Resultados y publicaciones

• Correlaciones genotipo-fenotipo
• Cohortes de ERs de la red con correlación genotipo-fenotipo
• Aproximaciones terapéuticas en las ER en estudio
• Desarrollo de estrategias basadas en la Biología de Sistemas para predecir nuevos genes candidatos asociados a las ER en estudio
• Consentimiento Informado para Diagnóstico
• Estudios de prevalencia de las ER en estudio
• Formato Común de Informe NGS
• Número de diagnósticos
• Modelos celulares generados
• Estudios funcionales
• Pacientes incluidos en el programa ERnoD (Enfermedades Raras no Diagnosticadas)

Tarilonte M, et al. Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. Front Genet. 2018 Oct 17;9:479. doi: 10.3389/fgene.2018.00479. eCollection 2018. PMID: 30386378.

Rodriguez-Laguna L, Agra N, Ibañez K, Oliva-Molina G, Gordo G, Khurana N, Hominick D, Beato M, Colmenero I, Herranz G, Torres Canizalez JM, Rodríguez Pena R, Vallespín E, Martín-Arenas R, Del Pozo Á, Villaverde C, Bustamante A, Ayuso C, Lapunzina P, Lopez-Gutierrez JC, Dellinger MT, Martinez-Glez V. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly. J Exp Med. 2019 Feb 4;216(2):407-418. doi: 10.1084/jem.20181353. Epub 2018 Dec 27. PMID: 30591517.

Cerrada V, García-López M, Moreno-Izquierdo A, Villaverde C, Zurita O, Martin-Merida M I, Arenas J, Ayuso C, Gallardo M E. Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys. Stem Cell Res. 2019 Oct;40:101566. doi: 10.1016/j.scr.2019.101566. Epub 2019 Aug 29. PMID: 31509793.

Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P. Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment. J Clin Med. 2019 Nov 1;8(11):1811. doi: 10.3390/jcm8111811. PMID: 31683770; PMCID: PMC6912785.

Galera-Monge T, Zurita-Díaz F, Canals I, Hansen MG, Rufián-Vázquez L, Ehinger JK, Elmér E, Martin MA, Garesse R, Ahlenius H, Gallardo ME. Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons. Int J Mol Sci. 2020 Apr 30;21(9):3191. doi: 10.3390/ijms21093191. PMID: 32366037; PMCID: PMC7247580.

González-Quintana A, Trujillo-Tiebas MJ, Fernández-Perrone AL, Blázquez A, Lucia A, Morán M, Ugalde C, Arenas J, Ayuso C, Martín MA. Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation. Mol Genet Metab. 2020 Nov;131(3):341-348. doi: 10.1016/j.ymgme.2020.10.008. Epub 2020 Oct 16. PMID: 33093004.

Smitha Kumbl et al. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. PMID: 34859529

Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Karen Stals, Caroline Maxton, Johannes R Lemke, John A Bernat, Hannah M Bombei, Nicola Foulds, David Hunt, Alma Kuechler, Jasmin Beygo, Petra Stöbe, Arjan Bouman, Maria Palomares-Bralo, Fernando Santos-Simarro, Sixto Garcia-Minaur, Marta Pacio-Miguez, Bernt Popp, Georgia Vasileiou, Moritz Hebebrand, André Reis, Sarah Schuhmann, Mandy Krumbiegel, Natasha J Brown, Peter Sparber, Lyusya Melikyan, Liudmila Bessonova, Tatiana Cherevatova, Artem Sharkov, Natalia Shcherbakova, Tabib Dabir, Usha Kini, Eva M C Schwaibold, Tobias B Haack, Marta Bertoli, Sabine Hoffjan, Ruth Falb, Marwan Shinawi, Heinrich Sticht, Christiane Zweier. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265. PMID: 34505148.

Lance H Rodan et al. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct;23(10):2016. doi: 10.1038/s41436-021-01306-7. PMID: 34522029.

Agustí Rodríguez-Palmero et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. PMID: 33597769.

