Author

Paolo M. Moretti

Michael E. DeBakey VA Medical CenterORCID 0000-0002-7462-4436Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Christine M. EngiD· 2 shared Jill Anne RosenfeldiD· 2 shared Undiagnosed Diseases Network· 2 shared Adam W. HanseniD· 1 shared Adekunle M. AdesinaiD· 1 shared Alper GezdiriciiD· 1 shared Anne Michele SlavotinekiD· 1 shared Brendan LeeiD· 1 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christine M. EngORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 29, 2020

AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

Johannes A. Birgmeier, Ethan Steinberg, Ethan E. Bodle…·Gill Bejerano

AMELIE 3 automatically reanalyzes undiagnosed Mendelian disease patients using new literature, achieving 80% diagnostic yield with 0.5-1 alerts per patient per year.

5 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%

human

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