Renata Pellegrino da Silva

SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation

Abdul Haseeb, Ranjan Kc, Marco Angelozzi et al. · Proceedings of the National Academy of Sciences · 2021 · 234 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

Dong Li, Tara Wenger, Christoph Seiler et al. · Human Molecular Genetics · 2018 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

Nori Matsunami, Dexter Hadley, Charles H. Hensel et al. · PLoS ONE · 2013 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genomic profiling informs diagnoses and treatment in vascular anomalies

Dong Li, Sarah E. Sheppard, Michael March et al. · Nature Medicine · 2023 · 62 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

Dong Li, Elizabeth A. Streeten, Alice Chan et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 42 citations · Full text

Life Sciences, Endocrinology, Genetics +16