2021
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
Drelichman G, Escobar N, Soberon B, Basack N, Frabasil J, Schenone A, Aguilar G, Larroudé M, Knight J, Zhao D, Ruan J, Mistry PK, Disease A. Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease. Molecular Genetics And Metabolism Reports 2021, 29: 100820. PMID: 34820281, PMCID: PMC8600149, DOI: 10.1016/j.ymgmr.2021.100820.Peer-Reviewed Original ResearchSevere skeletal manifestationsDiagnóstico y tratamientoSevere skeletal phenotypeGenotype/phenotype correlationGrupo ArgentinoNational cohortDisease manifestationsSkeletal manifestationsGaucher diseaseSkeletal diseaseLarge burdenDiseaseSkeletal phenotypePhenotype correlationComplex allelesArgentine groupCollaborative studyManifestationsChildhoodCollaborative groupsGroupHigh frequencyCohort
2015
Tu1044 Sofosbuvir-Based Interferon-Free Regimens for Hepatitis C Infection in Patients With Compensated and Decompensated Cirrhosis: Interim Analysis of a Prospective Observational Cohort
Do A, Lim J, Liapakis A, Babas G, Caldwell C, Fortune B, Emre S, Kulkarni S, Lempit S, Mistry P, Mulligan D, Rodriguez-Davalos M, Schilsky M, Tichy E, Yoo P, Jakab S. Tu1044 Sofosbuvir-Based Interferon-Free Regimens for Hepatitis C Infection in Patients With Compensated and Decompensated Cirrhosis: Interim Analysis of a Prospective Observational Cohort. Gastroenterology 2015, 148: s-1094-s-1095. DOI: 10.1016/s0016-5085(15)33733-1.Peer-Reviewed Original Research