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P. Lapunzina · SciRah

Researcher profile · Semantic Scholar

P. Lapunzina

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P. Lapunzina — researcher profile on SciRah

h-index: 57
Works: 328
Citations: 12K

Most-cited papers

The Human Phenotype Ontology in 2024: phenotypes around the world
Michael A. Gargano, N. Matentzoglu, Ben Coleman, Eunice B Addo-Lartey +172 more
2023Nucleic Acids Research399 citations Open access
Semantic Scholar
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
E. Pairo-Castineira, K. Rawlik, A. Bretherick, Ting Qi +55 more
2023Nature191 citations Open access
Semantic Scholar
A second update on mapping the human genetic architecture of COVID-19
Masahiro Shea J. Mattia Christine Benjamin M. Mark Andrea G Kanai Andrews Cordioli Stevens Neale Daly Ganna Pa, Masahiro Shea J. Mattia Christine Benjamin M. Mark Andrea Kanai Andrews Cordioli Stevens Neale Daly Ganna, Masahiro Kanai, S. Andrews +496 more
2022Nature108 citations Open access
Semantic Scholar
A Six-attribute Classification of Genetic Mosaicism
V. Martínez-Glez, J. Tenorio, J. Nevado, G. Gordo +10 more
2020Genetics in Medicine80 citations Open access
Semantic Scholar
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
M. Baldassarri, Nicola Picchiotti, F. Fava, C. Fallerini +145 more
2021EBioMedicine53 citations Open access
Semantic Scholar
Novel genes and sex differences in COVID-19 severity
R. Cruz, Silvia Diz-de Almeida, Miguel López de Heredia, I. Quintela +161 more
2022Human Molecular Genetics52 citations Open access
Semantic Scholar
CSVS, a crowdsourcing database of the Spanish population genetic variability
M. Peña-Chilet, G. Roldán, J. Pérez-Florido, F. Ortuño +56 more
2020Nucleic Acids Res.51 citations Open access
Semantic Scholar
Prenatal phenotyping: a community effort to enhance the Human Phenotype Ontology
F. Dhombres, P. Morgan, B. Chaudhari, I. Filges +32 more
2022American Journal of Medical Genetics. Part C, Seminars in Medical Genetics50 citations Open access
Semantic Scholar
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Adrián Palencia-Campos, P. Aoto, E. M. Machal, A. Rivera-Barahona +38 more
2020American Journal of Human Genetics49 citations Open access
Semantic Scholar
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
T. Eggermann, Elzem Yapici, J. Bliek, A. Pereda +15 more
2022Clinical Epigenetics46 citations Open access
Semantic Scholar
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
J. Nevado, S. García-Miñaúr, M. Palomares-Bralo, E. Vallespín +33 more
2022Frontiers in Genetics45 citations Open access
Semantic Scholar
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Deborah Mackay, J. Bliek, M. Kagami, J. Tenorio-Castaño +25 more
2022Clinical Epigenetics31 citations Open access
Semantic Scholar
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
S. Choufani, Vanda McNiven, C. Cytrynbaum, M. Jangjoo +58 more
2022American Journal of Human Genetics30 citations Open access
Semantic Scholar
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
J. Tenorio-Castaño, Beatriz Morte, J. Nevado, V. Martínez-Glez +27 more
2021Genes28 citations Open access
Semantic Scholar
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
P. Mulder, I. V. van Balkom, A. Landlust, M. Priolo +54 more
2020Journal of Intellectual Disability Research27 citations Open access
Semantic Scholar
Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions
Bin-Sheng Gong, Dan Li, Rebecca Kusko, N. Novoradovskaya +147 more
2021Genome Biology26 citations Open access
Semantic Scholar
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
M. Lago-Docampo, J. Tenorio, I. Hernández-González, C. Pérez-Olivares +6 more
2020Scientific Reports23 citations Open access
Semantic Scholar
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
D. J. Mackay, G. Gazdagh, David H. Monk, F. Brioude +28 more
2024Clinical Epigenetics22 citations Open access
Semantic Scholar
HLA‐A*11:01 and HLA‐C*04:01 are associated with severe COVID‐19
P. Castro-Santos, A. Rojas-Martínez, J. Riancho, P. Lapunzina +3 more
2023HLA22 citations
Semantic Scholar
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease
I. Hernández-González, J. Tenorio-Castaño, N. Ochoa-Parra, N. Gallego +6 more
2021Cells22 citations Open access
Semantic Scholar
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes
E. Gálvez, E. Vallespín, E. Arias-Salgado, Carmen Sanchez-Valdepeñas +21 more
2021HemaSphere20 citations Open access
Semantic Scholar
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
Laura Pignata, Francesco Cecere, A. Verma, Bruno Hay Mele +20 more
2022Clinical Epigenetics17 citations Open access
Semantic Scholar
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
Alejandro Parra, R. Rabin, J. Pappas, Patricia Pascual +20 more
2023Genes15 citations Open access
Semantic Scholar
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Asier Iturrate, A. Rivera-Barahona, Carmen-Lisset Flores, G. Otaify +15 more
2022American Journal of Human Genetics15 citations Open access
Semantic Scholar
Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
