Ignacio Zarante

@javeriana.edu.co

Instituto de Genetica Humana / Facultad de Medicina
Pontificia Universidad Javeriana

Ignacio Zarante


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https://researchid.co/izarante
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

  • Analysis of Prevalence and Mortality Among Neonates and Children With Intestinal Atresia: A Multinational Study, 1974–2015
    Angie Carreño, Maria Paula Aguilera, Lina Ibañez, Karen Sarmiento, Juan A. Gili, Csaba Siffel, Wendy N. Nembhard, Jorieke E. H. Bergman, Eva Bermejo‐Sánchez, Giovanna Tagliabue, Saeed Dastgiri, Marcia L. Feldkamp, Stephanie Pocius, Miriam Gatt, Laura Martínez, María Aurora Canessa, Boris Groisman, Karin Källén, Danielle Landau, Nathalie Lelong, Margery Morgan, Jazmín Arteaga‐Vázquez, Michele Santoroi, Anke Rissmann, Antonin Sipek, Elena Szabova, Wladimir Wertelecki, Mark A. Canfield, Pierpaolo Mastroiacovo, Ignacio Zarante
    Birth Defects Research, 2026
    Introduction Small intestinal atresia (SIA) consists of a congenital obstruction of the lumen of the duodenum, jejunum, or ileum with varying severity. The aim of the investigation was to analyze the prevalence and mortality of SIA, using data from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Methods Data on SIA cases were collected from 25 ICBDSR members' surveillance programs in 17 countries over 1974–2015. All pregnancy outcomes were included, but terminations of pregnancy were not available for 11 programs. Statistical analysis is descriptive, and the prevalence is established by the total of SIA cases divided by the total of births. The survival time was calculated, and mortality was analyzed individually using the Kaplan–Meier method for comparison. Results The total prevalence of SIA was 2.1 per 10,000 births. Iran had the highest prevalence with 11.5 per 10,000 total births (95% CI: 9–14.1); on the other hand, the lowest prevalence of SIA was in Mexico‐Nuevo Leon with 0.5 per 10,000 births (95% CI: 0.3–0.8), and Cali‐Colombia had zero cases. In South America, a higher prevalence of SIA was estimated compared to what was reported in 2000. Most deaths occurred between Day 2 and 6, except in Bogotá‐Colombia, Spain, UK‐Wales, and Mexico, where the deaths occurred on Day 1. The mortality in the first year was 4.3%, but the specific causes of death were not determined in this study. Conclusion The prevalence of SIA was about 2.1 per 10,000 births during a 41‐year period in 25 centers, with variations in prevalence according to geographical locations. Future research is suggested to analyze changes in trends and the impact of early diagnosis and treatment in mortality.
  • ARTHROGRYPOSIS MULTIPLEX CONGENITA: A CASE-CONTROL STUDY ANALYZING RISK FACTORS FOR NEWBORN PRESENTATION IN BOGOTá AND CALI, COLOMBIA
    Gabriela Jovel-Trujillo, Esteban Portilla-Rojas, Juliana Lores, Karen Sarmiento, Ignacio Zarante
    Journal of Musculoskeletal Research, 2025
    Background: Arthrogryposis Multiplex Congenita (AMC) is a rare musculoskeletal birth defect, our objective is to conduct an epidemiological characterization of the prevalence and risk factors associated with the presentation of AMC in newborns. Methods: A population-based case-control study was performed with the data from the Program for the Prevention and Surveillance of Birth Defects and Rare Diseases of Bogotá and Cali (PREVERDEC) from January 2002 to March 2020. Including 29 cases of AMC and 126 controls. Prevalence was calculated per 10,000 Live Births (LB) with a 95% confidence interval. Demographic factors were analyzed using Student’s [Formula: see text]-test, and risk factors for AMC were assessed through univariate regression. Results: The prevalence of AMC amounted to 0.52 cases per 10,000 LB (95% CI: 0.35–0.75). Increased association for AMC was found in cases with low birth weight (<2,500 g), low gestational age (<37 weeks), and presence of polyhydramnios. Decreased risk association was found in cases with paternal age >35 years, male newborns and folic acid consumption. Conclusion: This study explores the prevalence and risk factors of AMC in Bogotá and Cali, Colombia, aiming to mitigate morbidity in susceptible populations. Establishing surveillance systems for congenital abnormalities is crucial for enhancing AMC identification, diagnosis, and early treatment.
  • Birth Defects and Mortality-Related Factors in Colombia: Insights from a Surveillance Cohort (2002-2019)
    Pablo Pineda-Sanabria, Esteban Portilla-Rojas, Catalina Arbelaez-Hoyos, Valentina Baquero-Castro, Juliana Lores, Karen Sarmiento, Ignacio Zarante
    Sage Open Pediatrics, 2025
    Introduction: Birth defects are a leading cause of neonatal mortality worldwide, particularly in low- and middle-income countries. In Latin America, longitudinal studies on BD prevalence and mortality remain limited. Objectives: To describe BD epidemiology in Bogotá and Cali (2002-2019), focusing on prevalence, in-hospital mortality, and associated maternal and neonatal factors. Methods: We conducted a retrospective, population-based cohort study using PREVERDEC surveillance data from 558 057 births, following Latin American Collaborative Study of Congenital Malformations (ECLAMC) methodology. BD prevalence was expressed per 10 000 live births, and Cox regression identified mortality risk factors. Results: BD prevalence was 126.8 (95% CI: 123.9-129.8) per 10 000 live births, with musculoskeletal anomalies most common. Neonatal mortality was 0.26 per 1000 live births. Mortality risk was higher in preterm infants, those with major BD, and circulatory system defects. Conclusion: This study provides updated evidence on BD in Colombia, highlighting risk factors for adverse outcomes.
