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

Topics

• Genomics and Rare Diseases 61
• Trace Elements in Health 54
• Genomic variations and chromosomal abnormalities 43
• Lysosomal Storage Disorders Research 39
• Genetics and Neurodevelopmental Disorders 23
• Connective tissue disorders research 17
• RNA regulation and disease 16
• Prenatal Screening and Diagnostics 14
• RNA modifications and cancer 10
• RNA Research and Splicing 10
• Congenital heart defects research 9
• Hereditary Neurological Disorders 9

Most cited

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

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

2. ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma.

   Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025 · 90 citations · Hans Shuhaiber

3. ARE THERE TWO FORMS OF MULTIPLE EVANESCENT WHITE DOT SYNDROME?

   Retina (Philadelphia, Pa.) · 2022 · 51 citations · Aliaa Abdelhakim

4. MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.

   Journal of inherited metabolic disease · 2021 · 68 citations · Gustavo Maegawa

5. GREGoR: accelerating genomics for rare diseases.

   Nature · 2025 · 21 citations · Jennifer Posey

6. Newborn Screening for 6 Lysosomal Storage Disorders in China.

   JAMA network open · 2024 · 19 citations · Gustavo Maegawa