Author

Barbara J.M. Mulder

Amsterdam UMC Location University of AmsterdamORCID 0000-0001-8087-1786Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alex Vincent PostmaiD· 1 shared Ana TöpfiD· 1 shared Bernard D. KeavneyiD· 1 shared Connie R. BezzinaiD· 1 shared David Scott WinlawiD· 1 shared Donna J. PageiD· 1 shared Elisavet FotiouiD· 1 shared Frances A Bu'LockiD· 1 shared

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2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alex Vincent PostmaORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintApr 13, 2018

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Donna J. Page, Matthieu J. Miossec, Simon G. Williams…·Bernard D. Keavney

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.

DOI 10.1101/300905

humanwhole-exome sequencing

𝕏 PostBluesky