Alejandro Martin-Trujillo

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

Marta Sánchez-Delgado, Alejandro Martin-Trujillo, Chiharu Tayama et al. · PLoS Genetics · 2015 · 111 citations · Full text

Epigenetic Change, Genetics, Biparental Hydatidiform Moles +19

Identification of rare de novo epigenetic variations in congenital disorders

Mafalda Barbosa, Ricky S. Joshi, Paras Garg et al. · Nature Communications · 2018 · 99 citations · Full text

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

Anne Rochtus, Alejandro Martin-Trujillo, Benedetta Izzi et al. · Clinical Epigenetics · 2016 · 67 citations · Full text

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

Paras Garg, Bharati Jadhav, Oscar L. Rodriguez et al. · The American Journal of Human Genetics · 2020 · 61 citations · Full text

Genome-wide Association Study, Allelic Variant, Rare Epigenetic Variation +8

Increased frequency of repeat expansion mutations across different populations

Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello et al. · Nature Medicine · 2024 · 53 citations · Full text

Allelic Variant, Natural Sciences, Genetics +7