Cecilia M. Goueli, LGC

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. Laboy Cintron, D; Muir, AM; Scott, A; Mcdonald, M; Monaghan, KG; Santiago-Sim, T; Wentzensen, IM; De Luca, C; Brancati, F; Harris, DJ; Goueli, C; Stottmann, R; Prada, CE; Biderman Waberski, M; Mefford, HC. HGG Advances. 2022; 3(1):100072.

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis. Thapa, M; Asamoah, A; Gowans, GC; Platky, KC; Barch, MJ; Mouchrani, P; Rajakaruna, C; Hersh, JH. American Journal of Medical Genetics, Part A. 2014; 164A(4):1069-1074.