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Pablo Lapunzina
Hospital Universitario La Paz
64H-index
461Paper Count
1.4WCitation Count
Published Papers 132
Publication Date
- Publication Date
- Impact Factor
- Citations
Enhancing Type 1 Diabetes Polygenic Risk Prediction Through Neural Networks and Entropy-Derived Insights
2026-03-30
0
OAAI
Antonio Nadal-Martínez; Guillermo Pérez-Solero; Sandra Ferreiro López; Jorge Blom-Dahl; Eduard Montanya; Marta Alonso-Bernáldez; Moises Shabot; Christian Binsch; Lukasz Szczerbinski; Adam Kretowski; Julián Nevado; Pablo Lapunzina; Robert Wagner; Jair Tenorio-Castano
Epilepsy in Wolf–Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature
2025-11-18
0
OAAI
Raquel Blanco-Lago; Ignacio Málaga; Jair Antonio Tenorio-Castaño; Nelly Álvarez-Álvarez; Pablo Lapunzina; Julián Nevado
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
eBioMedicine
2025-10-14
0
OAAI
Leonardo Chimirri; J. Harry Caufield; Yasemin Bridges; Nicolas Matentzoglu; Michael Gargano; Mario Cazalla; Shihan Chen; Daniel Danis; Alexander J.M. Dingemans; Klara Gehle; Petra Gehle; Adam S.L. Graefe; Weihong Gu; Markus S. Ladewig; Pablo Lapunzina; Julián Nevado; Enock Niyonkuru; Soichi Ogishima; Dominik Seelow; Jair A. Tenorio Castaño; Marek Turnovec; Bert B.A. de Vries; Kai Wang; Kyran Wissink; Zafer Yüksel; Gabriele Zucca; Melissa A. Haendel; Christopher J. Mungall; Justin Reese; Peter N. Robinson
IF10.8
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder
2025-09-29
0
OAAI
Asier Iturrate; Nurit Assia Batzir; Ranit Jaron; David Garcia-Valentin; Julian Nevado; Jair Tenorio-Castano; Pablo Lapunzina; Kamila Lee; Rotem Greenberg; Dvora Sassi; Sharon Aharoni; Alla Kuzminsky; Lina Basel-Salmon; Naama Orenstein; Yakov Fellig; Shay Ben-Shachar; Dina Marek-Yagel; Victor L. Ruiz-Perez
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Clinical Genetics
2025-09-29
0
Elsa Lucas-Castro; Francisca Diaz-González; Silvia Modamio-Høybjor; Manuel Parrón-Pajares; Sonia Pajares; Laura Gort; Julián Nevado; Pablo Lapunzina; Antonio Leiva-Gea; Karen E. Heath
IF2.3
PREAI
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
2025-08-07
0
OAAI
Sanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna Weksberg
Genotype-Phenotype Associations in Phelan-McDermid Syndrome: Insights into Novel Genes Beyond SHANK3
2025-05-13
0
OAAI
Nevado, Julian; Escalada, Blanca; Munoz-GPorrero, Yolanda; Adan, Carmen; Tenorio-Castano, Jair; Lapunzina, Pablo Daniel
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome
CLINICAL GENETICS
2025-05-08
0
Alejandro Parra; Juan A. Jimenez-Estrada; Valeria Vásquez-Amell; Mario Cazalla; Manuel Rodríguez-Canó; Natalia Gallego-Zazo; Lucia Miranda; Mónica Mora-Gómez; Elena Vallespín; Rocío Mena; Luis Fernández; Cristina Silván; Pedro Arias; Marta Dominguez-Jiménez; Encarna Guillén-Navarro; Julián Nevado; Jair Tenorio-Castano; Víctor L. Ruiz-Pérez; Pablo Lapunzina
IF2.3
PREAI
Family well-being in families with children and young people with Wolf-Hirschhorn Syndrome
2025-05-01
0
Bel-Fenellos, Cristina; Biencinto-Lopez, Chantal; Orio-Aparicio, Cristina; da Silva-Mori, Xana; Tenorio-Castano, Jair Antonio; Lapunzina, Pablo; Nevado, Julian
PREAI
Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine
2025-03-04
0
OAAI
Nevado, Julian; Ciceri, Filippo; Bel-Fenellos, Cristina; Tenorio-Castano, Jair A.; Maes, Tamara; Xaus, Jordi; Buesa, Carlos; Lapunzina, Pablo
Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients
BIOMEDICINES
2025-02-21
0
OAAI
Serra-Llovich, Alexandre; Cullell, Natalia; Maronas, Olalla; Jose Herrero, Maria; Cruz, Raquel; Almoguera, Berta; Ayuso, Carmen; Lopez-Rodriguez, Rosario; Dominguez-Garrido, Elena; Ortiz-Lopez, Rocio; Barreda-Sanchez, Maria; Corton, Marta; Dalmau, David; Calbo, Esther; Boix-Palop, Lucia; Dietl, Beatriz; Sangil, Anna; Gil-Rodriguez, Almudena; Guillen-Navarro, Encarna; Mancebo, Esther; Lira-Albarran, Saul; Minguez, Pablo; Paz-Artal, Estela; Olivera, Gladys G.; Recarey-Rama, Sheila; Sendra, Luis; Zucchet, Enrique G.; Lopez de Heredia, Miguel; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Arranz, Maria J.
