Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome.
Macke EL, Miller AR, Colwell CM, Gonzalez MH, Hunter J, Venkata LPR, Walker L, Wheeler G, Wilson RK, Mardis ER, Miller KE, Mathew MT, Chaudhari BP, Akkari Y.
Macke EL, et al. Among authors: chaudhari bp.
Am J Med Genet A. 2024 Nov 13:e63929. doi: 10.1002/ajmg.a.63929. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 39535355