A5013658414- Alcoholism and Thiamine Deficiency
- Obsessive-Compulsive Spectrum Disorders
- RNA modifications and cancer
- Epilepsy research and treatment
- Diet and metabolism studies
- Genomics and Rare Diseases
- Moyamoya disease diagnosis and treatment
- Cerebral Venous Sinus Thrombosis
- Psychosomatic Disorders and Their Treatments
- Bacterial Infections and Vaccines
- Cellular transport and secretion
- Infectious Encephalopathies and Encephalitis
- Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Child Nutrition and Feeding Issues
- RNA Research and Splicing
- Eating Disorders and Behaviors
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Intracranial Aneurysms: Treatment and Complications
- Neurological Complications and Syndromes
- Vascular Malformations Diagnosis and Treatment
- Lysosomal Storage Disorders Research
- Migraine and Headache Studies
- Neurological and metabolic disorders
- Advanced biosensing and bioanalysis techniques
Harvard University
2014-2024
Boston Children's Hospital
2024
Massachusetts General Hospital
2014-2024
The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding subunit 27, 16 patients from 11 families with novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures...
Abstract MED27 is a subunit of the Mediator multiprotein complex, which involved in transcriptional regulation. Biallelic variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate clinical phenotype MED27-related disease by characterizing radiological features 57 affected individuals from 30 unrelated families biallelic variants. Using exome sequencing extensive...
Gangliosidoses are a group of rare lysosomal storage diseases (LySD) involving the accumulation lipids in multiple organ systems, including central and peripheral nervous systems. These disorders inherited an autosomal recessive pattern broadly grouped into 2 types. GM1 gangliosidoses (GM1) due to deficiency enzyme β-galactosidase, GM2 (Tay-Sachs, AB variant, Sandhoff disease) β-hexosaminidase. GM1, first described biochemically by Dr. John S. O'Brien 1960s, is estimated occur 1...
PurposeWe sought to delineate the genotypic and phenotypic spectrum of female male individuals with X-linked, MSL3-related disorder (Basilicata–Akhtar syndrome).MethodsTwenty-five (15 males, 10 females) causative variants in MSL3 were ascertained through exome or genome sequencing at ten different centers.ResultsWe identified multiple variant types (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, multi-exon deletion), most proven be de novo, clustering...
A 12-year-old boy with autism complicated by developmental delay, selective eating, and toe walking was admitted to the hospital because of decreased vision in both eyes. diagnosis made.
Pediatric cerebral aneurysms are rare, and pediatric anterior choroidal artery very rarely reported. A 14-month-old male with no personal or family history of connective tissue disorders Moyamoya disease presented a right temporal intracerebral hemorrhage intraventricular extension. CTA was negative for vascular pathology, but digital subtraction angiography revealed an aneurysm that successfully coiled. This case underscores the importance performing in children presenting concerning...
To investigate whether the prevalence of functional tic disorders in children increased during COVID-19 pandemic and to identify clinical features consistent with versus organic disorders.