National Institutes of Health Clinical Center Medical Biochemical Genetics

Topics

• Lysosomal Storage Disorders Research 258
• Metabolism and Genetic Disorders 187
• Glycosylation and Glycoproteins Research 35
• Genomics and Rare Diseases 32
• Virus-based gene therapy research 22
• Autoimmune and Inflammatory Disorders Research 21
• Dermatological and Skeletal Disorders 20
• Folate and B Vitamins Research 20
• Genomic variations and chromosomal abnormalities 19
• Genetics and Neurodevelopmental Disorders 15
• Mitochondrial Function and Pathology 14
• melanin and skin pigmentation 10

Most cited

1. Nosology of genetic skeletal disorders: 2023 revision.

   American journal of medical genetics. Part A · 2023 · 303 citations · Carlos Ferreira

2. Cryoballoon Ablation as Initial Therapy for Atrial Fibrillation.

   The New England journal of medicine · 2021 · 549 citations · Sarfraz Durrani

3. Health Supervision for Children and Adolescents With Down Syndrome.

   Pediatrics · 2022 · 229 citations · Wendy Introne

4. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

   Nature genetics · 2021 · 361 citations · Ellen Sidransky

5. An international classification of inherited metabolic disorders (ICIMD).

   Journal of inherited metabolic disease · 2021 · 258 citations · Carlos Ferreira

6. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

   Journal of inherited metabolic disease · 2021 · 232 citations · Kimberly Chapman

7. Lysosomal dysfunction in neurodegeneration: emerging concepts and methods.