  • The paramount role of palliative care in low-prevalence diseases
    Juan Esteban Correa-Morales, Maria Alejandra Umbacia, Catalina Martinez, Ignacio Zarante, Aurora Marixa Guerrero Liñeiro, Sara Giraldo-Moreno, Marta Ximena León
    International Journal of Palliative Nursing, 2025
    Background: Low-prevalence diseases (LPDs), previously referred to as orphan diseases or rare diseases, entail a substantial potential for mortality and impose a remarkable burden of symptoms for patients. The process of diagnosing these diseases is often lengthy, and viable treatment options for such conditions are scarce, or in some cases, non-existent. Methods: A narrative review was carried out following the Scale for the Assessment of Narrative Review Articles (SANRA) methodology to establish the role of palliative care in the treatment and follow-up of patients with LPDs. A search was carried out by a multidisciplinary team in EMBASE, PUBMED, Web of Science, CINHAL and OVID. Peer-reviewed articles reporting on the role of palliative care in the multidisciplinary treatment of LPDs were included. Results: The review identified significant areas where palliative care specialists play a crucial role in caring for LPDs. These areas include addressing complex physical and emotional symptoms, assisting patients in adjusting their expectations through genetic counselling, facilitating decision-making across short, medium and long-term perspectives based on disease prognosis, and offering support with care transitions, advanced planning and the grieving process for families. Conclusion: Patients with LPDs and their caregivers experience complex care needs that should be assessed by a palliative care specialist and supported by a multidisciplinary medical group.
  • Transposition of the great vessels in Bogotá and Cali, Colombia: A current perspective
    Pablo Pineda-Sanabria, Catalina Arbelaez-Hoyos, Esteban Portilla-Rojas, María Paula Díaz, Edgar Manuel Alvarado, Juan Sebastián Villarraga, Juliana Lores, Karen Sarmiento, Ignacio Zarante
    Progress in Pediatric Cardiology, 2025
  • Epidemiological characterization of clubfoot: a population-based study of a surveillance program in Colombia
    Esteban Portilla-Rojas, Pablo Pineda-Sanabria, Lina Ramírez, Maria Isabel Cuevas, Juliana Lores, Karen Sarmiento, Ignacio Zarante
    Journal of Pediatric Orthopedics Part B, 2025
    Clubfoot is a common musculoskeletal congenital abnormality, with a prevalence of 5–20 cases per 10 000 live births in low to middle-income countries. If left untreated, clubfoot causes severe consequences for the child: gait disturbances, reduced quality of life, and limited work opportunities. Our objective was to characterize clubfoot and determine its prevalence and associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020. A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with clubfoot, while controls consisted of infants without congenital abnormalities, matched in terms of birth date and hospital. Prevalence was calculated considering a 95% confidence interval using Poisson distribution, and risk factors were assessed through adjusted odds ratios obtained by logistic regression model. Of 558 255 births, 861 cases of clubfoot were identified, 48.20% were postural clubfoot, and 15 cases were syndromic clubfoot. In Bogota, prevalence rate was 15.1 per 10 000 live births, whereas in Cali it was 17.29 per 10 000 live births. Family history of clubfoot within first-degree relatives was identified as a risk factor for clubfoot. Investigating risk factors for clubfoot holds significant importance in terms of preventing and reducing morbidity within this population. Helping to drive government and healthcare initiatives aimed at providing timely and effective treatment.
  • Prevalence and characterization of tetralogy of Fallot: a comprehensive study
    Pablo Pineda-Sanabria, María C. León-Sanabria, Catalina Arbelaez-Hoyos, Vyara Harizanov, Ana Ma. Urueña-Serrano, Karen Sarmiento, Ignacio Zarante
    Revista Colombiana De Cardiologia, 2025
    Introducción: la tetralogía de Fallot (TF) es una anomalía congénita cardiovascular con una prevalencia global de 3.56 casos por 10,000 nacidos vivos (NV), según Liu et. al en el 2019. Objetivo: determinar la prevalencia y describir los casos de TF en Bogotá, Colombia entre el 2015 y el 2021. Método: se realizó un estudio retrospectivo de corte transversal, con datos obtenidos del Sistema nacional de vigilancia en salud pública (SIVIGILA). Los casos fueron definidos como el total de NV con TF, con un peso al nacer mayor a 500 g. Resultados: la prevalencia estimada para la TF fue de 2.21 (IC: 1.85-2.61) casos por 10 000 NV, con un total de 137 casos. La prevalencia máxima se observó en el 2015, con una tasa de 1.26 (IC: 0.67-2.18) por 10 000 NV. La media de peso al nacer fue de 2575.9 g (DE 660.5), con una media de edad gestacional al nacer de 35.85 semanas (DE 3.95). La media de edad materna fue de 29.1 años (DE 7.05). Se observó una tasa de mortalidad de 17.51%. Se halló que el 10.95% de los casos no se encontraban afiliados al sistema de salud. Se identificaron casos de síndrome de Down (n = 9) y Edwards (n = 4). Conclusiones: la prevalencia de TF en Bogotá fue inferior a la reportada en estimaciones globales existentes; sin embargo, se observó un aumento en la prevalencia con respecto a estimaciones previas en la ciudad, atribuible a mejoras en el sistema de vigilancia.
