Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs7167216

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: BLM: V1321L

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Telomere length is not a main factor for the development of islet autoimmunity and type 1 diabetes in the TEDDY study.

Scientific Reports

Törn, Carina C; Liu, Xiang X; Onengut-Gumuscu, Suna S; Counts, Kevin M KM; Moreno, Jose Leonardo JL; Remedios, Cassandra L CL; Chen, Wei-Min WM; LeFaive, Jonathon J; Butterworth, Martha D MD; Akolkar, Beena B; Krischer, Jeffrey P JP; Lernmark, Åke Å; Rewers, Marian M; She, Jin-Xiong JX; Toppari, Jorma J; Ziegler, Anette-Gabriele AG; Ratan, Aakrosh A; Smith, Albert V AV; Hagopian, William A WA; Rich, Stephen S SS; Parikh, Hemang M HM; ,

Publication Date: 2022-03-16

Variant appearance in text: rs7167216

PubMed Link: 35296692

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8058.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: BLM: 3961G>C; V1321L

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Scientific Reports

Alzahrani, Faisal A FA; Ahmed, Firoz F; Sharma, Monika M; Rehan, Mohd M; Mahfuz, Maryam M; Baeshen, Mohammed N MN; Hawsawi, Yousef Y; Almatrafi, Ahmed A; Alsagaby, Suliman Abdallah SA; Kamal, Mohammad Azhar MA; Warsi, Mohiuddin Khan MK; Choudhry, Hani H; Jamal, Mohammad Sarwar MS

Publication Date: 2020-07-23

Variant appearance in text: rs7167216

PubMed Link: 32704157

Variant Present in the following documents:

• 41598_2020_69033_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: rs7167216

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs7167216

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Plos Genetics

Thompson, Ella R ER; Doyle, Maria A MA; Ryland, Georgina L GL; Rowley, Simone M SM; Choong, David Y H DY; Tothill, Richard W RW; Thorne, Heather H; , ; Barnes, Daniel R DR; Li, Jason J; Ellul, Jason J; Philip, Gayle K GK; Antill, Yoland C YC; James, Paul A PA; Trainer, Alison H AH; Mitchell, Gillian G; Campbell, Ian G IG

Publication Date: 2012-09

Variant appearance in text: rs7167216

PubMed Link: 23028338

Variant Present in the following documents:

• pgen.1002894.pdf
• pgen.1002894.s005.xlsx, sheet 1

View BVdb publication page

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