University of Nebraska Medical Center College of Medicine Medical Genetics and Genomics

Topics

• Skin and Cellular Biology Research 52
• Peroxisome Proliferator-Activated Receptors 22
• Connective tissue disorders research 11
• Genomics and Rare Diseases 8
• Metabolism and Genetic Disorders 8
• Phagocytosis and Immune Regulation 8
• EEG and Brain-Computer Interfaces 5
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 5
• Genomics and Chromatin Dynamics 5
• Adipose Tissue and Metabolism 4
• Biomedical Research and Pathophysiology 4
• Genomic variations and chromosomal abnormalities 4

Most cited

1. Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

   European journal of human genetics : EJHG · 2023 · 47 citations · Lois Starr

2. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

   American journal of medical genetics. Part A · 2021 · 64 citations · Carey Ronspies, Lois Starr

3. Pangenome graphs improve the analysis of structural variants in rare genetic diseases.

   Nature communications · 2024 · 31 citations · William Rizzo

4. Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.

   JBMR plus · 2024 · 9 citations · Danita Velasco

5. Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

   American journal of human genetics · 2025 · 10 citations · George Anadiotis

6. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.

   Nature communications · 2023 · 33 citations ·