IF3.9
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype
2024-11-01
0
OAAI
Lucia-Campos, Cristina; Parenti, Ilaria; Latorre-Pellicer, Ana; Gil-Salvador, Marta; Bestetti, Ilaria; Finelli, Palma; Larizza, Lidia; Arnedo, Maria; Ayerza-Casas, Ariadna; Del Rincon, Julia; Trujillano, Laura; Morte, Beatriz; Perez-Jurado, Luis A.; Lapunzina, Pablo; Leitao, Elsa; Beygo, Jasmin; Lich, Christina; Kilpert, Fabian; Kaya, Sabine; Depienne, Christel; Kaiser, Frank J.; Ramos, Feliciano J.; Puisac, Beatriz; Pie, Juan
Genetic testing in pulmonary hypertension in adults and children
EUROPEAN HEART JOURNAL
2024-10-28
0
Escribano, J. Playan; Utrilla, A. Cruz; Ogando, A. Rodriguez; Gallego, N.; Rotes, A. Sabate; Parra, N. Ochoa; Tenorio, J.; Balseiro, M. Lozano; Olivares, C. Perez; Arcelus, E. Rezola; Lapunzina, P.; Izquierdo, B. Plata; Menaca, A. Martinez; Subias, P. Escribano; Marin, M. J. Del Cerro
IF35.6
PREAI
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
2024-08-21
0
OAAI
Doncel, Samuel Sarmiento; Pelaez, Ronald Guillermo; Lapunzina, Pablo; Corrales-Medina, Fernando F.; Mosquera, Gina Alejandra Diaz; Bonanad, Santiago; Cortes, Javier Mauricio; Cazalla, Mario; Gallego, Natalia; Querol-Giner, Felipe; Tenorio, Jair; Guerrero, Jose A. Lopez
IF3.4
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
CLINICAL EPIGENETICS
2024-08-01
1
OAAI
Mackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaityte, Laima; Burnyte, Birute; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Ounap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irene; Eggermann, Thomas; Bliek, Jet; Tumer, Zeynep
IF4.4
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ
THYROID
2024-07-01
0
Villafuerte, Beatriz; Carrasco-Lopez, Carlos; Herranz, Amanda; Garzon, Lucia; Simon, Rogelio; Natera-de-Benito, Daniel; Alikhani, Pouya; Tenorio, Jair; Garcia-Santiago, Fe; Solis, Mario; del-Pozo, Angela; Lapunzina, Pablo; Ortigoza-Escobar, Juan Dario; Santisteban, Pilar; Moreno, Jose C.
