Baylor College of Medicine Internal Medicine/Medical Genetics and Genomics

Topics

• Metabolism and Genetic Disorders 164
• Genomic variations and chromosomal abnormalities 144
• Connective tissue disorders research 143
• Mitochondrial Function and Pathology 143
• Genomics and Rare Diseases 142
• Prenatal Screening and Diagnostics 72
• Genetics and Neurodevelopmental Disorders 70
• Lysosomal Storage Disorders Research 54
• Genetic Syndromes and Imprinting 50
• Congenital heart defects research 46
• BRCA gene mutations in cancer 42
• Virus-based gene therapy research 27

Most cited

1. Nosology of genetic skeletal disorders: 2023 revision.

   American journal of medical genetics. Part A · 2023 · 303 citations · Reid Sutton

2. Genetics and Pathogenesis of Parkinson's Syndrome.

   Annual review of pathology · 2023 · 345 citations · Laurie Robak

3. Genomics and multiomics in the age of precision medicine.

   Pediatric research · 2025 · 81 citations · Seema Lalani

4. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2022 · 224 citations · Sharon Plon

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

   Nature · 2024 · 113 citations · Lindsay Burrage, Seema Lalani

6. Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

   The Lancet. Child & adolescent health · 2024 · 64 citations ·