Associated Papers
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
Corder ML et al.
American Journal of Medical Genetics. Part A, 2022
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A et al.
Human Genetics, 2021
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.
Dai Z et al.
European Journal of Medical Genetics, 2017
Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.
Leslie EJ et al.
Clinical Genetics, 2013
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