IF6.7
PREAI
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
2024-03-26
1
Altunoglu, Umut; Palencia-Campos, Adrian; Gunes, Nilay; Turgut, Gozde Tutku; Nevado, Julian; Lapunzina, Pablo; Valencia, Maria; Iturrate, Asier; Otaify, Ghada; Elhossini, Rasha; Ashour, Adel; K. Amin, Asmaa; Elnahas, Rania F.; Fernandez-Nunez, Elisa; Flores, Carmen-Lisset; Arias, Pedro; Tenorio, Jair; Chamorro Fernandez, Carlos Israel; Guven, Yeliz; Ozsu, Elif; Eklioglu, Beray Selver; Ibarra-Ramirez, Marisol; Diness, Birgitte Rode; Burnyte, Birute; Ajmi, Houda; Yuksel, Zafer; Yildirim, Ruken; Unal, Edip; Abdalla, Ebtesam; Aglan, Mona; Kayserili, Hulya; Tuysuz, Beyhan; Ruiz-Perez, Victor
PREAI
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
2024-02-19
86
OAAI
Perez-Jurado, Luis A.; Caceres, Alejandro; Balague-Dobon, Laura; Esko, Tonu; de Heredia, Miguel Lopez; Quintela, Ines; Cruz, Raquel; Lapunzina, Pablo; Carracedo, Angel; Abellan, Javier; Acosta-Isaac, Rene; Maria Aguado, Jose; Aguilar, Carlos; Aguilera-Albesa, Sergio; Ahmadi Sabbagh, Abdolah; Alba, Jorge; Albu, Sergiu; Alcala-Gallardo, Karla A. M.; Alcoba-Florez, Julia; Alcolea Batres, Sergio; Rafael Algarin-Lara, Holmes; Almadana, Virginia; Medeiros, Kelliane A.; Almeida, Julia; Almoguera, Berta; Alonso, Maria R.; Alvarez, Nuria; Alvarez-Sala Walther, Rodolfo; Alvarez-Benitez, Yady; Alvarez-Navia, Felipe; dos Santos, Katiusse A.; Andreu-Bernabeu, Alvaro; Rosa Antonijoan, Maria; Martinez-Aquino, Eleno; Arana-Arri, Eunate; Aranda, Carlos; Arango, Celso; Araque, Carolina; Araujo, Nathalia K.; Arcanjo, Ana C.; Arnaiz, Ana; Arnalich Fernandez, Francisco; Arranz, Maria J.; Arribas Lopez, Jose Ramon; Artiga, Maria-Jesus; Avello-Malaver, Yubelly; Ayuso, Carmen; Ballina Martin, Belen; Baptista-Rosas, Raul C.; Maria Baldion, Ana; Barranco-Diaz, Andrea; Barreda-Sanchez, Maria; Barrera-Penagos, Viviana; Belhassen-Garcia, Moncef; Bernal-Bello, David; Bernal, Enrique; Bezerra, Joao F.; Bezerra, Marcos A. C.; Blanca-Lopez, Natalia; Blancas, Rafael; Boix-Palop, Lucia; Borobia, Alberto; Bravo, Elsa; Brion, Maria; Brochado-Kith, Oscar; Brugada, Ramon; Bustos, Matilde; Cabello, Alfonso; Caceres, Alejandro; Caceres-Agra, Juan J.; Calbo, Esther; Calderon, Enrique J.; Camacho, Shirley; Ceballos, Francisco C.; Canadas, Yolanda; Carbonell, Cristina; Cardona-Huerta, Servando; Sanchez-Carpintero Abad, Maria; Carpio Segura, Carlos; Antonio Carrillo-Avila, Jose; Campos, Marcela C.; Casasnovas, Carlos; Castano, Luis; Castano, Carlos F.; Castelao, Jose E.; Castellano Candalija, Aranzazu; Castillo, Maria A.; Chaves-Santiago, Walter G.; Chiquillo-Gomez, Sylena; Cid-Lopez, Marco A.; Cienfuegos-Jimenez, Oscar; Conde-Vicente, Rosa; Cunha, Gabriela C. R.; Lourdes Cordero-Lorenzana, M.; Corella, Dolores; Corrales, Almudena; Cortes-Sanchez, Jose L.; Corton, Marta; Souza, Karla S. C.; Silva, Fabiola T. C.; Cruz, Raquel; Cuesta, Luisa; Tavares, Nathali A. C.; Carvalho, Maria C. C.; Dalmau, David; Dantas-Komatsu, Raquel C. S.; Teresa Darnaude, M.; de Andres, Raimundo; de Juan, Carmen; de la Cruz Troca, Juan J.; de la Horra, Carmen; de la Hoz, Ana B.; De Martino-Rodriguez, Alba; Cruz, Marina S.; de Sousa Alves Neri, Julianna Lys; del Campo-Perez, Victor; Delgado-Cuesta, Juan; Diaz de Bustamante, Aranzazu; Diaz-Perez, Anderson; Dietl, Beatriz; Diz-de Almeida, Silvia; Alves, Manoella do