Publications:

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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: IGF2R: T713T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: IGF2R: T713T

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: IGF2R: T713T

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: IGF2R: T713T

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: IGF2R: 2139A>G; T713T; rs998075

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: IGF2R: T713T; rs998075

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: T713T; rs998075

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs998075

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: IGF2R: T713T; rs998075

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_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: rs998075

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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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: 2139A>G; rs998075

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• 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: 2139A>G; T713T; rs998075

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies

Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE

Publication Date: 2018-04

Variant appearance in text: IGF2R: 2139A>G; Thr713=; rs998075

PubMed Link: 29449315

Variant Present in the following documents:

• supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: IGF2R: T713T; rs998075

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs998075

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: IGF2R: T713T; rs998075

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Assessing the role of insulin-like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels.

International Journal Of Cancer

Bonilla, Carolina C; Lewis, Sarah J SJ; Rowlands, Mari-Anne MA; Gaunt, Tom R TR; Davey Smith, George G; Gunnell, David D; Palmer, Tom T; Donovan, Jenny L JL; Hamdy, Freddie C FC; Neal, David E DE; Eeles, Rosalind R; Easton, Doug D; Kote-Jarai, Zsofia Z; Al Olama, Ali Amin AA; Benlloch, Sara S; Muir, Kenneth K; Giles, Graham G GG; Wiklund, Fredrik F; Grönberg, Henrik H; Haiman, Christopher A CA; Schleutker, Johanna J; Nordestgaard, Børge G BG; Travis, Ruth C RC; Pashayan, Nora N; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen S; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Brenner, Hermann H; Park, Jong J; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Pandha, Hardev H; , ; Lathrop, Mark M; Martin, Richard M RM; Holly, Jeff M P JM

Publication Date: 2016-10-01

Variant appearance in text: rs998075

PubMed Link: 27225428

Variant Present in the following documents:

• Main text
• IJC-139-1520.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: IGF2R: T713T; rs998075

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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A screening-testing approach for detecting gene-environment interactions using sequential penalized and unpenalized multiple logistic regression.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Frost, H Robert HR; Andrew, Angeline S AS; Karagas, Margaret R MR; Moore, Jason H JH

Publication Date: 2015

Variant appearance in text: rs998075

PubMed Link: 25592580

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: N/A

PubMed Link: 25496518

Variant Present in the following documents:

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: T713T; rs998075

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: N/A

PubMed Link: 25333361

Variant Present in the following documents:

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: T713T; rs998075

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: IGF2R: T713T; rs998075

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

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: rs998075

PubMed Link: 24194259

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quantitative allele-specific expression and DNA methylation analysis of H19, IGF2 and IGF2R in the human placenta across gestation reveals H19 imprinting plasticity.

Plos One

Buckberry, Sam S; Bianco-Miotto, Tina T; Hiendleder, Stefan S; Roberts, Claire T CT

Publication Date: 2012

Variant appearance in text: rs998075

PubMed Link: 23227253

Variant Present in the following documents:

• Main text
• pone.0051210.pdf
• pone.0051210.s006.pdf

View BVdb publication page

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A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma.

Bmc Cancer

Mirabello, Lisa L; Yu, Kai K; Berndt, Sonja I SI; Burdett, Laurie L; Wang, Zhaoming Z; Chowdhury, Salma S; Teshome, Kedest K; Uzoka, Arinze A; Hutchinson, Amy A; Grotmol, Tom T; Douglass, Chester C; Hayes, Richard B RB; Hoover, Robert N RN; Savage, Sharon A SA; ,

Publication Date: 2011-05-29

Variant appearance in text: rs998075

PubMed Link: 21619704

Variant Present in the following documents:

• Main text
• 1471-2407-11-209.pdf

View BVdb publication page

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Using epidemiology and genomics to understand osteosarcoma etiology.

Sarcoma

Savage, Sharon A SA; Mirabello, Lisa L

Publication Date: 2011

Variant appearance in text: rs998075

PubMed Link: 21437228

Variant Present in the following documents:

• Main text
• SRCM2011-548151.pdf

View BVdb publication page

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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: N/A

PubMed Link: 20416304

Variant Present in the following documents:

View BVdb publication page

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High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.

Bmc Genetics

Daelemans, Caroline C; Ritchie, Matthew E ME; Smits, Guillaume G; Abu-Amero, Sayeda S; Sudbery, Ian M IM; Forrest, Matthew S MS; Campino, Susana S; Clark, Taane G TG; Stanier, Philip P; Kwiatkowski, Dominic D; Deloukas, Panos P; Dermitzakis, Emmanouil T ET; Tavaré, Simon S; Moore, Gudrun E GE; Dunham, Ian I

Publication Date: 2010-04-19

Variant appearance in text: rs998075

PubMed Link: 20403199

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density.

Bmc Medical Genomics

Biong, Margarethe M; Gram, Inger T IT; Brill, Ilene I; Johansen, Fredrik F; Solvang, Hiroko K HK; Alnaes, Grethe I G GI; Fagerheim, Toril T; Bremnes, Yngve Y; Chanock, Stephen J SJ; Burdett, Laurie L; Yeager, Meredith M; Ursin, Giske G; Kristensen, Vessela N VN

Publication Date: 2010-03-19

Variant appearance in text: rs998075

PubMed Link: 20302654

Variant Present in the following documents:

• Main text
• 1755-8794-3-9.pdf

View BVdb publication page

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