Research Output per year
Research Output 2003 2019
Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients
Calderon Ospina, C. A., Fonseca Mendoza, D. J., Gálvez, J. M., Restrepo Fernandez, C. M., Contreras Bravo, N. C., Alvarado, C., Peña, N., Duarte, D., Laissue Hormaza, P. & Cifuentes, R. A., Oct 15 2018, In : Pharmacogenomics and Personalized Medicine. 2018, 11, p. 169-178 10 p., 11.Research output: Contribution to journal › Article
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity
van Setten, J., Brody, J. A., Jamshidi, Y., Swenson, B. R., Butler, A. M., Campbell, H., Del Greco, F. M., Evans, D. S., Gibson, Q., Gudbjartsson, D. F., Kerr, K. F., Krijthe, B. P., Lyytikäinen, L-P., Müller, C., Müller-Nurasyid, M., Nolte, I. M., Padmanabhan, S., Ritchie, M. D., Robino, A., Smith, A. V. & 106 others, , Jul 25 2018, In : Nature Communications. 9, 1, p. 2904Research output: Contribution to journal › Article
Toxicidad neurológica asociada a la fenitoína en un paciente metabolizador intermedio para la enzima CYP2C19: Neurological toxicity associated with phenytoin in an intermediate metabolizer patient for CYP2C9 enzyme
Calderon Ospina, C. A., Dominguez Dominguez, C. A. & Aristizabal Gutierrez, F. A., 2018, In : Pharmaceutical Care Espana. 20, 3, p. 228 235 p., 3.Research output: Contribution to journal › Article
Transcriptomic analysis of FUCA1 knockdown in keratinocytes reveals new insights in the pathogenesis of fucosidosis skin lesions.
Payan Gomez, C. E., rubio, D. V., Jimenez, K., Fonseca, D. J. & Laissue Hormaza, P., Mar 8 2018, In : Experimental Dermatology. p. 1-6 6 p., 1.Research output: Contribution to journal › Article
A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency
Carlosama, C., El Zaiat, M., Patiño, L. C., Mateus, H. E., Veitia, R. A. & Laissue, P., Aug 15 2017, In : Human Molecular Genetics. 26, 16Research output: Contribution to journal › Article
Rare DNA variants in the brain-derived neurotrophic factor gene increase risk for attention-deficit hyperactivity disorder: A next-generation sequencing study
Hawi, Z., Cummins, T. D. R., Tong, J., Arcos-Burgos, M., Zhao, Q., Matthews, N., Newman, D. P., Johnson, B., Vance, A., Heussler, H. S., Levy, F., Easteal, S., Wray, N. R., Kenny, E., Morris, D., Kent, L., Gill, M. & Bellgrove, M. A., 2017, In : Molecular Psychiatry. 22, 4, p. 580-584 5 p.Research output: Contribution to journal › Article
The PHF21B gene is associated with major depression and modulates the stress response
Wong, M-L., Arcos-Burgos, M., Liu, S., Vélez, J. I., Yu, C., Baune, B. T., Jawahar, M. C., Arolt, V., Dannlowski, U., Chuah, A., Huttley, G. A., Fogarty, R., Lewis, M. D., Bornstein, S. R. & Licinio, J., 2017, In : Molecular Psychiatry. 22, 7, p. 1015-1025 11 p.Research output: Contribution to journal › Article
A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease
Velez, J. I., Rivera, D., Mastronardi, C. A., Patel, H. R., Tobon, C., Villegas, A., Cai, Y. P., Easteal, S., Lopera, F. & Arcos-Burgos, M., 2016, In : Neural Plasticity.Research output: Contribution to journal › Article
An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility
Martinez, A. F., Abe, Y., Hong, S., Molyneux, K., Yarnell, D., Löhr, H., Driever, W., Acosta, M. T., Arcos-Burgos, M. & Muenke, M., Dec 15 2016, In : Biological Psychiatry. 80, 12, p. 943-954 12 p.Research output: Contribution to journal › Article
Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans
