Bimal P Chaudhari - Biomedical Science, Creighton University School of Medicine

基本信息

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职业迁徙

个人简介

My interest is in critical care of neonates with congenital anomalies as well the acute and critical care of all patients with known or suspected genetic disorders. My research focuses on integration of genomic testing methodologies into non-geneticist clinician workflows via the electronic health record to provide precision medicine to this high-risk population.

研究兴趣

论文共 75 篇作者统计合作学者相似作者

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Advances in Genetic Testing of Neurologically Abnormal Neonates in the Neonatal Intensive Care Unit

William Burns, Darrah Haffner,Bimal P Chaudhari

Clinics in perinatologyno. 2 (2025): 271-288

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Feasibility of Newborn Screening for Pyridoxine-Dependent Epilepsy

Kristine Pauly,Michael Woontner,Jose E. Abdenur,Bimal P. Chaudhari,Rachel Gosselin,Kimberly A. Kripps,Janet A. Thomas,Michael F. Wempe, Sidney M. Gospe Jr,Curtis R. Coughlin Ii

MOLECULAR GENETICS AND METABOLISMno. 1 (2025)

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A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

Brandon S Stone,Swetha Ramadesikan, Regan McGinley, Scott E Hickey, Leeran B Dublin-Ryan, Steven I Estes, Victoria A Elliott, Benjamin Karabasz,Jesse M Hunter,Bimal P Chaudhari,Richard K Wilson, Daniel C Koboldt

American journal of medical genetics Part App.e64131-e64131, (2025)

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Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

Alanna Strong, Caoimhe McKenna,Karen Stals,Antonio Vitobello, Mathilde Renaud,Claudine Rieubland,Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell,A Micheil Innes, Alyssa L Rippert, Rebecca Ahrens-Nicklas,Elizabeth Bhoj, Kiersten Keller,Bimal P Chaudhari, Brandon S Stone

American journal of medical genetics Part App.e64119-e64119, (2025)

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Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes

Tara L Wenger,K Taylor Wild, Isabella Zaniletti, Elaine H Zackai,Janet Lioy, Cory M Resnick,Bimal P Chaudhari,S Alex Rottgers, Jeffrey Goldstein, Raj Vyas, Irfan Ahmad, Carl H Coghill, Semsa Gogcu, Kuan-Chi Lai,Christopher M Cielo,Michael A Padula, Children's Hospitals Neonatal Consortium Micrognathia Focus Group

The Journal of pediatrics (2025): 114614-114614

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22: A Case of Partial Trisomy 13 Not Detected on Prenatal Cfdna Screen

Laura Bryant,Mari Mori,Bimal P. Chaudhari, Michael Zinmeister, Nathan Johnson, Elizabeth Hamelberg, Kimberly Wetherell, Don Roman, Jeffrey Wobser, Joon Kim, Matthew Meleski, Veronica Reher,Shalini C. Reshmi, Jason P. Garee,Jesse Hunter,Catherine Cottrell,Marco Leung, Taylor Porter,Theodora Matthews,Yassmine Akkari

Genetics in Medicine Open (2025): 101939

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Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients