Ignacio Zarante

@javeriana.edu.co

Instituto de Genetica Humana / Facultad de Medicina
Pontificia Universidad Javeriana

Ignacio Zarante
I am a Full Professor of Basic Genetics and Medical Genetics at the Institute of Human Genetics, Pontificia Universidad Javeriana. Additionally, I serve as the Coordinator of the Surveillance and Follow-up Program for Children with Birth Defects in Bogotá, Colombia, and as the Coordinator of the Center for Rare Diseases at the Hospital Universitario San Ignacio. I also hold the position of President of the Colombian Association of Medical Genetics and Genomic Medicine (ACMGEN). My research focuses on the prevalence and risk factors associated with birth defects. Along with my team, I am a member of the International Clearinghouse of Birth Defects (ICBDSR) and the Latin American Collaborative Study of Congenital Malformations (ECLAMC). My past roles include Director of the Department of Physiological Sciences for six years, Medical Genetic Residency Coordinator for twelve years, Director of the Human Genetics Institute at the Pontificia Universidad Javeriana for three years, Director of

EDUCATION

MD, MSc, PhD

RESEARCH, TEACHING, or OTHER INTERESTS

Genetics (clinical), Molecular Medicine
90

Scopus Publications

3264

Scholar Citations

31

Scholar h-index

72

Scholar i10-index

Scopus Publications

RECENT SCHOLAR PUBLICATIONS

  • Analysis of Prevalence and Mortality Among Neonates and Children With Intestinal Atresia: A Multinational Study, 1974–2015
    A Carreño, MP Aguilera, L Ibañez, K Sarmiento, JA Gili, C Siffel, ...
    Birth Defects Research 118 (4), e70032 , 2026
    2026
  • ARTHROGRYPOSIS MULTIPLEX CONGENITA: A CASE-CONTROL STUDY ANALYZING RISK FACTORS FOR NEWBORN PRESENTATION IN BOGOTá AND CALI, COLOMBIA
    G Jovel-Trujillo, E Portilla-Rojas, J Lores, K Sarmiento, I Zarante
    Journal of Musculoskeletal Research 28 (04), 2550005 , 2025
    2025
  • Birth Defects and Mortality-Related Factors in Colombia: Insights from a Surveillance Cohort (2002-2019)
    P Pineda-Sanabria, E Portilla-Rojas, C Arbelaez-Hoyos, ...
    Sage Open Pediatrics 12, 30502225251383338 , 2025
    2025
  • The paramount role of palliative care in low-prevalence diseases
    JE Correa-Morales, MA Umbacia, C Martinez, I Zarante, AMG Liñeiro, ...
    International Journal of Palliative Nursing 31 (4), 181-188 , 2025
    2025
    Citations: 2
  • Transposition of the great vessels in Bogotá and Cali, Colombia: A current perspective
    P Pineda-Sanabria, C Arbelaez-Hoyos, E Portilla-Rojas, MP Díaz, ...
    Progress in Pediatric Cardiology 76, 101803 , 2025
    2025
    Citations: 1
  • Prevalence and characterization of tetralogy of Fallot: a comprehensive study
    P Pineda-Sanabria, MC León-Sanabria, C Arbelaez-Hoyos, V Harizanov, ...
    Revista Colombiana de Cardiología 32 (1), 39-45 , 2025
    2025
  • Prevalencia y caracterización de la tetralogía de Fallot: un estudio integral
    P Pineda-Sanabria, MC León-Sanabria, C Arbelaez-Hoyos, V Harizanov, ...
    Revista Colombiana de Cardiología 32 (1), 39-45 , 2025
    2025
