; Gassner, Katja K; Anyfantis, George G; Wan, Tengfei T; Elango, Ramu R; Alharthi, Sameer S; El-Harouni, Ashraf A AA; Przyborski, Stefan S; Adam, Soheir S; Saretzki, Gabriele G; Samarasinghe, Sujith S; Armstrong, Lyle L; Lako, Majlinda M

Publication Date: 2018-01-26

Variant appearance in text: IRS1: G818R; rs41265094

PubMed Link: 29374141

Variant Present in the following documents:

• 41419_2017_141_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs41265094

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: IRS1: G818R

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer.

Oncology Reports

Esposito, Diana Liberata DL; Verginelli, Fabio F; Toracchio, Sonia S; Mammarella, Sandra S; De Lellis, Laura L; Vanni, Cinzia C; Russo, Antonio A; Mariani-Costantini, Renato R; Cama, Alessandro A

Publication Date: 2013-10

Variant appearance in text: IRS1: 2452G>C; Gly818Arg

PubMed Link: 23877285

Variant Present in the following documents:

• or-30-04-1553.pdf

View BVdb publication page

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