  • A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy
    Vijaya Kancherla, Lucita Tandaki, Manasvi Sundar, Anke Lux, Marian K Bakker, Jorieke EH Bergman, Eva Bermejo-Sánchez, Mark A Canfield, Marcia L Feldkamp, Boris Groisman, Paula Hurtado-Villa, Karin Källén, Danielle Landau, Nathalie Lelong, Jorge Lopez-Camelo, Pierpaolo Mastroiacovo, Margery Morgan, Osvaldo M Mutchinick, Amy E Nance, Wendy N Nembhard, Anna Pierini, Antonin Šípek, Erin B Stallings, Elena Szabova, Wladimir Wertelecki, Ignacio Zarante, Anke Rissmann
    American Journal of Perinatology, 2024
    Objective Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the total prevalence, trends in prevalence, and age-specific mortality among individuals with BE. Study Design We conducted a retrospective cohort study. Data were analyzed from 20 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research in 16 countries. Live births, stillbirths, and elective terminations of pregnancy for fetal anomaly (ETOPFA) diagnosed with BE from 1974 to 2014. Pooled and program-specific prevalence of BE per 100,000 total births was calculated. The 95% confidence intervals (CI) for prevalence were estimated using Poisson approximation of binomial distribution. Time trends in prevalence of BE from 2000 to 2014 were examined using Poisson regression. Proportion of deaths among BE cases was calculated on the day of birth, day 2 to 6, day 7 to 27, day 28 to 364, 1 to 4 years, and ≥5 years. Mortality analysis was stratified by isolated, multiple, and syndromic case status. Results The pooled total prevalence of BE was 2.58 per 100,000 total births (95% CI = 2.40, 2.78) for study years 1974 to 2014. Prevalence varied over time with a decreasing trend from 2000 to 2014. The first-week mortality proportion was 3.5, 17.3, and 14.6% among isolated, multiple, and syndromic BE cases, respectively. The majority of first-week mortality occurred on the first day of life among isolated, multiple, and syndromic BE cases. The proportion of first-week deaths was higher among cases reported from programs in Latin America where ETOPFA services were not available. Conclusion Prevalence of BE varied by program and showed a decreasing trend from 2000 to –2014. Mortality is a concern among multiple and syndromic cases, and a high proportion of deaths among cases occurred during the first week of life. Key Points
  • A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020
    Esteban Portilla‐Rojas, Lina Ramírez, Camilo Moreno, Juliana Lores, Karen Sarmiento, Ignacio Zarante
    Birth Defects Research, 2024
    BackgroundPolydactyly is a congenital abnormality characterized by the presence of additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of musculoskeletal congenital abnormalities in 2021, with a prevalence of 6.03 per 10,000 live births. The purpose of this study was to determine the prevalence of polydactyly and identify associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020.MethodsA retrospective case‐control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow‐up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with polydactyly, while controls consisted of infants without congenital abnormality, matched in terms of birth date and hospital. Prevalence of polydactyly was calculated and risk factors were assessed through odds ratios obtained by logistic regression models, considering a 95% confidence interval.ResultsAmong the 558,255 births included in the study, 848 cases of polydactyly were identified, resulting in a prevalence rate of 15.19 per 10,000 live births. Risk factors associated with polydactyly included male newborn sex, pregestational diabetes, and a family history of malformation among first‐degree relatives.ConclusionThese findings highlight the importance a surveillance system aimed to characterize populations with congenital abnormalities, providing a better option for analyzing risk factors, help improving prevention, diagnosis, notification, and optimal treatment in patients.
  • Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–2017
    Marcia L. Feldkamp, Mark A. Canfield, Sergey Krikov, David Prieto‐Merino, Antonin Šípek, Nathalie LeLong, Emmanuelle Amar, Anke Rissmann, Melinda Csaky‐Szunyogh, Giovanna Tagliabue, Anna Pierini, Miriam Gatt, Jorieke E. H. Bergman, Elena Szabova, Eva Bermejo‐Sánchez, David Tucker, Saeed Dastgiri, María Paz Bidondo, Aurora Canessa, Ignacio Zarante, Paula Hurtado‐Villa, Laura Martinez, Osvaldo M. Mutchinick, Jorge Lopez Camelo, Adriana Benavides‐Lara, Mary Ann Thomas, Shiliang Liu, Wendy N. Nembhard, Elizabeth B. Gray, Amy E. Nance, Pierpaolo Mastroiacovo, Lorenzo D. Botto
    Birth Defects Research, 2024
    BackgroundGastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population.MethodsWe analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe+ (includes Iran), Latin America, North America). Cases were identified using diagnostic codes (i.e., 756.7, 756.71, or Q79.3). We excluded cases of amniotic band syndrome, limb–body wall defect, and ruptured omphalocele. Programs provided annual counts for gastroschisis cases (live births, stillbirths, and legally permitted pregnancy terminations for fetal anomalies) and source population (live births, stillbirths), by maternal age.ResultsOverall, gastroschisis occurred in 1 of every 3268 births (3.06 per 10,000 births; 95% confidence intervals [CI]: 3.01, 3.11), with marked regional variation. European+ prevalence was 1.49 (95%CI: 1.44, 1.55), Latin American 3.80 (95%CI: 3.69, 3.92) and North American 4.32 (95%CI: 4.22, 4.42). A statistically significant increasing time trend was observed among six European+, four Latin American, and four North American programs. Women <20 years of age had the highest prevalence in all programs except the Slovak Republic.ConclusionsGastroschisis prevalence increased over time in 61% of participating programs, and the highest increase in prevalence was observed among the youngest women. Additional inquiry will help to assess the impact of the changing maternal age proportions in the birth population on gastroschisis prevalence.
