2 documents found, page 1 of 1
COVID- 19 in Patients Affected by Red Blood Cell Disorders, Results From the Eu...
Puyo, Pablo; Christou, Soteroula; Campisi, Saveria; Rodríguez-Sánchez, Maria A; Reidel, Sara; Perez-Hoyo, Santiago; Mota, Miriam; Savvidou, IreneBackground: Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID- 19. The ERN-EuroBloodNet's registry provided real-time registration of SARS-CoV- 2 patients with RBCD, promoting timely disease-specific knowledge sharing during the pandemic's early stages. Procedures: The study evaluated patient...
The genomic landscape of balanced cytogenetic abnormalities associated with hum...
Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, VamseeDespite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting t...