Publications

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 AM, Wojcik MH, Hills S, Douglas J; VIGOR Network; Yu TW, Agrawal PB, Parker MG. "It's hard to wait": Provider Perspectives on Current Genomic Care in Safety-Net NICUs. Genet Med. 2024 Jun 6:101177. doi: 10.1016/j.gim.2024.101177. Epub ahead of print.

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