J. Nevado, Cristina Bel-Fenellós, A. K. Sandoval-Talamantes, Adolfo Hernández +11 more
2021Frontiers in Genetics15 citations Open access
Semantic Scholar
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study
V. Martínez-Glez, L. Rodríguez-Laguna, V. Viana-Huete, C. Torrijos +4 more
2021Clinical Genetics15 citations
Semantic Scholar
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension
Shaun Pienkos, N. Gallego, D. Condon, Alejandro Cruz-Utrilla +10 more
2021Frontiers in Medicine15 citations Open access
Semantic Scholar
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
A. Cospain, A. Rivera-Barahona, E. Dumontet, B. Gener +28 more
2022Genetics in Medicine14 citations Open access
Semantic Scholar
Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension
N. Gallego, Alejandro Cruz-Utrilla, I. Guillén, A. M. Bonora +6 more
2021Cells14 citations Open access
Semantic Scholar
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum
Ignacio Arroyo Carrera, M. Fernández-Burriel, P. Lapunzina, J. Tenorio +2 more
2021Clinical Genetics14 citations
Semantic Scholar
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor
J. Tenorio, J. Nevado, A. Gónzalez-Meneses, P. Arias +9 more
2020Clinical Genetics14 citations
Semantic Scholar
A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: The AVATAR Trial
Francesca Sarno, J. Tenorio, Sofia Perea, Laura Medina +17 more
2024Clinical Cancer Research13 citations Open access
Semantic Scholar
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
J. Luque, Ingrid Mendes, B. Gómez, Beatriz Morte +14 more
2022Clinical Genetics13 citations Open access
Semantic Scholar
Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties
Marta Pérez Núñez, Sergio Alonso Charterina, C. Pérez-Olivares, Yolanda Revilla Ostolaza +8 more
2021Diagnostics13 citations Open access
Semantic Scholar
Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency
J. Tenorio-Castaño, Á. Gómez, M. Coronado, Pilar Rodríguez-Martín +8 more
2023Clinical Genetics12 citations Open access
Semantic Scholar
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
F. Santos-Simarro, Marta Pacio, A. González, E. Mansilla +15 more
2021European Journal of Medical Genetics12 citations
Semantic Scholar
Phenotypic Spectrum and Tumor Risk in Simpson-Golabi-Behmel Syndrome: Case Series and Comprehensive Literature Review
Alex F. Nisbet, Aravind Viswanathan, A. George, P. Arias +10 more
2024American Journal of Medical Genetics. Part A11 citations Open access
Semantic Scholar
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
L. A. Pérez-Jurado, A. Cáceres, L. Balagué-Dobón, T. Esko +6 more
2024Communications Biology11 citations Open access
Semantic Scholar
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature
Natalia Gallego-Zazo, Lucía Miranda-Alcaraz, Alejandro Cruz-Utrilla, M. J. Del Cerro Marín +16 more
2023Genes11 citations Open access
Semantic Scholar
Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
Silvia Caíno, M. Cubilla, R. Alba, M. G. Obregon +7 more
2022Genes11 citations Open access
Semantic Scholar
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
Adrián Palencia-Campos, M. Martínez-Fernández, U. Altunoğlu, Patricia Soto-Bielicka +25 more
2020Human Mutation11 citations Open access
Semantic Scholar
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
Patricia Pascual, J. Tenorio-Castaño, C. Mignot, A. Afenjar +33 more
2023Genes10 citations Open access
Semantic Scholar
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Alejandro Parra, Patricia Pascual, M. Cazalla, P. Arias +7 more
2023Clinical Genetics9 citations Open access
Semantic Scholar
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
L. C. de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, P. Arias +10 more
2022Cancers9 citations Open access
Semantic Scholar
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome
Joan Sabria-Back, Ana Monteagudo-Sánchez, M. Sánchez-Delgado, A. Ferguson-Smith +10 more
2021Journal of Medical Genetics9 citations Open access
Semantic Scholar
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Stacy G. Guzman, S. Ruggiero, S. Ganesan, Colin A. Ellis +33 more
2025American Journal of Human Genetics8 citations Open access
Semantic Scholar
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
U. Altunoğlu, Adrián Palencia-Campos, N. Güneş, G. Turgut +29 more
2024Journal of Medical Genetics8 citations Open access
Semantic Scholar
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
A. K. Sandoval-Talamantes, M. Morí, F. Santos-Simarro, S. García-Miñaúr +8 more
2023Genes8 citations Open access
Semantic Scholar
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
D. Horn, E. Fernández-Núñez, R. Gómez-Carmona, A. Rivera-Barahona +9 more
2021Genetics in Medicine8 citations Open access
Semantic Scholar
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability
Marta Pacio Miguez, F. Santos-Simarro, S. García-Miñaúr, Ramón Velázquez Fragua +10 more
2020American Journal of Medical Genetics. Part A8 citations
Semantic Scholar

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J. Nevado×23
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J. Tenorio-Castaño×17
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