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List of works by Guillermo Antiñolo

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

scientific article published on 04 March 2022

Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses

scientific article published on 07 October 2020

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

scientific article

LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer

scientific article published on 07 October 2019

Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.

scientific article published on 14 November 2017

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

scientific article published in Scientific Reports

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

scientific article published on 3 October 2016

Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

scientific article published on 12 February 2020

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