A5015442291- Genomics and Rare Diseases
- Fetal and Pediatric Neurological Disorders
- Prenatal Screening and Diagnostics
- Lysosomal Storage Disorders Research
- BRCA gene mutations in cancer
- Endoplasmic Reticulum Stress and Disease
- Cellular transport and secretion
- Ubiquitin and proteasome pathways
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Mentoring and Academic Development
- Service-Learning and Community Engagement
- RNA regulation and disease
- Neurological diseases and metabolism
- Congenital heart defects research
- Peroxisome Proliferator-Activated Receptors
- Parvovirus B19 Infection Studies
- Cancer, Hypoxia, and Metabolism
- Lipid Membrane Structure and Behavior
- Bacterial Identification and Susceptibility Testing
- Ethics in Clinical Research
- RNA Research and Splicing
- Teratomas and Epidermoid Cysts
Children's Hospital of New Orleans
2024
Cincinnati Children's Hospital Medical Center
2011-2023
University of Cincinnati Medical Center
2011-2022
University of Cincinnati
2008-2019
University Hospital Regensburg
2010
University of Regensburg
2010
Objective To determine the cause and course of a novel syndrome with progressive encephalopathy brain atrophy in children. Methods Clinical whole-exome sequencing was performed for global developmental delay intellectual disability; some patients also had spastic paraparesis evidence clinical regression. Six were identified de novo missense mutations kinesin gene KIF1A. The predicted functional disruption these assessed silico to compare calculated conformational flexibility estimated...
ABSTRACT Objective The purpose of this study was to describe the relationship between intracranial and extracranial anomalies neurodevelopmental outcome for fetuses diagnosed with a posterior fossa anomaly (PFA) on fetal MRI. Methods Cases Dandy–Walker malformation, vermian hypogenesis/hypoplasia, mega cisterna magna (MCM) were identified through Fetal Care Center Cincinnati January 2004 December 2010. Parental interview retrospective chart review used assess outcome. Results Posterior in 59...
Abstract We describe a case of GNAO1‐associated epilepsy and chorea in patient with de novo pathogenic mutation. This is unique being the first reported male this phenotype, we propose that genetic variant may represent mutation hotspot characterizes phenotype. 5.2‐years‐old boy presented seizures, chorea, severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal discharges, along generalized‐onset seizures. Genetic...
Central nervous system comorbidities have been identified in patients with epilepsy. Several of these correlated poor surgery outcomes patient cohorts. The authors sought to determine if prevalence pediatric epilepsy and their families correlate long-term seizure outcome a cross-sectional analysis. Three-generation pedigrees were elicited compare family history epilepsy, ADHD, anxiety, autism, bipolar disorder, cognitive disability, depression, migraine, motor disability 52 patients....
We report a novel presentation of childhood cerebral X-linked adrenoleukodystrophy: status epilepticus followed by abrupt and catastrophic neurologic deterioration.A description the clinical presentation, laboratory evaluation, imaging findings leading to diagnosis adrenoleukodystrophy.A 3-year-old male with prior history autism presented fever, diarrhea, requiring pentobarbital coma. Admission labs were notable only for glucose level 22 mg/dL, which stabilized after correction. The child...
Microarray testing has revolutionized clinical cytogenetics, as it provides a significantly higher resolution and greater yield than karyotype analysis. This study assessed the utility of single-nucleotide polymorphism microarray in patients with epilepsy. Study subjects were between ages birth to 23 years who diagnosed epilepsy had performed at Cincinnati Children’s Hospital Medical Center. Statistical analysis explored association results brain magnetic resonance imaging (MRI), seizure...
Non-centrosomal microtubules are essential cytoskeletal filaments that important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family of molecules. Using exome sequencing on samples from five unrelated families, we show bi-allelic CAMSAP1 loss-of-function variants cause a clinically recognizable, syndromic migration disorder. The cardinal clinical features syndrome include...
Abstract The paper‐based pedigree is the current standard for family health history (FHH) documentation in genetic counseling. Several tools electronic capture of data have been developed to improve re‐use and accessibility, quality standardization, ease updating, integration with medical records. One such tool, tablet‐based Proband application, provides a flexible approach dynamic diverse clinical settings. This study compared FHH collection methods investigated usability setting. After one...
This study provides prenatal characteristics and postnatal outcomes of patients with severe cervical scoliosis.A retrospective analysis clinical information from cases prenatally diagnosed scoliosis (>90° angulation) in the Fetal Care Center at Cincinnati Children's Hospital Medical between 2007 2010 was performed. We excluded iniencephaly tumors head or neck.We identified five scoliosis. The fetal spine abnormality 18 27 weeks gestation. Classical cesarean section recommended all patients....
The nuclear factor I/B (NFIB) gene is part of the I (NFI) family transcription factors which are important for development brain and other organ systems. A 2018 study 18 individuals with haploinsufficiency NFIB identified a recognizable phenotype known as Macrocephaly, Acquired, Impaired Intellectual Development (MACID; OMIM 618286). Features include macrocephaly, mild to moderate intellectual disability, neurodevelopmental disorders non-distinct facial features. We present first reported...
A gendered pay gap in the genetic counseling profession has been identified recent years, though reasons for its existence have not explored depth. The primary aim of this study was to determine what demographic characteristics and career experiences influence annual salary rates which those factors differ between male female counselors. secondary whether counselors perceive a identify attitudes toward their salaries. Surveys were sent nearly 4,000 who are members National Society Genetic...
Prenatal identification by magnetic resonance imaging (MRI) of callosal anomalies, particularly with accompanying intracranial abnormalities, poses a challenge for accurate prognostication and fetal counseling as outcome can vary widely depending on underlying etiology. In female patients, Aicardi syndrome is an important consideration, prompt postnatal ophthalmologic assessment to identify ocular stigmata aid anticipatory guidance greater vigilance seizures. We present case MRI findings...
Recently, studies on whole-exome sequencing (WES) of large cohorts people with periventricular heterotopia (PVH) have reported an association loss-of-function variants in the MAP1B gene. However, neurological phenotypes these patients remain poorly characterized. Four family members seizures beginning early childhood were evaluated. Integrated genomic analysis WES and microarray was performed. Affected had various combinations of: febrile, fever-triggered afebrile seizures;...
ABSTRACT Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants VCP are associated with adult-onset multisystem proteinopathy (MSP) presents myopathy, bone disease, dementia, and/or motor neuron disease. Through GeneMatcher, we identified 13 unrelated individuals who carry novel heterozygous (12 de novo , 1 inherited) a childhood-onset disorder characterized by developmental delay,...
Abstract Cincinnati Children's Hospital Medical Center (CCHMC) implemented a Genetic Counseling Clinic (GCC), where the appointment for general genetics indication is conducted solely by genetic counselor (GC). We retrospective chart review of 211 patient encounters scheduled in GCC between January 1, 2022 and June 30, collected demographics, wait time, characteristics, referral indication, clinical recommendations. To study impact on access, we compared demographics characteristics with 912...