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Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Genet Epidemiol 43, 215-226 (2019).
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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet 103, 794-807 (2018).
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CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nat Genet 50, 349-354 (2018).
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet (2018). doi:10.1038/s41431-018-0137-z
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