Publications:

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: IGFBP5: R138W

PubMed Link: 36652909

Variant Present in the following documents:

• mmc4.xlsx, sheet 7

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: IGFBP5: Arg138Trp; rs11575194

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

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Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.

Human Molecular Genetics

Bartell, Eric E; Fujimoto, Masanobu M; Khoury, Jane C JC; Khoury, Philip R PR; Vedantam, Sailaja S; Astley, Christina M CM; Hirschhorn, Joel N JN; Dauber, Andrew A

Publication Date: 2020-08-29

Variant appearance in text: rs11575194

PubMed Link: 32484228

Variant Present in the following documents:

• Main text

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A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Annals Of The Rheumatic Diseases

Budu-Aggrey, Ashley A; Bowes, John J; Stuart, Philip E PE; Zawistowski, Matthew M; Tsoi, Lam C LC; Nair, Rajan R; Jadon, Deepak Rohit DR; McHugh, Neil N; Korendowych, Eleanor E; Elder, James T JT; Barton, Anne A; Raychaudhuri, Soumya S

Publication Date: 2017-07

Variant appearance in text: IGFBP5: R138W; rs11575194

PubMed Link: 28501801

Variant Present in the following documents:

• annrheumdis-2016-210592supp001.pdf

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: IGFBP5: R138W; rs11575194

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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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: IGFBP5: R138W

PubMed Link: 28389567

Variant Present in the following documents:

• Main text

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: IGFBP5: R138W; rs11575194

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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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: rs11575194

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: IGFBP5: R138W

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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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: IGFBP5: 412C>T; R138W; rs11575194

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2
• 40246_2015_34_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: IGFBP5: R138W; rs11575194

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

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: IGFBP5: R138W; rs11575194

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: IGFBP5: R138W; rs11575194

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: IGFBP5: R138W; rs11575194

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs11575194

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s008.xlsx, sheet 1

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Insulin-like growth factor axis gene polymorphisms and clinical outcomes in pancreatic cancer.

Gastroenterology

Dong, Xiaoqun X; Javle, Milind M; Hess, Kenneth R KR; Shroff, Rachna R; Abbruzzese, James L JL; Li, Donghui D

Publication Date: 2010-08

Variant appearance in text: IGFBP5: R138W

PubMed Link: 20416304

Variant Present in the following documents:

• Main text

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Genetic variation in IGFBP2 and IGFBP5 is associated with breast cancer in populations of African descent.

Human Genetics

Garner, Chad P CP; Ding, Yuan C YC; John, Esther M EM; Ingles, Sue A SA; Olopade, Olufunmilayo I OI; Huo, Dezheng D; Adebamowo, Clement C; Ogundiran, Temidayo T; Neuhausen, Susan L SL

Publication Date: 2008-04

Variant appearance in text: rs11575194

PubMed Link: 18210156

Variant Present in the following documents:

• Main text

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Variants in the GH-IGF axis confer susceptibility to lung cancer.

Genome Research

Rudd, Matthew F MF; Webb, Emily L EL; Matakidou, Athena A; Sellick, Gabrielle S GS; Williams, Richard D RD; Bridle, Helen H; Eisen, Tim T; Houlston, Richard S RS; ,

Publication Date: 2006-06

Variant appearance in text: IGFBP5: R138W

PubMed Link: 16741161

Variant Present in the following documents:

• Main text

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