Ian D. Krantz

The paper identifies SWING regions as chromatin domains that mediate gene regulation through interactions with nuclear speckles and the lamina, showing their role in development and disease.

This study maps seminoma transcriptomes and epigenetic features to the normal human germline trajectory, revealing similarities to primordial germ cells and identifying gene dosage effects in a patient-derived model.

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

This study identifies CTCF and cohesin as essential for chromatin-nuclear speckle association, showing their role in gene inducibility and relevance to disease.

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

The paper demonstrates that RNA-seq of B lymphoblastoid cell lines can effectively diagnose neurodevelopmental disorders, including Cornelia de Lange syndrome, with high sensitivity.

The paper investigates congenital kidney and urinary tract anomalies and genital defects in DYRK1A mutation carriers, showing DYRK1A's role in genitourinary development through Xenopus studies.

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

Phenoxome improves clinical exome variant prioritization by integrating phenotypic and genomic data, achieving high accuracy in identifying causative variants.