Associated Papers
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.
Ochoa E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40825131 (PubMed )
Supplement: pnas.2505884122.sd01.xlsx › Sheet1
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.
Vall-Palomar M et al.
Plos Genetics, 2025
40173198 (PubMed )
Supplement: pgen.1011568.s004.xlsx › Table_2
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S10
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