A5006135605- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Renal and related cancers
- Neonatal Respiratory Health Research
- Genetic Syndromes and Imprinting
- Biomedical and Engineering Education
- Chromosomal and Genetic Variations
- Obstructive Sleep Apnea Research
- Medical History and Research
- Genomics and Chromatin Dynamics
- Protein Tyrosine Phosphatases
- Hormonal and reproductive studies
- Craniofacial Disorders and Treatments
- Diverticular Disease and Complications
- History of Medical Practice
- Sexual Differentiation and Disorders
- Colorectal Cancer Screening and Detection
- Chromatin Remodeling and Cancer
- Connective tissue disorders research
- BRCA gene mutations in cancer
George Washington University
2025
Children's National
2024
National Hospital
2024
National Institutes of Health Clinical Center
2023-2024
National Heart Lung and Blood Institute
2022
Case Western Reserve University
2018-2021
National Human Genome Research Institute
2020-2021
National Institutes of Health
2020-2021
Center for Human Genetics
2018-2021
University Hospitals of Cleveland
2019-2021
Abstract Reports of individuals with deletions 1q24 → q25 share common features prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face severe cognitive deficits. We report nine 1q24q25 deletions, who show distinctive a clinically recognizable microdeletion syndrome: prenatal‐onset microcephaly proportionate disability, feet brachydactyly, single transverse palmar flexion creases, fifth finger clinodactyly facial features: upper eyelid fullness, ears, short nose...
Abstract Histone Gene Cluster 1 Member E, HIST1H1E , encodes H1.4, is one of a family epigenetic regulator genes, acts as linker histone protein, and responsible for higher order chromatin structure. syndrome (also known Rahman syndrome, OMIM #617537) recently described intellectual disability (ID) syndrome. Since the initial description five unrelated individuals with three different heterozygous protein‐truncating variants (PTVs) in gene 2017, we have recruited 30 patients, all PTVs that...
Ambulatory surgery centers now report immediate hospital transfer rates as a measure of quality. For patients undergoing colonoscopy, this may fail to capture adverse events, which occur after discharge yet still require hospital-based acute care encounter.We conducted study estimate and following outpatient colonoscopy performed in ambulatory centers.Using state databases from the 2009-2010 Healthcare Cost Utilization Project, we identified adult who underwent colonoscopy. Immediate overall...
Biallelic variants in PNPT1 cause a mitochondrial disease of variable severity. (polynucleotide phosphorylase) is protein involved RNA processing where it has dual role the import small RNAs into mitochondria and preventing formation release double-stranded cytoplasm. This, turn, prevents activation type I interferon response. Detailed neuroimaging findings PNPT1-related are lacking with only few patients reported basal ganglia lesions (Leigh syndrome) or non-specific signs.To document data...
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees aldosterone production. There a continuum phenotypes which generally correlate genotype and the expected residual 21OH activity less severely impaired allele. CYP21A1P/CYP21A2 chimeric genes caused by recombination between CYP21A2 its highly homologous CYP21A1P pseudogene are common in CAH typically associated salt-wasting CAH,...
Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine specific proteins. A handful PTPs have been implicated in germline and somatic human disease. Using exome sequencing, we identified missense truncating variants PTPN4 six unrelated individuals with varying degrees intellectual disability or developmental delay. The occurred de novo all five subjects whom segregation analysis...
Obstructive sleep apnea (OSA) is a common disorder associated with increased risk of cardiovascular disease and mortality. Iron heme metabolism, implicated in ventilatory control OSA comorbidities, was phenotypes recent admixture mapping gene enrichment analyses. However, its causal contribution unclear. In this study, we performed pathway-level transcriptional Mendelian randomization (MR) analysis to investigate the relationships between iron related pathways OSA. primary analysis, examined...
With increases in precision medicine initiatives and genetically defined rare diseases, the genetics metabolism workforce is necessary to provide around clock care for patients. While some specialties are able use in-house call, where one physician can a large group of patients, patients with specificity questions has led increased overnight calls need support. Simultaneously, size not grown meet demand "on-call"
The ClinGen Genome Resource (ClinGen) is an NIH-funded initiative developing authoritative resources to define variant pathogenicity and clinical validity of gene-disease relationships. Skeletal Disorders Expert Panels were formed assess genes variants in skeletal dysplasias which are characterized by abnormalities cartilage bone. first tier gene curation performed the Gene Curation Panel (GCEP) focused on 9 most common causative genes.
Individuals with hypermobility who may meet the clinical criteria for Ehlers-Danlos, hypermobile type (hEDS), frequently request evaluations by genetics providers. As total number of providers is stable but patients requesting support grows, we have identified a need novel approaches to patient evaluations. We created an adult clinic one-time visits which allows us screen masquerading disorders and provide while supporting workforce's needs.
John M. Graham, Jr. MD, ScD, pediatrician, Clinical Geneticist and Dysmorphologist, fellow of David Weyhe Smith, one the founding members American College Medical Genetics, father, grandfather, perpetually optimistic Dodgers fan, has launched many careers. Through his long productive career, he demonstrated fostered values kindness, respect, inclusivity, resilience. His teaching, mentorship, collaborative efforts have contributed to very fabric field Genetics congenial zeitgeist...