Pablo Lapunzina (P Lapunzina)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 41

Top Topics

Polycyclic Aromatic Hydrocarbons

Intellectual Disability

Pulmonary Arterial Hypertension

Mitochondrial Dna

Top Venues

Clinical genetics

Communications biology

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Alejandro Parra, Jair Tenorio-Castano, Julián Nevado, Mario Cazalla, Lucía Miranda-Alcaraz, Natalia Gallego-Zazo, Cristina Silván, Pedro Arias, Jesús Pozo-Román, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Ignacio Arroyo, Vanesa Lotersztein, Viviana Cosentino, Antonio González-Meneses, Enrique Galán, Jordi Rosell, Feliciano Ramos, null null, Pablo Lapunzina
Identification of copy-number variants in patients with overgrowth disorders. Clinical genetics (2024)
Luis Alberto Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón, Tonu Esko, Miguel López de Heredia, Inés Quintela, Raquel Cruz, Pablo Lapunzina, Ángel Carracedo, null null, Juan Ramon González
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Communications biology 7 (1) (2024)
Luis Alberto Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón, Tonu Esko, Miguel López de Heredia, Inés Quintela, Raquel Cruz, Pablo Lapunzina, Ángel Carracedo, null null, Juan Ramon González
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Communications biology 7 (1) (2024)
Alex F Nisbet, Aravind Viswanathan, Andrew M George, Pedro Arias, Steven D Klein, Julián Nevado, Alejandro Parra, Patricia Pascual, Dominic J Romeo, Jair Antonio Tenorio Castaño, Jesse A Taylor, Elaine H Zackai, Pablo Lapunzina, Jennifer M Kalish
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review. American journal of medical genetics. Part A (2024)
Samuel Sarmiento Doncel, Ronald Guillermo Peláez Sánchez, Pablo Lapunzina, Fernando F Corrales-Medina, Gina Alejandra Díaz Mosquera, Saturnino Haya Guaita, Javier Mauricio Cortes, Mario Cazalla, Natalia Gallego-Zazo, Felipe Querol-Giner, Jair Antonio Tenorio Castaño, Jose Antonio Lopez-Guerrero
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. Life (Basel, Switzerland) 14 (8) (2024)
Luis Alberto Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón, Tonu Esko, Miguel López de Heredia, Inés Quintela, Raquel Cruz, Pablo Lapunzina, Ángel Carracedo, null null, Juan Ramon González
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Communications biology 7 (1) (2024)
Natalia Gallego-Zazo, Lucía Miranda-Alcaraz, Alejandro Cruz-Utrilla, María Jesús Del Cerro Marín, María Álvarez-Fuente, María Del Mar Rodríguez Vázquez Del Rey, Inmaculada Guillén Rodríguez, Victor Manuel Becerra-Munoz, Amparo Moya-Bonora, Nuria Ochoa, Alejandro Parra, Patricia Pascual, Mario Cazalla, Cristina Silván, Pedro Arias, Diana Valverde, Vinicio de Jesús-Pérez, Pablo Lapunzina, Pilar Escribano-Subias, Jair Antonio Tenorio Castaño
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature. Genes 14 (10) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Ana Karen Sandoval-Talamantes, María Ángeles Mori, Fernando Santos-Simarro, Sixto García-Miñaur, Elena Mansilla, Jair Antonio Tenorio, Carolina Peña, Carmen Adan, María Fernández-Elvira, Inmaculada Rueda, Pablo Lapunzina, Julián Nevado
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. Genes 14 (4) (2023)
Cristina Bel-Fenellós, Chantal Biencinto-López, Belén Sáenz-Rico, Adolfo Hernández, Ana Karen Sandoval-Talamantes, Jair Antonio Tenorio Castaño, Pablo Lapunzina, Julián Nevado
Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships. Genes 14 (8) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Jair Tenorio-Castano, Ángela Sánchez-Algaba Gómez, Mónica Coronado, Pilar Rodríguez-Martín, Alejandro Parra, Patricia Pascual, Mario Cazalla, Natalia Gallego, Pedro Arias, Aixa V Morales, Julián Nevado, Pablo Lapunzina
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency. Clinical genetics (2023)
Patricia Pascual, Jair Antonio Tenorio Castaño, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, Maria Palomares-Bralo, Emi Rikeros, Feliciano J Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D'Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The Sogri Consortium, Julián Nevado, Pablo Lapunzina
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review. Genes 14 (9) (2023)
Ana Karen Sandoval-Talamantes, Jair Antonio Tenorio Castaño, Fernando Santos-Simarro, Carmen Adán, María Fernández-Elvira, Laura García-Fernández, Yolanda Muñoz, Pablo Lapunzina, Julián Nevado
