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Scopus Author ID: 35760956400
SciProfiles: 1949150

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Instituto de Investigación Sanitaria La Fe: Valencia, ES

2021-05 to present | Investigadora Emergente
Employment
Source: Self-asserted source
Gema García-García

Works (45)

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community

International Journal of Neonatal Screening
2025-01-14 | Journal article
DOI: 10.3390/ijns11010007
Contributors: Alba Berzal-Serrano; Belén García-Bohórquez; Elena Aller; Teresa Jaijo; Inmaculada Pitarch-Castellano; Dolores Rausell; Gema García-García; José M. Millán
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Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in Caenorhabditis elegans

Antioxidants
2025-01-10 | Journal article
DOI: 10.3390/antiox14010078
Contributors: Julia Tortajada-Pérez; Andrea del Valle Carranza; Cristina Trujillo-del Río; Mar Collado-Pérez; José María Millán; Gema García-García; Rafael Pascual Vázquez-Manrique
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Outcomes of A Pilot Newborn Screening Program for Spinal Muscular Atrophy in A Spanish Region

2024-12-03 | Preprint
DOI: 10.20944/preprints202412.0070.v1
Contributors: Alba Berzal-Serrano; Belén García-Bohórquez; Elena Aller; Teresa Jaijo; Inmaculada Pitarch-Castellano; Dolores Rausell; Gema García-García; José M. Millán
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Deletion of exons 45 to 55 in theDMDgene: from the therapeutic perspective to thein vitromodel

2023-09-14 | Preprint
DOI: 10.1101/2023.09.13.557649
Contributors: Javier Poyatos-García; Patricia Soblechero-Martín; Alessandro Liquori; Andrea López-Martínez; Elisa González-Romero; Rafael P. Vázquez-Manrique; Nuria Muelas; Gema García-García; Jessica Ohana; Virginia Arechavala-Gomeza et al.
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Crossref

PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines

Cancers
2023-08-25 | Journal article
DOI: 10.3390/cancers15174263
Contributors: Elisa González-Romero; Cristina Martínez-Valiente; Gema García-García; Antonio Rosal-Vela; José María Millán; Miguel Ángel Sanz; Guillermo Sanz; Alessandro Liquori; José Vicente Cervera; Rafael P. Vázquez-Manrique
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Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

Scientific Reports
2022-12 | Journal article
DOI: 10.1038/s41598-021-03925-1
Part of ISSN: 2045-2322
Source: Self-asserted source
Gema García-García

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

International Journal of Molecular Sciences
2022-11-12 | Journal article
DOI: 10.3390/ijms232213964
Contributors: María del Carmen Ortuño-Costela; Victoria Cerrada; Ana Moreno-Izquierdo; Inés García-Consuegra; Camille Laberthonnière; Mégane Delourme; Rafael Garesse; Joaquín Arenas; Carla Fuster García; Gema García García et al.
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Crossref
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Preferred source (of 2)‎

Genetic Testing for Rare Diseases

Diagnostics
2022-03 | Journal article | Author
DOI: 10.3390/diagnostics12040809
Contributors: José Millán; Gema García-García
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Multidisciplinary Digital Publishing Institute
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Scientific Reports
2021 | Journal article
DOI: 10.1038/s41598-021-81093-y
EID:

2-s2.0-85100124883

Part of ISSN: 20452322
Contributors: Perea-Romero, I.; Gordo, G.; Iancu, I.F.; Del Pozo-Valero, M.; Almoguera, B.; Blanco-Kelly, F.; Carreño, E.; Jimenez-Rolando, B.; Lopez-Rodriguez, R.; Lorda-Sanchez, I. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

USH2A is a Meissner’s corpuscle protein necessary for normal vibration sensing in mice and humans

Nature Neuroscience
2021 | Journal article
DOI: 10.1038/s41593-020-00751-y
EID:

2-s2.0-85097241903

Part of ISSN: 15461726 10976256
Contributors: Schwaller, F.; Bégay, V.; García-García, G.; Taberner, F.J.; Moshourab, R.; McDonald, B.; Docter, T.; Kühnemund, J.; Ojeda-Alonso, J.; Paricio-Montesinos, R. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A : implications for future clinical trials

Acta Ophthalmologica
2021-12 | Journal article
DOI: 10.1111/aos.14795
Part of ISSN: 1755-375X
Part of ISSN: 1755-3768
Source: Self-asserted source
Gema García-García

CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES

Retina
2021-09 | Journal article
DOI: 10.1097/iae.0000000000003103
Part of ISSN: 0275-004X
Source: Self-asserted source
Gema García-García

