Publications
Filters: Author is White, Janson [Clear All Filters]
Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 ;73(1):68-75.
. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2022 ;3(1):100074.
. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 ;96(4):612-22.
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