Publications
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Author Title [ Year] Filters: Author is Bole-Feysot, Christine [Clear All Filters]
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. Am J Hum Genet 106, 779-792 (2020).
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med 22, 1215-1226 (2020).
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).