Sebastian Silva (Sebastián Silva)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 6

Top Topics

Intellectual Disability

Dna Methylation

Autism Spectrum Disorder

Top Venues

Clinical genetics

Journal of human genetics

Nucleosides, nucleotides & nucleic acids

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

Publications

Sanami Takada, Sebastian Silva, Ivonne Zamorano, Andrea Pérez, Chisato Iwabuchi, Noriko Miyake
Human phenotype caused by biallelic KDM4B frameshift variant. Clinical genetics (2023)
Marne Salazar, Noriko Miyake, Sebastian Silva, Benjamín Solar, Gabriela M Papazoglu, Carla Gabriela Asteggiano, Naomichi Matsumoto
COG1-congenital disorders of glycosylation: Milder presentation and review. Clinical genetics 100 (3) (2021)
Noriko Miyake, Sebastian Silva, Mónica Troncoso, Nobuhiko Okamoto, Yoshiki Andachi, Mitsuhiro Kato, Chisato Iwabuchi, Mio Hirose, Atsushi Fujita, Yuri Uchiyama, Naomichi Matsumoto
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face. Clinical genetics (2021)
Masamune Sakamoto, Kouhei Den, Muzhirah Haniffa, Sebastian Silva, Mónica Troncoso, Paola Santander, Valeria Schonstedt, Ximena Stecher, Nobuhiko Okamoto, Kohei Hamanaka, Takeshi Mizuguchi, Satomi Mitsuhashi, Noriko Miyake, Naomichi Matsumoto
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction. Journal of human genetics 65 (9) (2020)
Sebastian Silva, Noriko Miyake, Carolina Tapia, Naomichi Matsumoto
The second point mutation in PREPL: a case report and literature review. Journal of human genetics 63 (5) (2018)
Khue Vu Nguyen, Sebastian Silva, Monica Troncoso, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene. Nucleosides, nucleotides & nucleic acids 36 (7) (2017)