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Author

Imma Hernán

Observed names: I Hernan, I. Hernan, Imma Hernan, Immaculada Hernan, Inma Hernan
ORCID: 0000-0002-7729-0961
Observed ORCID: 0000-0002-7729-0961
OpenAlex ID: A5083220703
Dopamine Genes (DRD2/ANKK1-TaqA1 and DRD4-7R) and Executive Function: Their Interaction with Obesity
2012 · Mar Ariza, Maite Garolera, et al. · PLoS ONE · 105
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Mutations in the Pre-mRNA Splicing-Factor Genes PRPF3 , PRPF8 , and PRPF31 in Spanish Families with Autosomal Dominant Retinitis Pigmentosa
2003 · Mari´a Marti´nez-Gimeno, Mari´a Jose´ Gamundi, et al. · Investigative Ophthalmology & Visual Science · 103
Clinical pharmacogenomic testing of KRAS, BRAF and EGFRmutations by high resolution melting analysis and ultra-deep pyrosequencing
2011 · Emma Borràs, Ismael Jurado, et al. · BMC Cancer · 90
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Novelc-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation
2005 · Miguel Carballo, Ignasi Roig, et al. · American Journal of Medical Genetics Part A · 73
Differential cytokine and transcription factor expression in patients with allergic reactions to drugs
2007 · J. A. Cornejo‐Garcia, T. D. Fernandez, et al. · Allergy · 52
Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing
2012 · Imma Hernan, Emma Borràs, et al. · Journal of Molecular Diagnostics · 51
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Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies
2008 · S Bernal, T Solans, et al. · Clinical Genetics · 44
De novo germline mutation in the serine–threonine kinase STK11/LKB1 gene associated with Peutz–Jeghers syndrome
2004 · I Hernan, I Roig, et al. · Clinical Genetics · 43
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families
2014 · Patricia Fernandez‐San Jose, Fiona Blanco‐Kelly, et al. · Acta Ophthalmologica · 42
The interaction effect between BDNF val66met polymorphism and obesity on executive functions and frontal structure
2014 · Idoia Marqués‐Iturria, Maite Garolera, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 41
Transcriptional expression ofcis-acting andtrans-acting splicing mutations cause autosomal dominant retinitis pigmentosa
2008 · María José Gamundi, Imma Hernan, et al. · Human Mutation · 41
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
2007 · María José Gamundi, Imma Hernan, et al. · PubMed Central · 37
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
2013 · Elena Millá, Begoña Mañé, et al. · Europe PMC (PubMed Central) · 32
Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells
2021 · Ángeles Arzalluz-Luque, Jose Luis Cabrera, et al. · Frontiers in Neuroscience · 26
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Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
2013 · Miguel de Sousa Dias, Imma Hernan, et al. · Europe PMC (PubMed Central) · 24
Differential expression of genes encoding protein kinase CK2 subunits in the plant cell cycle
2005 · M. Carme Espunya, Trinitat López-Giráldez, et al. · Journal of Experimental Botany · 23
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Cellular Expression and siRNA-Mediated Interference of Rhodopsin cis -Acting Splicing Mutants Associated with Autosomal Dominant Retinitis Pigmentosa
2011 · Imma Hernan, María José Gamundi, et al. · Investigative Ophthalmology & Visual Science · 22
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
2006 · María José Gamundi, Imma Hernan, et al. · BMC Medical Genetics · 21
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Novel p.M96T variant of NRL and shRNA‐based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa
2011 · I Hernan, MJ Gamundi, et al. · Clinical Genetics · 17
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity
2013 · Emma Borràs, Emma Dotor, et al. · Frontiers in Genetics · 15
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Functional analysis of splicing mutations in MYO7A and USH2A genes
2010 · T Jaijo, E Aller, et al. · Clinical Genetics · 14
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.
2007 · Elena Millá, Imma Hernan, et al. · PubMed Central · 13
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
2005 · María José Gamundi, Imma Hernan, et al. · PubMed · 13
Detection of novel genetic variation in autosomal dominant retinitis pigmentosa
2013 · E Borràs, M de Sousa Dias, et al. · Clinical Genetics · 11
Effect of the catechol‐O‐methyltransferase Val 158Met polymorphism on theory of mind in obesity
2019 · Xavier Caldú, Jonatan Ottino‐González, et al. · European Eating Disorders Review · 10
Works count: 37
Citation count: 1,000
H-index: 18
I10-index: 25
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