Author

Joan Marilyn Stoler

Boston Children's HospitalORCID 0000-0001-8885-1528Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Christine M. EngiD· 2 shared Devon E. BonneriD· 2 shared Jill Anne RosenfeldiD· 2 shared Jonathan Adam BernsteiniD· 2 shared Vandana ShashiiD· 2 shared Adeline Vanderver· 1 shared Alan H. BeggsiD· 1 shared Allyn McConkie‐RoselliD· 1 shared

Activity by Year

2020-2026 · 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

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedOct 1, 2026

Domain specific phenotypic expansion associated with variants in MACF1

Nikhita Gogate, Angad Jolly, Jill Anne Rosenfeld…·Shamil R. Sunyaev

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

1 citation

humanstatistical model

𝕏 PostBluesky

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

𝕏 PostBluesky