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Author Details
Full Name
Bimal P Chaudhari
Affiliation
Nationwide Children's Hospital
ORCID
Career Start Year
2005
Papers
25
H Index
8
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36355221
Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"
Hum Genet
2023
37191361
Genetic testing for diffuse lung diseases in children.
Pediatr Pulmonol
2023
37422715
Provision and availability of genomic medicine services in Level IV neonatal intensive care units.
Genet Med
2023
37185208
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum.
J Med Genet
2023
37230770
Perinatal-lethal nonimmune fetal hydrops attributed to <i>MECOM</i>-associated bone marrow failure.
Cold Spring Harb Mol Case Stud
2023
36861082
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.
Front Pediatr
2023
35868725
Congenital Brain Malformations: An Integrated Diagnostic Approach.
Semin Pediatr Neurol
2022
35718094
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
J Mol Diagn
2022
35872606
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet
2022
35868729
Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders.
Semin Pediatr Neurol
2022
34108641
Relationship between physician prognosis bias and parental optimism bias.
J Perinatol
2021
35072136
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell Genom
2021
34476810
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Clin Genet
2021
34194468
Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.
Front Genet
2021
31578042
A pediatric perspective on genomics and prevention in the twenty-first century.
Pediatr Res
2020
32532881
Early-onset Wilson disease caused by <i>ATP7B</i> exon skipping associated with intronic variant.
Cold Spring Harb Mol Case Stud
2020
29389445
50 Years Ago in The Journal of Pediatrics: The Antepartum Diagnosis of Genetic Diseases.
J Pediatr
2018
22222548
Increased risk for respiratory distress among white, male, late preterm and term infants.
J Perinatol
2012
21440297
Placental pathologic aberrations in cases of familial idiopathic spontaneous preterm birth.
Placenta
2011
21533219
An evolutionary genomic approach to identify genes involved in human birth timing.
PLoS Genet
2011
21304894
Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
PLoS Genet
2011
21184677
Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth.
BMC Med Genomics
2010
19787044
Considering usual medical care in clinical trial design.
PLoS Med
2009
19037974
The genetics of birth timing: insights into a fundamental component of human development.
Clin Genet
2008
16284048
What about proxies?
Health Aff (Millwood)
2005
1 - 25 of 25
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