Marta Lucía Tamayo - Concepedia

Author

Marta Lucía Tamayo

Also Known As

M L Tamayo, M. Tamayo, M.L. Tamayo, MARTHA L. TAMAYO, Marta L. Tamayo, Marta Lucía Tamayo, Marta Tamayo, Martalucía Tamayo, Marta L. Tamayo, Martha L. Tamayo

Publications

1.5K

Citations

H-Index

Concepts

All Affiliations

Pontificia Universidad Javeriana Fundación Neumológica Colombiana University of Nebraska Medical Center University of South Florida Hospital Universitario San Ignacio

About

Marta Lucía Tamayo is an author at Pontificia Universidad Javeriana specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	582
2	Arts	1	1	151
3	Natural Sciences	1	1	29
4	Public Health	1	1	151
5	Biostatistics	1	1	151

Marta Lucía Tamayo

Publications

1.1K

Citations

H-Index

Page 1

	Year	Citations
Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa James D. Eudy, Michael D. Weston, Su-Fang Yao, Science Molecular PhysiologyDevelopmental BiologyMarkers Afm268zd1Genetic DisorderExtracellular Matrix Motifs	1998	391
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy Montserrat Rodríguez-Ballesteros, Raúl Reynoso, M. A. Gil Olarte, Human Mutation	2008	178
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants A. Eliot Shearer, Robert W. Eppsteiner, Kevin T. Booth, The American Journal of Human Genetics Allelic VariantVariant InterpretationEthnic-specific DifferencesGenetic EpidemiologyAudiology	2014	151
Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I Lisa M. Astuto, Michael D. Weston, Carol A. Carney, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyGenetic Heterogeneity	2000	71
Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854) Juan Rodriguez‐Paris, Marta Lucía Tamayo, Nancy Gélvez, PLoS ONE Allelic VariantDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2011	52
Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability Marta Lucía Tamayo, Nancy Gélvez, Marcela Rodríguez, American Journal of Medical Genetics Part A	2008	51
Usher syndrome: results of a screening program in Colombia Marta Lucía Tamayo, Jaime E. Bernal, Gustavo E. Tamayo, Clinical Genetics	1991	44
X-LINKED RETINOSCHISIS IN THREE FEMALES FROM THE SAME FAMILY: A PHENOTYPE–GENOTYPE CORRELATION Francisco Jiménez Rodríguez, Álvaro Rodríguez, Roberto Mendoza‐Londono, Retina	2005	43
A Colombian family with X-linked juvenile retinoschisis with three affected females: Finding of a frameshift mutation Roberto Mendoza‐Londono, Kelaginamane Hiriyanna, Eve L. Bingham, Ophthalmic Genetics Mendelian DisorderGenetic DisorderGeneticsEvolutionary BiologyX-linked Juvenile Retinoschisis	1999	39
Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies Madeleine R. MacDonald, G. Bradley Schaefer, Ann Haskins Olney, American Journal of Medical Genetics	1993	31

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