Gloria Liliana Porras-Hurtado

Haploinsufficiency of SF3B2 causes craniofacial microsomia

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

<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 · 27 citations · Full text

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

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

Sandra Tapiero, Johanna Acosta, Gloria Liliana Porras-Hurtado et al. · The Application of Clinical Genetics · 2018 · 20 citations · Full text

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Maha S. Zaki, Andrea Accogli, Ghayda Mirzaa et al. · European Journal of Human Genetics · 2021 · 19 citations · Full text