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

Human Genetics
2021-07-30 | Journal article
DOI: 10.1007/s00439-021-02324-w
Part of ISSN: 0340-6717
Part of ISSN: 1432-1203
Source: Self-asserted source
Gema García-García

Updating the Genetic Landscape of Inherited Retinal Dystrophies

Frontiers in Cell and Developmental Biology
2021-07-13 | Journal article
DOI: 10.3389/fcell.2021.645600
Part of ISSN: 2296-634X
Source: Self-asserted source
Gema García-García

Usher Syndrome: Genetics of a Human Ciliopathy

International Journal of Molecular Sciences
2021-06-23 | Journal article
DOI: 10.3390/ijms22136723
Part of ISSN: 1422-0067
Source: Self-asserted source
Gema García-García

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

Frontiers in Genetics
2020 | Journal article
DOI: 10.3389/fgene.2020.00623
EID:

2-s2.0-85088424716

Part of ISSN: 16648021
Contributors: Vaché, C.; Puechberty, J.; Faugère, V.; Darmaisin, F.; Liquori, A.; Baux, D.; Blanchet, C.; Garcia-Garcia, G.; Meunier, I.; Pellestor, F. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Application of crispr tools for variant interpretation and disease modeling in inherited retinal dystrophies

Genes
2020 | Journal article
DOI: 10.3390/genes11050473
EID:

2-s2.0-85083980720

Part of ISSN: 20734425
Contributors: Fuster-García, C.; García-Bohórquez, B.; Rodríguez-Muñoz, A.; Millán, J.M.; García-García, G.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

Molecular Vision
2020 | Journal article
EID:

2-s2.0-85082441672

Part of ISSN: 10900535
Contributors: García-García, G.; Sanchez-Navarro, I.; Aller, E.; Jaijo, T.; Fuster-Garcia, C.; Rodríguez-Munoz, A.; Vallejo, E.; Tellería, J.J.; Vázquez, S.; Beltrán, S. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies

Journal of Molecular Diagnostics
2020 | Journal article
DOI: 10.1016/j.jmoldx.2020.01.003
EID:

2-s2.0-85083089322

Part of ISSN: 19437811 15251578
Contributors: Rodríguez-Muñoz, A.; Aller, E.; Jaijo, T.; González-García, E.; Cabrera-Peset, A.; Gallego-Pinazo, R.; Udaondo, P.; Salom, D.; García-García, G.; Millán, J.M.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Improving the management of patients with hearing loss by the implementation of an ngs panel in clinical practice

Genes
2020 | Journal article
DOI: 10.3390/genes11121467
EID:

2-s2.0-85097438311

Part of ISSN: 20734425
Contributors: García-García, G.; Berzal-Serrano, A.; García-Díaz, P.; Villanova-Aparisi, R.; Juárez-Rodríguez, S.; de Paula-Vernetta, C.; Cavallé-Garrido, L.; Jaijo, T.; Armengot-Carceller, M.; Millán, J.M. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Expanding the genetic landscape of usher-like phenotypes

Investigative Ophthalmology and Visual Science
2019 | Journal article
DOI: 10.1167/iovs.19-27470
EID:

2-s2.0-85074958769

Part of ISSN: 15525783 01460404
Contributors: Fuster-García, C.; García-García, G.; Jaijo, T.; Blanco-Kelly, F.; Tian, L.; Hakonarson, H.; Ayuso, C.; Aller, E.; Millán, J.M.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Genetic screening of the usher syndrome in Cuba

Frontiers in Genetics
2019 | Journal article
DOI: 10.3389/fgene.2019.00501
EID:

2-s2.0-85067875097

Part of ISSN: 16648021
Contributors: Santana, E.E.; Fuster-García, C.; Aller, E.; Jaijo, T.; García-Bohórquez, B.; García-García, G.; Millán, J.M.; Lantigua, A.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

Human Mutation
2019 | Journal article
DOI: 10.1002/humu.23891
EID:

2-s2.0-85073988902

Part of ISSN: 10981004 10597794
Contributors: Morgan, A.; Koboldt, D.C.; Barrie, E.S.; Crist, E.R.; García García, G.; Mezzavilla, M.; Faletra, F.; Mihalic Mosher, T.; Wilson, R.K.; Blanchet, C. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Human Mutation
2019 | Journal article
DOI: 10.1002/humu.23671
EID:

2-s2.0-85056184913

Part of ISSN: 10981004 10597794
Contributors: Vaché, C.; Torriano, S.; Faugère, V.; Erkilic, N.; Baux, D.; Garcia-Garcia, G.; Hamel, C.P.; Meunier, I.; Zanlonghi, X.; Koenig, M. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