Laissue Hormaza, P., Lakhal, B., Vatin, M., Batista, F., Burgio, G., Mercier, E., Dos Santos, E., Buffat, C., Sierra Diaz, D. C., Renault, G., Montagutelli, X., Salmon, J. E., Monget, P., Veitia, R. A., Méhats, C., Fellous, M., Gris, J. C. & Vaiman, D., Oct 19 2016, In : Open Biology. 6, 10, p. 1 - 13 13 p.Research output: Contribution to journal › Article
Distinctive adaptive response to repeated exposure to hydrogen peroxide associated with upregulation of DNA repair genes and cell cycle arrest
Santa-Gonzalez, G. A., Gomez-Molina, A., Arcos-Burgos, M., Meyer, J. N. & Camargo, M., 2016, In : Redox Biology. 9, p. 124-133 10 p.Research output: Contribution to journal › Article
Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia
Ducat, A., Doridot, L., Calicchio, R., Méhats, C., Vilotte, J. L., Castille, J., Barbaux, S., Couderc, B., Jacques, S., Letourneur, F., Buffat, C., Le Grand, F., Laissue, P., Miralles, F. & Vaiman, D., Jan 13 2016, In : Scientific Reports.Research output: Contribution to journal › Article
Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate
Mastronardi, C. A., Pillai, E., Pineda, D. A., Martinez, A. F., Lopera, F., Velez, J. I., Palacio, J. D., Patel, H., Easteal, S., Acosta, M. T., Castellanos, F. X., Muenke, M. & Arcos-Burgos, M., 2016, In : Molecular Psychiatry. 21, 10, p. 1434-1440 7 p.Research output: Contribution to journal › Article
Quantification of cell-free DNA for evaluating genotoxic damage from occupational exposure to car paints
Villalba-Campos, M., Ramírez-Clavijo, S. R., Sánchez-Corredor, M. C., Rondón-Lagos, M., Ibáñez-Pinilla, M., Palma, R. M., Varona-Uribe, M. E. & Chuaire-Noack, L., Jul 15 2016, In : Journal of Occupational Medicine and Toxicology. 11, 33Research output: Contribution to journal › Article
Retrospective assessment of childhood ADHD symptoms for diagnosis in adults: validity of a short 8-item version of the Wender-Utah Rating Scale
Das, D., Vélez, J. I., Acosta, M. T., Muenke, M., Arcos-Burgos, M. & Easteal, S., Dec 2016, In : ADHD Attention Deficit and Hyperactivity Disorders. 8, 4, p. 215-223 9 p.Research output: Contribution to journal › Article
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis
Ortega-Recalde, O., Moreno, M. B., Vergara, J. I., Fonseca, D. J., Rojas, R. F., Mosquera, H., Medina, C. L., Restrepo, C. M. & Laissue, P., Oct 1 2015, In : Clinical and Experimental Dermatology. p. 757-760 4 p.Research output: Contribution to journal › Article
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability
Ortega-Recalde, O., Beltrán, O. I., Gálvez, J. M., Palma-Montero, A., Restrepo, C. M., Mateus, H. E. & Laissue, P., Oct 1 2015, In : Clinical Genetics. p. e1-e3Research output: Contribution to journal › Article
Lack of association of polymorphisms in six candidate genes in colombian adhd patients
Talero Gutierrez, C., Fonseca Mendoza, D. J., Mateus, H. E., Gálvez, J. M., Forero, D. & Velez Van Meerbeke, A. F., Oct 16 2015, In : Annals of Neurosciences. 22, 4, p. 217-221 4 p.Research output: Contribution to journal › Article
Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations
Fonseca, D. J., Patiño, L. C., Suárez, Y. C., De Jesús Rodríguez, A., Mateus, H. E., Jiménez, K. M., Ortega-Recalde, O., Díaz-Yamal, I. & Laissue, P., Jul 1 2015, In : Fertility and Sterility. p. 154-162.e2 137 p.Research output: Contribution to journal › Article
A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics
Prada, C. F. & Laissue, P., Jan 1 2014, In : Mammalian Genome. p. 618-635 18 p.Research output: Contribution to journal › Article
BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure
