SLCH Consortium Medical Genetics and Genomics/Pediatrics

Topics

• Lysosomal Storage Disorders Research 83
• Metabolism and Genetic Disorders 56
• Genomics and Rare Diseases 42
• Genomic variations and chromosomal abnormalities 42
• Genetics and Neurodevelopmental Disorders 25
• Connective tissue disorders research 23
• Mitochondrial Function and Pathology 18
• Cardiac Ischemia and Reperfusion 12
• Congenital heart defects research 11
• Genetic Syndromes and Imprinting 11
• Inflammasome and immune disorders 11
• BRCA gene mutations in cancer 10

Most cited

1. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

   Journal of the National Comprehensive Cancer Network : JNCCN · 2021 · 914 citations · Patricia Dickson

2. Macrophages in cardiac remodelling after myocardial infarction.

   Nature reviews. Cardiology · 2023 · 263 citations · Selena Vanapruks

3. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors.

   Journal of genetic counseling · 2023 · 112 citations · Nephi Walton

4. Congenital Hypothyroidism: Screening and Management.

   Pediatrics · 2023 · 91 citations · Katherine King

5. Congenital Hypothyroidism: Screening and Management.

   Pediatrics · 2023 · 54 citations · Katherine King

6. Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors.

   Journal of genetic counseling · 2023 · 61 citations · Tomi Toler