Concepción Hernández-Chico

1.9k total citations · 1 hit paper
19 papers, 1.1k citations indexed

About

Concepción Hernández-Chico is a scholar working on Molecular Biology, Genetics and Neurology. According to data from OpenAlex, Concepción Hernández-Chico has authored 19 papers receiving a total of 1.1k indexed citations (citations by other indexed papers that have themselves been cited), including 11 papers in Molecular Biology, 8 papers in Genetics and 7 papers in Neurology. Recurrent topics in Concepción Hernández-Chico's work include Neurogenetic and Muscular Disorders Research (8 papers), Neurofibromatosis and Schwannoma Cases (7 papers) and RNA modifications and cancer (6 papers). Concepción Hernández-Chico is often cited by papers focused on Neurogenetic and Muscular Disorders Research (8 papers), Neurofibromatosis and Schwannoma Cases (7 papers) and RNA modifications and cancer (6 papers). Concepción Hernández-Chico collaborates with scholars based in Spain, Italy and United States. Concepción Hernández-Chico's co-authors include Felipe Moreno, Francisco Javier Álvarez Rodríguez, Ana Valero, Eduardo F. Tizzano, Eladio A. Velasco, Laura Alías, Sara Bernal, José M. Millán, Carmen Valero and Yolanda Martín and has published in prestigious journals such as Proceedings of the National Academy of Sciences, PLoS ONE and Human Molecular Genetics.

In The Last Decade

Concepción Hernández-Chico

19 papers receiving 1.0k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

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

2018 298 citations Maite Calucho, Sara Bernal et al. Neuromuscular Disorders profile →

Peers

Countries citing papers authored by Concepción Hernández-Chico

Since Specialization

Citations

This map shows the geographic impact of Concepción Hernández-Chico's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Concepción Hernández-Chico with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Concepción Hernández-Chico more than expected).

Fields of papers citing papers by Concepción Hernández-Chico

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Concepción Hernández-Chico. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Concepción Hernández-Chico. The network helps show where Concepción Hernández-Chico may publish in the future.

Co-authorship network of co-authors of Concepción Hernández-Chico

This figure shows the co-authorship network connecting the top 25 collaborators of Concepción Hernández-Chico. A scholar is included among the top collaborators of Concepción Hernández-Chico based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Concepción Hernández-Chico. Concepción Hernández-Chico is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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19 of 19 papers shown

#	Work	Indexed citations
1	Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered? 2022 ·Journal of Medical Genetics ·(unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Anna Duat Rodríguez, Juan Luís Becerra, Sandra Bonache, Conxi Lázaro, C. Comas, Isabel Bielsa, Eduard Serra, Concepción Hernández-Chico, Yolanda Martín, Elisabeth Castellanos, Ignacio Blanco	7
2	Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases breakdown → 2018 ·Neuromuscular Disorders ·Maite Calucho, Sara Bernal, Laura Alías, Francesca March, Adoración Venceslá, Francisco Javier Álvarez Rodríguez, Elena Aller, Raquel M. Fernández, Salud Borrego, José M. Millán, Concepción Hernández-Chico, Ivon Cuscó, Pablo Fuentes‐Prior, Eduardo F. Tizzano	298
3	Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing 2015 ·PLoS ONE ·(unknown), Yolanda Martín, Laura De Conti, (unknown), Ana Valero, Marco Baralle, Concepción Hernández-Chico	9
4	Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain 2014 ·BioMed Research International ·María‐Isabel Tejada, G. Glóver, Francisco Martı́nez, Míriam Guitart, Yolanda de Diego‐Otero, Isabel Fernández-Carvajal, Feliciano J. Ramos, Concepción Hernández-Chico, Elı́zabeth Pintado, Jordi Rosell, (unknown), Carmen Ayuso, (unknown), (unknown), Montserrat Milà	11
5	RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas 2012 ·Neurogenetics ·(unknown), Ana Velasco, (unknown), Francisco Javier Álvarez Rodríguez, Yolanda Martín, (unknown), Concepción Hernández-Chico	13
6	Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1 2012 ·Clinical Genetics ·(unknown), Berta Campos, (unknown), (unknown), (unknown), (unknown), Yolanda Martín, Concepción Hernández-Chico	4
7	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 ·Genetic Testing and Molecular Biomarkers ·Laura Alías, Sara Bernal, M. J. Barceló, Eva Also‐Rallo, Rebeca Martínez‐Hernández, Francisco Javier Álvarez Rodríguez, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F. Tizzano	27
8	A Highly Sensitive Genetic Protocol to Detect NF1 Mutations 2011 ·Journal of Molecular Diagnostics ·M. Carmen Valero, Yolanda Martín, (unknown), Alba Hernández, (unknown), (unknown), Francisco Javier Álvarez Rodríguez, Dolores Tellerı́a, Concepción Hernández-Chico	82
9	Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings 2011 ·Neuromuscular Disorders ·Sara Bernal, Eva Also‐Rallo, Rebeca Martínez‐Hernández, Laura Alías, Francisco Javier Álvarez Rodríguez, José M. Millán, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F. Tizzano	46
10	Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis 2010 ·BMC Cancer ·(unknown), Alba Hernández, M. Carmen Valero, (unknown), Yolanda Martín, Concepción Hernández-Chico	6
11	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 ·Human Genetics ·Laura Alías, Sara Bernal, Pablo Fuentes‐Prior, M. J. Barceló, (unknown), Rebeca Martínez‐Hernández, Francisco Javier Álvarez Rodríguez, Yolanda Martín, Elena Aller, Elena Grau, Ana Peciña, Guillermo Antiñolo, Enrique Galán, Alberto L. Rosa, Miguel Fernández‐Burriel, Salud Borrego, José M. Millán, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F. Tizzano	131
12	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 ·European Journal of Human Genetics ·Alejandra Pera, Manuela Villamar, Antonio Viñuela, Marta Gandía, (unknown), Felipe Moreno, Concepción Hernández-Chico	49
13	Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA 2008 ·Proceedings of the National Academy of Sciences ·Alejandra Pera, Silvia Dossena, Simona Rodighiero, Marta Gandía, Guido Fernando Botta, G. Meyer, Felipe Moreno, Charity Nofziger, Concepción Hernández-Chico, Markus Paulmichl	83
14	Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations 2002 ·Human Genetics ·Yolanda Martín, Ana Valero, (unknown), Samuel Ignacio Pascual Pascual, Concepción Hernández-Chico	34
15	Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases 2001 ·Human Genetics ·Ivon Cuscó, M. J. Barceló, Elisabeth del Río, Yolanda Martín, Concepción Hernández-Chico, Elena Bussaglia, Montserrat Baiget, Eduardo F. Tizzano	36
16	Atrofia muscular espinal infantil: Introducción del diagnóstico molecular en Cuba 1999 ·Revista Cubana de Obstetricia y Ginecología ·(unknown), (unknown), Felipe Moreno, Concepción Hernández-Chico	1
17	Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients 1997 ·Human Genetics ·M. Carmen Valero, I Pascual-Castroviejo, Eladio A. Velasco, Felipe Moreno, Concepción Hernández-Chico	34
18	Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of^cBCD541 and SMA Phenotype 1996 ·Human Molecular Genetics ·Eladio A. Velasco, Carmen Valero, Ana Valero, Felipe Moreno, Concepción Hernández-Chico	167
19	Molecular characterization of pmbA, an Escherichia coli chromosomal gene required for the production of the antibiotic peptide MccB17 1990 ·Molecular Microbiology ·(unknown), Concepción Hernández-Chico, Felipe Moreno	24

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