Research Output

2019

B Vitamins in the nervous system: Current knowledge of the biochemical modes of action and synergies of thiamine, pyridoxine, and cobalamin

Translated title of the contribution: Vitaminas B en el sistema nervioso: conocimiento actual de los mecanismos de acción bioquimicos y sinergias de la tiamina, piridoxina y cobalamina. Calderon Ospina, C. A. & Nava Mesa, M. O., Sep 6 2019, In : CNS Neuroscience and Therapeutics. p. 1-9 9 p.

Research output: Contribution to journalReview article

Open Access
1 Scopus citations

Congenital leptin deficiency and leptin gene missense mutation found in two colombian sisters with severe obesity

Yupanqui-Lozno, H., Bastarrachea, R. A., Yupanqui-Velazco, M. E., Alvarez-Jaramillo, M., Medina-Méndez, E., Giraldo-Peña, A. P., Arias-Serrano, A., Torres-Forero, C., Garcia-Ordoñez, A. M., Mastronardi, C. A., Restrepo, C. M., Rodriguez-Ayala, E., Nava-Gonzalez, E. J., Arcos-Burgos, M., Kent, J. W., Cole, S. A., Licinio, J. & Celis-Regalado, L. G., May 2019, In : Genes. 10, 5, 342.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Consideraciones acerca del reporte y la evaluación del fallo terapéutico en farmacovigilancia

Translated title of the contribution: Considerations regarding the reporting and evaluation of therapeutic failure in pharmacovigilanceRuíz-Garzón, J. A. & Calderón-Ospina, C. A., Jul 1 2019, In : Revista Facultad de Medicina. 67, 3, p. 287-292 6 p., 3.

Research output: Contribution to journalArticle

Open Access

Drug Therapeutic Failures as a Cause of Admission to an Intensive Care Unit at a University Hospital

Calderon Ospina, C. A. & Ruiz-Garzón, J., Oct 16 2019, In : Journal of Research in Pharmacy Practice. 8, 3, p. 168-173 6 p., 3.

Research output: Contribution to journalArticle

Open Access

Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis

Fonseca Mendoza, D. J., Caro, L. A., Sierra Diaz, D. C., Serrano Reyes, C., Suárez, Y. C., Mateus Arbelaez, H. E., Bolívar Salazar, D., De la Torre Cifuentes, L. A. & Laissue Hormaza, P., Oct 14 2019, In : Human Genetics.

Research output: Contribution to journalArticle

Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer’s Disease

Vélez, J. I., Lopera, F., Creagh, P. K., Piñeros, L. B., Das, D., Cervantes-Henríquez, M. L., Acosta-López, J. E., Isaza-Ruget, M. A., Espinosa, L. G., Easteal, S., Quintero, G. A., Silva, C. T., Mastronardi, C. A. & Arcos-Burgos, M., May 1 2019, In : Molecular Neurobiology.

Research output: Contribution to journalArticle

1 Scopus citations
2018

A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy

Silva, C. T., Zorkoltseva, I. V., Niemeijer, M. N., Van Den Berg, M. E., Amin, N., Demirkan, A., Van Leeuwen, E., Iglesias, A. I., Piñeros-Hernández, L. B., Restrepo, C. M., Kors, J. A., Kirichenko, A. V., Willemsen, R., Oostra, B. A., Stricker, B. H., Uitterlinden, A. G., Axenovich, T. I., Van Duijn, C. M. & Isaacs, A., Mar 5 2018, In : BMC Medical Genomics. 11, 1, 22.

Research output: Contribution to journalArticle

1 Scopus citations

A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency

Carlosama, C., Patiño, L. C., Beau, I., Morel, A., Delemer, B., Young, J., Binart, N. & Laissue, P., May 28 2018, In : Clinical Endocrinology. 4, 6, p. 245-246 2 p., 3.

