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Author Details

Bimal P Chaudhari
Nationwide Children's Hospital
2005
25
8
PMIDPaper TitleJournal TitlePublished Year
36355221Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"Hum Genet2023
37191361Genetic testing for diffuse lung diseases in children.Pediatr Pulmonol2023
37422715Provision and availability of genomic medicine services in Level IV neonatal intensive care units.Genet Med2023
37185208<i>ARF1</i>-related disorder: phenotypic and molecular spectrum.J Med Genet2023
37230770Perinatal-lethal nonimmune fetal hydrops attributed to <i>MECOM</i>-associated bone marrow failure.Cold Spring Harb Mol Case Stud2023
36861082A 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 Pediatr2023
35868725Congenital Brain Malformations: An Integrated Diagnostic Approach.Semin Pediatr Neurol2022
35718094A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.J Mol Diagn2022
35872606Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.Am J Med Genet C Semin Med Genet2022
35868729Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders.Semin Pediatr Neurol2022
34108641Relationship between physician prognosis bias and parental optimism bias.J Perinatol2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34476810Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.Clin Genet2021
34194468Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.Front Genet2021
31578042A pediatric perspective on genomics and prevention in the twenty-first century.Pediatr Res2020
32532881Early-onset Wilson disease caused by <i>ATP7B</i> exon skipping associated with intronic variant.Cold Spring Harb Mol Case Stud2020
2938944550 Years Ago in The Journal of Pediatrics: The Antepartum Diagnosis of Genetic Diseases.J Pediatr2018
22222548Increased risk for respiratory distress among white, male, late preterm and term infants.J Perinatol2012
21440297Placental pathologic aberrations in cases of familial idiopathic spontaneous preterm birth.Placenta2011
21533219An evolutionary genomic approach to identify genes involved in human birth timing.PLoS Genet2011
21304894Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.PLoS Genet2011
21184677Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth.BMC Med Genomics2010
19787044Considering usual medical care in clinical trial design.PLoS Med2009
19037974The genetics of birth timing: insights into a fundamental component of human development.Clin Genet2008
16284048What about proxies?Health Aff (Millwood)2005
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European Bioinformatics Institute
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Murdoch Children's Research Institute
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European Bioinformatics Institute
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