Author

Concepción Hernández-Chico

Observed names: C Hernández-Chico, C Hernández‐Chico, C. Hernández‐Chico, C. Hern�ndez-Chico, Concepcion Hernández-Chico, Concepcion Hernández‐Chico, Concepción Hernandez-Chico, Concepción Hernández Chico, Concepción Hernández-chico, Concepción Hernández‐Chico, Hernández Chico, Concepción, Hernández-Chico, Concepción

Observed institutions: Instituto Cajal, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal

OpenAlex ID: A5086893803

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

2018 · Maite Calucho, Sara Bernal, et al. · Neuromuscular Disorders · 498

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

2017 · Magdalena Koczkowska, Yunjia Chen, et al. · The American Journal of Human Genetics · 216

Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies ofcBCD541 and SMA Phenotype

1996 · Eladio Velasco, Carmen Valero, et al. · Human Molecular Genetics · 196

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

2015 · Kitiwan Rojnueangnit, Jing Xie, et al. · Human Mutation · 188

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

2008 · Laura Alías, Sara Bernal, et al. · Human Genetics · 173

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

2019 · Magdalena Koczkowska, Tom Callens, et al. · Human Mutation · 134

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

2011 · María Carmen Valero, Yolanda Martín, et al. · Journal of Molecular Diagnostics · 119

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

2008 · Alejandra Pera, Silvia Dossena, et al. · Proceedings of the National Academy of Sciences · 108

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

2018 · Magdalena Koczkowska, Tom Callens, et al. · Genetics in Medicine · 93

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

2010 · S Bernal, L Alías, et al. · Journal of Medical Genetics · 90

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

2008 · Alejandra Pera, Manuela Villamar, et al. · European Journal of Human Genetics · 74

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

2011 · Sara Bernal, Eva Also-Rallo, et al. · Neuromuscular Disorders · 65

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients

1997 · M. Carmen Valero, Ignacio Pascual-Castroviejo, et al. · Human Genetics · 51

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases

2001 · Ivon Cuscó, María Barceló, et al. · Human Genetics · 43

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

2019 · María Cristina Estañ, Elisa Fernández-Núñez, et al. · Nature Communications · 40

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

2002 · Yolanda Martín, Ana Valero, et al. · Human Genetics · 39

Molecular characterization of pmbA, an Escherichia coli chromosomal gene required for the production of the antibiotic peptide MccB17

1990 · M. C. Rodríguez‐Sáinz, C. Hernández‐Chico, et al. · Molecular Microbiology · 36

Accuracy of Marker Analysis, Quantitative Real-Time Polymerase Chain Reaction, and Multiple Ligation-Dependent Probe Amplification to Determine SMN2 Copy Number in Patients with Spinal Muscular Atrophy

2011 · Laura Alías, Sara Bernal, et al. · Genetic Testing and Molecular Biomarkers · 34

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

2022 · Belen Garcia, Nuria Catasus, et al. · Journal of Medical Genetics · 21

RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas

2012 · German Melean, Ana Velasco, et al. · Neurogenetics · 16

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

2014 · María-Isabel Tejada, Guillermo Glover, et al. · BioMed Research International · 13

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

2015 · Elisabete Hernández-Imaz, Yolanda Martín, et al. · PLoS ONE · 12

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis

2010 · German Melean, Alba Marina Hernández, et al. · BMC Cancer · 11

Pendred's syndrome and non‐syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings

2005 · B Arellano, A Pera, et al. · Clinical Genetics · 9

Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1

2012 · E Hernández‐Imaz, B Campos, et al. · Clinical Genetics · 6

Works count: 38

Citation count: 2,296

H-index: 19

I10-index: 23