University of Washington School of Medicine Medical Genetics and Genomics/Pediatrics

Topics

• Connective tissue disorders research 222
• Genomics and Rare Diseases 204
• Genetic Associations and Epidemiology 86
• BRCA gene mutations in cancer 76
• Genetic and Kidney Cyst Diseases 74
• Genomic variations and chromosomal abnormalities 58
• Metabolism and Genetic Disorders 44
• Genetics and Neurodevelopmental Disorders 41
• Genomics and Chromatin Dynamics 41
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 39
• Glycosylation and Glycoproteins Research 36
• Skin and Cellular Biology Research 36

Most cited

1. The complete sequence of a human genome.

   Science (New York, N.Y.) · 2022 · 2,284 citations · Danny Miller

2. The power of genetic diversity in genome-wide association studies of lipids.

   Nature · 2021 · 795 citations · Gail Jarvik

3. Integrated multimodal cell atlas of Alzheimer's disease.

   Nature neuroscience · 2024 · 287 citations · Suman Jayadev

4. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 526 citations · Danny Miller

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

   JAMA · 2025 · 104 citations · Sihoun Hahn

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

   Pediatrics · 2022 · 229 citations · Samantha Vergano

7. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.