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J

José M. Millán

laboratory of molecular

48H-index
229Paper Count
7.1KCitation Count
Published Papers 85
Publication Date
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SIR-2.3/SIRT4 loss enhances proteostasis and neuronal resilience via AMPK-induced autophagy in Huntington’s disease models
errCell Communication and Signaling
IF8.9
err2026-01-15
err0
errOAAI
errCristina Trujillo-del Río; Seda Koyuncu; Julia Tortajada-Pérez; Mar Collado-Pérez; Ana Pilar Gómez-Escribano; Carlos Mora; Christian Neri; Agustín Lahoz; Marta Roca; José María Millán; Yolanda Sanz; David Vilchez; Andrea del Valle Carranza; Rafael P. Vázquez-Manrique
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errSave
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies
errthe journal of molecular diagnostics
IF0
err2026-01-05
err0
PREAI
errPilar Barberán-Martínez; Mar Balanzá; Belén García-Bohórquez; Sofia Escobar-Parra; Romana García-Gil; Anselmo Feliciano-Sánchez; Teresa Jaijo; Elena Aller; Gema García-García; José M. Millán
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errSave
RetiGene, a comprehensive gene atlas for inherited retinal diseases
erramerican journal of human genetics
IF0
err2025-09-16
err0
errOAAI
errCarlo Rivolta; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K. Holtes; Marianthi Karali; Irma Lopez; Virginie G. Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P.M. Cremers; Chris F. Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K. Koenekoop; José M. Millán; Dror Sharon; Carmel Toomes; Mathieu Quinodoz
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errSave
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach
errEye
IF3.2
err2025-09-09
err0
errOAAI
errAnna Esteve-Garcia; Ariadna Padró-Miquel; Jaume Català-Mora; Cristina Sau; Delia Yubero; Zelia Corradi; Frans P. M. Cremers; Pilar Barberán-Martínez; José M. Millán; Gema García-García; Ilyana Ismael; Luis Arias; Estefania Cobos; Cinthia Aguilera
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errSave
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 7
IF4
err2025-08-21
err0
PREAI
errAlba Berzal-Serrano; Belén García-Bohórquez; Elena Aller; Teresa Jaijo; Inmaculada Pitarch-Castellano; Dolores Rausell; Gema García-García; José M. Millán
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Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis
errMolecular Diagnosis & Therapy
IF4.4
err2025-07-31
err0
errOAAI
errLidón Carretero-Vilarroig; Rosana Blanco-Máñez; Noelia Muñoz-Fernández; Isabel Ibáñez; Alba Berzal-Serrano; Ana Reula; Belén García-Bohórquez; Elena Aller; Gema García-García; Jose M. Millán; Miguel Armengot-Carceller; Teresa Jaijo
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errSave
Ciliary Motility and Ultrastructure in Bronchial Epithelium of Lung Transplant Recipients with Primary Ciliary Dyskinesia
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2025-05-14
err0
errOAAI
errArmengot, Miguel; Bancalari, Catalina; Carretero-Vilarroig, Lidon; Blanco-Manez, Rosana; Munoz-Fernandez, Noelia; Cases, Enrique; Millan, Jose M.; Almanzo, Santiago; Jaijo, Teresa
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errSave
Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome
errHUMAN GENOMICS
IF4.3
err2025-05-03
err0
errOAAI
errGarcia-Bohorquez, Belen; Marin-Reina, Purificacion; Aller, Elena; Barberan-Martinez, Pilar; Armengot, Miguel; Llorens-Salvador, Roberto; Almor-Palacios, Inmaculada Concepcion; Millan, Jose M.; Garcia-Garcia, Gema
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errSave
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies
errINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF4.9
err2025-04-18
err0
errOAAI
errRodilla, Cristina; Nunez-Moreno, Gonzalo; Benitez, Yolanda; de Alba, Marta Rodriguez; Blanco-Kelly, Fiona; Lopez-Alcojor, Aroa; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Del Pozo-Valero, Marta; Garcia-Garcia, Gema; Balanza, Mar; Villaverde, Cristina; Zurita, Olga; Jubin, Claire; Fund, Cedric; Delepine, Marc; Leduc, Aurelie; Deleuze, Jean-Francois; Millan, Jose M.; Minguez, Pablo; Corton, Marta; Ayuso, Carmen
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errSave
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-04-01
err0
errOAAI
errKaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo
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errSave
