Michael Briones

TL;DR: Genomically characterize serial samples from patients at diagnosis through relapse and transformation to acute myeloid leukemia to expand knowledge of the mutational spectrum in JMML and identified recurrent mutations in genes involved in signal transduction, splicing, Polycomb repressive complex 2 (PRC2) and transcription.

TL;DR: A high-throughput hydrogel based platelet-contraction cytometer is reported that quantifies single-platelet contraction forces in different clot microenvironments and shows that platelets, via the Rho/ROCK pathway, synergistically couple mechanical and biochemical inputs to mediate contraction.

TL;DR: 2 novel homozygous mutations in the KINDLIN3 gene of a new African-American patient that destabilize KINDlin3 mRNA leading to loss of kindlin-3 protein are described and highlighted functionally important regions of kindlins that alter leukocyte integrin-dependent function in 2 distinct ways.

TL;DR: The clinical presentations, diagnostic and imaging workups, and treatment options available for patients with Klippel-Trenaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular anomalies, epidermal nevi, and scoliosis/spinal deformities) syndrome, fibroadipose vascular anomaly, phosphatase and tensin homolog mutation spectrum, Parkes-Weber syndrome, and Proteus syndrome are reviewed.

TL;DR: The first case of an African‐American female infant with LAD‐III is presented, successfully treated with allogeneic bone marrow transplant using a reduced intensity‐conditioning regimen.