Albert Einstein College of Medicine Medical Genetics and Genomics

Topics

• Prenatal Screening and Diagnostics 49
• Lysosomal Storage Disorders Research 46
• BRCA gene mutations in cancer 30
• Genomics and Rare Diseases 30
• Simulation-Based Education in Healthcare 23
• Metabolism and Genetic Disorders 22
• Influenza Virus Research Studies 14
• Genomic variations and chromosomal abnormalities 11
• Genetics and Neurodevelopmental Disorders 10
• Congenital heart defects research 8
• Connective tissue disorders research 8
• Craniofacial Disorders and Treatments 7

Most cited

1. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2023 · 177 citations · Susan Klugman

2. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 344 citations · Susan Klugman

3. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).

   Orphanet journal of rare diseases · 2023 · 74 citations · Melissa Wasserstein

4. Association Between Radioactive Iodine Treatment for Pediatric and Young Adulthood Differentiated Thyroid Cancer and Risk of Second Primary Malignancies.

   Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022 · 111 citations · Sara Rabin-Havt

5. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2022 · 71 citations · Melissa Wasserstein