Francisco Martı́nez

Author

Francisco Martı́nez

Hospital Universitari i Politècnic La Fe ORCID

Also Known As

Emilio Orts, F Castellano, F Martinez, F Martínez, F Martínez-Castellano, F. Castellano, F. MARTÍNEZ, F. Martinez, F. Martínez, F. Martínez Castellano

378

Publications

Citations

H-Index

Concepts

All Affiliations

Hospital Universitari i Politècnic La Fe Centre for Biomedical Network Research on Rare Diseases Hospital de Cruces Instituto de Investigación de Enfermedades Raras Baylor College of Medicine

About

Francisco Martı́nez is an author at Hospital Universitari i Politècnic La Fe specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	32	2.1K
2	Public Health	4	4	214
3	Social Sciences	3	3	107
4	Health Sciences	2	2	50
5	Natural Sciences	2	2	128

Francisco Martı́nez

Publications

3.3K

Citations

H-Index

Page 1

	Year	Citations
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Patrick Tarpey, Raffaella Smith, Erin Pleasance, Nature Genetics ChromatinPsychiatryGenetic DisorderGeneticsPsychiatric Genetics	2009	613
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome A Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, European Journal of Human Genetics SpermatogenesisInfertilityDevelopmental BiologyMendelian DisorderGenetic Disorder	2003	173
Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat Eugènia Monrós, María Dolores Moltó, Francisco Martı́nez, The American Journal of Human Genetics Genetic AnalysisGenetic DisorderGeneticsGenetic EpidemiologyMolecular Biology	1997	173
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies S Bort, Eva Nelis, Vincent Timmerman, Human Genetics Mutational AnalysisMendelian DisorderGenetic DisorderGeneticsCx32 Genes	1997	137
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing Francisco Martı́nez, Alfonso Caro‐Llopis, Mónica Rosello, Journal of Medical Genetics	2016	128
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
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations Jason O'Rawe, Yiyang Wu, Max J. Dörfel, The American Journal of Human Genetics	2015	125
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, Human Mutation X-inactivation PatternsGeneticsGenetic EpidemiologyDisease Gene IdentificationEpigenetics	2016	125
Molecular Analysis of 250 Patients with Autosomal Recessive Congenital Ichthyosis: Evidence for Mutation Hotspots in ALOXE3 and Allelic Heterogeneity in ALOX12B Katja‐Martina Eckl, Silvia de Juanes, Janine Kurtenbach, Journal of Investigative Dermatology Mutation HotspotsMendelian DisorderGenetic DisorderMedicineGenetics	2009	113
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, European Journal of Human Genetics	2017	98

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