Luis A Umana Franco

  • 39 Citations
  • 4 h-Index
20112017
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Fingerprint Dive into the research topics where Luis A Umana Franco is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Colombia Medicine & Life Sciences
Mucopolysaccharidosis III Medicine & Life Sciences
methionyl-tRNA formyltransferase Medicine & Life Sciences
Comparative Genomic Hybridization Medicine & Life Sciences
Fanconi Anemia Medicine & Life Sciences
Inborn Genetic Diseases Medicine & Life Sciences
Aortic Coarctation Medicine & Life Sciences
Gene Dosage Medicine & Life Sciences

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Research Output 2011 2017

  • 39 Citations
  • 4 h-Index
  • 5 Article
  • 1 Review article
5 Citations (Scopus)

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events

Hanchard, N. A., Umana, L. A., D'Alessandro, L., Azamian, M., Poopola, M., Morris, S. A., Fernbach, S., Lalani, S. R., Towbin, J. A., Zender, G. A., Fitzgerald-Butt, S., Garg, V., Bowman, J., Zapata, G., Hernandez, P., Arrington, C. B., Furthner, D., Prakash, S. K., Bowles, N. E., McBride, K. L. & 1 others, Belmont, J. W., Aug 1 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2176-2188 13 p.

Research output: Contribution to journalArticle

Heart Diseases
Genes
Uncertainty
Medical Records
Single Nucleotide Polymorphism
1 Citation (Scopus)

Genética clínica comunitaria: Exploración de patología genética en Boyacá, Colombia

Translated title of the contribution: Clinical community genetics: Exploring genetic disorders in Boyacá, ColombiaVelasco, H. M., Martin, Á. M., Galvis, J., Buelvas, L., Sánchez, Y., Umaña, L. A. & Acosta, J., Jan 1 2017, In : Revista de Salud Publica. 19, 1, p. 61-70 10 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Colombia
Ellis-Van Creveld Syndrome
Mucopolysaccharidosis III
Education
5 Citations (Scopus)

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia: A Neurogenetic Description

Velasco, H. M., Sanchez, Y., Martin, A. M. & Umaña, L. A., 2017, In : Journal of Child Neurology. 32, 2, p. 177-183 7 p.

Research output: Contribution to journalReview article

Mucopolysaccharidosis III
Colombia
Mutation
Heparitin Sulfate
Pedigree
3 Citations (Scopus)

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease

Pena, J. A., Lotze, T., Yang, Y., Umana, L. U. I. S., Walkiewicz, M., Hunter, J. V. & Scaglia, F., Feb 1 2016, In : Journal of Child Neurology. 31, 2, p. 215-219 5 p.

Research output: Contribution to journalArticle

methionyl-tRNA formyltransferase
Demyelinating Diseases
Mutation
Leigh Disease
Exome
17 Citations (Scopus)

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

Lalani, S. R., Ware, S. M., Wang, X., Zapata, G., Tian, Q., Franco, L. M., Jiang, Z., Bucasas, K., Scott, D. A., Campeau, P. M., Hanchard, N., Umaña, L., Cast, A., Patel, A., Cheung, S. W., McBride, K. L., Bray, M., Chinault, A. C., Boggs, B. A., Huang, M. & 7 others, Baker, M. R., Hamilton, S., Towbin, J., Jefferies, J. L., Fernbach, S. D., Potocki, L. & Belmont, J. W., Nov 2013, In : Human Molecular Genetics. 22, 21, p. 4339-4348 10 p., ddt283.

Research output: Contribution to journalArticle

Aortic Coarctation
Gene Dosage
Hypoplastic Left Heart Syndrome
Morpholinos
Comparative Genomic Hybridization