Albert Einstein College of Medicine Molecular Genetic Pathology (Multidisciplinary)

Topics

• Lysosomal Storage Disorders Research 41
• Prenatal Screening and Diagnostics 31
• BRCA gene mutations in cancer 23
• Genomics and Rare Diseases 19
• Metabolism and Genetic Disorders 17
• Genomic variations and chromosomal abnormalities 11
• SARS-CoV-2 and COVID-19 Research 9
• Breast Cancer Treatment Studies 8
• Acute Myeloid Leukemia Research 7
• SARS-CoV-2 detection and testing 6
• Cystic Fibrosis Research Advances 5
• Folate and B Vitamins Research 5

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. 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

5. Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2023 · 74 citations · Susan Klugman