Lapunzina, Pablo

The Human Phenotype Ontology in 2024: phenotypes around the world

Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., et al. (2024) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 410

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Vliet, G. V., Sack, J., Flück, C. E., et al. (2005) · The American Journal of Human Genetics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 336

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

Bijlsma, E. K., Gijsbers, A. C. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., Fransen van de Putte, D. E., Anderlid, B.-M., Lundin, J., Lapunzina, P., Pérez Jurado, L. A., Delle Chiaie, B., et al. (2009) · European Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 282

Risk of tumorigenesis in overgrowth syndromes: a comprehensive review

Lapunzina, P. (2005) · American Journal of Medical Genetics Part C Seminars in Medical Genetics

Genetic Syndromes and ImprintingSarcoma Diagnosis and Treatment

Cited by 276

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Doyard, M., Bacrot, S., Huber, C., Di Rocco, M., Goldenberg, A., Aglan, M. S., Brunelle, P., Temtamy, S., Michot, C., Otaify, G. A., et al. (2018) · Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 75

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Caparrós-Martín, J. A., De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G. A., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J.-L., et al. (2015) · Human Molecular Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 57

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: Phenotype comparison in two related syndromes

Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., et al. (2020) · Journal of Intellectual Disability Research

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 33