Baylor College of Medicine Medical Genetics and Genomics/Pediatrics

Topics

• Metabolism and Genetic Disorders 166
• Genomics and Rare Diseases 153
• Genomic variations and chromosomal abnormalities 149
• Connective tissue disorders research 148
• Mitochondrial Function and Pathology 144
• Genetics and Neurodevelopmental Disorders 72
• Prenatal Screening and Diagnostics 72
• Lysosomal Storage Disorders Research 55
• Congenital heart defects research 53
• Genetic Syndromes and Imprinting 52
• BRCA gene mutations in cancer 47
• 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. FTO mediates LINE1 m6A demethylation and chromatin regulation in mESCs and mouse development.

   Science (New York, N.Y.) · 2022 · 262 citations · Caraline Sepich-Poore

5. 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

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

   Nature · 2024 · 113 citations · Lindsay Burrage,