A5065898186- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Chromatin Remodeling and Cancer
- Cystic Fibrosis Research Advances
- Lysosomal Storage Disorders Research
- Respiratory Support and Mechanisms
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Genetic Syndromes and Imprinting
- Family and Disability Support Research
- Cancer Immunotherapy and Biomarkers
- Studies on Chitinases and Chitosanases
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- Spinal Cord Injury Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA modifications and cancer
- Fetal and Pediatric Neurological Disorders
- Metabolism and Genetic Disorders
- Neurofibromatosis and Schwannoma Cases
- Cancer, Stress, Anesthesia, and Immune Response
- Neonatal Health and Biochemistry
Shodair Children's Hospital
2023-2024
The University of Texas at Austin
2022-2024
Greenwood Genetic Center
2019-2022
Dell Children's Medical Center of Central Texas
2021-2022
University of Michigan
2022
National Institutes of Health
2019
Eunice Kennedy Shriver National Institute of Child Health and Human Development
2019
Abstract Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants the two genes that encode histone H3.3 ( H3-3A / H3F3A and H3-3B H3F3B ) [1–4]. This characterized developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative de novo heterozygous either or Here, we analyze data of 58 previously published...
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, caused deletion within chromosome 22q13.3. SHANK3, which located at the terminal end this region, has been repeatedly implicated in other disorders gene specifically thought to cause much neurologic symptoms characteristic PMS. However, it still unclear what extent SHANK3 deletions contribute PMS...
To better understand the landscape of female phenotypic expression in X-linked intellectual disability (XLID), we surveyed literature for carriers XLID gene alterations (n = 1098) and combined this with experience evaluating kindreds at Greenwood Genetic Center 341) University Adelaide 157). One-hundred forty-four genes were grouped into nine categories based on level expression, ranging from no to only expression. For each gene, clinical presentation, blood, X-inactivation (XI) pattern,...
Abstract Duplication of all genes associated with X‐linked intellectual disability (XLID) have been reported but the majority duplications include more than one XLID gene. It is exceptional for whole gene to cause same phenotype as sequence variants or deletions PLP1 , Pelizaeus‐Merzbacher syndrome, most notable duplication this type. More commonly, results in very different phenotypes alterations deletions. MECP2 widely recognized a type, number others exist. The are often milder those...
Mosaic variants in the PIK3CA gene, encoding catalytic subunit of phosphoinositide 3-kinase (PI3K), produce constitutive PI3K activation, which causes PIK3CA-related overgrowth spectrum disorders. To date, fewer than 20 patients have been described with germline alterations PIK3CA. In this study, we describe three unrelated individuals and variants. These were discovered through whole-exome sequencing confirmed as by testing multiple tissue types, when available. Functional analysis using...
Pathogenic variants in the CFTR gene are associated with congenital bilateral absence of vas deferens, hereditary pancreatitis, CFTR-related disorders, and autosomal recessive cystic fibrosis (CF). The most severe these is CF, a multisystem disorder characterized by obstructive pulmonary disease pancreatic insufficiency due to inability protein properly transport chloride ions. Cystic one common life-shortening inherited conditions United States, but its prevalence varies amongst ancestral groups.
Gaucher disease is a rare lysosomal storage disorder caused by deficiency in glucocerebrosidase. This enzyme leads to the accumulation of toxic metabolites various organs. Multiple subtypes this have been described; however, perinatal-lethal form extremely and challenging diagnose. We present case newborn girl with ichthyosis, petechiae, arthrogryposis, later found be homozygous for pathogenic variant glucocerebrosidase gene. highlights potential role dermatologists recognition disease.