Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
Soomann M et al.
The Journal of Allergy and Clinical Immunology, 2024
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
Chuzhanova N et al.
Human Mutation, 2009
Gene conversion: mechanisms, evolution and human disease.
Chen JM et al.
Nature Reviews. Genetics, 2007
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