Pablo Lapunzina

49PUBLICATIONS
361CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)GenomicsGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsMedical bacteriology
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Publications (49)

|Apr 14, 2026
Enhancing Type 1 Diabetes Polygenic Risk Prediction Through Neural Networks and Entropy-Derived Insights.

Antonio Nadal-Martínez, Guillermo Pérez-Solero, Sandra Ferreiro López

|Feb 27, 2026
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Paloma Lapunzina-Soler, Amir Shabaka, Ramón Peces

|Jan 23, 2026
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.

Jair Tenorio-Castano, Marta Feito, Raúl de Lucas

|Jan 16, 2026
International guideline on genetic testing of children with short stature.

Andrew Dauber, Alexander A L Jorge, Ola Nilsson

|Nov 27, 2025
Epilepsy in Wolf-Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature.

Raquel Blanco-Lago, Ignacio Málaga, Jair Antonio Tenorio-Castaño

|Sep 30, 2025
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Elsa Lucas-Castro, Francisca Diaz-González, Silvia Modamio-Høybjor

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Frequent Collaborators

29 joint publications

Jair Tenorio-Castaño

14 joint publications

Julián Nevado

7 joint publications

Natalia Gallego-Zazo

7 joint publications

Pilar Escribano-Subías