Fonseca, D. J., Ortega-Recalde, O., Esteban-Perez, C., Moreno-Ortiz, H., Patiño, L. C., Bermúdez, O. M., Ortiz, A. M., Restrepo, C. M., Lucena, E. & Laissue, P., 2014, In : Reproductive BioMedicine Online. 29, 5, p. 627 - 633 6 p.Research output: Contribution to journal › Article
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
Patiño, L. C., Battu, R., Ortega-Recalde, O., Nallathambi, J., Anandula, V. R., Renukaradhya, U. & Laissue, P., Oct 15 2014, In : PLoS One.Research output: Contribution to journal › Article
Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss
Vatin, M., Bouvier, S., Bellazi, L., Montagutelli, X., Laissue, P., Ziyyat, A., Serres, C., De Mazancourt, P., Dieudonné, M. N., Mornet, E., Vaiman, D. & Gris, J. C., Feb 1 2014, In : American Journal of Pathology. p. 362-368 7 p.Research output: Contribution to journal › Article
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
Ortega-Recalde, O., Fonseca, D. J., Patiño, L. C., Atuesta, J. J., Rivera-Nieto, C., Restrepo, C. M., Mateus, H. E., van der Knaap, M. S. & Laissue, P., Nov 1 2013, In : Mitochondrion. p. 749-754 6 p.Research output: Contribution to journal › Article
Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder
Castro, T., Mateus, H. E., Fonseca, D. J., Forero, D., Restrepo, C. M., Talero, C., Vélez, A. & Laissue, P., Dec 1 2013, In : Neurological Sciences. p. 2219-2222 4 p.Research output: Contribution to journal › Article
Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology
Ortega-Recalde, O., Vergara, J. I., Fonseca, D. J., Ríos, X., Mosquera, H., Bermúdez, O. M., Medina, C. L., Vargas, C. I., Pallares, A. E., Restrepo, C. M. & Laissue, P., Jun 3 2013, In : PLoS One.Research output: Contribution to journal › Article
CITED2 mutations potentially cause idiopathic premature ovarian failure
Fonseca, D. J., Ojeda, D., Lakhal, B., Braham, R., Eggers, S., Turbitt, E., White, S., Grover, S., Warne, G., Zacharin, M., Nevin Lam, A., Landolsi, H., Elghezal, H., Saâd, A., Restrepo, C. M., Fellous, M., Sinclair, A., Koopman, P. & Laissue, P., Nov 1 2012, In : Translational Research. p. 384-388 5 p.Research output: Contribution to journal › Article
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure
Caburet, S., Zavadakova, P., Ben-Neriah, Z., Bouhali, K., Dipietromaria, A., Charon, C., Besse, C., Laissue, P., Chalifa-Caspi, V., Christin-Maitre, S., Vaiman, D., Levi, G., Veitia, R. A. & Fellous, M., Mar 13 2012, In : PLoS One.Research output: Contribution to journal › Article
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
Diggle, C. P., Parry, D. A., Logan, C. V., Laissue, P., Rivera, C., Restrepo, C. M., Fonseca, D. J., Morgan, J. E., Allanore, Y., Fontenay, M., Wipff, J., Varret, M., Gibault, L., Dalantaeva, N., Korbonits, M., Zhou, B., Yuan, G., Harifi, G., Cefle, K., Palanduz, S. & 14 others, , Aug 1 2012, In : Human Mutation. p. 1175-1181 7 p.Research output: Contribution to journal › Article
Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death
Vatin, M., Burgio, G., Renault, G., Laissue, P., Firlej, V., Mondon, F., Montagutelli, X., Vaiman, D., Serres, C. & Ziyyat, A., Aug 16 2012, In : PLoS One.Research output: Contribution to journal › Article
Screening for mutations of the FOXO4 gene in premature ovarian failure patients
Fonseca, D. J., Garzón, E., Lakhal, B., Braham, R., Ojeda, D., Elghezal, H., Saâd, A., Restrepo, C. M. & Laissue, P., Mar 1 2012, In : Reproductive BioMedicine Online. p. 339-341 3 p.Research output: Contribution to journal › Article
Análisis de microdeleciones en 22q11 en pacientes colombianos con cardiopatía congénita no sindrómica.
