A5012430171- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- ATP Synthase and ATPases Research
- Genomic variations and chromosomal abnormalities
- Folate and B Vitamins Research
- Genetics and Neurodevelopmental Disorders
- Biochemical and Molecular Research
- RNA modifications and cancer
- Amino Acid Enzymes and Metabolism
- Congenital heart defects research
- Neonatal Health and Biochemistry
- Genetic Neurodegenerative Diseases
- Glycosylation and Glycoproteins Research
- Chromosomal and Genetic Variations
- Coenzyme Q10 studies and effects
- Nitric Oxide and Endothelin Effects
- Cancer, Hypoxia, and Metabolism
- Biochemical Acid Research Studies
- Geological and Geochemical Analysis
- Geochemistry and Geologic Mapping
- Metalloenzymes and iron-sulfur proteins
- Trace Elements in Health
- Muscle metabolism and nutrition
- Peroxisome Proliferator-Activated Receptors
Baylor College of Medicine
2016-2025
Texas Children's Hospital
2016-2025
Prince of Wales Hospital
2018-2025
University of Hong Kong
2018-2025
Chinese University of Hong Kong
2018-2025
Istituto delle Scienze Neurologiche di Bologna
2023
University of Bologna
2023
Massachusetts General Hospital
2023
Plan Ceibal
2021
Columbia University Irving Medical Center
2020
Objectives. The aim of this study was to elucidate the frequency major clinical manifestations in children with mitochondrial disease and establish their course, prognosis, rates survival depending on features. Methods. We performed a retrospective review medical records 400 patients who were referred for evaluation disease. By use modified Walker criteria, only assigned definite diagnosis included study. Results. A total 113 pediatric identified. 102 (90%) underwent muscle biopsy as part...
<h3>Importance</h3> While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution single-gene disorders in this group is undetermined. <h3>Objective</h3> To determine diagnostic yield use clinical exome sequencing critically ill infants. <h3>Design, Setting, Participants</h3> Clinical was performed for 278 unrelated infants within first 100 days life who were admitted Texas Children’s Hospital Houston, Texas, during 5-year...
Given the rarity of most single-gene Mendelian disorders, concerted efforts data exchange between clinical and scientific communities are critical to optimize molecular diagnosis novel disease gene discovery. We designed implemented protocols for study cases which a plausible was not achieved in genomics diagnostic laboratory (i.e. unsolved exomes). Such were recruited research further analyses, order potentially: (1) accelerate discovery; (2) increase yield whole exome sequencing (WES); (3)...
The presynaptic protein alpha-synuclein, implicated in Parkinson disease (PD), binds phospholipids and has a role brain fatty acid (FA) metabolism. In mice lacking alpha-synuclein (Snca-/-), total steady-state mass of the mitochondria-specific phospholipid, cardiolipin, is reduced 22% its acyl side chains show 51% increase saturated FAs 25% reduction essential n-6, but not n-3, polyunsaturated FAs. Additionally, 23% phosphatidylglycerol content, immediate biosynthetic precursor was observed...
Array comparative genomic hybridization (aCGH) is a powerful tool for the molecular elucidation and diagnosis of disorders resulting from copy-number variation (CNV). However, intragenic deletions or duplications--those including intervals size smaller than gene--have remained beyond detection limit most clinical aCGH analyses. Increasing array probe number improves resolution, although higher cost may implementation, enhanced benign CNV can confound interpretation. We designed an with...
Abstract Recurrent interstitial deletion of a region 8p23.1 flanked by the low copy repeats 8p‐OR‐REPD and 8p‐OR‐REPP is associated with spectrum anomalies that can include congenital heart malformations diaphragmatic hernia (CDH). Haploinsufficiency GATA4 thought to play critical role in development these birth defects. We describe two individuals monozygotic twin pair discordant for anterior CDH all whom have complex defects caused this recurrent as demonstrated array comparative genomic...
Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus hypotonia. In this series, we have identified 15 different the DGUOK gene from 9 kindreds. Among them, 12 not previously been reported. Nonsense, splice site, or frame-shift produce truncated proteins predominate over missense mutations. All patients who harbor null had early onset failure significant neurological disease. These...
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) speech/language delay and behavioral problems as the most affected domains was present in 44 participants, additional epilepsy 35 movement disorder 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate protein/arginine restricted diets. The median age at treatment...
In clinical diagnostics, both array comparative genomic hybridization (array CGH) and single nucleotide polymorphism (SNP) genotyping have proven to be powerful technologies utilized for the evaluation of developmental delay, multiple congenital anomalies, neuropsychiatric disorders. Differences in ability resolve changes between these arrays may constitute an implementation challenge clinicians: which platform (SNP vs might best detect underlying genetic cause disease patient? While only...