Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ORC6: P138L; rs3218745

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: ORC6: 413C>T; Pro138Leu

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: ORC6: P138L

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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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: rs3218745

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Journal Of Medical Genetics

Sharma, Manu M; Ioannidis, John P A JP; Aasly, Jan O JO; Annesi, Grazia G; Brice, Alexis A; Bertram, Lars L; Bozi, Maria M; Barcikowska, Maria M; Crosiers, David D; Clarke, Carl E CE; Facheris, Maurizio F MF; Farrer, Matthew M; Garraux, Gaetan G; Gispert, Suzana S; Auburger, Georg G; Vilariño-Güell, Carles C; Hadjigeorgiou, Georgios M GM; Hicks, Andrew A AA; Hattori, Nobutaka N; Jeon, Beom S BS; Jamrozik, Zygmunt Z; Krygowska-Wajs, Anna A; Lesage, Suzanne S; Lill, Christina M CM; Lin, Juei-Jueng JJ; Lynch, Timothy T; Lichtner, Peter P; Lang, Anthony E AE; Libioulle, Cecile C; Murata, Miho M; Mok, Vincent V; Jasinska-Myga, Barbara B; Mellick, George D GD; Morrison, Karen E KE; Meitnger, Thomas T; Zimprich, Alexander A; Opala, Grzegorz G; Pramstaller, Peter P PP; Pichler, Irene I; Park, Sung Sup SS; Quattrone, Aldo A; Rogaeva, Ekaterina E; Ross, Owen A OA; Stefanis, Leonidas L; Stockton, Joanne D JD; Satake, Wataru W; Silburn, Peter A PA; Strom, Tim M TM; Theuns, Jessie J; Tan, Eng-King EK; Toda, Tatsushi T; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Van Broeckhoven, Christine C; Wirdefeldt, Karin K; Wszolek, Zbigniew Z; Xiromerisiou, Georgia G; Yomono, Harumi S HS; Yueh, Kuo-Chu KC; Zhao, Yi Y; Gasser, Thomas T; Maraganore, Demetrius D; Krüger, Rejko R; ,

Publication Date: 2012-11

Variant appearance in text: rs3218745

PubMed Link: 23125461

Variant Present in the following documents:

• Main text
• jmedgenet-2012-101155.pdf

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