Pauline E Schneeberger et al. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. PMID: 32761064.

Lance H Rodan et al. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. PMID: 34163037.

Jair Tenorio et al. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. PMID: 31685998.

Matthias Baumann et al. Further delineation of putative ACTB loss-of-function variants: A 4-patient series. Hum Mutat. 2020 Apr;41(4):753-758. doi: 10.1002/humu.23970. Epub 2020 Jan 16. PMID: 31898838.

Jameson Patak et al. MAGEL2-related disorders: A study and case series. Clin Genet. 2019 Dec;96(6):493-505. doi: 10.1111/cge.13620. Epub 2019 Aug 22. PMID: 31397880.

Andrea Angius et al. Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28. PMID: 30859550.

Parisa Hemati et al. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. PMID: 30194818.

Luis Fernández et al. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype. Rev Esp Cardiol (Engl Ed). 2018 Jul;71(7):545-552. doi: 10.1016/j.rec.2017.10.013. Epub 2017 Nov 14. PMID: 29146485.

Fernando Santos-Simarro et al. Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. Eur J Med Genet. 2021 Nov;64(11):104338. doi: 10.1016/j.ejmg.2021.104338. Epub 2021 Sep 7. PMID: 34500087.

Lucía Quintana Castanedo et al. Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Pediatr Dermatol. 2020 May;37(3):517-519. doi: 10.1111/pde.14113. Epub 2020 Feb 11. PMID: 32045494.

Sulagna Tina Kushary et al. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. Am J Med Genet A. 2021 Dec;185(12):3740-3753. doi: 10.1002/ajmg.a.62445. Epub 2021 Jul 31. PMID: 34331327.

Jair Tenorio-Castaño et al. Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes (Basel). 2021 May 13;12(5):738. doi: 10.3390/genes12050738. PMID: 34068396.

Sofía M Siccha et al. Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature. Am J Med Genet A. 2021 Mar;185(3):856-865. doi: 10.1002/ajmg.a.62010. Epub 2020 Dec 11. PMID: 33305909.

Marta Pacio Miguez et al. Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18. PMID: 32808430.

G Gordo et al. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13. PMID: 28892148.

Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á, Dopazo J. CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137. doi: 10.1093/nar/gkaa794. PMID: 32990755; PMCID: PMC7778906.

Tort F, Barredo E, Parthasarathy R, Ugarteburu O, Ferrer-Cortès X, García-Villoria J, Gort L, González-Quintana A, Martín MA, Fernández-Vizarra E, Zeviani M, Ribes A. Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution. Mol Genet Metab. 2020 Nov;131(3):349-357. doi: 10.1016/j.ymgme.2020.10.005. Epub 2020 Oct 13. PMID: 33153867.

González-Quintana A, Trujillo-Tiebas MJ, Fernández-Perrone AL, Blázquez A, Lucia A, Morán M, Ugalde C, Arenas J, Ayuso C, Martín MA. Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation. Mol Genet Metab. 2020 Nov;131(3):341-348. doi: 10.1016/j.ymgme.2020.10.008. Epub 2020 Oct 16. PMID: 33093004.

Cotrina-Vinagre FJ, Rodríguez-García ME, Martín-Hernández E, Durán-Aparicio C, Merino-López A, Medina-Benítez E, Martínez-Azorín F. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. Mol Genet Metab. 2021 Feb 27:S1096-7192(21)00055-X. doi: 10.1016/j.ymgme.2021.02.007. Epub ahead of print. PMID: 33707149.

Cervera Bravo A, Osuna Marco MP, Morán-Jiménez MJ, Martín-Hernández E. Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C. J Pediatr Hematol Oncol. 2021 Mar 3. doi: 10.1097/MPH.0000000000002135. Epub ahead of print. PMID: 33661177.

Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. PMID: 32875335.

Panadés-de Oliveira L, Montoya J, Emperador S, Ruiz-Pesini E, Jericó I, Arenas J, Hernández-Lain A, Blazquez A, Martin MA, Dominguez-Gonzalez C. A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues. Mitochondrion 2020; 50:14–8. PMID: 31639449.

