SLCH Consortium Medical Biochemical Genetics

Topics

• Lysosomal Storage Disorders Research 78
• Metabolism and Genetic Disorders 44
• Genomic variations and chromosomal abnormalities 41
• Genomics and Rare Diseases 29
• Genetics and Neurodevelopmental Disorders 24
• Connective tissue disorders research 23
• Cardiac Ischemia and Reperfusion 12
• Inflammasome and immune disorders 11
• Congenital heart defects research 10
• Genetic Syndromes and Imprinting 10
• Mitochondrial Function and Pathology 9
• BRCA gene mutations in cancer 8

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. Congenital Hypothyroidism: Screening and Management.

   Pediatrics · 2023 · 91 citations · Katherine King

3. Congenital Hypothyroidism: Screening and Management.

   Pediatrics · 2023 · 54 citations · Katherine King

4. 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

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

   JAMA pediatrics · 2021 · 158 citations · Marwan Shinawi, Dustin Baldridge

6. Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.

   Nature metabolism · 2023 · 61 citations ·