Research output: Contribution to journalArticle

3 Scopus citations

Cost-Effectiveness Analysis of Diagnosis of Duchenne/Becker Muscular Dystrophy in Colombia

Atehortúa, S. C., Lugo, L. H., Ceballos, M., Orozco, E., Castro, P. A., Arango, J. C. & Mateus, H. E., Dec 2018, In : Value in Health Regional Issues. 17, p. 1-6 6 p.

Research output: Contribution to journalArticle

Open Access

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. 11, 11, p. 169-178 10 p., 11.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency aetiology

Patiño, L. C., Beau, I., Morel, A., Delemer, B., Young, J., Binart, N. & Laissue, P., Oct 10 2018, In : Human Mutation. 10, 10, p. 1 10 p., 3.

Research output: Contribution to journalArticle

3 Scopus citations

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

Miranda-Fernández, M-C., Ramírez-Oyaga, S., Restrepo, C. M., Huertas-Quiñones, V-M., Barrera-Castañeda, M., Quero, R., Hernández-Toro, C-J., Tamar Silva, C., Laissue, P. & Cabrera, R., May 2018, In : Molecular Syndromology. 9, 3, p. 164-169 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Identification of clinically relevant phenotypes in patients with Ebstein anomaly

Cabrera, R., Miranda-Fernández, M. C., Huertas-Quiñones, V. M., Carreño, M., Pineda, I., Restrepo, C. M., Silva, C. T., Quero, R., Cano, J. D., Manrique, D. C., Camacho, C., Tabares, S., García, A., Sandoval, N., Moreno Medina, K. J. & Dennis Verano, R. J., Mar 1 2018, In : Clinical Cardiology. 41, 3, p. 343-348 6 p.

Research output: Contribution to journalArticle

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, Steri, M., Tanaka, T., Teumer, A., Trompet, S., Ulivi, S., Verweij, N., Yin, X., Arnar, D. O., Asselbergs, F. W., Bader, J. S., Barnard, J., Bis, J., Blankenberg, S., Boerwinkle, E., Bradford, Y., Buckley, B. M., Chung, M. K., Crawford, D., den Hoed, M., Denny, J. C., Dominiczak, A. F., Ehret, G. B., Eijgelsheim, M., Ellinor, P. T., Felix, S. B., Franco, O. H., Franke, L., Harris, T. B., Holm, H., Ilaria, G., Iorio, A., Kähönen, M., Kolcic, I., Kors, J. A., Lakatta, E. G., Launer, L. J., Lin, H., Lin, H. J., Loos, R. J. F., Lubitz, S. A., Macfarlane, P. W., Magnani, J. W., Leach, I. M., Meitinger, T., Mitchell, B. D., Munzel, T., Papanicolaou, G. J., Peters, A., Pfeufer, A., Pramstaller, P. P., Raitakari, O. T., Rotter, J. I., Rudan, I., Samani, N. J., Schlessinger, D., Silva Aldana, C. T., Sinner, M. F., Smith, J. D., Snieder, H., Soliman, E. Z., Spector, T. D., Stott, D. J., Strauch, K., Tarasov, K. V., Thorsteinsdottir, U., Uitterlinden, A. G., Van Wagoner, D. R., Völker, U., Völzke, H., Waldenberger, M., Jan Westra, H., Wild, P. S., Zeller, T., Alonso, A., Avery, C. L., Bandinelli, S., Benjamin, E. J., Cucca, F., Dörr, M., Ferrucci, L., Gasparini, P., Gudnason, V., Hayward, C., Heckbert, S. R., Hicks, A. A., Jukema, J. W., Kääb, S., Lehtimäki, T., Liu, Y., Munroe, P. B., Parsa, A., Polasek, O., Psaty, B. M., Roden, D. M., Schnabel, R. B., Sinagra, G., Stefansson, K., Stricker, B. H., van der Harst, P., van Duijn, C. M., Wilson, J. F., Gharib, S. A., de Bakker, P. I. W., Isaacs, A., Arking, D. E. & Sotoodehnia, N., Jul 25 2018, In : Nature Communications. 9, 1, p. 2904

Research output: Contribution to journalArticle

10 Scopus citations

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 Mendoza, D. J. & Laissue Hormaza, P., Mar 8 2018, In : Experimental Dermatology. p. 1-6 6 p., 1.

