José María Millán

20PUBLICATIONS
208CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesGene mappingHaematological tumoursDisease surveillance
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Publications (20)

|May 07, 2025
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez

|Jan 23, 2025
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Dec 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

Marianthi Karali, Gema García-García, Karolina Kaminska

|Sep 09, 2023
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.

Elisa González-Romero, Cristina Martínez-Valiente, Gema García-García

|Jun 19, 2023
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Nuria Muelas

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