Renata Pellegrino da Silva

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

Mingyao Li, K. Wimmer, Kai Wang, 2018, Nature Communications.

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

Mark S. Anderson, H. Hakonarson, Cecilia Kim, 2017, The Journal of clinical endocrinology and metabolism.

Single-cell atlas of craniogenesis uncovers SOXC-dependent, highly proliferative, and myofibroblast-like osteodermal progenitors

V. Lefebvre, Renata Pellegrino da Silva, M. V. Gonzalez, 2022, Cell reports.

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

V. Lefebvre, Renata Pellegrino da Silva, Danielle Rux, 2021, Proceedings of the National Academy of Sciences.

Autophagy mitigates ethanol-induced mitochondrial dysfunction and oxidative stress in esophageal keratinocytes

G. Ruthel, J. Baur, H. Nakagawa, 2020, PloS one.

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

H. Hakonarson, R. Chiavacci, C. Seiler, 2018, Human molecular genetics.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

Genomic profiling informs diagnoses and treatment in vascular anomalies

H. Hakonarson, J. Treat, C. Seiler, 2023, Nature Medicine.

Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency

H. Hakonarson, Yiran Guo, V. Fung, 2019, Neurology.