  • Epidemiological characterization of clubfoot: a population-based study of a surveillance program in Colombia
    E Portilla-Rojas, P Pineda-Sanabria, L Ramírez, MI Cuevas, J Lores, ...
    Journal of Pediatric Orthopaedics B 34 (1), 9-13 , 2025
    2025
    Citations: 2
  • Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia
    JA Rojas Martínez, AM Zarante Bahamón, LV Salazar, AF Morales, ...
    Orphanet Journal of Rare Diseases 19 (1), 417 , 2024
    2024
  • A multicountry analysis of prevalence and mortality among neonates and children with bladder exstrophy
    V Kancherla, L Tandaki, M Sundar, A Lux, MK Bakker, JEH Bergman, ...
    American journal of perinatology 41 (09), 1143-1154 , 2024
    2024
    Citations: 7
  • Moving towards new horizons: the evolution of Universitas Medica
    I Zarante, DMA Saldaña, FA Flórez
    Universitas Médica 65 , 2024
    2024
  • Fenotipificación y genotipificación en pacientes con enfermedad inflamatoria intestinal en un centro de referencia de Colombia
    VP Izquierdo, AC Hani, C Romero-Sánchez, AI Sánchez, Y Laguado, ...
    Revista de Gastroenterología del Perú 44 (1), 26-34 , 2024
    2024
    Citations: 1
  • Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–2017
    ML Feldkamp, MA Canfield, S Krikov, D Prieto‐Merino, A Šípek Jr, ...
    Birth defects research 116 (2), e2306 , 2024
    2024
    Citations: 22
  • A case‐control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020
    E Portilla‐Rojas, L Ramírez, C Moreno, J Lores, K Sarmiento, I Zarante
    Birth Defects Research 116 (2), e2312 , 2024
    2024
    Citations: 3
  • <? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world
    MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ...
    Nucleic acids research 52 (D1), D1333-D1346 , 2024
    2024
    Citations: 437
  • Descripción epidemiológica y factores de riesgo de las anomalías congénitas del tracto genitourinario en Colombia (1982-2022), un estudio de casos y controles del ECLAMC.
    K Sarmiento, M Rojas-Rivillas, N Felipe-Niederbacher, ...
    ScientiaSpiritus 10 (2), 39-41 , 2024
    2024
  • Estudios de casos y controles: Asociación entre infecciones gestacionales y el desarrollo de defectos congénitos en recién nacidos de hospitales de la ciudad de Bogotá, durante …
    S López-Escrucería, S Saldaña-Franco, IM Perpiñán, DC Patiño-Cuervo, ...
    Pediatría 57 (3), e441-e441 , 2024
    2024
  • Panorama de la fenilcetonuria en Colombia
    BAM ZARANTE, MSM NAVARRO, JUC PRIETO, CL CABARCAS, ...
    Pediatría 57 (2), e494 , 2024
    2024
  • Phenotyping and genotyping in patients with inflammatory bowel disease in a reference center in Colombia
    AC Hani, C Romero-Sánchez, AI Sánchez, Y Laguado, AM Leguizamó, ...
    Revista de Gastroenterologia del Peru: Organo Oficial de la Sociedad de … , 2024
    2024
  • Risk factors characterisation for CHD: a case–control study in Bogota and Cali, Colombia, 2002–2020
    E Portilla, V Harizanov, K Sarmiento, J Holguín, G Gracia, P Hurtado-Villa, ...
    Cardiology in the Young 34 (1), 178-182 , 2024
    2024
    Citations: 6

