Publications:

An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics

Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L

Publication Date: 2021-12-02

Variant appearance in text: ABCA4: D947G

PubMed Link: 34856988

Variant Present in the following documents:

• 12920_2021_880_MOESM1_ESM.xls, sheet 1

View BVdb publication page

An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics

Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L

Publication Date: 2021-12-02

Variant appearance in text: ABCA4: D947G

PubMed Link: 34856988

Variant Present in the following documents:

• 12920_2021_880_MOESM1_ESM.xls, sheet 1

View BVdb publication page

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: ABCA4: 2840A>G; Asp947Gly

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: ABCA4: D947G

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page