Chaya N. Murali
A5052643697- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Metabolism and Genetic Disorders
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Family and Disability Support Research
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- CRISPR and Genetic Engineering
- Congenital Heart Disease Studies
- RNA modifications and cancer
- Amino Acid Enzymes and Metabolism
- Vitamin K Research Studies
- Hip disorders and treatments
- Craniofacial Disorders and Treatments
- Neurological diseases and metabolism
- Iron Metabolism and Disorders
- Child Nutrition and Feeding Issues
- Prenatal Screening and Diagnostics
- Renal and related cancers
- Diet and metabolism studies
- Electrolyte and hormonal disorders
- Alcoholism and Thiamine Deficiency
- Cardiomyopathy and Myosin Studies
Baylor College of Medicine
2011-2025
Texas Children's Hospital
2019-2024
University of Sfax
2024
University of Pavia
2024
University of Antwerp
2024
Baylor Genetics
2024
deCODE Genetics (Iceland)
2024
American College of Medical Genetics
2023
Children's Hospital of Philadelphia
2018-2021
University of Pennsylvania
2019
Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA abnormalities have been inconsistent, which may complicate clinical interpretation abnormal testing results and hinder a more complete understanding genotype-phenotype relationships. Methods Results Patients CHD were accrued from 9 pediatric centers. Highly detailed systematically classified...
Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders and epilepsy. Here, we describe 14 individuals with de novo disruptive BSN , which encodes the presynaptic protein Bassoon. To expand phenotypic spectrum, identified 15 additional protein-truncating (PTVs) from large biobanks. Clinical features were standardized using Human Phenotype Ontology (HPO) across all 29 individuals, revealed clinical characteristics including epilepsy (13/29 45%),...
Similarities between a mouse model and human patient informed diagnosis management of novel cause dilated cardiomyopathy.
PurposeFor patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed across centers, determined diagnostic yield of testing, identified phenotypic features associated abnormal results.MethodsThis a multicenter cross-sectional study 5 large children's hospitals, including 2899 children ≤14 months undergoing surgical repair for CHD from 2013 to 2016, followed by multivariate...
Abstract AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded GRIA1–GRIA4 genes, which only GRIA3 is X-chromosomal. Increasing numbers missense variants are reported patients with neurodevelopmental disorders (NDD), but a few have been examined functionally. Here, we evaluated impact on AMPAR function one frameshift and 43 rare identified NDD...
Congenital Disorder of Glycosylation type Ig (ALG12-CDG) is part a group autosomal recessive conditions caused by deficiency proteins involved in the assembly dolichol-oligosaccharides used for protein N-glycosylation. In ALG12-CDG, enzyme affected encoded ALG12 gene. Affected individuals present clinically with neurodevelopmental delay, growth retardation, immune deficiency, male genital hypoplasia, and cardiomyopathy. A total six have been reported literature. Here, we an infant rhizomelic...
Abstract The objective was to describe pain characteristics and treatments used in individuals with varying severity of osteogenesis imperfecta (OI) investigate pain‐associated variables. This work derived from a multicenter, longitudinal, observational, natural history study OI conducted at 12 clinical sites the NIH Rare Diseases Clinical Research Network's Brittle Bone Disorders Consortium. Children adults clinical, biochemical, or molecular diagnosis were enrolled study. We did...
Osteogenesis imperfecta (OI) is a pleiotropic, heritable connective tissue disorder associated with wide range of health implications, including frequent bone fracture. While progress has been made to understand the spectrum these physical impact OI on psychosocial well-being, as well protective factors that buffer against adverse outcomes, remain understudied. This present study relies qualitative approach assess patient perspectives both and specific in 15 adults varying disease status....
Thiamine deficiency may propagate lactate production by limiting pyruvate dehydrogenase activity, and studies suggest benefit for thiamine administration in septic adults. We studied the effect of on physiologic clinical outcomes children with shock hyperlactatemia.Retrospective matched cohort study.Single academic PICU.Six thiamine-treated cases nine controls.None.The primary outcome was change blood from prethiamine (T0, cases) or maximum controls) through 24 hours later (T24). Secondary...
Abstract FLVCR1 encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. is widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, ethanolamine transport. While Flvcr1 knockout mice die utero skeletal malformations defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic variants are linked to childhood or adult-onset...