  • Risk factors characterisation for CHD: a case-control study in Bogota and Cali, Colombia, 2002-2020
    Esteban Portilla R., Vyara Harizanov, Karen Sarmiento, Jorge Holguín, Gloria Gracia, Paula Hurtado-Villa, Ignacio Zarante
    Cardiology in the Young, 2024
  • The Human Phenotype Ontology in 2024: phenotypes around the world
    Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert B A de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J M Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun (Oliver) He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O B Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
    Nucleic Acids Research, 2024
  • Phenotyping and genotyping in patients with inflammatory bowel disease in a reference center in Colombia
    Viviana Parra Izquierdo, Albis Cecilia Hani, Consuelo Romero-Sánchez, Ana Isabel Sánchez, Yuly Laguado, Ana María Leguizamó, Juan Sebastián Frías-Ordoñez, Gerardo Andrés Puentes, Ignacio Zarante
    Revista De Gastroenterologia Del Peru Organo Oficial De La Sociedad De Gastroenterologia Del Peru, 2024
  • Exploring the prevalence of birth defects of the gastrointestinal tract in newborns: A Six-year analysis in Bogotá, Colombia
    Catalina Correa, Sandra Pastrán, María Camila León-Sanabria, María Paula Aguilera-Pena, José Nieto, Ana María Urueña-S fgerrano, Ignacio Zarante
    Journal of Pediatric Surgery Open, 2023
  • Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
    Natalia Ogonowski, Hernando Santamaria-Garcia, Sandra Baez, Andrea Lopez, Andrés Laserna, Elkin Garcia-Cifuentes, Paola Ayala-Ramirez, Ignacio Zarante, Fernando Suarez-Obando, Pablo Reyes, Marcelo Kauffman, Nick Cochran, Michael Schulte, Daniel W Sirkis, Salvatore Spina, Jennifer S Yokoyama, Bruce L Miller, Kenneth S Kosik, Diana Matallana, Agustín Ibáñez
    Journal of Medical Genetics, 2023
  • Current situation of rare diseases in Bogotá: Notification to Sivigila from 2019 to 2022
    Julián Serrano Giraldo, Martha P. Becerra Muñoz, Jennifer A. Tijaro Santos, Ignacio Zarante
    Revista De Salud Publica Bogota Colombia, 2023
  • Congenital hypothyroidism in Bogotá, Colombia: A current description (2015-2021)
    Pablo Pineda-Sanabria, Esteban Portilla-Rojas, María Camila León-Sanabria, Daniela-Sofía Beltrán-Barriga, Alexander Salazar-Reviakina, Ana María Urueña Serrano, Karen Sarmiento, Ignacio Zarante
    Journal of Pediatric Endocrinology and Metabolism, 2023
  • Infrequent association of OEIS complex with a diaphragmatic defect
    Paola Catalina Torres, Lina Paola Montaña-Jiménez, Ayelet Ramirez-Corredor, Yaris Anzully Vargas Vaca, Ignacio Zarante, Ruth Liliana Lopez Cruz
    Andes Pediatrica, 2023
  • Identification of barriers in medical care service for children eith congenital defects detected in the AIVA program
    Alba Carolina Ibáñez Morantes, Karen Sarmiento Acuña, Fernando Suárez Obando, Ignacio Zarante
    Revista De Salud Publica Bogota Colombia, 2023
  • Prevalence and mortality among children with anorectal malformation: A multi-country analysis
    Vijaya Kancherla, Manasvi Sundar, Lucita Tandaki, Anke Lux, Marian K Bakker, Jorieke EH Bergman, Eva Bermejo‐Sánchez, Mark A. Canfield, Saeed Dastgiri, Marcia L. Feldkamp, Miriam Gatt, Boris Groisman, Paula Hurtado‐Villa, Kärin Kallen, Danielle Landau, Nathalie Lelong, Jorge Lopez‐Camelo, Laura Elia Martinez, Pierpaolo Mastroiacovo, Margery Morgan, Osvaldo M. Mutchinick, Amy E. Nance, Wendy N. Nembhard, Anna Pierini, Antonin Sipek, Erin B. Stallings, Elena Szabova, Giovanna Tagliabue, Wladimir Wertelecki, Ignacio Zarante, Anke Rissmann
    Birth Defects Research, 2023
  • Damaging variants in FOXI3 cause microtia and craniofacial microsomia
    Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman
    Genetics in Medicine, 2023
  • Association between Genitourinary and Congenital Heart Defects: A 52-year Case-Control Study of the Latin American Collaborative Study of Congenital Malformations (ECLAMC)
    Nicolas Fernandez, Daniela Varela, Juliana Villanueva, Jorge Lopez Camelo, Ignacio Zarante
    Urologia Colombiana, 2022
  • Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
    Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, Joao Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga-Jauregui
    Frontiers in Genetics, 2022
  • Creation of a Pilot Surgical Program for the Comprehensive Management of Patients with Congenital Urological Malformations
    Nicolas Fernandez, Juliana Villanueva Congote, Daniela Varela, Juan Guillermo Prada, Ignacio Zarante, Juan Enrique Seba, Jaime Francisco Perez, Julio Cesar Castellanos
    Urologia Colombiana, 2022
  • Association between risk polymorphisms for neurodegenerative diseases and cognition in colombian patients with frontotemporal dementia
    Andrea López-Cáceres, Francy Cruz-Sanabria, Pilar Mayorga, Ana Isabel Sanchez, Silvia Gonzalez-Nieves, Paola Ayala-Ramírez, Ignacio Zarante, Diana Matallana
