Jair Antonio Tenorio Castaño (Jair Tenorio, Jair Tenorio-Castano, Jair Tenorio-Castaño, Jair Antonio Tenorio-Castaño, J Tenorio, Jair A Tenorio Castano, Jair Antonio Tenorio, J-A Tenorio)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 29

Top Topics

Intellectual Disability

Autism Spectrum Disorder

Polycyclic Aromatic Hydrocarbons

Pulmonary Arterial Hypertension

Top Venues

Clinical genetics

American journal of medical genetics. Part A

American journal of medical genetics. Part C, Seminars in medical genetics

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

Publications

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)
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)
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)
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)
Ramón Peces, Carlos Peces, Laura Espinosa, Rocío Mena, Carolina Blanco, Jair Antonio Tenorio Castaño, Pablo Lapunzina, Julián Nevado
A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1 . 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)
William A Drust, Alessandro Mussa, Andrea Gazzin, Pablo Lapunzina, Jair Antonio Tenorio Castaño, Julian Nevado, Patricia Pascual, Pedro Arias, Alejandro Parra, Kelly D Getz, Jennifer M Kalish
Adult experiences in Beckwith-Wiedemann syndrome. American journal of medical genetics. Part C, Seminars in medical 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)
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 Cruz-Utrilla, Natalia Gallego-Zazo, Jair Antonio Tenorio Castaño, Inmaculada Guillén, Alba Torrent Vernetta, Amparo Moya-Bonora, Carlos Labrandero, María Elvira Garrido-Lestache Rodríguez-Monte, Alejandro Rodríguez-Ogando, María Del Mar Rodríguez Vázquez Del Rey, Juana Espín, Beatriz Plata-Izquierdo, María Álvarez-Fuente, Antonio Moreno-Galdó, Pilar Escribano-Subias, María Jesús Del Cerro Marín
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry. International journal of molecular sciences 23 (18) (2022)
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)
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)
Rafael García Carretero, M Olid-Velilla, D Perez-Torrella, N Torres-Pacho, M-T Darnaude-Ortiz, A-D Bustamate-Zuloeta, Jair Antonio Tenorio Castaño
Predictive modeling of hypophosphatasia based on a case series of adult patients with persistent hypophosphatasemia. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 32 (9) (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)
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)
Jair Antonio Tenorio Castaño, Ignacio Hernández-Gonzalez, Natalia Gallego, Carmen Pérez-Olivares, Nuria Ochoa, Pedro Arias, Elena Granda, Gonzalo Gómez Acebo, Mauro Lago-Docampo, Julian Palomino-Doza, Manuel López Meseguer, María Jesús Del Cerro, Spanish Pah Consortium, Diana Valverde, Pablo Lapunzina, Pilar Escribano-Subías
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension. Genes 11 (10) (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)
Jair Antonio Tenorio Castaño, Pablo Alarcón, Pedro Arias, Irene Dapía, Sixto García-Miñaur, Maria Palomares-Bralo, Jaume Campistol, Salvador Climent, Irene Valenzuela, Sergio Ramos, Antonio Martínez Monseny, Fermina López Grondona, Javier Botet, Mercedes Serrano, Mario Solís, Fernando Santos-Simarro, Sara Álvarez, Gisela Teixidó-Tura, Alberto Fernández Jaén, Gema Gordo, María Belén Bardón Rivera, Julián Nevado, Alicia Hernández, Juan C Cigudosa, Víctor L Ruiz-Pérez, Eduardo F Tizzano, null null, Pablo Lapunzina
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. European journal of human genetics : EJHG 28 (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)