Ignacio Zarante

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 375 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +15

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

Xiao Yu, Natasha Nassar, Pierpaolo Mastroiacovo et al. · European Urology · 2019 · 150 citations · Full text

Public Health, Obstetrics, Pediatrics +16

Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis

Nitin Goel, Joan K. Morris, David Tucker et al. · American Journal of Medical Genetics Part A · 2019 · 129 citations · Full text

Public Health, Maternal Health, Obstetrics +15

Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study

Maria D. Politis, Eva Bermejo, Mark A. Canfield et al. · Annals of Epidemiology · 2020 · 122 citations · Full text

Public Health, Child Health, Pediatrics +7

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Andrew T. Timberlake, Casey Griffin, Carrie L. Heike et al. · Nature Communications · 2021 · 88 citations · Full text

Dentistry, Genetics, Molecular Genetics +16