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Papers共 75 篇Author StatisticsCo-AuthorSimilar Experts

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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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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
Angela C Onorato, Rachel Gosselin,Bimal P Chaudhari, Chance Alvarado,Peter White,Vidu Garg,Amee M Bigelow
Research square (2025)
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Early Neonatal Fosdenopterin Treatment for Molybdenum Cofactor Deficiency Type A: New Insights into Its Natural History and Potential Role for Fetal Therapy
Adolfo Etchegaray, Darrah Haffner, Stephanie M Cruz, Oluseyi Ogunleye, Jason Xia, Amy Schlegel,Oluyinka O Olutoye,Bimal P Chaudhari
Journal of clinical medicineno. 10 (2025)
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An End to Genetic Exceptionalism: Reframing the Ethics of Genomic Sequencing for Rapid Neonatal Diagnosis
Kaiulani S Shulman, Kristen Fishler Malone, Hadley Stevens Smith,Bimal P Chaudhari,Monica H Wojcik
Seminars in perinatologypp.152110-152110, (2025)
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NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates
Austin A Antoniou, Regan McGinley,Marina Metzler,Bimal P Chaudhari
medRxiv the preprint server for health sciences (2024)
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Author Statistics

#Papers: 74

#Citation: 634

H-Index: 10

G-Index: 25

Sociability: 6

Diversity: 2

Activity: 24

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