Rodríguez-García ME, Cotrina-Vinagre FJ, Gómez-Cano MLÁ, Martínez de Aragón A, Martín-Hernández E, Martínez-Azorín F. MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. Am J Med Genet A. 2020 Jun;182(6):1483-1490. doi: 10.1002/ajmg.a.61560. Epub 2020 Mar 21. PMID: 32198973.

Peralta S, González-Quintana A, Ybarra M, Delmiro A, Pérez-Pérez R, Docampo J, Arenas J, Blazquez B, Arenas J, Ugalde C, Martín MA. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. Mol Genet Metab 2019;128:452–62. PMID: 31727539.

de Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Olivé M, Sánchez-Calvín MT, Gonzalo-Martínez JF, Domínguez-González C. Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations. Brain. 2019 Dec 1;142(12):e66. doi: 10.1093/brain/awz317. PMID: 31612903.

Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Martínez de Aragón A, Hernández-Sánchez L, Carnicero-Rodríguez P, Martín-Hernández E, Martínez-Azorín F. A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. Eur J Hum Genet. 2019 Sep;27(9):1369-1378. doi: 10.1038/s41431-019-0418-1. Epub 2019 May 3. PMID: 31053780; PMCID: PMC6777539.

de Fuenmayor-Fernández de la Hoz CP, Morís G, Jiménez-Mallebrera C, Badosa C, Hernández-Laín A, Blázquez Encinar A, Martín MÁ, Domínguez-González C. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency. Mol Genet Metab Rep. 2021 Jan 6;26:100701. doi: 10.1016/j.ymgmr.2020.100701. PMID: 33457207; PMCID: PMC7797901.

Garcia-Solaesa V, Serrano-Lorenzo P, Ramos-Arroyo MA, Blázquez A, Pagola-Lorz I, Artigas-López M, Arenas J, Martín MA, Jericó-Pascual I. A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population. Genes (Basel). 2019 Oct 10;10(10):785. doi: 10.3390/genes10100785. PMID: 31658606; PMCID: PMC6826351.

Rodríguez-García ME, Cotrina-Vinagre FJ, Arranz-Canales E, Aragón AM, Hernández-Sánchez L, Rodríguez-Fornés F, Carnicero-Rodríguez P, Morales-Conejo M, Martín-Hernández E, Martínez-Azorín F. A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem. J Genet. 2020;99:7. PMID: 32089526.

Quintana Castanedo L, Sánchez Orta A, Maseda Pedrero R, Santos Simarro F, Palomares Bralo M, Feito Rodríguez M, de Lucas Laguna R. Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Pediatr Dermatol. 2020 May;37(3):517-519. doi: 10.1111/pde.14113. Epub 2020 Feb 11. PMID: 32045494.

Peces R, Mena R, Peces C, Santos-Simarro F, Fernández L, Afonso S, Lapunzina P, Selgas R, Nevado J. Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report. Mol Genet Genomic Med. 2019 Apr;7(4):e00568. doi: 10.1002/mgg3.568. Epub 2019 Feb 19. PMID: 30784238.

Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S; SOGRI Consortium, Cigudosa JC, Pérez-Jurado LA, Lapunzina P. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. Clin Genet. 2020 Mar;97(3):467-476. doi: 10.1111/cge.13689. Epub 2020 Jan 23. PMID: 31972898.

Rodríguez-Contreras FJ, Marbán-Calzón M, Vallespín E, Del Pozo Á, Solís-López M, Lobato-Vidal N, Fernández-Elvira M, Del Valle Rex-Romero M, Heath KE, González-Casado I, Campos-Barros Á. Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency. Am J Med Genet A. 2019 Aug;179(8):1591-1597. doi: 10.1002/ajmg.a.61201. Epub 2019 May 23. PMID: 31120642.

Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study, Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4. PMID: 29974297.

