Bimal P. Chaudhari
Medical Genetics | Pediatrics | Neonatology
380 Butterfly Gardens Dr
Columbus, OH 43215
Columbus, OH 43215
Last Updated: 09/26/2026
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Found 51 publications
PheBee: A Graph-Aware System for Scalable, Traceable, and Semantic Phenotyping.
Journal: medRxiv : the preprint server for health sciences
Published: May 25, 2026
Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives.
Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives.
Journal: Circulation. Genomic and precision medicine
Published: February 10, 2026
The Fastest NICU Genome is One Completed (or at Least Coordinated) Prenatally: A Joint Perspective From United States-Based Maternal-Fetal Medicine and Neonatologist-Geneticists.
Journal: Clinical therapeutics
Published: January 29, 2026
Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications.
Journal: European journal of human genetics : EJHG
Published: December 17, 2025
Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients.
Journal: Translational pediatrics
Published: December 04, 2025
Fatal Congenital Toxoplasmosis with Progressive Liver Failure and Genomic Characterization of a Novel Isolate from the United States.
Journal: Microorganisms
Published: November 22, 2025
Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates.
Journal: Children (Basel, Switzerland)
Published: October 31, 2025
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
New genotype-phenotype correlations and management recommendations for individuals with RERE variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 15, 2025
Familial Isolated Tetralogy of Fallot Associated With JAG1 Variant: Justifying Phenotype-Agnostic Genetic Workup for Critical Congenital Heart Disease.
Journal: American journal of medical genetics. Part A
Published: September 03, 2025
Genetic Evaluation Practices for Neonates with Congenital Heart Disease in Pediatric Cardiac Intensive Care Units: Findings from a Multi-institutional Survey.
Journal: Pediatric cardiology
Published: August 27, 2025
Last Updated: 09/26/2026