University of California (Irvine) Medical Genetics and Genomics/Pediatrics

Topics

• Lysosomal Storage Disorders Research 83
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 53
• Sexual Differentiation and Disorders 48
• Genomics and Rare Diseases 46
• Genetic Syndromes and Imprinting 44
• Genomic variations and chromosomal abnormalities 38
• Metabolism and Genetic Disorders 21
• Genetic Associations and Epidemiology 20
• Mitochondrial Function and Pathology 20
• BRCA gene mutations in cancer 15
• Genetic Neurodegenerative Diseases 15
• Endoplasmic Reticulum Stress and Disease 14

Most cited

1. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.

   Nature · 2024 · 489 citations · Leslie Raffel

2. Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.

   Nature genetics · 2022 · 588 citations · Leslie Raffel

3. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: 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 · 2021 · 526 citations · Fuki Hisama

4. The trans-ancestral genomic architecture of glycemic traits.

   Nature genetics · 2021 · 599 citations · Leslie Raffel

5. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

   Nature · 2024 · 113 citations · Eric Vilain, Changrui Xiao

6. In Addition to Stigma: Cognitive and Autism-Related Predictors of Mental Health in Transgender Adolescents.

   Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53 · 2023 · 66 citations ·