Marakhonov AV, Voskresenskaya AA, Ballesta MJ, Konovalov FA, Vasilyeva TA, Blanco-Kelly F, Pozdeyeva NA, Kadyshev VV, López-González V, Guillen E, Ayuso C, Zinchenko RA, Corton M. Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis. Orphanet J Rare Dis. 2020 Aug 13;15(1):207. doi: 10.1186/s13023-020-01484-8. PMID: 32791987; PMCID: PMC7427288.

Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. J Med Genet. 2021 Aug;58(8):570-578. doi: 10.1136/jmedgenet-2020-107150. Epub 2020 Aug 17. PMID: 32817297.

Bonet-Fernández JM, Aroca-Aguilar JD, Corton M, Ramírez AI, Alexandre-Moreno S, García-Antón MT, Salazar JJ, Ferre-Fernández JJ, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Méndez-Hernández CD, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa JM, García-Feijoo J, Escribano J. CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. Hum Genet. 2020 Oct;139(10):1209-1231. doi: 10.1007/s00439-020-02164-0. Epub 2020 Apr 9. PMID: 32274568.

Beigi F, Del Pozo-Valero M, Martin-Merida I, Vahidi Mehrjardi MY, Manaviat MR, Sherafat A, Ayuso C, Ghasemi N. Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene. Ophthalmic Genet. 2020 Feb;41(1):90-92. doi: 10.1080/13816810.2020.1720743. Epub 2020 Feb 10. PMID: 32039643.

Zazo Seco C, Plaisancié J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N. Identification of PITX3 mutations in individuals with various ocular developmental defects. Ophthalmic Genet. 2018 Jun;39(3):314-320. doi: 10.1080/13816810.2018.1430243. Epub 2018 Feb 6. PMID: 29405783.

Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, Muñoz-Hernández MC, Vega AI, Pérez-Cerdá C, García-Martín ML, Pérez B. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening. Journal of Inherited Metabolic Diseases J Inherit Metab Dis 2019 May;42(3):407-413. doi: 10.1002/jimd.12063. PMID: 30671984.

Bermejo-Guerrero L, de Fuenmayor-Fernández de la Hoz CP, Serrano-Lorenzo P, Blázquez-Encinar A, Gutiérrez-Gutiérrez G, Martínez-Vicente L, Galán-Dávila L, García-García J, Arenas J, Muelas N, Hernández-Laín A, Domínguez-González C, Martín MA. Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations. J Clin Med. 2021;11(1):22. PMID: 35011763.

Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group, Martín MA*, Montoya J*, Artuch R* (*corresponding authors). The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. Genes (Basel). 2021 Oct 9;12(10):1590. PMID: 34680984.

Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M. Retinal Structure in RPE65-Associated Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917; PMCID: PMC7401957.

Del Pozo-Valero M, Riveiro-Alvarez R, Blanco-Kelly F, Aguirre-Lamban J, Martin-Merida I, Iancu IF, Swafiri S, Lorda-Sanchez I, Rodriguez-Pinilla E, Trujillo-Tiebas MJ, Jimenez-Rolando B, Carreño E, Mahillo-Fernandez I, Rivolta C, Corton M, Avila-Fernandez A, Garcia-Sandoval B, Ayuso C. Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. Am J Ophthalmol. 2020 Nov;219:195-204. doi: 10.1016/j.ajo.2020.06.027. Epub 2020 Jun 30. PMID: 32619608.

Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium. Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial. JAMA Ophthalmol. 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. PMID: 33057649; PMCID: PMC7563671.

Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. J Med Genet. 2021 Aug;58(8):570-578. doi: 10.1136/jmedgenet-2020-107150. Epub 2020 Aug 17. PMID: 32817297.

Fuster-García C, García-García G, Jaijo T, Blanco-Kelly F, Tian L, Hakonarson H, Ayuso C, Aller E, Millán JM. Expanding the Genetic Landscape of Usher-Like Phenotypes. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4701-4710. doi: 10.1167/iovs.19-27470. PMID: 31725169.

Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Hum Mutat. 2019 Aug;40(8):1145-1155. doi: 10.1002/humu.23768. Epub 2019 May 6. PMID: 31058429.

Del Pozo-Valero M, Martin-Merida I, Jimenez-Rolando B, Arteche A, Avila-Fernandez A, Blanco-Kelly F, Riveiro-Alvarez R, Van Cauwenbergh C, De Baere E, Rivolta C, Garcia-Sandoval B, Corton M, Ayuso C. Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1. Am J Ophthalmol. 2019 Nov;207:204-214. doi: 10.1016/j.ajo.2019.05.014. Epub 2019 May 24. PMID: 31129250.

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Román-Rodríguez FJ, Ugalde L, Álvarez L, Díez B, Ramírez MJ, Risueño C, Cortón M, Bogliolo M, Bernal S, March F, Ayuso C, Hanenberg H, Sevilla J, Rodríguez-Perales S, Torres-Ruiz R, Surrallés J, Bueren JA, Río P. NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia. Cell Stem Cell. 2019 Nov 7;25(5):607-621.e7. doi: 10.1016/j.stem.2019.08.016. Epub 2019 Sep 19. PMID: 31543367.

Cerrada V, García-López M, Moreno-Izquierdo A, Villaverde C, Zurita O, Martin-Merida MI, Arenas J, Ayuso C, Gallardo ME. Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys. Stem Cell Res. 2019 Oct;40:101566. doi: 10.1016/j.scr.2019.101566. Epub 2019 Aug 29. PMID: 31509793.

Lukovic D, Artero Castro A, Kaya KD, Munezero D, Gieser L, Davó-Martínez C, Corton M, Cuenca N, Swaroop A, Ramamurthy V, Ayuso C, Erceg S. Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. Sci Rep. 2020 Mar 25;10(1):5426. doi: 10.1038/s41598-020-62047-2. PMID: 32214115; PMCID: PMC7096529.

Zurita-Díaz F, Ortuño-Costela MDC, Moreno-Izquierdo A, Galbis L, Millán JM, Ayuso C, Garesse R, Gallardo ME. Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene. Stem Cell Res. 2018 Aug;31:152-156. doi: 10.1016/j.scr.2018.08.002. Epub 2018 Aug 2. PMID: 30096711.

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Artero Castro A, Long K, Bassett A, Machuca C, León M, Ávila-Fernandez A, Cortón M, Vidal-Puig T, Ayuso C, Lukovic D, Erceg S. Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK. Stem Cell Res. 2019 Jan;34:101341. doi: 10.1016/j.scr.2018.11.003. Epub 2018 Nov 16. PMID: 30612079.

Artero-Castro A, Long K, Bassett A, Ávila-Fernandez A, Cortón M, Vidal-Puig A, Jendelova P, Rodriguez-Jimenez FJ, Clemente E, Ayuso C, Slaven E. Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells. Int J Mol Sci. 2021 Feb 20;22(4):2092. doi: 10.3390/ijms22042092. PMID: 33672445; PMCID: PMC7923278.

Lukovic D, Artero Castro A, León M, Del Buey Furió V, Cortón M, Ayuso C, Erceg S. Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1. Stem Cell Res. 2018 Dec;33:151-155. doi: 10.1016/j.scr.2018.10.012. Epub 2018 Oct 5. PMID: 30366342.

Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Ensayos clínicos en enfermedades raras financiados por los participantes [Participant-funded clinical trials on rare diseases]. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. Spanish. doi: 10.1016/j.anpedi.2020.03.019. Epub 2020 Jun 1. PMID: 32499195.

Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Participant-funded clinical trials on rare diseases. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. doi: 10.1016/j.anpede.2020.03.005. Epub 2020 Oct 10. PMID: 34092344.

Dal-Re R, Ayuso C. Facilitar el acceso a toda la informacion debe ser una obligacion para las revistas medicas [Easing access to all information should be mandatory to medical journals]. Rev Neurol. 2018 Feb 16;66(4):135. Spanish. PMID: 29435970.

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