Monte; Dominguez-Garrido, Elena; Rosa, Lidia S.; Luchessi, Andre D.; Echave-Sustaeta, Jose; Eiros, Rocio; Enciso-Olivera, Cesar O.; Escudero, Gabriela; Pablo Espana, Pedro; Estigarribia Sanabria, Gladys; Carmen Farinas, Maria; Fernandez, Ramon; Fernandez-Caballero, Lidia; Fernandez-Cruz, Ana; Fernandez-Ferrero, Silvia; Fernandez Martinez, Yolanda; Fernandez-Nestosa, Maria J.; Fernandez-Robelo, Uxia; Fernandez-Rodriguez, Amanda; Fernandez-Sampedro, Marta; Fernandez, Ruth; Fernandez-Villa, Tania; Fernandez-Capitan, Carmen; Carioca, Antonio Augusto F.; Flores-Perez, Patricia; Fuenmayor-Hernandez, Lacides; Fuertes-Nunez, Marta; Fumado, Victoria; Gadea, Ignacio; Gagliardi, Lidia; Gago-Dominguez, Manuela; Gallego, Natalia; Galoppo, Cristina; Garcia-Soidan, Ana; Garcia-Cerrada, Carlos; Garcia-de-Vicuna, Aitor; Garcia-Garcia, Josefina; Garcia-Garcia, Irene; Garcia-Ibarbia, Carmen; Garcia-Montero, Andres C.; Garcia, Leticia; Garcia, Mercedes; Garcia Torrejon, Maria Carmen; Garcia, Ines; Garcia-Vazquez, Elisa; Garza-Frias, Emiliano; Gentile, Angela; Gil-Fournier, Belen; de Araujo, Jessica N. G.; Gomez-Duque, Mario; Gomez-Arrue, Javier; Gomez Carrera, Luis; Gomez Garcia, Maria; Gomez Sacristan, Angela; Gonzalez, Juan R.; Gonzalez-Neira, Anna; Gonzalez Alvarez, Beatriz; Bernaldo de Quiros, Fernan Gonzalez; Gonzalez-Montelongo, Rafaela; Gonzalez-Penas, Javier; Gonzalez-Sagrado, Manuel; Gonzalo-Benito, Hugo; Gorgojo-Galindo, Oscar; Gorgolas, Miguel; Guaragna, Florencia; Chaux, Jessica G.; Guillen-Navarro, Encarna; Guillen-Guio, Beatriz; Guisado-Vasco, Pablo; Gutierrez-Castaneda, Luz D.; Gutierrez-Bautista, Juan F.; Heili-Frades, Sara; Jacomo, Rafael H.; Hernandez, Estefania; Hernandez-Moro, Cristina; Hernandez-Ortega, Luis D.; Hernandez-Perez, Guillermo; Hernandez-Vaquero, Rebeca; Herraez, Belen; Teresa Herranz, M.; Herrera, Maria; Jose Herrero, Maria; Herrero-Gonzalez, Antonio; Horcajada, Juan P.; Imaz-Ayo, Natale; Intxausti-Urrutibeaskoa, Maider; Inigo-Campos, Antonio; Iniguez, Maria; Jara, Ruben; Jimenez, Angel; Jimenez-Alfaro, Ignacio; Jimenez, Pilar; Jimenez-Sousa, Maria A.; Jordan, Iolanda; Laguna-Goya, Rocio; Laorden, Daniel; Lasa-Lazaro, Maria; Claudia Lattig, Maria; Lauriente, Ailen; Liger Borja, Anabel; Llanos, Lucia; Lopez-Bernus, Amparo; Lopez de Heredia, Miguel; Lopez-Garcia, Esther; Lopez-Granados, Eduardo; Lopez-Rodriguez, Rosario; Lopez-Ruz, Miguel A.; Lorente, Leonardo; Lorenzo-Salazar, Josem.; Lozano, Jose E.; Lozano-Espinosa, Maria; Mahillo, Ignacio; Mancebo, Esther; Mar, Carmen; Marcelo Calvo, Cristina; Marcos-Delgado, Alba; Marcos, Miguel; Marin-Candon, Alicia; Mariscal-Aguilar, Pablo; Martin-Pedraza, Laura; Martin-Fernandez, Marta; Martin-Lopez, Caridad; Martin-Oterino, Jose-Angel; Dolores Martin, Maria; Martin, Vicente; Martin, Maria M.; Martin-Vicente, Maria; Martinez, Amalia; Martinez-Gonzalez, Oscar; Martinez, Ricardo; Martinez-Paz, Pedro; Diaz-Caneja, Covadonga M.; Martinez-Nieto, Oscar; Martinez-Lopez, Iciar; Martinez-Resendez, Michel F.; Martinez, Silvia; Jose Martinez, Juan; Martinez-Perez, Angel; Martinez-Ramas, Andrea; Martinez-Robles, Violeta; Marzal, Laura; Mazzeu, Juliana F.; Medrano, Francisco J.; Meijome, Xose M.; Mejuto-Montero, Natalia; Mendes, Ingrid; Duarte, Alice L.; Mendez-Echevarria, Ana; Mendoza Charris, Humberto; Merayo Macias, Eleuterio; Mercadillo, Fatima; Mercado-Sesma, Arieh