Filippo E. Vairo

2350 Ramiro Barcelos St
Porto Alegre, RS 90035903, Brazil

Last Updated: 09/26/2026

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Found 64 publications

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Journal: Molecular genetics and metabolism

Published: February 26, 2026

Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics.

Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics.

Journal: Clinical genetics

Published: February 11, 2026

Genetic counseling assistant-led education supports efficiency in rare disease care.

Genetic counseling assistant-led education supports efficiency in rare disease care.

Journal: Journal of genetic counseling

Published: October 21, 2025

Effects of Semaglutide on BMI and Cardiometabolic Profile in Adolescents With Variants in Monogenic Obesity-Related Genes.

Effects of Semaglutide on BMI and Cardiometabolic Profile in Adolescents With Variants in Monogenic Obesity-Related Genes.

Journal: Pediatric obesity

Published: July 10, 2025

Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage.

Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage.

Journal: Molecular genetics & genomic medicine

Published: May 02, 2025

Clinical and Genetic Predictors of Non-Alcoholic Steatotic Liver Disease and Fibrosis in Lean Individuals.

Clinical and Genetic Predictors of Non-Alcoholic Steatotic Liver Disease and Fibrosis in Lean Individuals.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: April 07, 2025

Disease progression in Sanfilippo type B: Case series of Brazilian patients.

Disease progression in Sanfilippo type B: Case series of Brazilian patients.

Journal: Genetics and molecular biology

Published: October 04, 2023

Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.

Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.

Journal: Human genetics

Published: July 06, 2023

GBA1 variants in Brazilian Gaucher disease patients.

GBA1 variants in Brazilian Gaucher disease patients.

Journal: Molecular genetics and metabolism reports

Published: April 30, 2023

An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.

An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.

Journal: Genetics and molecular biology

Published: November 07, 2022

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Journal: Genome medicine

Published: November 23, 2021

Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: September 03, 2021

Showing 1-12 of 64

Last Updated: 09/26/2026