Associated Papers
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.
Savatt JM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
Peng Y et al.
International Journal of Molecular Sciences, 2018
29300326 (PubMed )
Supplement: ijms-19-00141-s001.pdf
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
Cross JL et al.
Clinical Genetics, 2015
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Alkuraya FS et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2005
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