Harry Pachajoa

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

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

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Julián Nevado, Sixto García‐Miñáur, María Palomares‐Bralo et al. · Frontiers in Genetics · 2022 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>MYT1</i> role in the microtia‐craniofacial microsomia spectrum

Daniela V. Luquetti, Carrie L. Heike, Ignacio Zarante et al. · Molecular Genetics & Genomic Medicine · 2020 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

Daniel Quiat, Andrew T. Timberlake, Justin J. Curran et al. · Genetics in Medicine · 2022 · 21 citations · Full text

Dentistry, Genetics, Molecular Genetics +15