    Frontiers in Neurology, 2022
  • Analysis of early neonatal case fatality rate among newborns with congenital hydrocephalus, a 2000–2014 multi-country registry-based study
    Juan Antonio Gili, Jorge Santiago López‐Camelo, Wendy N. Nembhard, Marian Bakker, Hermien E. K. de Walle, Erin B. Stallings, Vijaya Kancherla, Paolo Contiero, Saeed Dastgiri, Marcia L. Feldkamp, Amy Nance, Miriam Gatt, Laura Martínez, María Aurora Canessa, Boris Groisman, Paula Hurtado‐Villa, Karin Källén, Danielle Landau, Nathalie Lelong, Margery Morgan, Jazmín Arteaga‐Vázquez, Anna Pierini, Anke Rissmann, Antonin Sipek, Elena Szabova, Wladimir Wertelecki, Ignacio Zarante, Mark A. Canfield, Pierpaolo Mastroiacovo, and
    Birth Defects Research, 2022
  • Prevalence of aortic coarctation in Bogotá-Colombia from 2001 to 2018. The diagnostic needs to improve
    Daniel F. Ardila, Angela G. Rincón-Montana, Laura D. García-Pérez, Gloria Gracia, Ignacio Zarante, Daniel F. Ardila, Angela G. Rincón-Montana, Laura D. García-Pérez, Gloria Gracia, Ignacio Zarante
    Archivos De Cardiologia De Mexico, 2022
  • IN VITRO STUDIES OF DNARECOVERED FROM INCINERATED TEETH
    Forensic Genetics Research Progress, 2022
  • MicroRNAs as Potential Liquid Biopsy Biomarker for Patients with Castration-Resistant Prostate Cancer
    Nicolas Fernandez, Julian Chavarriaga, Paola Ayala, Adriana Pedraza, John Bolivar, Juan Guillermo Prada, Juan Guillermo Cataño, Herney Garcia, Juliana Villanueva, Daniela Varela, Ignacio Zarante
    Research and Reports in Urology, 2022
  • Association between maternal infections during pregnancy and congenital defects in their offspring: a population-based case-control study in Bogota and Cali, Colombia 2001–2018
    Jose Rumbo, Ithzayana Madariaga-P, Alexander Salazar-Reviakina, Maria Sierra-Breton, Catherin Tovar, Diana Sequera, Catherin Rodríguez, Jorge Holguín, Paula Hurtado-Villa, Karen Sarmiento, Ignacio Zarante
    Journal of Maternal Fetal and Neonatal Medicine, 2022
  • Geographical Distribution of Access to Healthcare in Patients Diagnosed with Hypospadias
    Nicolas Fernandez, Jessica Santander, Marcela Pérez-Sosa, Alejandro Agudelo, Daniel Sánchez, Nevianni Vélez, Ignacio Zarante, Andres Gutierrez
    Urologia Colombiana, 2021
  • Haploinsufficiency of SF3B2 causes craniofacial microsomia
    Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti, and
    Nature Communications, 2021
  • Prevalence of microcephaly: The Latin American Network of Congenital Malformations 2010-2017
    Joan Morris, Ieda M Orioli, Adriana Benavides-Lara, María de la Paz Barboza-Arguello, Maria Aurora Canessa Tapia, Giovanny Vinícius Araújo de França, Boris Groisman, Jorge Holguin, Paula Margarita Hurtado-Villa, Marisol Ibarra Ramirez, Cecilia Mellado, Rosa Pardo, Dania Maria Pastora Bucardo, Catherin Rodríguez, Ignacio Zarante, Elizabeth Limb, Helen Dolk
    BMJ Paediatrics Open, 2021
  • Parental Reports of Intervention Services and Prevalence of Teasing in a Multinational Craniofacial Microsomia Pediatric Study
    Alexis L. Johns, Daniela V. Luquetti, Carrie L. Heike, Amelia F. Drake, Milagros M. Dueñas Roque, Paula Hurtado-Villa, Harry Pachajoa, Gloria Liliana Porras-Hurtado, Ignacio Zarante, Leanne Magee
    Journal of Craniofacial Surgery, 2021
  • Description and results of birth defects surveillance and follow-up programs in Bogotá and Cali, Colombia, 2002–2019
    Ignacio Zarante, Angie Carolina Carreño‐Martinez, Lina Maria Ibañez, Gloria Gracia, Esperanza Blandón, Gladys Perez, Jorge Holguín, Paula Hurtado‐Villa
    American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2021
  • Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population
    Andrea López-Cáceres, María Velasco-Rueda, Elkin Garcia-Cifuentes, Ignacio Zarante, Diana Matallana
    Frontiers in Neurology, 2021
  • Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs
    Jane C. Bell, Gareth Baynam, Jorieke E. H. Bergman, Eva Bermejo‐Sánchez, Lorenzo D. Botto, Mark A. Canfield, Saeed Dastgiri, Miriam Gatt, Boris Groisman, Paula Hurtado‐Villa, Karin Kallen, Babak Khoshnood, Victoria Konrad, Danielle Landau, Jorge S. Lopez‐Camelo, Laura Martinez, Margery Morgan, Osvaldo M. Mutchinick, Amy E. Nance, Wendy Nembhard, Anna Pierini, Anke Rissmann, Xiaoyi Shan, Antonin Sipek, Elena Szabova, Giovanna Tagliabue, Lyubov S. Yevtushok, Ignacio Zarante, Natasha Nassar
    Birth Defects Research, 2021
  • Characterization of Risk Factors for Neural Tube Defects: A Case-Control Study in Bogota and Cali, Colombia, 2001-2018
    Alexander Salazar-Reviakina, Manuela Sierra-Bretón, Jose Rumbo, Ithzayana Madariaga, Catherin Tovar, Mateo Uribe, Carolina Sequera, Catherin Rodríguez, Jorge Holguín, Karen Sarmiento, Paula Hurtado-Villa, Ignacio Zarante
    Journal of Child Neurology, 2021
  • Chromosomal and SRY gene findings by FISH in patients with disorders of sexual development