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. Genes 14 (11) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Alejandro Parra, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Esteban A San-Martín, Cristina Silván, Fernando Santos-Simarro, null null, Julián Nevado, Jair Tenorio-Castano, Pablo Lapunzina
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder. Clinical genetics (2023)
Michael A Gargano, Nicolas A Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer L Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noemi Dahan-Oliel, Jon Robert Davids, Maud De Dieuleveult, Vinicius de Souza, Bert B A de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J M Dingemans, Bruno Donadille, Michael Henri Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberley C Gilmour, Jessica L Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Pazmandi, Benjamin M Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Řehořová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O B Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike A A Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martínez-González, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Zelinová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, Michael C Neale, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy T Peters, Timothy Putman, Christina K Rapp, Ana Rath, Justin T Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah H Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair Antonio Tenorio Castaño, Pavel Tesner, Rhys Huw Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ronald J Wapner, James Simon Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot Julia Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher John Mungall, Sebastian Koehler, Melissa A Haendel, Peter Nick Robinson
The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic acids research (2023)
Ana Karen Sandoval-Talamantes, María Ángeles Mori, Fernando Santos-Simarro, Sixto García-Miñaur, Elena Mansilla, Jair Antonio Tenorio, Carolina Peña, Carmen Adan, María Fernández-Elvira, Inmaculada Rueda, Pablo Lapunzina, Julián Nevado
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. Genes 14 (4) (2023)
Ana Karen Sandoval-Talamantes, María Ángeles Mori, Fernando Santos-Simarro, Sixto García-Miñaur, Elena Mansilla, Jair Antonio Tenorio, Carolina Peña, Carmen Adan, María Fernández-Elvira, Inmaculada Rueda, Pablo Lapunzina, Julián Nevado
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. Genes 14 (4) (2023)
Ana Karen Sandoval-Talamantes, María Ángeles Mori, Fernando Santos-Simarro, Sixto García-Miñaur, Elena Mansilla, Jair Antonio Tenorio, Carolina Peña, Carmen Adan, María Fernández-Elvira, Inmaculada Rueda, Pablo Lapunzina, Julián Nevado
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. Genes 14 (4) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Bernt Popp, Thierry Bienvenu, Irina Giurgea, Julia Metreau, Cornelia Kraus, André Reis, Jan Fischer, María Palomares Bralo, Jair Antonio Tenorio Castaño, Pablo Lapunzina, Berta Almoguera, Fermina Lopez-Grondona, Heinrich Sticht, Christiane Zweier
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. Clinical genetics 102 (6) (2022)
Natalia Gallego-Zazo, Alejandro Cruz-Utrilla, María Jesús Del Cerro, Nuria Ochoa, Julián Nevado Blanco, Pedro Arias, Pablo Lapunzina, Pilar Escribano-Subias, Jair Antonio Tenorio Castaño
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature. Genes 13 (5) (2022)
Ramón Peces, Carlos Peces, Rocío Mena, Emilio Cuesta, Fe Amalia García-Santiago, Marta Ossorio, Sara Afonso, Pablo Lapunzina, Julián Nevado
Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes. Genes 13 (3) (2022)
Silvia Caino, Marisa Angelica Cubilla, Romina Alba, María Gabriela Obregón, Virginia Fano, Abel Gómez, Lorena Zecchini, Pablo Lapunzina, Miriam Aza-Carmona, Karen Elise Heath, Carla Gabriela Asteggiano
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients. Genes 13 (11) (2022)
Leila Cabral de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, Pedro Arias, Natalia Gallego, Valeria Romanelli, Piranit Nik Kantaputra, Leonardo Lima, Juan Clinton Llerena Júnior, Claudia Arberas, Encarna Guillén-Navarro, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants. Cancers 14 (15) (2022)
Luis Francisco González Álvarez, Jair Antonio Tenorio Castaño, Fernando A Poletta, Fernando Santos-Simarro, Pedro Arias, Natalia Gallego, Iêda Maria Orioli, Stefan Mundlos, Eduardo E Castilla, Víctor Martínez-Glez, María Luisa Martínez-Frías, Víctor L Ruiz-Pérez, Julián Nevado, Pablo Lapunzina
