Vanesa López‐González

Author

Hospital Universitario Virgen de la Arrixaca ORCID

Also Known As

Encarna Guillén‐Navarro, Isabel Llano-Rivas, López-González, Vanesa, V. López-González, Vanesa Lopez-Gonzalez, Vanesa Lpez-Gonzlez, Vanesa López-González, Vanesa López‐González

Publications

1.8K

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario Virgen de la Arrixaca Centre for Biomedical Network Research on Rare Diseases Instituto de Salud Carlos III Hospital Universitario La Paz Universidad Católica de Murcia

About

Vanesa López‐González is an author at Hospital Universitario Virgen de la Arrixaca specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	464
2	Natural Sciences	1	1	55
3	Social Sciences	1	1	18
4	Biology	1	1	55
5	Cell Biology	1	1	39

Vanesa López‐González

Publications

1.5K

Citations

H-Index

Page 1

	Year	Citations
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Human Molecular Genetics	2013	227
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Genetics in Medicine	2018	127
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation Karim Kouz, Stephanie Spranger, Diana Mitter, Genetics in Medicine Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsGenetic Epidemiology	2016	104
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan, Human Mutation	2012	95
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Orphanet Journal of Rare Diseases	2013	94
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome Johanna Christina Czeschik, Claudia Voigt, Yasemin Alanay, Human Genetics Molecular Diagnostic TechniquesMendelian DisorderGenetic DisorderDiagnosisPathology	2013	81
A new seipin-associated neurodegenerative syndrome Encarna Guillén‐Navarro, Sofía Sánchez‐Iglesias, Rosario Domingo‐Jiménez, Journal of Medical Genetics	2013	76
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso, European Journal of Human Genetics Developmental AnomalyGenetic DisorderGeneticsPathologyCraniofacial Anomalies	2014	64
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes Nuria C. Bramswig, Hermann‐Josef Lüdecke, Yasemin Alanay, Human Genetics UrologyMendelian DisorderGenetic DisorderMedicineDiagnosis	2015	63
Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies Ascensión Vera‐Carbonell, Vanesa López‐González, Juan Antonio Bafallíu, American Journal of Medical Genetics Part A	2015	57

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