FilippoPinto e VairoMD

Clinical Genetics, Ph.D. Medical Genetics

Physician

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PubMed

12 citations
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, Graeme J Preston, Arianna Maiorana
Genetics in Medicine. 2022-04-01
5 citations
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Stephanie L. Safgren, Rory J. Olson, Filippo Vairo, Erick D. Bothun, Christian Hanna
American Journal of Medical Genetics. Part A. 2021-11-19
7 citations
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Matthew P. Wilson, Alejandro Garanto, Filippo Vairo, Bobby G. Ng, Wasantha Ranatunga
American Journal of Human Genetics. 2021-11-04