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, et al. 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, et al. 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, et al. 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.
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, et al. 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.
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, et al. 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, et al. 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, et al. 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.
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, et al. Birth Defects Research Part A Clinical and Molecular Teratology, 2009
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