Scientific Reports
2018 | Journal article
DOI: 10.1038/s41598-018-35085-0
EID:

2-s2.0-85056802140

Part of ISSN: 20452322
Contributors: Fuster-García, C.; García-García, G.; Jaijo, T.; Fornés, N.; Ayuso, C.; Fernández-Burriel, M.; Sánchez-De la Morena, A.; Aller, E.; Millán, J.M.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease

Clinical Chemistry and Laboratory Medicine
2018 | Journal article
DOI: 10.1515/cclm-2017-0226
EID:

2-s2.0-85037575378

Part of ISSN: 14374331 14346621
Contributors: Rodríguez-Muñoz, A.; García-García, G.; Menor, F.; Millán, J.M.; Tomás-Vila, M.; Jaijo, T.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

PLoS ONE
2018 | Journal article
DOI: 10.1371/journal.pone.0199048
EID:

2-s2.0-85048816710

Part of ISSN: 19326203
Contributors: Pérez-Carro, R.; Blanco-Kelly, F.; Galbis-Martínez, L.; García-García, G.; Aller, E.; García-Sandoval, B.; Mínguez, P.; Corton, M.; Mahíllo-Fernández, I.; Martín-Mérida, I. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

Scientific Reports
2017 | Journal article
DOI: 10.1038/s41598-017-16846-9
EID:

2-s2.0-85036648674

Part of ISSN: 20452322
Contributors: Baux, D.; Vaché, C.; Blanchet, C.; Willems, M.; Baudoin, C.; Moclyn, M.; Faugère, V.; Touraine, R.; Isidor, B.; Dupin-Deguine, D. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

USH2A Gene Editing Using the CRISPR System

Molecular Therapy - Nucleic Acids
2017 | Journal article
DOI: 10.1016/j.omtn.2017.08.003
EID:

2-s2.0-85029388137

Part of ISSN: 21622531
Contributors: Fuster-García, C.; García-García, G.; González-Romero, E.; Jaijo, T.; Sequedo, M.D.; Ayuso, C.; Vázquez-Manrique, R.P.; Millán, J.M.; Aller, E.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Molecular Therapy - Nucleic Acids
2016 | Journal article
DOI: 10.1038/mtna.2016.89
EID:

2-s2.0-85015192229

Part of ISSN: 21622531
Contributors: Slijkerman, R.W.; Vaché, C.; Dona, M.; García-García, G.; Claustres, M.; Hetterschijt, L.; Peters, T.A.; Hartel, B.P.; Pennings, R.J.; Millan, J.M. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Assessment of the latest NGS enrichment capture methods in clinical context

Scientific Reports
2016 | Journal article
DOI: 10.1038/srep20948
EID:

2-s2.0-84958582482

Part of ISSN: 20452322
Contributors: García-García, G.; Baux, D.; Faugère, V.; Moclyn, M.; Koenig, M.; Claustres, M.; Roux, A.-F.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Experience of targeted usher exome sequencing as a clinical test

Molecular Genetics and Genomic Medicine
2014 | Journal article
DOI: 10.1002/mgg3.25
EID:

2-s2.0-84908669596

Part of ISSN: 23249269
Contributors: Besnard, T.; García-García, G.; Baux, D.; Vaché, C.; Faugére, V.; Larrieu, L.; Léonard, S.; Millan, J.M.; Malcolm, S.; Claustres, M. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Novel deletions involving the USH2A gene in patients with usher syndrome and retinitis pigmentosa

Molecular Vision
2014 | Journal article
EID:

2-s2.0-84908700109

Part of ISSN: 10900535
Contributors: García-García, G.; Aller, E.; Jaijo, T.; Aparisi, M.J.; Larrieu, L.; Faugère, V.; Blanco-Kelly, F.; Ayuso, C.; Roux, A.-F.; Millán, J.M.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Targeted next generation sequencing for molecular diagnosis of usher syndrome

Orphanet Journal of Rare Diseases
2014 | Journal article
DOI: 10.1186/s13023-014-0168-7
EID:

2-s2.0-84962431703

Part of ISSN: 17501172
Contributors: Aparisi, M.J.; Aller, E.; Fuster-García, C.; García-García, G.; Rodrigo, R.; Vázquez-Manrique, R.P.; Blanco-Kelly, F.; Ayuso, C.; Roux, A.-F.; Jaijo, T. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)

