Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: N/A

PubMed Link: 36991000

Variant Present in the following documents:

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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: N/A

PubMed Link: 36241656

Variant Present in the following documents:

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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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

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ABCA7 and the altered lipidostasis hypothesis of Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Lyssenko, Nicholas N NN; Praticò, Domenico D

Publication Date: 2021-02

Variant appearance in text: rs3752241

PubMed Link: 33336544

Variant Present in the following documents:

• ALZ-17-164-s001.pdf

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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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

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Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

Nature Genetics

Jansen, Iris E IE; Savage, Jeanne E JE; Watanabe, Kyoko K; Bryois, Julien J; Williams, Dylan M DM; Steinberg, Stacy S; Sealock, Julia J; Karlsson, Ida K IK; Hägg, Sara S; Athanasiu, Lavinia L; Voyle, Nicola N; Proitsi, Petroula P; Witoelar, Aree A; Stringer, Sven S; Aarsland, Dag D; Almdahl, Ina S IS; Andersen, Fred F; Bergh, Sverre S; Bettella, Francesco F; Bjornsson, Sigurbjorn S; Brækhus, Anne A; Bråthen, Geir G; de Leeuw, Christiaan C; Desikan, Rahul S RS; Djurovic, Srdjan S; Dumitrescu, Logan L; Fladby, Tormod T; Hohman, Timothy J TJ; Jonsson, Palmi V PV; Kiddle, Steven J SJ; Rongve, Arvid A; Saltvedt, Ingvild I; Sando, Sigrid B SB; Selbæk, Geir G; Shoai, Maryam M; Skene, Nathan G NG; Snaedal, Jon J; Stordal, Eystein E; Ulstein, Ingun D ID; Wang, Yunpeng Y; White, Linda R LR; Hardy, John J; Hjerling-Leffler, Jens J; Sullivan, Patrick F PF; van der Flier, Wiesje M WM; Dobson, Richard R; Davis, Lea K LK; Stefansson, Hreinn H; Stefansson, Kari K; Pedersen, Nancy L NL; Ripke, Stephan S; Andreassen, Ole A OA; Posthuma, Danielle D

Publication Date: 2019-03

Variant appearance in text: rs3752241

PubMed Link: 30617256

Variant Present in the following documents:

• Main text

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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: ABCA7: 3417C>G; rs3752241

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

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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: rs3752241

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

Acta Neuropathologica

De Roeck, Arne A; Van den Bossche, Tobi T; van der Zee, Julie J; Verheijen, Jan J; De Coster, Wouter W; Van Dongen, Jasper J; Dillen, Lubina L; Baradaran-Heravi, Yalda Y; Heeman, Bavo B; Sanchez-Valle, Raquel R; Lladó, Albert A; Nacmias, Benedetta B; Sorbi, Sandro S; Gelpi, Ellen E; Grau-Rivera, Oriol O; Gómez-Tortosa, Estrella E; Pastor, Pau P; Ortega-Cubero, Sara S; Pastor, Maria A MA; Graff, Caroline C; Thonberg, Håkan H; Benussi, Luisa L; Ghidoni, Roberta R; Binetti, Giuliano G; de Mendonça, Alexandre A; Martins, Madalena M; Borroni, Barbara B; Padovani, Alessandro A; Almeida, Maria Rosário MR; Santana, Isabel I; Diehl-Schmid, Janine J; Alexopoulos, Panagiotis P; Clarimon, Jordi J; Lleó, Alberto A; Fortea, Juan J; Tsolaki, Magda M; Koutroumani, Maria M; Matěj, Radoslav R; Rohan, Zdenek Z; De Deyn, Peter P; Engelborghs, Sebastiaan S; Cras, Patrick P; Van Broeckhoven, Christine C; Sleegers, Kristel K; ,

Publication Date: 2017-09

Variant appearance in text: N/A

PubMed Link: 28447221

Variant Present in the following documents:

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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: N/A

PubMed Link: 25944692

Variant Present in the following documents:

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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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

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