Bimal P. Chaudhari
Biochemistry, Genetics and Molecular Biology · The Ohio State University
Publications
85
Citations
1,140
Est. group size
~5
Recurring co-author estimate
Active years
22
Publishing since 2005
Bimal P. Chaudhari's research focuses on genetic disease diagnosis in newborns and infants, particularly in neonatal intensive care settings. This work spans rapid genome and genomic sequencing for diagnosing rare genetic conditions, machine learning tools to help classify genetic variants, and the ethical and social questions raised by expanding genetic testing in newborns. The research combines clinical genetics with data science approaches to improve how quickly and accurately genetic diseases are identified in critically ill infants.
Publication output has grown substantially over the last decade, rising from occasional papers before 2021 to a sustained pace of over a dozen publications per year from 2022 onward.
Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026
- New genotype-phenotype correlations and management recommendations for individuals with RERE variants
Genetics in Medicine · 2026
- Tiny Babies, Big Data: ICD Billing Code Patterns in Neonates Diagnosed with Genetic Disease in the Neonatal Intensive Care Unit
medRxiv · 2026
- Genomic newborn screening: a scoping review of the field’s evolution and associated ethical, legal, and social implications
European Journal of Human Genetics · 2026
- Truncating Variants in <scp><i>RREB1</i></scp> Cause a Novel <scp>RASopathy</scp> Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay
American Journal of Medical Genetics Part A · 2025
- An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis
Seminars in Perinatology · 2025
- Genomic Newborn Screening: A Scoping Review of the Field’s Evolution and Associated Ethical, Legal, and Social Implications
SSRN Electronic Journal · 2025
- P545: Examining sociodemographic factors associated with genomic research participation: Evidence from a pediatric rapid sequencing study
Genetics in Medicine Open · 2025
- Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes
The Journal of Pediatrics · 2025
- Knowledge-Practice Gaps in Genetics—Guidelines and Payer Coverage Are Not Enough
JAMA Network Open · 2025
- Prematurity and Delayed Diagnosis of Down Syndrome
Pediatrics Open Science · 2025
- Feasibility of newborn screening for pyridoxine-dependent epilepsy
Molecular Genetics and Metabolism · 2024
- Ethical and Legal Issues Surrounding Genetic Testing in the NICU
NeoReviews · 2024
- CNVoyant a machine learning framework for accurate and explainable copy number variant classification
Scientific Reports · 2024
- CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation
Human Mutation · 2024
- CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number Variants
Research Square · 2024
- Genetics in Medicine Open×10
- Genetics in Medicine×5
- Molecular Genetics and Metabolism×4
- American Journal of Medical Genetics Part A×4
- medRxiv×3
- Dennis W. Bartholomew
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Danielle Mouhlas
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Kristen Suhrie
Biochemistry, Genetics and Molecular Biology · Indiana University
- Ying‐Chen Claire Hou
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Marco L. Leung
Biochemistry, Genetics and Molecular Biology · The Ohio State University
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 19, 2026.
Claim or correct this profile