Publications
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Filters: Author is Beaudet, Arthur L and Keyword is Adolescent [Clear All Filters]
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 ;104(3):422-438.
. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 ;97(6):904-13.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
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