Pablo Lapunzina

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

Franck Court, Chiharu Tayama, Valeria Romanelli et al. · Genome Research · 2014 · 383 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

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

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

Elena Castro, Nuria Romero-Laorden, Ángela del Pozo et al. · Journal of Clinical Oncology · 2019 · 372 citations · Full text

Medicine, Oncology, Urology +16

Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

Ningwu Huang, Amit V. Pandey, Vishal Agrawal et al. · The American Journal of Human Genetics · 2005 · 348 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers et al. · European Journal of Medical Genetics · 2009 · 292 citations

Life Sciences, Genetics, Molecular Genetics +16