Children's National Medical Center Medical Genetics and Genomics/Pediatrics

Topics

• Lysosomal Storage Disorders Research 245
• Metabolism and Genetic Disorders 67
• Genomics and Rare Diseases 41
• Genomic variations and chromosomal abnormalities 32
• Hedgehog Signaling Pathway Studies 26
• Genetics and Neurodevelopmental Disorders 20
• Congenital heart defects research 17
• Craniofacial Disorders and Treatments 15
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 14
• Connective tissue disorders research 12
• Diversity and Career in Medicine 10
• Parvovirus B19 Infection Studies 9

Most cited

1. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

   JAMA · 2025 · 104 citations · Paul Kruszka

2. 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

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

   Trends in neurosciences · 2022 · 195 citations · Ellen Sidransky

4. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

   Nature · 2024 · 113 citations · Seth Berger, Christina Grant

5. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2023 · 126 citations · Paul Kruszka

6. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

   American journal of human genetics · 2025 · 42 citations · Seth Berger