Author

Magalie S. Leduc

Baylor College of MedicineORCID 0000-0003-3815-5510Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Christine M. EngiD· 2 shared Donna Marie MuznyiD· 2 shared Richard A. GibbsiD· 2 shared Weimin BiiD· 2 shared Yaping YangiD· 2 shared Yunyun JiangiD· 2 shared Adam W. HanseniD· 1 shared Adekunle M. AdesinaiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenomics

Christine M. EngORCID

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2 papers

Recent·Most cited

GenomicsGenetics in MedicinePeer-reviewedMar 19, 2019

Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

Theodore Chiang, Xiuping Liu, Tsung-Jung Wu…·Richard A. Gibbs

Atlas-CNV identifies single-exon CNVs in targeted sequencing data with reduced false discovery rate using C-scores and ExonQC thresholds.

28 citations

humanwhole-exome sequencing

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GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewedSep 15, 2018

Phenotypic expansion in DDX3X -- a common cause of intellectual disability in females

Xia Wang, Jennifer Ellen Posey, Jill Anne Rosenfeld…·Paolo M. Moretti

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.

84 citationstop 3%

𝕏 PostBluesky