New York Presbyterian Hospital (Columbia Campus) Medical Genetics and Genomics/Pediatrics

Topics

• Genomics and Rare Diseases 60
• Trace Elements in Health 54
• Genomic variations and chromosomal abnormalities 36
• Connective tissue disorders research 16
• Genetics and Neurodevelopmental Disorders 14
• Prenatal Screening and Diagnostics 12
• RNA regulation and disease 12
• RNA Research and Splicing 10
• Ethics and Legal Issues in Pediatric Healthcare 8
• Metabolism and Genetic Disorders 8
• RNA modifications and cancer 8
• Congenital heart defects research 7

Most cited

1. Connecting copper and cancer: from transition metal signalling to metalloplasia.

   Nature reviews. Cancer · 2022 · 1,024 citations · Stephen Kaler

2. GREGoR: accelerating genomics for rare diseases.

   Nature · 2025 · 21 citations · Jennifer Posey

3. Improving automated deep phenotyping through large language models using retrieval-augmented generation.

   Genome medicine · 2025 · 16 citations · Jennifer Posey

4. Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

   Nature genetics · 2026 · 7 citations · Jennifer Posey

5. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

   American journal of human genetics · 2021 · 67 citations · Jennifer Posey

6. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

   American journal of human genetics · 2021 · 76 citations · Jennifer Posey

7. Centers for Mendelian Genomics: A decade of facilitating gene discovery.