Publications

Implementing customized genomic sequencing reports to empower providers in safety-net neonatal intensive care units

D'Gama AM, Douglas J, Hills S, Wojcik MH, Genetti CA, Verran AS; VIGOR Network; Parker MG, Yu TW, Agrawal PB. Implementing customized genomic sequencing reports to empower providers in safety-net neonatal intensive care units. Genet Med. 2025 Nov;27(11):101554. doi: 10.1016/j.gim.2025.101554. Epub 2025 Aug 13. PMID: 40817795.

PMID: 40817795

New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2

Schnur RE, Dvořáček L, Kalsner L, Shapiro FL, Grebeňová D, Yanni D, Wasserman BN; VIGOR; Dyer LM, Antonarakis SE, Kuželová K. New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2. Clin Genet. 2024 Oct;106(4):518-524. doi: 10.1111/cge.14578. Epub 2024 Jun 18. PMID: 38894571.

PMID: 38894571

"It's hard to wait": Provider Perspectives on Current Genomic Care in Safety-Net NICUs

D'Gama, A. M., Wojcik, M. H., Hills, S., Douglas, J., VIGOR Network, Yu, T. W., Agrawal, P. B., & Parker, M. G. (2024). "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. Genetics in medicine : official journal of the American College of Medical Genetics, 26(9), 101177. https://doi.org/10.1016/j.gim.2024.101177

PMID: 38855852

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

D'Gama AM, Hills S, Douglas J VIGOR Network, et al Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. BMJ Open 2024;14:e080529. doi: 10.1136/bmjopen-2023-080529

PMID: 38320840