JD Smith

Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions

Taralynn Mack, Jiadong Lin, Luyao Ren, Min-Hwan Sohn et autres

Structural variants (SVs) contribute substantially to genomic variation and disease, but detecting somatic SVs (sSVs) remains difficult due to reference bias, mosaicism, and enrichment in repetitive regions. Linear reference genomes, like GRCh38 and CHM13, do not fully capture individual genomic structure, which …

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Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

Eric Venner, Donna Marie Muzny, JD Smith, Kimberly Walker et autres

Abstract The All of Us Research Program (AoURP, ‘the program’) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the United States. Through repeated engagement of participants, a research resource …

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Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290‐300

CM Clarke, VT Fok, JA Gustafson, MD Smyth et autres

DOI: 10.1002/ajmg.a.38540 After publishing this manuscript two data errors were identified. Neither error affects the interpretation of the data. Table 3 lists three patients with TCF12 variants. Proband 95628 is listed as a female with a c.1907A>G; p.(Lys636Arg) variant. This proband is …

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Phenotype of heterozygotes with mutations in the ORF 15 (open reading frame 15) of RPGR

Ralston M. Barnes, Graham E. Holder, JD Smith, P.R. Drizen et autres

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Crystalluria with sulphadiazine

JD Smith

Kidney toxicity is the most common but less frequently uveitis, macular oedema, neutropenia, thrombocytopenia, nausea, fever, hair loss, and muscle pain have also been observed. 2 When administered topically or intralesionally cidofovir has not, to date, shown systemic toxicity.Surgical excision remains the …

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Localization of a liver-specific enhancer in the apolipoprotein E/C-I/C-II gene locus

Neil S. Shachter, Yijun Zhu, A Walsh, JL Breslow et autres

The sequences necessary for liver-specific expression of the apolipoprotein (apo) E gene have been shown to reside 3' to the gene, within the apoE/C-I/C-II gene cluster, but have not been precisely characterized. Utilizing a transient transfection reporter gene assay based on the …

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