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. American journal of medical genetics. Part A (2022)
Ignacio Arroyo Carrera, Miguel Fernández-Burriel, Pablo Lapunzina, Jair Antonio Tenorio Castaño, Verónica Deyanira García Navas, Elena Márquez Isidro
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum. Clinical genetics 99 (6) (2021)
Ignacio Hernandez-Gonzalez, Jair Antonio Tenorio Castaño, Nuria Ochoa, Natalia Gallego-Zazo, Carmen Pérez-Olivares, Mauro Lago-Docampo, Julian Palomino Doza, Diana Valverde, Pablo Lapunzina, Pilar Escribano-Subias
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease. Cells 10 (6) (2021)
Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Victor Martínez-González, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Maria Irene Valenzuela Palafoll, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J Kaiser, Luis Alberto Pérez-Jurado, Angel Carracedo, null The ENoD-Ciberer Consortium, null The Side Consortium, Pablo Lapunzina
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes 12 (5) (2021)
Natalia Gallego, Alejandro Cruz-Utrilla, Inmaculada Guillén, Amparo Moya Bonora, Nuria Ochoa, Pedro Arias, Pablo Lapunzina, Pilar Escribano-Subias, Julián Nevado, Jair Tenorio-Castaño
Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension. Cells 10 (11) (2021)
Marta Perez Nuñez, Sergio Alonso Charterina, Carmen Pérez-Olivares, Yolanda Revilla Ostolaza, Rafael Morales Ruiz, Ana Belén Enguita Valls, Jair Antonio Tenorio Castaño, Natalia Gallego Zazo, Alicia De Pablo Gafas, Pablo Lapunzina, Adriana Rodriguez Chaverri, Pilar Escribano-Subias
Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties. Diagnostics (Basel, Switzerland) 11 (1) (2021)
Pablo Lapunzina, Jair Antonio Tenorio Castaño, Julián Nevado, Ángel Campos Barros, Harry Pachajoa, Víctor L Ruiz-Pérez, Eduardo E Castilla
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders. American journal of medical genetics. Part C, Seminars in medical genetics 187 (2) (2021)
Victor Martínez-González, Jair Tenorio, Julián Nevado, Gema Gordo, Lara Rodríguez-Laguna, Marta Feito, Raúl de Lucas, Luis A Pérez-Jurado, Víctor L Ruiz Pérez, Antonio Torrelo, Nancy B Spinner, Rudolf Happle, Leslie G Biesecker, Pablo Lapunzina
A six-attribute classification of genetic mosaicism. Genetics in medicine : official journal of the American College of Medical Genetics 22 (11) (2020)
Mauro Lago-Docampo, Jair Antonio Tenorio Castaño, Ignacio Hernandez-Gonzalez, Carmen Pérez-Olivares, Pilar Escribano-Subias, Guillermo Pousada, Adolfo Baloira, Miguel Arenas, Pablo Lapunzina, Diana Valverde
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients. Scientific reports 10 (1) (2020)
Jair Antonio Tenorio Castaño, Julián Nevado, Antonio González-Meneses, Pedro Arias, Irene Dapía, Carlos A Venegas-Vega, María Calvente, Alicia Hernández, Leandro Landera, Sergio Ramos, null null, Juan Cruz Cigudosa, Luis A Pérez-Jurado, Pablo Lapunzina
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. Clinical genetics 97 (3) (2020)
Lucía Daniela Espeche, Andrea Paula Solari, María Ángeles Mori, Rubén Martín Arenas, Maria Palomares-Bralo, Myriam Pérez, Cinthia Martínez, Vanesa Lotersztein, Mabel Segovia, Romina Armando, Liliana Beatriz Dain, Julián Nevado, Pablo Lapunzina, Sandra Rozental
Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system. Molecular biology reports 47 (9) (2020)
Ramón Peces, Rocio Mena, Carlos Peces, Emilio Cuesta, Rafael Selgas, Pilar Barruz, Pablo Lapunzina, Julián Nevado
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression. Clinical genetics 97 (6) (2020)
Jair Antonio Tenorio Castaño, Pablo Alarcón, Pedro Arias, Feliciano J Ramos, Jaume Campistol, Salvador Climent, Sixto García-Miñaur, Irene Dapía, Alicia Hernández, Julián Nevado, Mario Solís, Víctor L Ruiz-Pérez, null null, Pablo Lapunzina
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations. Clinical genetics 95 (6) (2019)
Gema Gordo, Lara Rodriguez-Laguna, Noelia Agra, Pilar Mendez, Marta Feito, Pablo Lapunzina, Juan C Lopez-Gutierrez, Victor Martínez-González
Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation. Clinical genetics 95 (4) (2019)
G Gordo, Jair Antonio Tenorio Castaño, P Arias, F Santos-Simarro, S García-Miñaur, J C Moreno, J Nevado, E Vallespin, L Rodriguez-Laguna, R de Mena, I Dapia, Maria Palomares-Bralo, Á Del Pozo, K Ibañez, J C Silla, E Barroso, V L Ruiz-Pérez, Victor Martínez-González, Pablo Lapunzina
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clinical genetics 93 (4) (2018)