Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data

Autor: Mistry, Nipun A., Roellinger, Samantha E., Manninen, Matthew C., Gandham, Mallika, Koganti, Tejaswi, Balan, Jagadheshwar, Basu, Shubham, Blake, Emily J., Tandale, Pratyush P., Holdren, Megan A., Hoenig, Megan F., Urban, Rhianna M., Veith, Rebecca L., Kendzior, Matthew C., Wang, Chen, Gupta, Sounak, Shen, Wei

Publikováno v: In The Journal of Molecular Diagnostics September 2024 26(9):843-850

P086: Mosaic Li-Fraumeni syndrome identified in patient with a previously presumed germline variant following preimplantation genetic testing: A case report

Autor: Urban, Rhianna, Holdren, Megan, Hoenig, Megan, Rust, Laura, Wick, Myra, Ferber, Matthew, Niu, Zhiyv, Gupta, Sounak, Shen, Wei

Publikováno v: In Genetics in Medicine Open 2023 1(1) Supplement

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Unique plasma metabolite signature for adolescents with Klinefelter syndrome reveals altered fatty acid metabolism.

Autor: Davis SM; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA., Urban R; Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., D'Alessandro A; Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA., Reisz JA; Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA., Chan CL; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Kelsey M; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Howell S; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA., Tartaglia N; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA., Zeitler P; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA., Baker Ii P; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.

Publikováno v: Endocrine connections [Endocr Connect] 2023 Apr 06; Vol. 12 (5). Date of Electronic Publication: 2023 Apr 06 (Print Publication: 2023).