A5080232633- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Connexins and lens biology
- Metabolism and Genetic Disorders
- Connective tissue disorders research
- Ocular Disorders and Treatments
- Folate and B Vitamins Research
- BRCA gene mutations in cancer
- RNA regulation and disease
- Acne and Rosacea Treatments and Effects
- Meningioma and schwannoma management
- Neurofibromatosis and Schwannoma Cases
- Vascular Malformations Diagnosis and Treatment
- Systemic Sclerosis and Related Diseases
- Cancer Genomics and Diagnostics
- melanin and skin pigmentation
- Biomedical Text Mining and Ontologies
- Aortic Disease and Treatment Approaches
- Esophageal Cancer Research and Treatment
- Zebrafish Biomedical Research Applications
- RNA and protein synthesis mechanisms
- Cardiac Valve Diseases and Treatments
- RNA modifications and cancer
- Glaucoma and retinal disorders
Lurie Children's Hospital
2022-2025
Northwestern University
2022-2024
CHARGE syndrome is a rare multi-system condition associated with CHD7 variants. However, ocular manifestations and particularly ophthalmic genotype-phenotype associations, are not well-studied. This study evaluated associations in pediatric patients syndrome. A retrospective chart review included under 20 years-old clinical diagnosis of documented examination. Demographics, genetic testing, findings were collected. Comprehensive literature enhanced the analysis. Forty-two (20 male) underwent...
Due to the recent advent of gene-targeted retinal therapies, clinical value high-yield genetic testing for inherited dystrophies (IRDs) has increased considerably. However, diagnostic yield is limited by reported patient populations in allele frequency databases. This study aimed determine effect race and ethnicity on IRDs. Retrospective review individuals with suspected IRD based findings or diagnosis associated syndrome who underwent between 2009 2021. Self-reported ethnicity, ophthalmic...
The diagnostic yield of genetic testing for ocular/oculocutaneous albinism (OA/OCA) in a diverse pediatric population the United States (U.S.) is unclear. Phenotypes 53 patients who presented between 2006–2022 with OA/OCA were retrospectively correlated results. Genetic was defined as detection pathogenic/likely pathogenic variant(s) matching anticipated inheritance that gene–disease relationship. Variant reclassifications those variants uncertain significance (VUS) and without positive...
The aim of this study was to evaluate the diagnostic yield from prior genetic testing in a 20-year cohort pediatric patients with congenital cataracts. A retrospective review cataracts who underwent completed 2003–2022. test determined by variant classification and inheritance pattern. Variants initial reclassification accordance ACMG-AMP (American College Medical Genetics Genomics—American Association Molecular Pathology) 2015 or 2020 ACMG CNV guidelines. total 95 variants were identified...
Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with progressive axonal neuropathy characterized by variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and respiratory insufficiency. Pathogenic variants in
In 2019, the American College of Medical Genetics and Genomics Clinical Genome Resource published updated technical standards for interpretation reporting copy number variants (CNVs), introducing a semiquantitative classification system to improve standardization consistency between laboratories. Evaluation these guidelines' performance will inform laboratories about impact their implementation into clinical practice. A total 145 difficult-to-classify CNVs, originally assessed by an academic...
Heterozygous pathogenic variants in PHOX2B are diagnostic for congenital central hypoventilation syndrome (CCHS), a rare autonomic disorder characterized by inadequate respiratory control necessitating artificial ventilation as life support. Comprehensive assessments of genotypes have enabled establishment phenotypic predictors the clinical management patients affected with CCHS due to polyalanine repeat mutations (PARMs), truncating and frameshift non-PARMs (NPARMs), full-gene deletions.
Abstract Nonketotic hyperglycinemia (NKH) is a relatively well‐characterized inborn error of metabolism that results in combination lethargy, hypotonia, seizures, developmental arrest, and, severe cases, death early life. Three genes encoding components the glycine cleavage enzyme system— GLDC, AMT, and GCSH —are independently associated with NKH. We report on patient NKH whom homozygous pathogenic variant AMT (NM_000481.3):c.602_603del (p.Lys201Thrfs*75) likely GLDC...
Abstract Neurofibromatosis type 1 (NF‐1) microdeletion syndrome accounts for 5 to 11% of individuals with NF‐1. The aim our study was characterize a large cohort NF‐1 and expand its natural history. We conducted retrospective chart review from 1994 2024 followed at two Clinics. This consists 57 (28 type‐1, 4 type‐2, 2 type‐3, 9 atypical deletions, 14 indeterminate). note 38/56 (67.9%) describable facial features, 25/57 (43.8%) plexiform neurofibromas, 3/57 (5.2%) malignant peripheral nerve...
ABSTRACT The recurrent chromosome 16p11.2 BP4‐BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility early‐onset obesity. We identified 22 new individuals proximal deletions through retrospective data analysis at our institution performed phenotyping in‐depth chart review. Our cohort exhibited spectrum of abnormalities largely consistent other publications, however they also were found have higher rate...