Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: IGF2R: N2020S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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: IGF2R: N2020S; rs1805075

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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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: IGF2R: N2020S; rs1805075

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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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: IGF2R: 6059A>G; Asn2020Ser; rs1805075

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: IGF2R: 6059A>G; N2020S; rs1805075

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

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: IGF2R: N2020S

PubMed Link: 28389567

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: rs1805075

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Association between exonic polymorphism (rs629849, Gly1619Arg) of IGF2R gene and obesity in Korean population.

Journal Of Exercise Rehabilitation

Yang, Seung-Ae SA

Publication Date: 2015-10

Variant appearance in text: IGF2R: Asn2020Ser; rs1805075

PubMed Link: 26535220

Variant Present in the following documents:

• Main text

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: IGF2R: N2020S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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The role and interaction of imprinted genes in human fetal growth.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Moore, Gudrun E GE; Ishida, Miho M; Demetriou, Charalambos C; Al-Olabi, Lara L; Leon, Lydia J LJ; Thomas, Anna C AC; Abu-Amero, Sayeda S; Frost, Jennifer M JM; Stafford, Jaime L JL; Chaoqun, Yao Y; Duncan, Andrew J AJ; Baigel, Rachel R; Brimioulle, Marina M; Iglesias-Platas, Isabel I; Apostolidou, Sophia S; Aggarwal, Reena R; Whittaker, John C JC; Syngelaki, Argyro A; Nicolaides, Kypros H KH; Regan, Lesley L; Monk, David D; Stanier, Philip P

Publication Date: 2015-03-05

Variant appearance in text: rs1805075

PubMed Link: 25602077

Variant Present in the following documents:

• Main text
• rstb20140074.pdf

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: IGF2R: N2020S; rs1805075

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: IGF2R: N2020S; rs1805075

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: IGF2R: N2020S; rs1805075

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 3

View BVdb publication page

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Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.

Plos One

Demetriou, Charalambos C; Abu-Amero, Sayeda S; Thomas, Anna C AC; Ishida, Miho M; Aggarwal, Reena R; Al-Olabi, Lara L; Leon, Lydia J LJ; Stafford, Jaime L JL; Syngelaki, Argyro A; Peebles, Donald D; Nicolaides, Kypros H KH; Regan, Lesley L; Stanier, Philip P; Moore, Gudrun E GE

Publication Date: 2014

Variant appearance in text: rs1805075

PubMed Link: 24454871

Variant Present in the following documents:

• Main text
• pone.0085454.pdf

View BVdb publication page

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IGF2R genetic variants, circulating IGF2 concentrations and colon cancer risk in African Americans and Whites.

Disease Markers

Hoyo, Cathrine C; Murphy, Susan K SK; Schildkraut, Joellen M JM; Vidal, Adriana C AC; Skaar, David D; Millikan, Robert C RC; Galanko, Joseph J; Sandler, Robert S RS; Jirtle, Randy R; Keku, Temitope T

Publication Date: 2012

Variant appearance in text: IGF2R: Asn2020Ser

PubMed Link: 22377707

Variant Present in the following documents:

• DM32-02-492068.pdf

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Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration.

Investigative Ophthalmology & Visual Science

Chiu, Chung-Jung CJ; Conley, Yvette P YP; Gorin, Michael B MB; Gensler, Gary G; Lai, Chao-Qiang CQ; Shang, Fu F; Taylor, Allen A

Publication Date: 2011-11-25

Variant appearance in text: rs1805075

PubMed Link: 22058336

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple gene dysfunctions lead to high cancer-susceptibility: evidences from a whole-exome sequencing study.

American Journal Of Cancer Research

He, Ming-Liang ML; Chen, Ying Y; Chen, Quan Q; He, Yaqing Y; Zhao, Jing J; Wang, Jun J; Yang, Huanming H; Kung, Hsiang-Fu HF

Publication Date: 2011

Variant appearance in text: IGF2R: N2020S

PubMed Link: 21984973

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Rizzi, Thais S TS; Arias-Vasquez, Alejandro A; Rommelse, Nanda N; Kuntsi, Jonna J; Anney, Richard R; Asherson, Philip P; Buitelaar, Jan J; Banaschewski, Tobias T; Ebstein, Richard R; Ruano, Dina D; Van der Sluis, Sophie S; Markunas, Christina A CA; Garrett, Melanie E ME; Ashley-Koch, Allison E AE; Kollins, Scott H SH; Anastopoulos, Arthur D AD; Hansell, Narelle K NK; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Harris, Sarah E SE; Davies, Gail G; Tenesa, Albert A; Porteous, David J DJ; Starr, John M JM; Deary, Ian J IJ; St Pourcain, Beate B; Davey Smith, George G; Timpson, Nicholas J NJ; Evans, David M DM; Gill, Michael M; Miranda, Ana A; Mulas, Fernando F; Oades, Robert D RD; Roeyers, Herbert H; Rothenberger, Aribert A; Sergeant, Joseph J; Sonuga-Barke, Edmund E; Steinhausen, Hans Christoph HC; Taylor, Eric E; Faraone, Stephen V SV; Franke, Barbara B; Posthuma, Danielle D

Publication Date: 2011-03

Variant appearance in text: rs1805075

PubMed Link: 21302343

Variant Present in the following documents:

• Main text
• ajmg0156-0145.pdf

View BVdb publication page

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IGF2R polymorphisms and risk of esophageal and gastric adenocarcinomas.

International Journal Of Cancer

Hoyo, Cathrine C; Schildkraut, Joellen M JM; Murphy, Susan K SK; Chow, Wong-Ho WH; Vaughan, Thomas L TL; Risch, Harvey H; Marks, Jeffrey R JR; Jirtle, Randy L RL; Calingaert, Brian B; Calingeart, Brian B; Mayne, Susan S; Fraumeni, Joseph J; Gammon, Marilie D MD

Publication Date: 2009-12-01

Variant appearance in text: IGF2R: Asn2020Ser

PubMed Link: 19626700

Variant Present in the following documents:

• Main text

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Structure of a functional IGF2R fragment determined from the anomalous scattering of sulfur.

The Embo Journal

Brown, James J; Esnouf, Robert M RM; Jones, Margaret A MA; Linnell, Jane J; Harlos, Karl K; Hassan, A Bassim AB; Jones, E Yvonne EY

Publication Date: 2002-03-01

Variant appearance in text: IGF2R: Asn2020Ser

PubMed Link: 11867533

Variant Present in the following documents:

• Main text

View BVdb publication page

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