Villegas Galvez, V. E., Villalba, G., Mateus Arbelaez, H. E., Fonseca Mendoza, D. J., Núñez, F., Caicedo, V., Pachón, S. & Bernal, J. E., 2011, In : Investigacion Clinica. 52, 4, p. 334-343 9 p.Research output: Contribution to journal › Article
Colombian results of the interlaboratory Quality Control Exercise 2009-2010
Builes Gomez, J. J., Aguirre, D. P., Manrique Rincon, A. J., Puerto Parra, Y. D., Bravo Aguiar, M. L. J., Gaviria Gaviria, A., Gutierrez escobar, A. J., Muñoz, M., Fonseca Mendoza, D. J., Usaquen Fonseca, W., Castillo Pico, A., Pineda, C. R., Ugalde Noritz, N., Cicarelli, R. M. B., Ibarra Rodriguez, A. A., Trejos, D., Hudy Hamoui, L., Bermudez de Castro, M. H., Díaz Sarmiento, L. F., Quiceno Cerinza, D. & 13 others, , Dec 1 2011, In : Forensic Science International: Genetics Supplement Series. 3, 1, p. 57 58 p.Research output: Contribution to journal › Article
Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
Ojeda, D., Lakhal, B., Fonseca, D. J., Braham, R., Landolsi, H., Mateus, H. E., Restrepo, C. M., Elghezal, H., Saâd, A. & Laissue, P., Jun 30 2011, In : Fertility and Sterility.Research output: Contribution to journal › Article
Analisis Clinico y Molecular de una paciente con pentasomia del cromosoma X
Research output: Contribution to journal › Article
Analisis de marcadores STR sobre el cromosoma X en una poblacion de Bogota
Fonseca Mendoza, D. J., Fuentes, L. M., Sánchez, D. L., Gómez, Y. M., Restrepo, C. M. & Gutiérrez, A., 2010, In : Universitas Médica. 51, p. 284 - 289 5 p.Research output: Contribution to journal › Article
Beta-galactosidase activity as a marker of senescence in primary cultures of the ovarian surface epithelium | Actividad de la beta-galactosidasa como marcador de senescencia en cultivos primarios del epitelio superficial del ovario
Chuaire-Noack, L., Rondón-Lagos, S., Sánchez-Corredor, M., Ibáñez-Pinilla, M. & Ramírez-Clavijo, S., 2010, In : Investigacion Clinica. 51, 3, p. 351-367 17 p.Research output: Contribution to journal › Article
Identificación de deleciones en portadoras de distrofia muscular de Duchenne
Fonseca Mendoza, D. J., Silva Aldana, C. T., Mateus Arbelaez, H. E. & Restrepo Fernández, C. M., 2008, In : Acta Medica Colombiana. 33, 2, p. 63 - 67 4 p.Research output: Contribution to journal › Article
Utilidad de la Citogenética en la medicina actual: Visión histórica y aplicación
Silva, C. T., Contreras, N. C. & Fonseca Mendoza, D. J., Dec 31 2008, In : Acta Medica Colombiana. 33, 4, p. 309 - 316 7 p.Research output: Contribution to journal › Article
Distrofia Muscular de Duchenne y Becker: Una visión molecular
Silva Aldana, C. T., Fonseca Mendoza, D. J., Mateus Arbelaez, H. E., Contreras Bravo, N. C. & Restrepo Fernandez, C. M., Sep 5 2005, In : Acta Medica Colombiana. 30, 3, p. 112 - 11 6 4 p.Research output: Contribution to journal › Article
Identificación de portadoras de hemofilia A para asesoramiento genético mediante análisis en el ADN de polimorfismos intragénicos del gen del factor VIII de la coagulación
Fonseca Mendoza, D. J., Bermeo, S. M., Silva Aldana, C. T. & Restrepo Fernandez, C. M., 2003, In : Controversias En Gilecologia Y Obstetricia. 38, 3, p. 1105 - 1110 5 p.Research output: Contribution to journal › Article