Publications by authors named "V Jobanputra"
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.
Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.
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- - The most common types of liposarcomas are well-differentiated and dedifferentiated liposarcomas, usually found in the deep retroperitoneum or extremities, while atypical lipomatous tumors (ALT) are rare and less studied when located superficially.
- - A case study of a 54-year-old man revealed an ALT on his left upper back that had unusual characteristics, including significant pleomorphism and specific gene amplifications, which sets it apart from typical ALT cases reported.
- - The report discusses the diagnostic process and histopathological findings of the tumor, while providing an overview of different liposarcoma subtypes and management strategies.
Objective: To evaluate the technical accuracy, inheritance, and pathogenicity of small copy number variants (CNVs) detected by a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) platform.
Design: Retrospective observational study performed between 2020 and 2022.
Setting: Clinic.
Background: Shortened telomere length (TL) is a genomic risk factor for fibrotic interstitial lung disease (ILD), but its role in clinical management is unknown.
Research Question: What is the clinical impact of TL testing on the management of ILD?
Study Design And Methods: Patients were evaluated in the Columbia University ILD clinic and underwent Clinical Laboratory Improvement Amendments-certified TL testing by flow cytometry and fluorescence in situ hybridization (FlowFISH) as part of clinical treatment. Short TL was defined as below the 10th age-adjusted percentile for either granulocytes or lymphocytes by FlowFISH.