PLoS ONE
2013 | Journal article
DOI: 10.1371/journal.pone.0074995
EID:

2-s2.0-84884523572

Part of ISSN: 19326203
Contributors: Aller, E.; Sánchez-Sánchez, A.V.; Chicote, J.U.; García-García, G.; Udaondo, P.; Cavallé, L.; Piquer-Gil, M.; García-España, A.; Díaz-Llopis, M.; Millán, J.M. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

PLoS ONE
2013 | Journal article
DOI: 10.1371/journal.pone.0057506
EID:

2-s2.0-84874386300

Part of ISSN: 19326203
Contributors: Aparisi, M.J.; García-García, G.; Aller, E.; Sequedo, M.D.; Martínez-Fernández de la Cámara, C.; Rodrigo, R.; Armengot, M.; Cortijo, J.; Milara, J.; Díaz-LLopis, M. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

Molecular Vision
2013 | Journal article
EID:

2-s2.0-84874344796

Part of ISSN: 10900535
Contributors: García-García, G.; Besnard, T.; Baux, D.; Vaché, C.; Aller, E.; Malcolm, S.; Claustres, M.; Millan, J.M.; Roux, A.-F.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

Molecular Vision
2012 | Journal article
EID:

2-s2.0-84872869657

Part of ISSN: 10900535
Contributors: García-García, G.; Aparisi, M.J.; Rodrigo, R.; Sequedo, M.D.; Espinós, C.; Rosell, J.; Olea, J.L.; Mendívil, M.P.; Ramos-Arroyo, M.A.; Ayuso, C. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Human Mutation
2012 | Journal article
DOI: 10.1002/humu.21634
EID:

2-s2.0-84857691632

Part of ISSN: 10981004 10597794
Contributors: Vaché, C.; Besnard, T.; le Berre, P.; García-García, G.; Baux, D.; Larrieu, L.; Abadie, C.; Blanchet, C.; Bolz, H.J.; Millan, J. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Functional analysis of splicing mutations in MYO7A and USH2A genes

Clinical Genetics
2011 | Journal article
DOI: 10.1111/j.1399-0004.2010.01454.x
EID:

2-s2.0-79551624295

Part of ISSN: 00099163 13990004
Contributors: Jaijo, T.; Aller, E.; Aparisi, M.J.; García-García, G.; Hernan, I.; Gamundi, M.J.; Nájera, C.; Carballo, M.; Millán, J.M.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

Orphanet Journal of Rare Diseases
2011 | Journal article
DOI: 10.1186/1750-1172-6-65
EID:

2-s2.0-80054064728

Part of ISSN: 17501172
Contributors: Garcia-Garcia, G.; Aparisi, M.J.; Jaijo, T.; Rodrigo, R.; Leon, A.M.; Avila-Fernandez, A.; Blanco-Kelly, F.; Bernal, S.; Navarro, R.; Diaz-Llopis, M. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: Large duplications are responsible for usher syndrome

Investigative Ophthalmology and Visual Science
2010 | Journal article
DOI: 10.1167/iovs.10-5359
EID:

2-s2.0-79551710998

Part of ISSN: 01460404 15525783
Contributors: Aller, E.; Jaijo, T.; García-García, G.; Aparisi, M.J.; Blesa, D.; Díaz-Llopis, M.; Ayuso, C.; Millán, J.M.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome

Investigative Ophthalmology and Visual Science
2010 | Journal article
DOI: 10.1167/iovs.09-4085
EID:

2-s2.0-77949883035

Part of ISSN: 15525783 01460404
Contributors: Jaijo, T.; Aller, E.; García-García, G.; Aparisi, M.J.; Berna, S.; Ávila-Fernández, A.; Barragán, I.; Baiget, M.; Ayuso, C.; Antiñolo, G. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Novel mutations in the USH1C gene in Usher syndrome patients

Molecular Vision
2010 | Journal article
EID:

2-s2.0-79551708550

Part of ISSN: 10900535
Contributors: Aparisi, M.J.; García-García, G.; Jaijo, T.; Rodrigo, R.; Graziano, C.; Seri, M.; Simsek, T.; Simsek, E.; Bernal, S.; Baiget, M. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Molecular Vision
2010 | Journal article
EID:

2-s2.0-77952299721

Part of ISSN: 10900535
Contributors: Aller, E.; Jaijo, T.; van Wijk, E.; Ebermann, I.; Kersten, F.; García-García, G.; Voesenek, K.; Aparisi, M.J.; Hoefsloot, L.; Cremers, C. et al.
Source: Self-asserted source
Gema García-García via Scopus - Elsevier
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