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: APOB: R1897S; rs189341276

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Spatiotemporal assessment of immunogenomic heterogeneity in multiple myeloma.

Blood Advances

Merz, Maximilian M; Hu, Qiang Q; Merz, Almuth Maria Anni AMA; Wang, Jie J; Hutson, Nicholas N; Rondeau, Cherie C; Celotto, Kimberly K; Belal, Ahmed A; Alberico, Ronald R; Block, AnneMarie A; Mohammadpour, Hemn H; Wallace, Paul K PK; Tario, Joseph D JD; Luce, Jesse J; Glenn, Sean T ST; Singh, Prashant K PK; Samur, Mehmet Kemal MK; Munshi, Nikhil C NC; Liu, Song S; McCarthy, Philip L PL; Wei, Lei L; Hillengass, Jens J

Publication Date: 2022-07-22

Variant appearance in text: APOB: R1897S

PubMed Link: 35868022

Variant Present in the following documents:

• BLOODA_ADV-2022-007457-mmc2.xlsx, sheet 1

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Deciphering spatial genomic heterogeneity at a single cell resolution in multiple myeloma.

Nature Communications

Merz, Maximilian M; Merz, Almuth Maria Anni AMA; Wang, Jie J; Wei, Lei L; Hu, Qiang Q; Hutson, Nicholas N; Rondeau, Cherie C; Celotto, Kimberly K; Belal, Ahmed A; Alberico, Ronald R; Block, AnneMarie W AW; Mohammadpour, Hemn H; Wallace, Paul K PK; Tario, Joseph J; Luce, Jesse J; Glenn, Sean T ST; Singh, Prashant P; Herr, Megan M MM; Hahn, Theresa T; Samur, Mehmet M; Munshi, Nikhil N; Liu, Song S; McCarthy, Philip L PL; Hillengass, Jens J

Publication Date: 2022-02-10

Variant appearance in text: APOB: R1897S

PubMed Link: 35145077

Variant Present in the following documents:

• 41467_2022_28266_MOESM4_ESM.xlsx, sheet 5

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: rs189341276

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1

View BVdb publication page