A5036703956- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Child Abuse and Related Trauma
- Prenatal Screening and Diagnostics
- Metabolism and Genetic Disorders
- Child and Adolescent Health
- Connective tissue disorders research
- Neurogenetic and Muscular Disorders Research
- BRCA gene mutations in cancer
- Child Abuse and Trauma
- Congenital Anomalies and Fetal Surgery
- COVID-19 and healthcare impacts
- Child Nutrition and Feeding Issues
- Telemedicine and Telehealth Implementation
- Autism Spectrum Disorder Research
- Epigenetics and DNA Methylation
- Folate and B Vitamins Research
- Mitochondrial Function and Pathology
- Assisted Reproductive Technology and Twin Pregnancy
- Breastfeeding Practices and Influences
- Genetic factors in colorectal cancer
- Genetic Syndromes and Imprinting
- CRISPR and Genetic Engineering
Children's National
2019-2024
National Hospital
2024
George Washington University
2020-2024
Neurological Surgery
2021
Georgetown University
2021
Premier Health Care
2021
Georgetown University Medical Center
2021
Yale University
2021
Yale-NUS College
2021
Albany Medical Center Hospital
2014-2019
Some copy-number variants are associated with genomic disorders extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management.We analyzed the genomes 2312 children known to carry a variant intellectual disability congenital abnormalities, using array comparative hybridization.Among affected children, 10.1% carried second large addition primary lesion. We identified seven disorders, each defined by specific...
To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in infancy or early life with weakness and hypotonia, using next-generation sequencing whole exomes genomes. Whole-exome -genome was performed cohort 29 unrelated patients clinicopathologic diagnoses CNM related myopathy depleted cases mutations MTM1, DNM2, BIN1. Immunofluorescence analyses on biopsies, splicing assays, gel electrophoresis patient...
Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous overlapping clinical features often allocate patients into the boundary of two conditions, complicating accurate diagnosis appropriate medical interventions. Therefore, we investigated specific molecular mechanism that allows an understanding pathogenesis relationship these conditions.We screened novel genetic factors from 34...
PurposeVariants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy males and females. We aimed to investigate sex-specific differences.MethodsWe collected the data of 37 unpublished patients (18 19 females) IQSEC2 pathogenic variants 5 individuals unknown significance reviewed published variants. compared variant types phenotypes females performed an analysis isoforms.ResultsIQSEC2 mainly led premature truncation were scattered throughout...
We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. encodes a three amino acid loop extension (TALE) homeodomain transcription factor that forms multimeric complexes TALE and HOX proteins to regulate target gene during development. As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations hypoplasia or aplasia of multiple organs, including craniofacial skeleton, ear, branchial arches, heart, lungs, diaphragm, gut, kidneys, gonads....
Abstract The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID‐19 pandemic. Prior to 2020 pandemic Division Genetics Metabolism piloted a program focused on initial follow‐up visits in patients' home. goals were increase access care, decrease missed work, improve scheduling, avoid transport exposure medically fragile patients. Visits conducted physician medical geneticists, genetic counselors, biochemical dietitians, together...
Thousand and one amino-acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen-activated pathways, thereby modulating multitude of processes in the cell. Given recent finding TAOK1 involvement neurodevelopmental disorders (NDDs), we investigated role neuronal function collected cohort 23 individuals with mostly de novo variants to further define associated NDD. Here, provide evidence for an important function, showing that altered expression levels embryonic mouse brain...
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes frequently associated with clinically heterogeneous phenotypes humans and follow both autosomal dominant or recessive inheritance patterns many instances. tryptophanyl-tRNA synthetase 1 (WARS1) cause dominantly inherited distal hereditary motor neuropathy Charcot-Marie-Tooth disease. Presently, only one family biallelic WARS1 variants has been described....
Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 had detailed breakpoint analysis.To further delineate the features of syndrome, clinical molecular characterisation fifteen with deletions in region was performed, nearly doubling number reported patients.Breakpoints were using custom, high-density array comparative...
Over the last decades, there has been a twin boom in terms of live births. Meanwhile, new insights into genetics twinning have changed major paradigms. The first paradigm is that monozygotic (MZ) twins are identical. second either MZ or dizygotic (DZ). third happen by chance alone. We discovered striking epigenetic and other differences between seemingly alike individuals; presence fascinating intermediate forms; potential for familial even gene. As this article discusses, aforementioned...
Activity-dependent neuroprotective protein (ADNP) is a highly conserved transcription factor comprised of nine-zinc finger domains and homeobox domain.1 ,2 It expressed prenatally during critical stages embryonic brain development.3 Knockout (KO) mouse embryos demonstrate severe neurodevelopmental morphological profiles.4 Although the ADNP KO lethal, heterozygous typical embryogenesis yet display delay phenotype including decreased neuronal survival.3 ,5 Exome sequencing in Simons Simplex...
Pyruvate carboxylase deficiency (PCD) is caused by biallelic mutations of the PC gene. The reported clinical spectrum includes a neonatal form with early death (type B), an infantile fatal A), and late-onset isolated mild intellectual delay C). Apart from homozygous stop-codon leading to type B PCD, genotype-phenotype correlation has not otherwise been discernible. Indeed, patients harboring heterozygous variants activity near zero can present either A or benign late onset C form. In this...
Abstract We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed single copy number increase of BAC clone in the 11p15.4 region. Oligonucleotide aCGH refined duplication to approximately 2.29 megabases (Mb) size. Testing parents revealed that father, who had learning disabilities also duplication, mother normal microarray. In addition, patient's brother grandmother all share...
This case report details a unique of acute, reversible liver failure in 12-year-old male with sickle cell anemia on chronic transfusion protocol and deferasirox chelation. There is substantial literature documenting deferasirox-induced renal injury, including Fanconi syndrome, but less documentation hepatic toxicity few reports failure. The highlights the importance close monitoring ferritin, bilirubin, transaminases for patients deferasirox.