Samir Al-Ali, Lauren Jeffries, E Vincent S Faustino, Weizhen Ji, Emily Mis, Monica Konstantino, Cynthia Zerillo, Yong-Hui Jiang, Michele Spencer-Manzon, Allen Bale, Hui Zhang, Julie McGlynn, James M McGrath, Thierry Tremblay, Nina N Brodsky, Carrie L Lucas, Richard Pierce, Engin Deniz, Mustafa K Khokha, Saquib A Lakhani
The Pediatric Genomics Discovery Program (PGDP) at Yale uses next-generation sequencing (NGS) and translational research to evaluate complex patients with a wide range of phenotypes suspected to have rare genetic diseases. We conducted a retrospective cohort analysis of 356 PGDP probands evaluated between June 2015 and July 2020, querying our database for participant demographics, clinical characteristics, NGS results, and diagnostic and research findings. The three most common phenotypes among the entire studied cohort (n = 356) were immune system abnormalities (n = 105, 29%), syndromic or multisystem disease (n = 103, 29%), and cardiovascular system abnormalities (n = 62, 17%)...
July 28, 2022: American Journal of Medical Genetics. Part A