Marta Dineiro - Publications

Enhanced Exome Sequencing Improves the Genetic Diagnosis of Deafblindness.

Journal: Genes

Published: January 27, 2026

A Novel Recurrent 200 kb CRYL1 Deletion Underlies DFNB1A Hearing Loss in Patients from Northwestern Spain.

Journal: Genes

Published: May 08, 2025

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: October 03, 2022

Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

Journal: British journal of cancer

Published: June 22, 2022

CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.

Journal: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery

Published: May 04, 2021

Radixin modulates the function of outer hair cell stereocilia.

Journal: Communications biology

Published: March 04, 2020

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Journal: Acta ophthalmologica

Published: December 20, 2019

Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene.

Journal: European journal of human genetics : EJHG

Published: August 02, 2019

Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit.

Journal: Acta otorrinolaringologica espanola

Published: February 18, 2019

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

Journal: BMC medical genomics

Published: March 20, 2018

A novel molecular diagnostics platform for somatic and germline precision oncology.

Journal: Molecular genetics & genomic medicine

Published: November 15, 2016