Ignacio Zarante

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 311 citations · Full text

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

Xiao Yu, Natasha Nassar, Pierpaolo Mastroiacovo et al. · European Urology · 2019 · 137 citations · Full text

Clinical Epidemiology, International Health, Gynecology +7

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 · 124 citations · Full text

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 · 111 citations · Full text

Hernia Surgery, Congenital Diaphragmatic Hernia, Multicountry Study +2

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Andrew T. Timberlake, Casey Griffin, Carrie L. Heike et al. · Nature Communications · 2021 · 86 citations · Full text