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Publications by Miriam Aguilar

Whole Genome Sequencing for Mutation Discovery in a Single Case of Lysosomal Storage Disease (MPS Type 1) in the Dog

Scientific Reports

Multidisciplinary

English

Related publications

“N of 1” Case Reports in the Era of Whole-Genome Sequencing

Journal of Clinical Investigation

English

Whole-Genome Sequencing and Disease-Gene Detection

BMC Proceedings

Molecular Biology

English

A Survey of Single Nucleotide Polymorphisms Identified From Whole-Genome Sequencing and Their Functional Effect in the Porcine Genome,

Animal Genetics

English

Target Amplicon Sequencing for Genotyping Genome-Wide Single Nucleotide Polymorphisms Identified by Whole-Genome Resequencing in Peanut

English

Intrathecal Administration of AAV Vectors for the Treatment of Lysosomal Storage in the Brains of MPS I Mice

Molecular Medicine

Molecular Biology

English

Prenatal Whole Genome Sequencing

Hastings Center Report

English

Evaluating Alignment and Variant-Calling Software for Mutation Identification in C. Elegans by Whole-Genome Sequencing

Multidisciplinary

English

Rapid Whole Genome Sequencing Identifies a Novel AIRE Variant Associated With Autoimmune Polyendocrine Syndrome Type 1

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Whole Genome Sequencing and the Zygomycota

Fungal Genomics & Biology

English