MOST CITED SCHOLAR PUBLICATIONS

  • <? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world
    MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ...
    Nucleic acids research 52 (D1), D1333-D1346 , 2024
    2024
    Citations: 437
  • Hypospadias prevalence and trends in international birth defect surveillance systems, 1980–2010
    X Yu, N Nassar, P Mastroiacovo, M Canfield, B Groisman, ...
    European urology 76 (4), 482-490 , 2019
    2019
    Citations: 191
  • Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas
    I Zarante, L Franco, C López, N Fernández
    Biomédica 30 (1), 65-71 , 2010
    2010
    Citations: 176
  • Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis
    N Goel, JK Morris, D Tucker, HEK de Walle, MK Bakker, V Kancherla, ...
    American journal of medical genetics Part A 179 (12), 2382-2392 , 2019
    2019
    Citations: 155
  • Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study
    MD Politis, E Bermejo-Sánchez, MA Canfield, P Contiero, JD Cragan, ...
    Annals of epidemiology 56, 61-69. e3 , 2021
    2021
    Citations: 126
  • Prevalencia de malformaciones cardíacas congenitas en 44,985 nacimientos en Colombia §
    E Baltaxe, I Zarante
    Archivos de cardiología de México 76 (3), 263-268 , 2006
    2006
    Citations: 103
  • Haploinsufficiency of SF3B2 causes craniofacial microsomia
    AT Timberlake, C Griffin, CL Heike, AV Hing, ML Cunningham, D Chitayat, ...
    Nature communications 12 (1), 4680 , 2021
    2021
    Citations: 101
  • Calidad de vida en familias con niños menores de dos años afectados por malformaciones congénitas perspectiva del cuidador principal
    BP Ballesteros de Valderrama, M NOVOA GÓMEZ, L Muñoz, F Suárez, ...
    Universitas Psychologica 5 (3), 457-474 , 2006
    2006
    Citations: 81
  • Impact and risk factors of craniofacial malformations in a Colombian population
    I Zarante, MA López, A Caro, JC García-Reyes, JC Ospina
    International journal of pediatric otorhinolaryngology 73 (10), 1434-1437 , 2009
    2009
    Citations: 62
  • Brote de rabia humana transmitida por gato en el municipio de Santander de Quilichao, Colombia, 2008
    A Paez, L Polo, D Heredia, C Nuñez, M Rodriguez, C Agudelo, E Parra, ...
    Revista de salud publica 11, 931-943 , 2009
    2009
    Citations: 62
  • Evaluación de factores de riesgo asociados con malformaciones congénitas en el programa de vigilancia epidemiológica de malformaciones congénitas (ECLAMC) en Bogotá entre 2001 …
    AAMAA ZArAnte, GA GrAciA, I Zarante
    Universitas Médica 53 (1), 11-25 , 2012
    2012
    Citations: 56
  • Prevalencia y escala pronóstico para malformaciones congénitas en Colombia: La responsabilidad de pediatras y neonatólogos. Registro de 54.397 nacimientos
    N Fernández, I Zarante
    Revista de la Sociedad Colombiana de Neonatología UCIN 7, 28-32 , 2007
    2007
    Citations: 54
  • A multi‐country study of prevalence and early childhood mortality among children with omphalocele
    WN Nembhard, JEH Bergman, MD Politis, J Arteaga‐Vázquez, ...
    Birth defects research 112 (20), 1787-1801 , 2020
    2020
    Citations: 49
  • Analysis of mortality among neonates and children with spina bifida: an international registry‐based study, 2001‐2012
    MK Bakker, V Kancherla, MA Canfield, E Bermejo‐Sanchez, JD Cragan, ...
    Paediatric and perinatal epidemiology 33 (6), 436-448 , 2019
    2019
    Citations: 49
  • Epidemiología de las cardiopatías congénitas en Bogotá, Colombia en el período comprendido entre 2001 y 2014:¿ Mejoría en la vigilancia o aumento en la prevalencia
    S Tassinari, SM Vernaza, NE Morera, MCP Arciniegas, G Gracia, ...
    Biomédica. Revista del Instituto Nacional de Salud 38 (1), 141-148 , 2018
    2018
    Citations: 49
  • Prevalence of congenital heart disease in 44,985 newborns in Colombia
    E Baltaxe, I Zarante
    Archivos de cardiología de México 76 (3), 263-268 , 2006
    2006
    Citations: 48
  • Prevalence and mortality among children with anorectal malformation: A multi‐country analysis
    V Kancherla, M Sundar, L Tandaki, A Lux, MK Bakker, JEH Bergman, ...
    Birth defects research 115 (3), 390-404 , 2023
    2023
    Citations: 46
  • Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
    R Giugliani, S Castillo Taucher, S Hafez, JB Oliveira, M Rico-Restrepo, ...
    Frontiers in genetics 13, 1053559 , 2022
    2022
    Citations: 44
  • Defectos del tubo neural y ácido fólico: patogenia, metabolismo y desarrollo embriológico: Revisión de la literatura
    F Suárez-Obando, A Ordóñez-Vásquez, I Zarante
    Revista Colombiana de Obstetricia y Ginecología 61 (1), 49-60 , 2010
    2010
    Citations: 43
  • Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs
    JC Bell, G Baynam, JEH Bergman, E Bermejo‐Sánchez, LD Botto, ...
    Birth defects research 113 (12), 945-957 , 2021
    2021
    Citations: 37