Publications by authors named "B Gelb"
Purpose: Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non- RAS/mitogen-activated protein kinase genes (RASopathies).
Patients And Methods: Germline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n=469,802), Geisinger MyCode (n=167,050) and Mount Sinai Bio (n=30,470). Variants were classified as per American College of Medical Genetics/Association for Molecular Pathology criteria and reviewed by a RASopathy variant expert.
Article Synopsis
- - The study investigates laterality defects, focusing on the genetic variations linked to congenital heart disease (CHD) by analyzing sequencing data from three cohorts, uncovering a higher occurrence of digenic variants compared to control groups.
- - A digenic model involving 115 known laterality defect genes revealed significant rates of trans-heterozygous digenic variants in affected individuals, particularly in the Baylor, Kids First, and PCGC cohorts (ranging from 2.8% to 13.5%).
- - The results suggest that epistatic interactions between genes play a crucial role in the genetics of laterality defects, with 23% of identified digenic pairs found in structural complexes of motile
Article Synopsis
- The study highlights how underrepresentation in clinical genomics research diminishes the relevance of findings and benefits, particularly emphasizing the importance of diverse participant inclusion.
- Researchers implemented patient-centered, data-driven strategies, such as using relatable and flexible recruitment methods, to ensure a diverse sample of parents and children in a pediatric genome sequencing study.
- As a result, a high percentage of eligible participants agreed to enroll (93.5% acceptance) and the majority of those who enrolled completed the study, demonstrating the effectiveness of engaging with underrepresented communities.
Background: Kidney transplant (KT) candidates often experience hospitalizations, increasing their delirium risk. Hospitalizations and delirium are associated with worse post-KT outcomes, yet their relationship with pre-KT outcomes is less clear. Pre-KT delirium may worsen access to KT due to its negative impact on cognition and ability to maintain overall health.
View Article and Find Full Text PDFBackground: A deeper understanding of acute rejection in vascularized composite allotransplantation is paramount for expanding its utility and longevity. There remains a need to develop more precise and accurate tools for diagnosis and prognosis of these allografts, as well as alternatives to traditional immunosuppressive regimens.
Methods: Twenty-seven skin biopsies collected from 3 vascularized composite allotransplantation recipients, consisting of face and hand transplants, were evaluated by histology, immunohistochemistry staining, and gene expression profiling.