Vahid Akbari
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Cover Image, Volume 200A, Number 4, April 2026
Acosta Bedón, A., Akbari, V., Rothstein, R., Inman, A., Bhalla, S., An, J., Friedman, J.M., Weksberg, R., Boerkoel, C., Jones, S.J.M. and Gibson, W.T. (2026), Cover Image, Volume 200A, Number 4, April 2026. Am J Med Genet, 200:. https://doi.org/10.1002/ajmg.a.70118 Scite metrics Explore this article's citation statements on scite.ai powered by Generating QR code Select Format Something went wrong while generating your QR code. Please try again in a moment.
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
1 Introduction Biosynthesis of steroid hormones from cholesterol is a crucial metabolic pathway involved in a wide variety of developmental and physiological processes. The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnenolone by a single mitochondrial enzyme, P450scc (side chain cleavage). It is encoded by CYP11A1 on chromosome 15q (Miller and Auchus 2011).
Long-Read Sequencing of an Advanced Cancer Cohort Resolves Rearrangements, Unravels Haplotypes, and Reveals Methylation Landscapes
10.1016/j.xgen.2024.100674 Post-print yes Humans, DNA Methylation, Haplotypes, Neoplasms, Cohort Studies, Gene Rearrangement, Sequence Analysis, DNA, Promoter Regions, Genetic, High-Throughput Nucleotide Sequencing, MutL Protein Homolog 1, cancer genomics, nanopore long-read sequencing, structural variant detection, allelically differentially methylated regions (aDMRs), allele-specific expression, long-range phasing, homologous recombination deficiency, extrachromosomal DNA, personalized...
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