Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs13312

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Prediction of Parkinson's Disease Risk Based on Genetic Profile and Established Risk Factors.

Genes

Chairta, Paraskevi P PP; Hadjisavvas, Andreas A; Georgiou, Andrea N AN; Loizidou, Maria A MA; Yiangou, Kristia K; Demetriou, Christiana A CA; Christou, Yiolanda P YP; Pantziaris, Marios M; Michailidou, Kyriaki K; Zamba-Papanicolaou, Eleni E

Publication Date: 2021-08-20

Variant appearance in text: rs13312

PubMed Link: 34440451

Variant Present in the following documents:

• Main text
• genes-12-01278.pdf

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Differences in MTHFR and LRRK2 variant's association with sporadic Parkinson's disease in Mexican Mestizos correlated to Native American ancestry.

Npj Parkinson'S Disease

Romero-Gutiérrez, Elizabeth E; Vázquez-Cárdenas, Paola P; Moreno-Macías, Hortensia H; Salas-Pacheco, José J; Tusié-Luna, Teresa T; Arias-Carrión, Oscar O

Publication Date: 2021-02-11

Variant appearance in text: rs13312

PubMed Link: 33574311

Variant Present in the following documents:

• Main text
• 41531_2021_Article_157.pdf

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USP24 stabilizes bromodomain containing proteins to promote lung cancer malignancy.

Scientific Reports

Wang, Shao-An SA; Young, Ming-Jer MJ; Jeng, Wen-Yih WY; Liu, Chia-Yu CY; Hung, Jan-Jong JJ

Publication Date: 2020-11-30

Variant appearance in text: rs13312

PubMed Link: 33257797

Variant Present in the following documents:

• Main text
• 41598_2020_Article_78000.pdf

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Genetic drug target validation using Mendelian randomisation.

Nature Communications

Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD

Publication Date: 2020-06-26

Variant appearance in text: rs13312

PubMed Link: 32591531

Variant Present in the following documents:

• 41467_2020_16969_MOESM1_ESM.pdf

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Genetic and Environmental Factors Contributing to Parkinson's Disease: A Case-Control Study in the Cypriot Population.

Frontiers In Neurology

Georgiou, Andrea A; Demetriou, Christiana A CA; Christou, Yiolanda P YP; Heraclides, Alexandros A; Leonidou, Eleni E; Loukaides, Panayiotis P; Yiasoumi, Elena E; Pantziaris, Marios M; Kleopa, Kleopas A KA; Papacostas, Savvas S SS; Loizidou, Maria A MA; Hadjisavvas, Andreas A; Zamba-Papanicolaou, Eleni E

Publication Date: 2019

Variant appearance in text: rs13312

PubMed Link: 31681140

Variant Present in the following documents:

• Main text
• fneur-10-01047.pdf

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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: rs13312

PubMed Link: 29221171

Variant Present in the following documents:

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

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs13312

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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EGF-mediated inhibition of ubiquitin-specific peptidase 24 expression has a crucial role in tumorigenesis.

Oncogene

Wang, S-A SA; Wang, Y-C YC; Chuang, Y-P YP; Huang, Y-H YH; Su, W-C WC; Chang, W-C WC; Hung, J-J JJ

Publication Date: 2017-05-25

Variant appearance in text: rs13312

PubMed Link: 27991932

Variant Present in the following documents:

• Main text
• onc2016445a.pdf

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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: rs13312

PubMed Link: 25944692

Variant Present in the following documents:

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

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Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Plos Genetics

Do, Chuong B CB; Tung, Joyce Y JY; Dorfman, Elizabeth E; Kiefer, Amy K AK; Drabant, Emily M EM; Francke, Uta U; Mountain, Joanna L JL; Goldman, Samuel M SM; Tanner, Caroline M CM; Langston, J William JW; Wojcicki, Anne A; Eriksson, Nicholas N

Publication Date: 2011-06

Variant appearance in text: rs13312

PubMed Link: 21738487

Variant Present in the following documents:

• Main text
• pgen.1002141.pdf

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Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Journal Of Lipid Research

Guella, Ilaria I; Asselta, Rosanna R; Ardissino, Diego D; Merlini, Pier Angelica PA; Peyvandi, Flora F; Kathiresan, Sekar S; Mannucci, Pier Mannuccio PM; Tubaro, Marco M; Duga, Stefano S

Publication Date: 2010-11

Variant appearance in text: rs13312

PubMed Link: 20699424

Variant Present in the following documents:

• Main text

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Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics

Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD

Publication Date: 2009-06-15

Variant appearance in text: rs13312

PubMed Link: 19336475

Variant Present in the following documents:

• ddp159_1.pdf

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Fine-mapping and candidate gene investigation within the PARK10 locus.

European Journal Of Human Genetics : Ejhg

Haugarvoll, Kristoffer K; Toft, Mathias M; Skipper, Lisa L; Heckman, Michael G MG; Crook, Julia E JE; Soto, Alexandra A; Ross, Owen A OA; Hulihan, Mary M MM; Kachergus, Jennifer M JM; Sando, Sigrid B SB; White, Linda R LR; Lynch, Timothy T; Gibson, J Mark JM; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Aasly, Jan O JO; Farrer, Matthew J MJ

Publication Date: 2009-03

Variant appearance in text: rs13312

PubMed Link: 18854859

Variant Present in the following documents:

• Main text

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Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

American Journal Of Human Genetics

Oliveira, Sofia A SA; Li, Yi-Ju YJ; Noureddine, Maher A MA; Zuchner, Stephan S; Qin, Xuejun X; Pericak-Vance, Margaret A MA; Vance, Jeffery M JM

Publication Date: 2005-08

Variant appearance in text: rs13312

PubMed Link: 15986317

Variant Present in the following documents:

• Main text

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