    Laura Andrea Herrera, Ignacio Zarante, Ana Clavijo, Fernando Suárez, Adriana Patricia Rojas, Jaime Pérez, Camila Céspedes, Catalina Forero, Nicolás Fernández, John Bolívar, Olga Moreno-Niño
    Revista Mexicana De Urologia, 2021
  • Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study
    Maria D. Politis, Eva Bermejo-Sánchez, Mark A. Canfield, Paolo Contiero, Janet D. Cragan, Saeed Dastgiri, Hermien E.K. de Walle, Marcia L. Feldkamp, Amy Nance, Boris Groisman, Miriam Gatt, Adriana Benavides-Lara, Paula Hurtado-Villa, Kärin Kallén, Danielle Landau, Nathalie Lelong, Jorge Lopez-Camelo, Laura Martinez, Margery Morgan, Osvaldo M. Mutchinick, Anna Pierini, Anke Rissmann, Antonin Šípek, Elena Szabova, Wladimir Wertelecki, Ignacio Zarante, Marian K. Bakker, Vijaya Kancherla, Pierpaolo Mastroiacovo, Wendy N. Nembhard
    Annals of Epidemiology, 2021
  • CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease
    Tatiana Pineda, Ignacio Zarante, Angela Camila Paredes, Juan Pablo Rozo, Martha C. Reyes, Olga María Moreno-Niño
    Clinical Medicine Insights Cardiology, 2021
  • The Latin American network for congenital malformation surveillance: ReLAMC
    Iêda Maria Orioli, Helen Dolk, Jorge Lopez‐Camelo, Boris Groisman, Adriana Benavides‐Lara, Lucas Gabriel Gimenez, Daniel Mattos Correa, Marta Ascurra, Eliana de Aquino Bonilha, Maria Aurora Canessa‐Tapia, Giovanny Vinícius Araújo de França, Paula Hurtado‐Villa, Marisol Ibarra‐Ramírez, Rosa Pardo, Dania Maria Pastora, Ignacio Zarante, Flávia Schneider Soares, Flávia Martinez de Carvalho, Mariana Piola, ReLAMC Group
    American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2020
  • A multi-country study of prevalence and early childhood mortality among children with omphalocele
    Wendy N. Nembhard, Jorieke E. H. Bergman, Maria D. Politis, Jazmín Arteaga‐Vázquez, Eva Bermejo‐Sánchez, Mark A. Canfield, Janet D. Cragan, Saeed Dastgiri, Hermien E. K. de Walle, Marcia L. Feldkamp, Amy Nance, Miriam Gatt, Boris Groisman, Paula Hurtado‐Villa, Kärin Kallén, Danielle Landau, Nathalie Lelong, Jorge Lopez‐Camelo, Laura Martinez, Margery Morgan, Anna Pierini, Anke Rissmann, Antonin Šípek, Elena Szabova, Giovanna Tagliabue, Wladimir Wertelecki, Ignacio Zarante, Marian K. Bakker, Vijaya Kancherla, Pierpaolo Mastroiacovo
    Birth Defects Research, 2020
  • MYT1 role in the microtia-craniofacial microsomia spectrum
    Daniela V. Luquetti, Carrie L. Heike, Ignacio Zarante, Andrew E. Timms, Jonas Gustafson, Harry Pachajoa, Gloria L. Porras‐Hurtado, Paola Ayala‐Ramirez, Milagros M. Duenas‐Roque, Natalia Jimenez, Lina M. Ibanez, Paula Hurtado‐Villa
    Molecular Genetics and Genomic Medicine, 2020
  • Risk factors for congenital heart disease: A case-control study
    Manuel Giraldo-Grueso, Ignacio Zarante, Alejandro Mejía-Grueso, Gloria Gracia
    Revista Colombiana De Cardiologia, 2020
  • Social and Clinical Impact of Congenital Urological Malformations in a Developing Country: The Need for a Transdisciplinary Way of Treatment
    Nicolás Fernández, Angie Puerto Niño, Dan Jaim Arreaza Kaufman, Gloria Gracia, Lina Ibañez, Carolina Acevedo, Ignacio Zarante
    Urologia Colombiana, 2019
  • Trisomy 13 and 18—Prevalence and mortality—A multi-registry population based analysis
    Nitin Goel, Joan K. Morris, David Tucker, Hermien E. K. de Walle, Marian K. Bakker, Vijaya Kancherla, Lisa Marengo, Mark A. Canfield, Karin Kallen, Nathalie Lelong, Jorge L. Camelo, Erin B. Stallings, Abbey M. Jones, Amy Nance, My‐Phuong Huynh, Maria‐Luisa Martínez‐Fernández, Antonin Sipek, Anna Pierini, Wendy N. Nembhard, Dorit Goetz, Anke Rissmann, Boris Groisman, Leonora Luna‐Muñoz, Elena Szabova, Serhiy Lapchenko, Ignacio Zarante, Paula Hurtado‐Villa, Laura E. Martinez, Giovanna Tagliabue, Danielle Landau, Miriam Gatt, Saeed Dastgiri, Margery Morgan
    American Journal of Medical Genetics Part A, 2019
  • Risk factors associated with congenital defects that alter hearing or vision in children born in the city of Bogotá between 2002 and 2016
    M. Manotas, K. Sarmiento, A. Ibañez-Morantes, F. Suárez-Obando, N. Gelvez, G. López, P. Ayala-Ramírez, J. Angel, J. Prieto, N. Tamayo, S. Puentes, C. Rodríguez, M.L. Tamayo, I. Zarante
    International Journal of Pediatric Otorhinolaryngology, 2019
  • Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012
    Marian K. Bakker, Vijaya Kancherla, Mark A. Canfield, Eva Bermejo‐Sanchez, Janet D. Cragan, Saeed Dastgiri, Hermien E. K. De Walle, Marcia L. Feldkamp, Boris Groisman, Miriam Gatt, Paula Hurtado‐Villa, Karin Kallen, Daniella Landau, Nathalie Lelong, Jorge S. Lopez Camelo, Laura Martínez, Margery Morgan, Osvaldo M. Mutchinick, Wendy N. Nembhard, Anna Pierini, Anke Rissmann, Antonin Sipek, Elena Szabova, Giovanna Tagliabue, Wladimir Wertelecki, Ignacio Zarante, Pierpaolo Mastroiacovo
    Paediatric and Perinatal Epidemiology, 2019
  • Perinatal mortality associated with congenital defects of the central nervous system in Colombia, 2005–2014
