SLCH Consortium Medical Genetics and Genomics

Topics

• Lysosomal Storage Disorders Research 78
• Metabolism and Genetic Disorders 46
• Genomic variations and chromosomal abnormalities 44
• Connective tissue disorders research 40
• Genomics and Rare Diseases 38
• Williams Syndrome Research 33
• Genetics and Neurodevelopmental Disorders 26
• Mitochondrial Function and Pathology 14
• Cardiac Ischemia and Reperfusion 12
• Congenital heart defects research 11
• Genetic Syndromes and Imprinting 11
• Inflammasome and immune disorders 11

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. Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.

   The New England journal of medicine · 2021 · 427 citations · Tracy McGregor

3. Congenital Hypothyroidism: Screening and Management.

   Pediatrics · 2023 · 91 citations · Katherine King

4. Williams syndrome.

   Nature reviews. Disease primers · 2021 · 177 citations · Beth Kozel

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

7. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.