A5103219683- Genomics and Rare Diseases
- Congenital Diaphragmatic Hernia Studies
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
- Metabolism and Genetic Disorders
- Pharmaceutical studies and practices
- Prenatal Screening and Diagnostics
- Esophageal and GI Pathology
- Cancer Genomics and Diagnostics
- Foreign Body Medical Cases
- Obstructive Sleep Apnea Research
- Neonatal and fetal brain pathology
- Immunodeficiency and Autoimmune Disorders
- Neonatal Health and Biochemistry
- Mitochondrial Function and Pathology
- Pediatric Pain Management Techniques
- Neuroscience of respiration and sleep
- Biotin and Related Studies
- Oral and gingival health research
- Antibiotics Pharmacokinetics and Efficacy
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
Indiana University School of Medicine
2022-2024
Indiana University – Purdue University Indianapolis
2022-2024
Riley Hospital for Children
2022-2023
Cincinnati Children's Hospital Medical Center
2018-2023
Indiana University
2022
University of Cincinnati Medical Center
2018-2022
Children's Hospital & Medical Center
2022
University of Cincinnati
2020
Importance Genomic testing in infancy guides medical decisions and can improve health outcomes. However, it is unclear whether genomic sequencing or a targeted neonatal gene-sequencing test provides comparable molecular diagnostic yields times to return of results. Objective To compare outcomes with those test. Design, Setting, Participants The Medicine for Ill Neonates Infants (GEMINI) study was prospective, comparative, multicenter 400 hospitalized infants younger than 1 year age (proband)...
<h3>Importance</h3> A targeted genomic sequencing platform focused on diseases presenting in the first year of life may minimize financial and ethical challenges associated with rapid whole-genomic sequencing. <h3>Objective</h3> To report interim variants interpretations an ongoing study comparing a novel composed 1722 actionable genes targeting disorders infancy. <h3>Design, Setting, Participants</h3> The Genomic Medicine Ill Neonates Infants (GEMINI) is prospective, multicenter clinical...
Abstract The neonatal period is a peak time for the presentation of genetic disorders that can be diagnosed using whole genome sequencing (WGS). While any one disorder individually rare, they collectively contribute to significant morbidity, mortality, and health-care costs. As cost WGS continues decline becomes increasingly available, ordering rapid NICU patients with signs or symptoms an underlying condition now feasible. However, many clinicians are not comfortable testing, unfortunately,...
Abstract Limited knowledge exists about how frequently newborns with Down syndrome receive a prenatal diagnosis, require intensive care, and what surgical medical factors are contributory. A retrospective cohort study was performed for patients diagnosis of born in 2013 2014 who sought care at Cincinnati Children's Hospital Medical Center during the first year life. Data were extracted from electronic record through life including need as newborn, complications. Of 129 study, 65% required...
OBJECTIVE The authors of this study aimed to evaluate the use polysomnography (PSG) in children with Down syndrome (DS) between ages 0 and 7 years, assess prevalence severity obstructive sleep apnea (OSA) associated comorbidities, describe interventions used for OSA. METHODS A retrospective cohort was performed at Cincinnati Children’s Hospital Medical Center DS born 2013 2019. Data were extracted from electronic medical record, including demographics, age PSG, PSG results, after an abnormal...
Abstract Increasing use of unbiased genomic sequencing in critically ill infants can expand understanding rare diseases such as Kabuki syndrome (KS). Infants diagnosed with KS through genome‐wide performed during the initial hospitalization underwent retrospective review medical records. Human phenotype ontology terms used analysis were aggregated and analyzed. Clinicians surveyed regarding changes management other care changes. Fifteen met inclusion criteria. was not suspected prior to...
Objective Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) has a reported incidence of 1 in 3500 live births and requires intensive care surgery. To evaluate the prevalence molecularly confirmed genetic etiology EA/TEF level IV neonatal unit (NICU), focusing on evaluation, diagnostic yield, clinical outcomes these neonates. Study design A retrospective cohort study over period seven years was performed for all patients admitted diagnosis EA/TEF. Automated data extracted...
Biallelic pathogenic variants in
Abstract Introduction Individuals with Down syndrome (DS) have high rates of sleep-disordered breathing and demonstrate more severe manifestations obstructive sleep apnea (OSA) compared non-syndromic patients. The consequences untreated OSA in childhood include pulmonary hypertension, cognitive dysfunction, abnormal growth. American Academy Pediatrics recommends that children DS a study by age four years. It is unclear if these guidelines are sufficient to address the burden disease very...