University Hospitals Cleveland Medical Center Medical Biochemical Genetics

Topics

• Metabolism and Genetic Disorders 22
• Genomic variations and chromosomal abnormalities 9
• Mitochondrial Function and Pathology 8
• Connective tissue disorders research 7
• Genomics and Rare Diseases 5
• Cystic Fibrosis Research Advances 4
• Genetics and Neurodevelopmental Disorders 4
• Lysosomal Storage Disorders Research 4
• BRCA gene mutations in cancer 3
• Genetic and Kidney Cyst Diseases 3
• Vascular Malformations and Hemangiomas 3
• Down syndrome and intellectual disability research 2

Most cited

1. Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 47 citations · Katherine Dempsey

2. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

   Molecular genetics & genomic medicine · 2024 · 9 citations · Laura Konczal

3. Atypical Femoral Fracture in Hypophosphatasia: A Systematic Review.

   International journal of endocrinology · 2023 · 11 citations · Jirat Chenbhanich

4. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2022 · 20 citations · Rachel VanCoillie

5. Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.

   Molecular genetics and metabolism · 2021 · 15 citations · Laura Konczal

6. Inpatient epidemiology, healthcare utilization, and association with comorbidities of Turner syndrome: A National Inpatient Sample study.