Camilo Toro

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 2

Top Topics

Intellectual Disability

Catheter Ablation

Top Venues

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Prashant Sharma, David R Adams, John I Gallin, Steven M Holland, Sergio D Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A Gahl, Wendy J Introne, May Christine V Malicdan
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. Journal of medical genetics (2023)
Mary C Whitman, Brenda J Barry, Caroline D Robson, Flavia M Facio, Carol Van Ryzin, Wai-Man Chan, Tanya J Lehky, Audrey Thurm, Christopher K Zalewski, Kelly A King, Carmen Brewer, Konstantinia Almpani, Janice S Lee, Angela Delaney, Edmond J FitzGibbon, Paul R Lee, Camilo Toro, Scott M Paul, Omar A Abdul-Rahman, Bryn D Webb, Ethylin Wang Jabs, Hans Ulrik Moller, Dorte Ancher Larsen, Jayne H Antony, Christopher Troedson, Alan Sl Ma, Glad Ragnhild, Katrine V Wirgenes, Emma Tham, Malin Kvarnung, Timothy James Maarup, Sarah MacKinnon, David G Hunter, Francis S Collins, Irini Manoli, Elizabeth C Engle
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Human genetics 140 (12) (2021)