Patient specific differences in retinitis pigmentosa in vitro model
errACTA OPHTHALMOLOGICA
IF2.8
err2025-01-19
err0
PREAI
errLukovic, D; Garcia-Bohórquez, B; Garcia, GG; Gallardo, ME; Ayuso, C; Millán, JM
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errSave
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2025-01-14
err0
errOAAI
errBerzal-Serrano, Alba; Garcia-Bohorquez, Belen; Aller, Elena; Jaijo, Teresa; Pitarch-Castellano, Inmaculada; Rausell, Dolores; Garcia-Garcia, Gema; Millan, Jose M.
errShare
errSave
Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in Caenorhabditis elegans
errANTIOXIDANTS
IF6.6
err2025-01-10
err0
errOAAI
errTortajada-Perez, Julia; Carranza, Andrea del Valle; Trujillo-del Rio, Cristina; Collado-Perez, Mar; Millan, Jose Maria; Garcia-Garcia, Gema; Vazquez-Manrique, Rafael Pascual
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errSave
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-12-13
err1
errOAAI
errKarali, Marianthi; Garcia-Garcia, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik P. N.; Salameh, Manar; Barberan-Martinez, Pilar; Rodriguez-Munoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millan, Jose M.
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errSave
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2024-12-01
err0
errOAAI
errGarcia-Bohorquez, Belen; Barberan-Martinez, Pilar; Aller, Elena; Jaijo, Teresa; Minguez, Pablo; Rodilla, Cristina; Fernandez-Caballero, Lidia; Blanco-Kelly, Fiona; Ayuso, Carmen; Sanchis-Juan, Alba; Broekman, Sanne; de Vrieze, Erik; van Wijk, Erwin; Garcia-Garcia, Gema; Millan, Jose M.
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errSave
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8
errMOVEMENT DISORDERS
IF7.6
err2024-07-04
err1
errOAAI
errBaviera-Munoz, Raquel; Carretero-Vilarroig, Lidon; Pedro-Ibor, Ana; Jaijo, Teresa; Del Valle-Carranza, Andrea; Martinez-Torres, Irene; Millan, Jose M.; Bataller, Luis; Aller, Elena
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errSave
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
errJCI INSIGHT
IF6.1
err2023-11-08
err5
errOAAI
errBocquet, Beatrice; Borday, Caroline; Erkilic, Nejla; Mamaeva, Daria; Donval, Alicia; Masson, Christel; Parain, Karine; Kaminska, Karolina; Quinodoz, Mathieu; Perea-Romero, Irene; Garcia-Garcia, Gema; Jimenez-Medina, Carla; Boukhaddaoui, Hassan; Coget, Arthur; Leboucq, Nicolas; Calzetti, Giacomo; Gandolfi, Stefano; Percesepe, Antonio; Barili, Valeria; Uliana, Vera; Delsante, Marco; Bozzetti, Francesca; Scholl, Hendrik P. N.; Corton, Marta; Ayuso, Carmen; Millan, Jose M.; Rivolta, Carlo; Meunier, Isabelle; Perron, Muriel; Kalatzis, Vasiliki
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errSave
Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans
errEMBO REPORTS
IF6.2
err2023-04-27
err5
errOAAI
errGomez-Escribano, Ana P.; Mora-Martinez, Carlos; Roca, Marta; Walker, Denise S.; Panadero, Joaquin; Sequedo, Maria D.; Saini, Ratni; Knoelker, Hans-Joachim; Blanca, Jose; Burguera, Juan; Lahoz, Agustin; Canizares, Joaquin; Millan, Jose M.; Burton, Nick O.; Schafer, William R.; Vazquez-Manrique, Rafael P.
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errSave
Generation and characterization of human USH2A retinal disease model
errACTA OPHTHALMOLOGICA
IF2.8
err2022-12-20
err0
PREAI
errFlores, Ana; Garcia, Belen; Garcia, Gema; Mayordomo, Noelia Pimentel; Gallardo, Maria Esther; Garcia, Carmen Ayuso; Millan, Jose Maria; Lukovic, Dunja
errShare
errSave
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
errNEUROLOGY-GENETICS
IF3.7
err2022-12-01
err6
errOAAI
errBaviera-Munoz, Raquel; Carretero-Vilarroig, Lidon; Francisco Vazquez-Costa, Juan; Morata-Martinez, Carlos; Campins-Romeu, Marina; Muelas, Nuria; Sastre-Bataller, Isabel; Martinez-Torres, Irene; Perez-Garcia, Julia; Sivera, Rafael; Sevilla, Teresa; Vilchez, Juan J.; Jaijo, Teresa; Espinos, Carmen; Millan, Jose M.; Bataller, Luis; Aller, Elena
errShare
errSave

Research Directions

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Co-authors
Cooperation Journals
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Håkon Håkonarson
H-index: 177 · Papers: 1.5K
C
Christine Van Broeckhoven
H-index: 141 · Papers: 1.2K
M
Massimo Mangino
H-index: 134 · Papers: 552
J
J. Beckmann
H-index: 123 · Papers: 883
L
Luis Paz‐Ares
H-index: 116 · Papers: 1.4K
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