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Human Genetics
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November 10, 2022
Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"
Monica H Wojcik, Kristen P Fishler, Bimal P Chaudhari
Clinics in Perinatology
|
August 24, 2025
The Emerging Role of Genome Sequencing in Newborn Screening
Bimal P Chaudhari, William Burns, Emily Messick, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 9, 2024
NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates
Austin A Antoniou, Regan McGinley, Marina Metzler, et al.
Frontiers in Pediatrics
|
March 2, 2023
A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD-A call to focus on the basics while utilizing advanced new therapies
Marina Metzler, William Burns, Carly Mitchell, et al.
Pediatric Research
|
November 8, 2024
Promises and challenges of genomic newborn screening (NBS) - lessons from public health NBS programs
Mari Mori, Bimal P Chaudhari, Margie A Ream, et al.
Frontiers in Genetics
|
July 1, 2021
Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report
Andrew D Franklin, Bimal P Chaudhari, Daniel C Koboldt, et al.
Scientific Reports
|
September 27, 2024
CNVoyant a machine learning framework for accurate and explainable copy number variant classification
Robert J Schuetz, Defne Ceyhan, Austin A Antoniou, et al.
Research Square
|
May 15, 2024
CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number Variants
Robert J Schuetz, Defne Ceyhan, Austin A Antoniou, et al.
Seminars in Perinatology
|
June 15, 2025
An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis
Kaiulani S Shulman, Kristen Fishler Malone, Hadley Stevens Smith, et al.
Research Square
|
May 19, 2025
Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients
Angela C Onorato, Rachel Gosselin, Bimal P Chaudhari, et al.
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Search research articles
Search
Showing results (11-20 of 49) with videos related to
Sort By:
Page
of 5
Human Genetics
|
November 10, 2022
Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"
Monica H Wojcik, Kristen P Fishler, Bimal P Chaudhari
Clinics in Perinatology
|
August 24, 2025
The Emerging Role of Genome Sequencing in Newborn Screening
Bimal P Chaudhari, William Burns, Emily Messick, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 9, 2024
NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates
Austin A Antoniou, Regan McGinley, Marina Metzler, et al.
Frontiers in Pediatrics
|
March 2, 2023
A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD-A call to focus on the basics while utilizing advanced new therapies
Marina Metzler, William Burns, Carly Mitchell, et al.
Pediatric Research
|
November 8, 2024
Promises and challenges of genomic newborn screening (NBS) - lessons from public health NBS programs
Mari Mori, Bimal P Chaudhari, Margie A Ream, et al.
Frontiers in Genetics
|
July 1, 2021
Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report
Andrew D Franklin, Bimal P Chaudhari, Daniel C Koboldt, et al.
Scientific Reports
|
September 27, 2024
CNVoyant a machine learning framework for accurate and explainable copy number variant classification
Robert J Schuetz, Defne Ceyhan, Austin A Antoniou, et al.
Research Square
|
May 15, 2024
CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number Variants
Robert J Schuetz, Defne Ceyhan, Austin A Antoniou, et al.
Seminars in Perinatology
|
June 15, 2025
An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis
Kaiulani S Shulman, Kristen Fishler Malone, Hadley Stevens Smith, et al.
Research Square
|
May 19, 2025
Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients
Angela C Onorato, Rachel Gosselin, Bimal P Chaudhari, et al.
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of 5