University of Washington Medical Biochemical Genetics

Topics

• Metabolism and Genetic Disorders 35
• Genomics and Rare Diseases 29
• Glycosylation and Glycoproteins Research 24
• Genomics and Chromatin Dynamics 16
• Mitochondrial Function and Pathology 15
• Lysosomal Storage Disorders Research 12
• Trace Elements in Health 12
• Genomic variations and chromosomal abnormalities 7
• Chromatin Remodeling and Cancer 6
• Peroxisome Proliferator-Activated Receptors 6
• RNA Research and Splicing 6
• Cervical Cancer and HPV Research 5

Most cited

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

   JAMA · 2025 · 104 citations · Sihoun Hahn

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

   Pediatrics · 2022 · 229 citations · Samantha Vergano

3. Targeted long-read sequencing identifies missing disease-causing variation.

   American journal of human genetics · 2021 · 181 citations · Katrina Dipple, Christina Lam, Irene Chang

4. Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

   Nature genetics · 2025 · 36 citations · Sirisak Chanprasert, Katrina Dipple

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

   HGG advances · 2022 · 145 citations · Samantha Vergano