Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene.
Amoedo P et al.
Dermatology Online Journal, 2023
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 2022
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A et al.
Genes, 2021
33435499 (PubMed )
Supplement: genes-12-00080-s001.pdf
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
33314633 (PubMed )
Supplement: CAM4-10-53-s003.xlsx › Sheet1
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
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