Joanna Kaplanis
Hinxton, ENG CB101SA, United Kingdom
Last Updated: 09/26/2026
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Found 16 publications
Improved discovery of de novo mutations using TrioDNM and VRFS.
Journal: GigaScience
Published: July 01, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2025
Detection and characterization of copy-number variants from exome sequencing in the DDD study.
Journal: Genetics in medicine open
Published: August 03, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Journal: The New England journal of medicine
Published: April 12, 2023
Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Journal: Nature communications
Published: September 27, 2022
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation.
Journal: Nature genetics
Published: August 04, 2021
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation.
Journal: Nature genetics
Published: August 04, 2021
Genetic and chemotherapeutic influences on germline hypermutation.
Journal: Nature
Published: June 01, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Journal: American journal of human genetics
Published: February 08, 2021
The contribution of X-linked coding variation to severe developmental disorders.
Journal: Nature communications
Published: March 16, 2020
Last Updated: 09/26/2026