A5102015892- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Advanced MRI Techniques and Applications
- Transcranial Magnetic Stimulation Studies
- Functional Brain Connectivity Studies
- Peptidase Inhibition and Analysis
- Ubiquitin and proteasome pathways
- Protein Tyrosine Phosphatases
- Motor Control and Adaptation
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Folate and B Vitamins Research
- RNA Research and Splicing
- Muscle activation and electromyography studies
- Neural dynamics and brain function
- RNA regulation and disease
- Nuclear Structure and Function
- Cardiac Structural Anomalies and Repair
- Congenital heart defects research
- Cancer-related gene regulation
- ATP Synthase and ATPases Research
- Connective tissue disorders research
- Genomics and Chromatin Dynamics
Duke University
2024
Ochsner Health System
2015-2022
Tulane University
2021
Ochsner Medical Center
2019-2021
The University of Queensland
2020
Montreal Children's Hospital
2019
McGill University
2019
University of Toronto
2019
Hospital for Sick Children
2019
Georgia Institute of Technology
2005-2011
<h3>Objective</h3> To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic <i>POLR1C</i> pathogenic variants. <h3>Methods</h3> A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical information collected on 23 unreported previously reported patients with POLR3-HLD variants in <i>POLR1C</i>. Brain MRI studies were reviewed. <h3>Results</h3> Fourteen female 9 male...
Abstract Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, protein complex governing eukaryotic cellular homeostasis. In our comprehensive study, we identified 23 unique variants in PSMC5 , which encodes AAA-ATPase proteasome subunit PSMC5/Rpt6, causing syndromic NDD 38 unrelated individuals. Overexpression altered human hippocampal neuron morphology, while knockdown led...
Congenital heart disease is the most common type of birth defect, accounting for one-third all congenital anomalies. Using whole-exome sequencing 2718 patients with and a search in GeneMatcher, we identified 30 from 21 unrelated families different ancestries biallelic phospholipase D1 (PLD1) variants who presented predominantly cardiac valve defects. We also associated recessive PLD1 isolated neonatal cardiomyopathy. Furthermore, established that p.I668F founder variant among Ashkenazi Jews...
PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA splicing. Until recently, no defined human phenotype had been associated with alterations this gene. We identified report cohort of seven patients either homozygous or compound heterozygous rare deleterious variants PTPN23. Combined four previously reported, total 11 disorder have now identified. expand phenotypic variation spectrum...
Protein arginine methyltransferase 7 (PRMT7) is a member of family enzymes that catalyzes the methylation residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes detailed clinical characteristics this syndrome. Thus, we aim to delineate phenotypic...
Abstract Exome or genome sequencing was performed to identify the genetic etiology for clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated families. A homozygous frameshift variant c.186delA (p.A63Qfs*3) NUDT2 gene identified cases 1 2 from one family a third case another family. Variants were previously shown cause but here we expand phenotype by demonstrating its association upper lower...
It is important to recognize the possibility of a syndromic etiology cardiac defects when dysmorphic features and other congenital are present. We report patient who presented with atrial fibrillation was found have an abnormal mitral valve, aneurysm left appendage, consistent both Cardiofaciocutaneous syndrome Noonan syndrome. The appendage previously unreported presentation for either Diagnostic considerations based upon his genotype phenotype discussed, along unique treatment.
This case series assesses the effects of five consecutive days low-frequency (1 Hz) repetitive transcranial magnetic stimulation (rTMS) with and without a 6-Hz primer. Although this paper studies able-bodied individuals, similar rTMS protocols are used to facilitate motor recovery in patients hemiplegia following stroke. However, cortical mechanisms associated repeated daily doses not completely understood.Four right-handed healthy volunteers (two men, aged 20-50 years) participated...
Homozygous and compound heterozygous pathogenic variants in RAB3GAP1 gene are implicated autosomal recessive Warburg micro syndrome 1 Martsolf 2. Developmental delay, intellectual disability, dysmorphic facial features, brain anomalies, hypermobile joints kyphoscoliosis among the clinical features of these rare diseases. WARBM1 manifestations include ophthalmologic, neurologic endocrine abnormalities. The hallmark ophthalmologic findings bilateral congenital cataracts, usually accompanied by...
Synchronized oscillations in resting state timecourses have been detected recent fMRI studies. These are low frequency nature (< 0.08 Hz), and seem to be a property of symmetric cortices. fluctuations important as potential signal interest, which could indicate connectivity between functionally related areas the brain. It has also shown that synchronized decrease some spontaneous pathological states. Thus, detection these functional patterns may help serve gauge normal brain activity. The...