R.; Minguez, Pablo; Molina-Roldan, Elena; Molina, AntonioJ. J.; Jose Montoya, Juan; Pinho, Susana M. T.; Moreira-Escriche, Patricia; Morelos-Arnedo, Xenia; Moreno, Rocio; Moreno Cuerda, Victor; Moreno-Docon, Antonio; Moreno-Escalante, Junior; Moreno Fernandez, Alberto; Munoz Garcia, Patricia; Neira, Pablo; Nevado, Julian; Nieto-Ganan, Israel; Silbiger, Vivian N.; Nunez-Torres, Rocio; Obrador-Hevia, Antonia; Gonzalo Ocejo-Vinyals, J.; Olivar, Virginia; Oliveira, Silviene F.; Ondo, Lorena; Orfao, Alberto; Ortega-Paino, Eva; Ortega, Luis; Ortiz-Lopez, Rocio; Ortiz-Flores, Fernando; Oteo, Jose A.; Pacheco, Manuel; Javier Pacheco-Miranda, Fredy; Padilla-Conejo, Irene; Panadero-Fajardo, Sonia; Parellada, Mara; Pariente-Rodriguez, Roberto; Friaza, Vicente; Paz-Artal, Estela; Peces-Barba, German; Pedromingo Kus, Miguel S.; Perales, Celia; Santos, Ney P. C.; Guegel, Genilson P.; Jazmin Perez, Maria; Perez, Alexandra; Perez-Matute, Patricia; Perez, Cesar; Perez-de-Nanclares, Gustavo; Perez-Garcia, Felipe; Perez, Patricia; Perez-Jurado, Luis A.; Elena Perez-Tomas, M.; Perucho, Teresa; Pichardo, Lisbeth A.; Ribeiro, Adriana P.; Pinsach-Abuin, Mel lina; Adriana Pinzon, Luz; Medeiros, Jeane F. P.; Pita, Guillermo; Pla-Junca, Francesc; Planas-Serra, Laura; Pompa-Mera, Ericka N.; Porras-Hurtado, Gloria L.; Pujol, Aurora; Eugenia Quevedo-Chavez, Maria; Angeles Quijada, Maria; Quintela, Ines; Ramiro-Leon, Soraya; Rascado Sedes, Pedro; Nunes, Joana F. R.; Recalde, Delia; Recio-Fernandez, Emma; Resino, Salvador; Sousa, Renata R.; Rivadeneira-Chamorro, Carlos S.; Roa-Agudelo, Diana; Robelo Pardo, Montserrat; Fernandes, Marianne R.; Rodriguez-Hernandez, Maria A.; Rodriguez-Palmero, Agusti; Rodriguez-Ruiz, Emilio; Johanna Rodriguez, Marilyn; Rodriguez-Artalejo, Fernando; Rodriguez-Ferrer, Marena; Rodriguez-Gallego, Carlos; Rodriguez-Garcia, Jose A.; Rodriguez Maya, Belen; Rodriguez-Nicolas, Antonio; Ezequiel Rodriguez-Novoa, German; Rodriguez-Urrego, Paula A.; Rojo, Federico; Romero-Coronado, Andrea; Morilla, Ruben; Rondon-Garcia, Filomeno; Rosales-Castillo, Antonio; Rubio, Cladelis; Rubio Olivera, Maria; Ruiz-Cabello, Francisco; Ruiz-Casares, Eva; Ruiz-Cubillan, Juan J.; Ruiz-Hornillos, Javier; Ruiz, Montserrat; Ryan, Pablo; Salamanca, Hector D.; Salazar-Garcia, Lorena; Gabriela Salgueiro-Origlia, Giorgina; Sangil, Anna; Sanchez-Pernaute, Olga; Sanchez, Pedro-Luis; Sanchez Lopez, Antonio J.; Sanchez-Pablo, Clara; Concepcion Sanchez-Prados, Maria; Sanchez-Real, Javier; Sanchez-Redondo, Jorge; Sancho-Sainz, Cristina; Sande, Esther; Santos, Arnoldo; Schluter, Agatha; Segovia, Sonia; Serra-Llovich, Alex; Sevil-Puras, Fernando; Sevilla-Porras, Marta; Sicolo, Miguel A.; Silvan-Fuentes, Cristina; Moraes, Vitor M. S.; Souza, Vanessa S.; Sole-Violan, Jordi; Manuel Soria, Jose; Sorli, Jose V.; Silva, Nayara S.; Carlos Souto, Juan; Sprockel, John J.; Javier Suarez-Rama, Jose; Suarez-Zamora, David A.; Taboada-Fraga, Xiana; Tamayo, Eduardo; Tamayo-Velasco, Alvaro; Carlos Taracido-Fernandez, Juan; Vasconcelos, Romero H. T.; Telleria, Carlos; Carratto, Thassia M. T.; Antonio Tenorio-Castano, Jair; Teper, Alejandro; Araujo, Izabel M. T.; Torres-Macho, Juan; Torres-Tobar, Lilian; Torres-Gutierrez, Ronald P.; Troya, Jesus; Urioste, Miguel; Valencia-Ramos, Juan; Valido, Agustin; Pablo Vargas-Gallo, Juan; Varon, Belen; Vega, Tomas; Velasco-Quirce, Santiago; Velez-Santamaria, Valentina; Victor, Virginia; Vidan-Estevez, Julia; Silva, Gabriela V.; Vieitez-Santiago, Miriam; Vilches, Carlos; Villalobos, Lavinia; Villar, Felipe; Villar-Garcia, Judit; Villaverde, Cristina; Villoslada-Blanco, Pablo; Virseda-Berdices, Ana; Costa, Tatiana X.; Yanez, Zuleima; Zapatero-Gaviria, Antonio; Zarate, Ruth; Zazo, Sandra; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Gonzalez, Juan R.
