Pablo Lapunzina
Hospital Universitario La Paz(ES)Camilo José Cela University(ES)Instituto de Investigación de Enfermedades Raras(ES)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation
Most-Cited Works
- → Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement(2018)584 cited
- → Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment(2014)380 cited
- → 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(2019)367 cited
- → Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis(2005)344 cited
- → The Human Phenotype Ontology in 2024: phenotypes around the world(2023)336 cited
- → Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals(2009)