José Millan

22PUBLICATIONS
218CO-AUTHORS
Chemical and thermal processes in energy and combustionNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Gene mappingHaematological tumours
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Publications (22)

|Jul 29, 2026
COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.

|Jul 17, 2026
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

|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

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Frequent Collaborators

6 joint publications

Gema García-García

4 joint publications

Carlo Rivolta

4 joint publications

Karolina Kaminska

4 joint publications

Carmen Ayuso