Publications by authors named "Sebastian Silva"

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Intracranial haemorrhage spreading through the canal of Gratiolet.
Felipe Andrés Núñez, Sebastián Silva, Gino Maguida

Pract Neurol· October 2025

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Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Jihoon G Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Sebastian Silva

Genome Med· August 2025

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Sequence variability of BamA and FadL candidate vaccinogens suggests divergent evolutionary paths of outer membrane proteins.
Everton B Bettin, Farhang Aghakhanian, Christopher M Hennelly, Wentao Chen, Timothy C Davenport, Sebastián Silva

J Bacteriol· August 2025

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A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.
Sebastián Silva, Viviana Venegas, Marcela Valenzuela, Álvaro Retamales-Moreno, Carolina Muñoz-Castro

Clin Genet· June 2025

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Kidney injury after paediatric cardiac surgery. Different predictors to be used: pRIFLE, KDIGO and pPROCK. No answer as yet.
Sebastian Silva, Guillermo Lema

Eur J Anaesthesiol· June 2025

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A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.
Sanami Takada, Silvanna Gallo, Sebastian Silva, Hiroki Tanaka, Oscar Pincheira

J Clin Immunol· December 2024

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Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report.
Sebastián Silva, Mónica Rosas, Benjamín Guerra, Marión Muñoz, Atsushi Fujita

Brain Dev· August 2024

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Treponema pallidum genetic diversity and its implications for targeted vaccine development: A cross-sectional study of early syphilis cases in Southwestern Colombia.
Juan C Salazar, Fabio Vargas-Cely, Jonny A García-Luna, Lady G Ramirez, Everton B Bettin, Sebastián Silva

PLoS One· July 2024

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The Immunoregulatory and Regenerative Potential of Activated Human Stem Cell Secretome Mitigates Acute-on-Chronic Liver Failure in a Rat Model.
Barbara Cuadra, Veronica Silva, Ya-Lin Huang, Yael Diaz, Claudio Rivas, Sebastian Silva

Int J Mol Sci· February 2024

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Human phenotype caused by biallelic KDM4B frameshift variant.
Sanami Takada, Sebastián Silva, Ivonne Zamorano, Andrea Pérez, Chisato Iwabuchi

Clin Genet· January 2024

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Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.
José Miguel Cárdenas, Diane Vergara, Scarlet Witting, Fernanda Balut, Patricio Guerra, Sebastián Silva

Mol Syndromol· October 2023

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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
Dianalee McKnight, Ana Morales, Kathryn E Hatchell, Sara L Bristow, Joshua L Bonkowsky, Sebastian Silva, Carlos Alberto Reyes-Silva

JAMA Neurol· December 2022

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A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.
Noriko Miyake, Sebastián Silva, Mónica Troncoso, Nobuhiko Okamoto, Yoshiki Andachi

Clin Genet· March 2022

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COG1-congenital disorders of glycosylation: Milder presentation and review.
Marne Salazar, Noriko Miyake, Sebastián Silva, Benjamín Solar, Gabriela M Papazoglu

Clin Genet· September 2021

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StructureMan: A Structure Manipulation Tool to Study Large Scale Biomolecular Interactions.
Yuejiao Xian, Yixin Xie, Sebastian Miki Silva, Chitra B Karki, Weihong Qiu

Front Mol Biosci· January 2021

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A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Masamune Sakamoto, Den Kouhei, Muzhirah Haniffa, Sebastián Silva, Mónica Troncoso

J Hum Genet· September 2020

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Preventing presbycusis in mice with enhanced medial olivocochlear feedback.
Luis E Boero, Valeria C Castagna, Gonzalo Terreros, Marcelo J Moglie, Sebastián Silva

Proc Natl Acad Sci U S A· May 2020

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Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome.
Roberto Caraballo, Sebastián Silva, Lucas Beltran, Agustin Calvo, Ricardo Caballero

Epilepsy Res· July 2019

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The Roles of Electrostatic Interactions in Capsid Assembly Mechanisms of Giant Viruses.
Yuejiao Xian, Chitra B Karki, Sebastian Miki Silva, Lin Li, Chuan Xiao

Int J Mol Sci· April 2019

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SOFT syndrome in a patient from Chile.
Ken Saida, Sebastian Silva, Benjamin Solar, Atsushi Fujita, Kohei Hamanaka

Am J Med Genet A· March 2019

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p27 down-regulation as achieved by two clinically feasible means did not induce proliferation of supporting cells in the rat neonatal cochlea in vivo.
Sebastián A Silva, Juan C Maass

Hear Res· March 2019

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The second point mutation in PREPL: a case report and literature review.
Sebastian Silva, Noriko Miyake, Carolina Tapia, Naomichi Matsumoto

J Hum Genet· May 2018

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Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Khue Vu Nguyen, Sebastian Silva, Monica Troncoso, Robert K Naviaux, William L Nyhan

Nucleosides Nucleotides Nucleic Acids· July 2017

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Patterns of spatial and temporal distribution of humpback whales at the southern limit of the Southeast Pacific breeding area.
Chiara Guidino, Miguel A Llapapasca, Sebastian Silva, Belen Alcorta, Aldo S Pacheco

PLoS One· April 2016

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