Greenwood Genetic Center Medical Genetics and Genomics

Topics

• Genetics and Neurodevelopmental Disorders 67
• Genomic variations and chromosomal abnormalities 29
• Genomics and Rare Diseases 25
• Genetic Syndromes and Imprinting 14
• Autism Spectrum Disorder Research 12
• Polyamine Metabolism and Applications 12
• Epigenetics and DNA Methylation 8
• Connective tissue disorders research 7
• Metabolism and Genetic Disorders 7
• RNA Research and Splicing 5
• Folate and B Vitamins Research 4
• Genetic Associations and Epidemiology 4

Most cited

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

   Pediatrics · 2022 · 229 citations · Michael Lyons

2. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 167 citations · Steven Skinner

3. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2024 · 65 citations · Steven Skinner

4. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

   HGG advances · 2022 · 145 citations · Steven Skinner

5. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

   JAMA neurology · 2022 · 74 citations · Caleb Bupp

6. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

   Human mutation · 2022 · 67 citations · Steven Skinner