Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM et al.
Human Molecular Genetics, 2021
34046667 (PubMed )
Supplement: supplemental_files_revised_ddab142.pdf
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.
Taha Najim R et al.
Acta Ophthalmologica, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
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