Pablo Lapunzina

14.1k total citations
227 papers, 5.1k citations indexed

About

Pablo Lapunzina is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Pablo Lapunzina has authored 227 papers receiving a total of 5.1k indexed citations (citations by other indexed papers that have themselves been cited), including 135 papers in Genetics, 114 papers in Molecular Biology and 42 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Pablo Lapunzina's work include Genomic variations and chromosomal abnormalities (46 papers), Genetic Syndromes and Imprinting (44 papers) and Prenatal Screening and Diagnostics (34 papers). Pablo Lapunzina is often cited by papers focused on Genomic variations and chromosomal abnormalities (46 papers), Genetic Syndromes and Imprinting (44 papers) and Prenatal Screening and Diagnostics (34 papers). Pablo Lapunzina collaborates with scholars based in Spain, United States and Argentina. Pablo Lapunzina's co-authors include Víctor Martínez‐Glez, Víctor L. Ruiz‐Pérez, Jair Tenorio, Julián Nevado, Eulalia Valencia, Samia A. Temtamy, Mona Aglan, José A. Caparrós‐Martín, David Monk and Alicia Delicado and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Nucleic Acids Research and Circulation.

In The Last Decade

Pablo Lapunzina

209 papers receiving 5.0k citations

Peers

Countries citing papers authored by Pablo Lapunzina

Since Specialization

Citations

This map shows the geographic impact of Pablo Lapunzina's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Pablo Lapunzina with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Pablo Lapunzina more than expected).

Fields of papers citing papers by Pablo Lapunzina

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Pablo Lapunzina. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Pablo Lapunzina. The network helps show where Pablo Lapunzina may publish in the future.

