Author
University of British ColumbiaORCID 0000-0003-0636-123XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Adeline Jacquinet, Lydie C. Flasse, Manon Dohet…·Bernard Peers
The paper identifies NR6A1 variants as a cause of congenital renal, vertebral, and uterine anomalies through clinical and zebrafish model studies.
Mehul Sharma, Maggie P. Fu, Henry Y. Lu…·Stuart E. Turvey
The paper identifies a human with complete NFAT1 deficiency, revealing its role in joint contractures, osteochondromas, and B cell malignancy through single-cell omic analyses.
Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu…·İnanç Birol
The paper evaluates STR detection tools and develops a pipeline to identify pathogenic expansions in exome/genome data, finding 27 samples with STR mutations in 306 families.