Research output: Contribution to journalArticle

2 Scopus citations
2017

A first description of the Colombian national registry for rare diseases

Mateus, H. E., Pérez, A. M., Mesa, M. L., Escobar, G., Gálvez, J. M., Montaño, J. I., Ospina, M. L. & Laissue, P., Oct 26 2017, In : BMC Research Notes. 10, 1, p. 514

Research output: Contribution to journalArticle

3 Scopus citations

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, 16

Research output: Contribution to journalArticle

Open Access
15 Scopus citations

Genomic Medicine in Developing Countries and Resource-Limited Environments

Laissue Hormaza, P., Katsila, T., Mitropoulos, K., Mohamed, Z., Forero, D. A., Wonkam, A., López-Correa, C., Chantratita, W., Llerena, A., Alí, B. R. & Patrinos, G. P., 2017, Genomic Medicine in Developing Countries and Resource-Limited Environments. p. 459 - 467 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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 journalArticle

10 Scopus citations

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 journalArticle

32 Scopus citations
2016

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 journalArticle

11 Scopus citations

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 journalArticle

22 Scopus citations

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 journalArticle

Open Access
8 Scopus citations

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 journalArticle

21 Scopus citations

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 journalArticle

21 Scopus citations

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 journalArticle

5 Scopus citations

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, 33

Research output: Contribution to journalArticle

3 Scopus citations

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 journalArticle

1 Scopus citations

Transcriptomic analysis of skin in a case of ichthyosis Curth–Macklin caused by a KRT1 mutation

Ortega-Recalde, O., Silgado, D., Fetiva, C., Fonseca, D. J. & Laissue, P., Dec 1 2016, In : British Journal of Dermatology. p. 1372-1375 4 p.

Research output: Contribution to journalLetter

1 Scopus citations
2015
22 Scopus citations

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-e3

Research output: Contribution to journalArticle

13 Scopus citations

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 journalArticle

12 Scopus citations

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 journalArticle

30 Scopus citations
2014

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 journalArticle

4 Scopus citations

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 journalArticle

Open Access
12 Scopus citations
20 Scopus citations

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 journalArticle

17 Scopus citations

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 journalArticle

13 Scopus citations
2013

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 journalArticle

9 Scopus citations

Caracterización molecular en niños con trastorno por déficit de atención e hiperactividad

Translated title of the contribution: Molecular profiling in children with attention deficit and hyperactivity disorderTalero Gutierrez, C., Velez Van Meerbeke, A. F., Fonseca Mendoza, D. J., Gálvez, J. M., Mateus Arbelaez, H. E., Agudelo, J. & Forero, D., Dec 4 2013, In : Acta Neurológica Colombiana. 29, 4, p. s9-s10 1 p.

Research output: Contribution to journalArticle

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 journalArticle

5 Scopus citations

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 journalArticle

19 Scopus citations
2012

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

Fonseca Mendoza, D. J., Prada, C. F., Siza, L. M., Angel, D., Gomez, Y. M., Restrepo Fernandez, C. M., Douben, H., Rivadeneira, F., de Klein, A. & Laissue Hormaza, P., Mar 1 2012, In : American Journal of Medical Genetics, Part A. p. 689-693- 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

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 journalArticle

9 Scopus citations

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 journalArticle

22 Scopus citations

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

Fonseca Mendoza, D. J., Laissue Hormaza, P., Niño, M. Y., Mateus Arbelaez, H. E., Kroos, M. A., Ospina, S. Y., Mejía, J. F., Uribe, J. A. & Reuser, A. J. J., Apr 19 2012, In : Journal of Inherited Metabolic Disease. 7, p. 39 - 48 10 p.

Research output: Contribution to journalArticle