Co-authorship network of co-authors of Pablo Lapunzina

This figure shows the co-authorship network connecting the top 25 collaborators of Pablo Lapunzina. A scholar is included among the top collaborators of Pablo Lapunzina based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Pablo Lapunzina. Pablo Lapunzina is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome 2025 ·American Journal of Medical Genetics Part A ·(unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Carlos Rodríguez‐Antolín, (unknown), (unknown), Jair Tenorio, Pablo Lapunzina	1
2	Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf–Hirschhorn Syndrome 2025 ·Genes ·Julián Nevado, Raquel Blanco-Lago, (unknown), Adolfo Hernández, (unknown), (unknown), Ignacio Málaga, Harry Pachajoa, (unknown), Fe Amalia García‐Santiago, (unknown), Jair Tenorio, (unknown), Isabel Vallcorba, Pablo Lapunzina	0
3	N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder 2025 ·European Journal of Human Genetics ·(unknown), Nurit Assia Batzir, (unknown), (unknown), Julián Nevado, Jair Tenorio, Pablo Lapunzina, (unknown), (unknown), (unknown), Sharon Aharoni, (unknown), Lina Basel‐Salmon, Naama Orenstein, Yakov Fellig, Shay Ben‐Shachar, Dina Marek‐Yagel, Víctor L. Ruiz‐Pérez	0
4	Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a ( MYBBP1A ) gene 2024 ·Clinical Genetics ·Jair Tenorio, (unknown), (unknown), (unknown), Rita María Regojo, (unknown), (unknown), Jane Juusola, Beatriz Herrero, (unknown), (unknown), (unknown), (unknown), (unknown), R. Rodríguez, E. Antolín, Julián Nevado, Víctor L. Ruiz‐Pérez, Pablo Lapunzina	0
5	Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review 2024 ·American Journal of Medical Genetics Part A ·(unknown), (unknown), (unknown), Pedro Arias, Steven D. Klein, Julián Nevado, (unknown), (unknown), (unknown), Jair Tenorio, Jesse A. Taylor, Elaine H. Zackai, Pablo Lapunzina, Jennifer M. Kalish	4
6	2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report 2024 ·BMC Pediatrics ·(unknown), (unknown), Julián Nevado, Pablo Lapunzina, Harry Pachajoa	1
7	A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ 2024 ·Thyroid ·(unknown), (unknown), (unknown), (unknown), Rogelio Simón, Daniel Natera‐de Benito, (unknown), Jair Tenorio, Fe Amalia García‐Santiago, (unknown), (unknown), Pablo Lapunzina, Juan Darío Ortigoza‐Escobar, Pilar Santisteban, J.C. Moreno	0
8	Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort 2024 ·Life ·(unknown), (unknown), Pablo Lapunzina, Fernando F. Corrales‐Medina, (unknown), Santiago Bonanad, (unknown), (unknown), (unknown), (unknown), Jair Tenorio, (unknown)	0
9	CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative 2023 ·Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) ·(unknown), (unknown), (unknown), Beatriz Morte, Miguel López de Heredia, (unknown), Pablo Lapunzina, Juan A. Bueren	7
10	Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships 2023 ·Genes ·(unknown), (unknown), (unknown), Adolfo Hernández, (unknown), Jair Tenorio, Pablo Lapunzina, Julián Nevado	3
11	Haemophilia B, severe childhood obesity and other extra‐haematological features associated with similar 4Mb‐deletions on Xq27: Clinical findings, molecular insights and literature update 2023 ·Haemophilia ·Claudia Pamela Radic, (unknown), (unknown), (unknown), Julián Nevado, Pablo Lapunzina, Gabriela Sciuccati, Daniela Neme, Liliana Carmen Rossetti, Mariana Bonduel, Carlos Daniel De Brasi	1
12	TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum 2021 ·Clinical Genetics ·(unknown), Miguel Fernández‐Burriel, Pablo Lapunzina, Jair Tenorio, (unknown), (unknown)	9
13	Risks and benefits of concurrent treatment with antiplatelet and anticoagulation therapy in post‐op bioprosthetic aortic valve replacement patients 2021 ·Journal of Cardiac Surgery ·(unknown), (unknown), Kyoko Yamada, (unknown), Christine T. Fong, Aida Shirazi, Pablo Lapunzina, (unknown)	2
14	Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study 2021 ·Clinical Genetics ·Víctor Martínez‐Glez, Lara Rodríguez‐Laguna, Vanesa Viana‐Huete, (unknown), Begoña Hurtado, Pablo Lapunzina, Paloma Triana, Juan Carlos López‐Gutiérrez	9
15	Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression 2020 ·Clinical Genetics ·R. Peces, Rocío Mena, (unknown), Emilio Cuesta, Rafael Selgas, (unknown), Pablo Lapunzina, Julián Nevado	3
16	Síndrome de Wolf-Hirschhorn. Descripción de cinco casos caracterizados por microarrays de polimorfismos de nucleótido único 2019 ·Archivos Argentinos de Pediatria ·(unknown), (unknown), (unknown), Pablo Lapunzina, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown)	2
17	Constitutional mosaicism in RASA1 ‐related capillary malformation‐arteriovenous malformation 2019 ·Clinical Genetics ·Gema Gordo, Lara Rodríguez‐Laguna, Noelia Agrá, (unknown), Marta Feito Rodríguez, Pablo Lapunzina, Juan Carlos López‐Gutiérrez, Víctor Martínez‐Glez	9
18	mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review 2017 ·Clinical Genetics ·Gema Gordo, Jair Tenorio, Pedro Arias, Fernando Santos‐Simarro, Sixto García‐Miñáur, J.C. Moreno, Julián Nevado, Elena Vallespín, Lara Rodríguez‐Laguna, (unknown), Irene Dapía, María Palomares‐Bralo, Ángela del Pozo, Kristina Ibáñez, Juan Carlos Silla-Castro, Eva Barroso, Víctor L. Ruiz‐Pérez, Víctor Martínez‐Glez, Pablo Lapunzina	29
19	Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects 2014 ·American Journal of Medical Genetics Part A ·Eulalia Valencia, José A. Caparrós‐Martín, Ma Salomé Sirerol-Piquer, José Manuel García‐Verdugo, Víctor Martínez‐Glez, Pablo Lapunzina, Samia A. Temtamy, Mona Aglan, Allan M. Lund, Peter G. J. Nikkels, Víctor L. Ruiz‐Pérez, Elsebet Østergaard	24
20	Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations 2013 ·American Journal of Medical Genetics Part A ·José A. Caparrós‐Martín, Eulalia Valencia, Verónica Pulido, Víctor Martínez‐Glez, (unknown), Khalda Amr, Chantal Farra, Pablo Lapunzina, Víctor L. Ruiz‐Pérez, Samia A. Temtamy, Mona Aglan	46

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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