B. Porath

TFEB-VEGFA (6p21.1) co-amplified renal cell carcinoma: a distinct entity with potential implications for clinical management

Sarah H. Johnson, J. Cheville, R. Thompson, 2017, Modern Pathology.

Cux1 promotes cell proliferation and polycystic kidney disease progression in an ADPKD mouse model.

R. Baybutt, Joshua C. Wright, G. V. Vanden Heuvel, 2017, American journal of physiology. Renal physiology.

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

Marie E. Edwards, V. Tasic, A. Chapman, 2016, American journal of human genetics.

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.

S. Somlo, S. Baheti, C. Férec, 2018, American journal of human genetics.

Factors affecting migration to GRCh38 in laboratories performing clinical next-generation sequencing.

Neil A. Miller, E. Farrow, C. Saunders, 2021, The Journal of molecular diagnostics : JMD.

A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype

Ping Mayo, D. Rinker, Laura A. Lee, 2022, Molecular genetics & genomic medicine.

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

Marie E. Edwards, V. Tasic, A. Chapman, 2016, American journal of human genetics.

Depressive symptoms are associated with DNA methylation age acceleration in a cross-sectional analysis of adults over age 50 in the United States

Hong Wang, E. Ware, K. Bakulski, 2023, medRxiv.