The Human Phenotype Ontology in 2024: phenotypes around the world
NUCLEIC ACIDS RESEARCH
2023-11-11
30
OAAI
Gargano, Michael A.; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B.; Anagnostopoulos, Anna, V; Anderton, Joel; Avillach, Paul; Bagley, Anita M.; Bakstein, Eduard; Balhoff, James P.; Baynam, Gareth; Bello, Susan M.; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F.; Botas, Pablo; Boztug, Kaan; Cady, Jolana; Callahan, Tiffany J.; Cameron, Rhiannon; Carbon, Seth J.; Castellanos, Francisco; Caufield, J. Harry; Chan, Lauren E.; Chute, Christopher G.; Cruz-Rojo, Jaime; Dahan-Oliel, Noemi; Davids, Jon R.; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B. A.; de Vries, Esther; DePaulo, J. Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J. M.; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen, V; Freudenberg-Hua, Yun; Fullerton, Janice M.; Gabriel, Davera L.; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S.; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanusova, Katerina; He, Yongqun (Oliver); Hegde, Harshad; Helbig, Ingo; Holasova, Katerina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O. B.; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A.; Kraus, Megan L.; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S.; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L.; Martinez-Glez, Victor; McHenry, Toby H.; McInnis, Melvin G.; McMurry, Julie A.; Mihulova, Michaela; Millett, Caitlin E.; Mitchell, Philip B.; Moslerova, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A.; Cajbikova, Nikola Novak; Nurnberger, John I., Jr.; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K.; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M.; Roy, Suzy; Sanders, Stephan J.; Schuetz, Catharina; Schulte, Eva C.; Schulze, Thomas G.; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N.; Simon, Eric S.; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L.; Smolinsky, Jake T.; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A.; Tesner, Pavel; Thomas, Rhys H.; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E.; Vasilevsky, Nicole A.; Vlckova, Marketa; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S.; Wiafe, Addo A.; Wiafe, Samuel A.; Wiggins, Lisa D.; Williams, Andrew E.; Wu, Chen; Wyrwoll, Margot J.; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N.; Yocum, Anastasia K.; Young, Allan H.; Yueksel, Zafer; Zandi, Peter P.; Zankl, Andreas; Zarante, Ignacio; Zvolsky, Miroslav; Toro, Sabrina; Carmody, Leigh C.; Harris, Nomi L.; Munoz-Torres, Monica C.; Danis, Daniel; Mungall, Christopher J.; Koehler, Sebastian; Haendel, Melissa A.; Robinson, Peter N.
IF13.1
Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19
2023-06-06
4
OAAI
Alemany-Navarro, M.; Diz-de Almeida, S.; Cruz, R.; Riancho, J. A.; Rojas-Martinez, A.; Lapunzina, P.; Flores, C.; Carracedo, A.
Research Directions
No research directions

