Related Experiment Video
Updated: Jul 2, 2026

Hemodynamic Precision in the Neonatal Intensive Care Unit using Targeted Neonatal Echocardiography
Published on: January 27, 2023
Functional studies in a neonate with a DOCK11 VUS guide clinical care
Patrick O'Connell1,2,3,4, Conor Gruber2,3,4, Sofija Buta-Panov3,4
1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
None:
O'Connell et al. demonstrate that negative functional studies can meaningfully guide care. In a neonate with a DOCK11 variant of uncertain significance, negative functional studies guide clinical care and highlight the broader value of publishing instructive negative findings in immunology and genomic medicine.
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