    M. Sierra, J. Rumbo, A. Salazar, K. Sarmiento, F. Suarez, I. Zarante
    Journal of Community Genetics, 2019
  • Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010
    Xiao Yu, Natasha Nassar, Pierpaolo Mastroiacovo, Mark Canfield, Boris Groisman, Eva Bermejo-Sánchez, Annukka Ritvanen, Sonja Kiuru-Kuhlefelt, Adriana Benavides, Antonin Sipek, Anna Pierini, Fabrizio Bianchi, Karin Källén, Miriam Gatt, Margery Morgan, David Tucker, M. Aaurora Canessa, Rosa Gajardo, Osvaldo M. Mutchinick, Elena Szabova, Melinda Csáky-Szunyogh, Giovanna Tagliabue, Janet D. Cragan, Wendy N. Nembhard, Anke Rissmann, Dorit Goetz, Carol Bower, Gareth Baynam, R. Brian Lowry, Juan A. Leon, Wei Luo, Jocelyn Rouleau, Ignacio Zarante, Nicolas Fernandez, Emmanuelle Amar, Saeed Dastgiri, Paolo Contiero, Laura E. Martínez-de-Villarreal, Barry Borman, J.E.H. Bergman, Hermien E.K. de Walle, Charlotte A. Hobbs, Amy E. Nance, A.J. Agopian
    European Urology, 2019
  • Birth defects surveillance: experiences in Argentina and Colombia
    Boris Groisman, Rosa Liascovich, María Paz Bidondo, Pablo Barbero, Santiago Duarte, Ana Laura Tellechea, Jorge Holguín, Catherine Rodríguez, Paula Hurtado-Villa, Natalia Caicedo, Gabriela Botta, Ignacio Zarante
    Journal of Community Genetics, 2019
  • 22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate
    Suleima Carpeta, Tatiana Pineda, Maria Claudia Martínez, Gloria Osorio, Gloria Liliana Porras-Hurtado, Jorge Rojas, Ignacio Zarante, Olga María Moreno-Niño
    Cleft Palate Craniofacial Journal, 2019
  • A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean
    Ignacio Zarante, Paula Hurtado-Villa, Salimah R. Walani, Vijaya Kancherla, Jorge López Camelo, Roberto Giugliani, Boris Groisman, Christopher P. Howson, Pablo Durán
    Revista Panamericana De Salud Publica Pan American Journal of Public Health, 2019
  • Clinical and epidemiologic description of orofacial clefts in Bogota and Cali, Colombia, 2001-2015
    K. Sarmiento, S. Valencia, G. Gracia, P. Hurtado-Villa, I. Zarante
    Cleft Palate Craniofacial Journal, 2018
  • Epidemiology of congenital heart diseases in Bogota, Colombia in the period between 2001 to 2014: Improvement of surveillance or prevalence increase?
    Stefano Tassinari, Samuel Martínez-Vernaza, Nicole Erazo-Morera, María Camila Pinzón-Arciniegas, Gloria Gracia, Ignacio Zarante
    Biomedica, 2018
  • Description of a novel variant in the MAMLD1 gene in isolated hypospadias
    Urologia Colombiana, 2018
  • Raised Frequency of Microcephaly Related to Zika Virus Infection in Two Birth Defects Surveillance Systems in Bogotá and Cali, Colombia
    Paula Hurtado-Villa, Angie K. Puerto, Salomé Victoria, Gloria Gracia, Lesly Guasmayán, Patricia Arce, Gilberto Álvarez, Esperanza Blandón, Nubia Rengifo, Jorge A. Holguín, Alexander Durán, Ignacio Zarante
    Pediatric Infectious Disease Journal, 2017
  • Commentary to: Does maternal exposure during pregnancy to higher ambient temperature increase the risk of hypospadias?
    Nicolas Fernandez, Ignacio Zarante
    Journal of Pediatric Urology, 2017
  • ECLAMC study: Prevalence patterns of hypospadias in South America: Multi-national analysis over a 24-year period
    Nicolás Fernández, Jaime Pérez, Pedro Monterrey, Fernando A. Poletta, Darius J. Bägli, Armando J. Lorenzo, Ignacio Zarante
    International Braz J Urol, 2017
  • Commentary to “Worldwide prevalence of hypospadias”
    Nicolas Fernández, Jaime Perez, Ignacio Zarante
    Journal of Pediatric Urology, 2016
  • Altitude as a risk factor for the development of hypospadias. Geographical cluster distribution analysis in South America
    Nicolas Fernández, Armando Lorenzo, Darius Bägli, Ignacio Zarante
    Journal of Pediatric Urology, 2016
  • Description of Bogotá Birth Defects Surveillance and Follow-up Program
    Journal of Registry Management, 2016
  • Risk factors for congenital diaphragmatic hernia in the Bogota birth defects surveillance and follow-up program, Colombia
    Ana M. García, S. Machicado, G. Gracia, I. M. Zarante
    Pediatric Surgery International, 2016
  • Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America
    Nicolas Fernandez, Rebeca Escobar, Ignacio Zarante
    International Braz J Urol, 2016
  • Re: Fenneke Blom, Jorieke E.H. Bergman, Hermien E.K. de Walle. Are Congenital Urinary Tract and Genital Organ Anomalies Related to Folic Acid? Eur Urol 2016;69:544–6
    Fernández Nicolas, Jaime Perez, Ignacio Zarante
    European Urology, 2016
  • Is hypospadias a spectrum of different diseases? MAMLD1 gen: A new candidate gene for hypospadias
    Nicolás Fernández, Jaime Pérez, Ignacio Zarante
    Urologia Colombiana, 2015
  • Is hypospadias a spectrum of different diseases? MAMLD1 gen: A new candidate gene for hypospadias
    Nicolás Fernández, Jaime Pérez, Ignacio Zarante
    Urologia Colombiana, 2015
