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研究兴趣

论文共 157 篇作者统计合作学者相似作者

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Family Well-Being in Families with Children and Young People with Wolf-Hirschhorn Syndrome
Cristina Bel-Fenellós, Chantal Biencinto-López, Cristina Orio-Aparicio, Xana da Silva-Mori, Jair Antonio Tenorio-Castaño,Pablo Lapunzina,Julián Nevado
Research in developmental disabilities (2025): 104974-104974
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Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases
Leonardo Chimirri,J Harry Caufield,Yasemin Bridges,Nicolas Matentzoglu, Michael Gargano, Mario Cazalla, Shihan Chen,Daniel Danis, Alexander Jm Dingemans, 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 Ba de Vries,Kai Wang, Kyran Wissink, Zafer Yüksel, Gabriele Zucca,Melissa A Haendel,Christopher J Mungall, Justin Reese,Peter N Robinson
medRxiv the preprint server for health sciences (2025)
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Genotype-Phenotype Associations in Phelan-McDermid Syndrome: Insights into Novel Genes Beyond SHANK3
Julian Nevado, Blanca Escalada, Yolanda Muñoz-GªPorrero, Carmen Adan, Jair Tenorio-Castaño, Pablo Daniel Lapunzina
International journal of molecular sciencesno. 10 (2025)
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Moderate to Severe Short Stature and Joint Involvement in Individuals with ACAN Deletions
Lucia Sentchordi-Montané, Francisca Díaz-Gonzalez, Silvia Modamio-Høybjør,Julián Nevado, Flavia Machado-Fernandes, Atilano Carcavilla, María Salcedo,Jorge Saraiva,Sarina G Kant, Christian de Bruin,Hermine A van Duyvenvoorde, Iris González-Cabaleiro, Lourdes Rey-Cordo, José Luis Chamorro-Martín, Vanesa Cancela-Muñiz, José Juan Alcón-Sáez, Manuel Parrón-Pajares,Sergio B Sousa,Karen E Heath
Clinical endocrinology (2025)
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A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome
Alejandro Parra, Mario Cazalla, Juan A Jimenez-Estrada,Cristina Silván, Lucía Miranda-Alcaraz, Natalia Gallego-Zazo, Mónica Mora-Gómez, Manuel Rodríguez-Canó,Pedro Arias, Carlos Rodríguez-Antolín,Julián Nevado, Víctor Luis Ruiz Pérez, Jair Tenorio-Castano,Pablo Lapunzina
American journal of medical genetics Part App.e64074-e64074, (2025)
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Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female with Fragile X Syndrome
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
Clinical genetics (2025)
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Phenotype and Psychometric Characterization of Phelan-McDermid Syndrome Patients: Pioneering Towards Personalized Medicine
Julián Nevado, Filippo Ciceri, Cristina Bel-Fenellós, Jair A Tenorio-Castaño,Tamara Maes, Jordi Xaus,Carlos Buesa,Pablo Lapunzina
Frontiers in psychiatry (2025): 1511962-1511962
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Snijders-Blok-Campeau Syndrome (CHD3 Gene): Description of Seven Clinical Cases with Novel Pathogenic Variants
Patricia Pascual Vinagre,Jair Tenorio,Mario Cazalla,Alejandro Parra,Cristina Silvan,Natalia Gallego,Pedro Arias, Feliciano Ramos,Julian Nevado,Pablo Lapunzina, Berta Almoguera Castillo,Varunvenkat Srinivasan, Vykuntaraju K. Gowda
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 489-489
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作者统计

#Papers: 157

#Citation: 2426

H-Index: 30

G-Index: 44

Sociability: 7

Diversity: 3

Activity: 34

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