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: rs2075642

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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APOE alleles modulate associations of plasma metabolites with variants from multiple genes on chromosome 19q13.3.

Frontiers In Aging Neuroscience

Nazarian, Alireza A; Loiko, Elena E; Yassine, Hussein N HN; Finch, Caleb E CE; Kulminski, Alexander M AM

Publication Date: 2022

Variant appearance in text: rs2075642

PubMed Link: 36389057

Variant Present in the following documents:

• Main text
• fnagi-14-1023493.pdf

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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: rs2075642

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: rs2075642

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

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Genetic and regulatory architecture of Alzheimer's disease in the APOE region.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Kulminski, Alexander M AM; Shu, Leonardo L; Loika, Yury Y; He, Liang L; Nazarian, Alireza A; Arbeev, Konstantin K; Ukraintseva, Svetlana S; Yashin, Anatoliy A; Culminskaya, Irina I

Publication Date: 2020

Variant appearance in text: rs2075642

PubMed Link: 32211503

Variant Present in the following documents:

• Main text
• DAD2-12-e12008-s007.xlsx, sheet 1
• DAD2-12-e12008.pdf

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DNA methylation QTL analysis identifies new regulators of human longevity.

Human Molecular Genetics

Szymczak, Silke S; Dose, Janina J; Torres, Guillermo G GG; Heinsen, Femke-Anouska FA; Venkatesh, Geetha G; Datlinger, Paul P; Nygaard, Marianne M; Mengel-From, Jonas J; Flachsbart, Friederike F; Klapper, Wolfram W; Christensen, Kaare K; Lieb, Wolfgang W; Schreiber, Stefan S; Häsler, Robert R; Bock, Christoph C; Franke, Andre A; Nebel, Almut A

Publication Date: 2020-05-08

Variant appearance in text: rs2075642

PubMed Link: 32160291

Variant Present in the following documents:

• Main text
• ddaa033.pdf

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Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.

Molecular Psychiatry

Yan, Qi Q; Nho, Kwangsik K; Del-Aguila, Jorge L JL; Wang, Xingbin X; Risacher, Shannon L SL; Fan, Kang-Hsien KH; Snitz, Beth E BE; Aizenstein, Howard J HJ; Mathis, Chester A CA; Lopez, Oscar L OL; Demirci, F Yesim FY; Feingold, Eleanor E; Klunk, William E WE; Saykin, Andrew J AJ; , ; Cruchaga, Carlos C; Kamboh, M Ilyas MI

Publication Date: 2021-01

Variant appearance in text: rs2075642

PubMed Link: 30361487

Variant Present in the following documents:

• Main text
• 41380_2018_Article_246.pdf

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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: rs2075642

PubMed Link: 30319441

Variant Present in the following documents:

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

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Variable Selection in Heterogeneous Datasets: A Truncated-rank Sparse Linear Mixed Model with Applications to Genome-wide Association Studies.

Proceedings. Ieee International Conference On Bioinformatics And Biomedicine

Wang, Haohan H; Aragam, Bryon B; Xing, Eric P EP

Publication Date: 2017-11

Variant appearance in text: rs2075642

PubMed Link: 29629235

Variant Present in the following documents:

• Main text

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The importance of genetic factors for the development of arthropathy: a longitudinal study of children and adolescents with haemophilia A.

Thrombosis And Haemostasis

Gomperts, Edward D ED; Schwarz, John J; Donfield, Sharyne M SM; Lail, Alice E AE; Astermark, Jan J; Hoots, W Keith WK; Winkler, Cheryl A CA; Berntorp, Erik E

Publication Date: 2017-01-26

Variant appearance in text: rs2075642

PubMed Link: 27929201

Variant Present in the following documents:

• Main text

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Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Breast Cancer Research : Bcr

Walker, Logan C LC; Fredericksen, Zachary S ZS; Wang, Xianshu X; Tarrell, Robert R; Pankratz, Vernon S VS; Lindor, Noralane M NM; Beesley, Jonathan J; Healey, Sue S; Chen, Xiaoqing X; , ; Stoppa-Lyonnet, Dominique D; Tirapo, Carole C; Giraud, Sophie S; Mazoyer, Sylvie S; Muller, Danièle D; Fricker, Jean-Pierre JP; Delnatte, Capucine C; , ; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Engel, Christoph C; Schönbuchner, Ines I; Deissler, Helmut H; Meindl, Alfons A; Hogervorst, Frans B FB; Verheus, Martijn M; Hooning, Maartje J MJ; van den Ouweland, Ans Mw AM; Nelen, Marcel R MR; Ausems, Margreet Gem MG; Aalfs, Cora M CM; van Asperen, Christi J CJ; Devilee, Peter P; Gerrits, Monique M MM; Waisfisz, Quinten Q; , ; Szabo, Csilla I CI; , ; Easton, Douglas F DF; Peock, Susan S; Cook, Margaret M; Oliver, Clare T CT; Frost, Debra D; Harrington, Patricia P; Evans, D Gareth DG; Lalloo, Fiona F; Eeles, Ros R; Izatt, Louise L; Chu, Carol C; Davidson, Rosemarie R; Eccles, Diana D; Ong, Kai-Ren KR; Cook, Jackie J; , ; Rebbeck, Tim T; Nathanson, Katherine L KL; Domchek, Susan M SM; Singer, Christian F CF; Gschwantler-Kaulich, Daphne D; Dressler, Anne-Catharina AC; Pfeiler, Georg G; Godwin, Andrew K AK; Heikkinen, Tuomas T; Nevanlinna, Heli H; Agnarsson, Bjarni A BA; Caligo, Maria Adelaide MA; Olsson, Håkan H; Kristoffersson, Ulf U; Liljegren, Annelie A; Arver, Brita B; Karlsson, Per P; Melin, Beatrice B; , ; Sinilnikova, Olga M OM; McGuffog, Lesley L; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Couch, Fergus J FJ

Publication Date: 2010

Variant appearance in text: rs2075642

PubMed Link: 21114847

Variant Present in the following documents:

• Main text
• bcr2785.pdf

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Genetic evidence for the role of loci at 19q13 in cleft lip and palate.

Journal Of Medical Genetics

Warrington, A A; Vieira, A R AR; Christensen, K K; Orioli, I M IM; Castilla, E E EE; Romitti, P A PA; Murray, J C JC

Publication Date: 2006-06

Variant appearance in text: rs2075642

PubMed Link: 16740910

Variant Present in the following documents:

• Main text

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