  • Transient evoked oto-acoustic emission screening in newborns in Bogotá, Colombia: A retrospective study
    Jorge A. Rojas, Jaime E. Bernal, Mary A. García, Ignacio Zarante, Natalia Ramírez, Constanza Bernal, Nancy Gelvez, Marta L. Tamayo
    International Journal of Pediatric Otorhinolaryngology, 2014
  • Ultrasound detection of congenital anomalies in 76,155 births in the cities of Bogotá and Cali, 2011-2012
    Mary A. García, Luisa Imbachi, Paula M. Hurtado, Gloria Milena Gracia, Ignacio Zarante
    Biomedica, 2014
  • Congenital malformations of pediatric surgical interest: Prevalence, risk factors, and prenatal diagnosis between 2005 and 2012 in the capital city of a developing country. Bogotá, Colombia
    Catalina Correa, Christina Mallarino, Rafael Peña, Luis Carlos Rincón, Gloria Gracia, Ignacio Zarante
    Journal of Pediatric Surgery, 2014
  • Association between maternal prenatal vitamin use and congenital abnormalities of the genitourinary tract in a developing country
    Nicolás Fernández, Juanita Henao-Mejía, Pedro Monterrey, Jaime Pérez, Ignacio Zarante
    Journal of Pediatric Urology, 2012
  • Achalasia familiar: Report of a family with an autosomal dominant pattern of inherence
    G. Gordillo-González, Y. P. Guatibonza, I. Zarante, P. Roa, L. A. Jacome, A. Hani
    Diseases of the Esophagus, 2011
  • Neural tube defects and folic acid: Pathogenesis, metabolism and embryological development. A literature review
    Fernando Suárez-Obando, Adriana Ordóñez-Vásquez, Ignacio Zarante
    Revista Colombiana De Obstetricia Y Ginecologia, 2010
  • Frequencies of congenital malformations: assessment and prognosis of 52,744 births in three cities of Colombia
    Ignacio Zarante, Liliana Franco, Catalina López, Nicolás Fernández
    Biomedica, 2010
  • Epidemiology risk factors for microtia in Colombia
    Juan Camilo García-Reyes, Mario Andrés Caro, Pablo Vega, Juan Camilo Ospina, Ana María Zarante, e Ignacio Zarante
    Acta Otorrinolaringologica Espanola, 2009
  • Impact and risk factors of craniofacial malformations in a Colombian population
    Ignacio Zarante, María Andrea López, Andrés Caro, Juan Camilo García-Reyes, Juan Camilo Ospina
    International Journal of Pediatric Otorhinolaryngology, 2009
  • In vitro studies of DNA Recovered from incinerated teeth
    Forensic Genetics Research Progress, 2009
  • Clusters of sirenomelia in South America
    Iêda M. Orioli, Pierpaolo Mastroiacovo, Jorge S. López‐Camelo, Wilmar Saldarriaga, Carolina Isaza, Horacio Aiello, Ignacio Zarante, Eduardo E. Castilla
    Birth Defects Research Part A Clinical and Molecular Teratology, 2009
  • Congenital malformations and anomalies: Impact and future
    Jaime Bernal, Ignacio Zarante
    Biomedica, 2009
  • Genetic diseases in pediatric patients hospitalised in the town of Ubaté, Colombia
    Paola Páez, Fernando Suárez-Obando, Ignacio Zarante
    Revista De Salud Publica, 2008
  • Prevalence of congenital heart disease in 44,985 newborns in Colombia
    Archivos De Cardiologia De Mexico, 2006
  • Congenital urological anomalies: Epidemiological description and associated risk factors in Colombia 2001-2004
    Archivos Espanoles De Urologia, 2006
  • Development of endocrinological systemic diseases in the adult, the fetal programming hypothesis
    Fernando Suárez Obando, Ignacio Zarante Montoya, Camila Céspedes Salazar
    Medicina Clinica, 2005
  • Chromosomal localization of the KMP-11 genes in the KP1(+) and KP1(-) strains of Trypanosoma rangeli
    Claudia Urueña, Paola Santander, Hugo Díez, Marleny Montilla, Ignacio Zarante, María Del Carmen Thomas, Manuel Carlos López, Concepción Puerta
    Biomedica Revista Del Instituto Nacional De Salud, 2004
  • Allelic frequency of six STR loci in five Colombian cities
    R Duran, A Zarante, ML Acevedo, MR Villegas, J Salazar, BY Bocanegra, J Bernal
    Journal of Forensic Sciences, 2003
  • Variability of 6 Colombian strains of Trypanosoma cruzi with restriction fragment length polymorphisms (RFLP) and random amplification of polymorphic DNA (RAPD)
    Pilar Rodríguez, Marcela Escalante, Hugo Díez, Claudia Cuervo, Marleny Montilla, Nicholls Rubén Santiago, Ignacio Zarante, Concepción Puerta
    Biomedica Revista Del Instituto Nacional De Salud, 2002
  • Isoenzymatic characterization of Colombian strains of Trypanosoma cruzi.
    P Rodríguez, M Montilla, S Nicholls, I Zarante, C Puerta
    Memorias do Instituto Oswaldo Cruz, 1998
  • Dust mites at high altitude in a tropical climate
    Mario Sánchez-Medina, Ignacio Zarante
    Journal of Allergy and Clinical Immunology, 1996
  • HLA antigens (A,B,C and D) among two groups of Guahiboan speaking Indians in Colombia. "Results of expedicion humana"
    J. E. Bernal, C. Duran, I. Briceno, I. Zarante, A. Hernandez, C. P. Zambrano, S. S. Papiha
    International Journal of Anthropology, 1995

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
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