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Research Interests

Papers共 454 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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合作机构
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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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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Polygenic Risk of Idiopathic Pulmonary Fibrosis and COVID-19 Severity
Beatriz Guillen-Guio, Itahisa Marcelino-Rodriguez, José Miguel Lorenzo-Salazar, Olivia C Leavy, Richard J Allen, Ericka N Pompa-Mera,José A Riancho,Augusto Rojas-Martinez,Pablo Lapunzina, Ángel Carracedo, Louise V Wain,Carlos Flores
ERJ open research（2025）
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Androgens Mediate Sexual Dimorphism in Pilarowski-Bjornsson Syndrome
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif Almontashiri,Brenda J Barry,Matthias Begemann, Jacquelyn F Britton, Sarah Burke, Benjamin Cogne,Ana S A Cohen, Carles de Diego Boguñá, Evan E Eichler,Elizabeth C Engle,Jill A Fahrner,Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W Gao, Gunjan Garg, Dagmar Grečmalová, Mina Grippa, Jacqueline R Harris,Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A Jurgens, Stanislav Kmoch,Cordula Knopp, Meral Aktas Koptagel, Farah A Ladha,Pablo Lapunzina, Tobias Lindau,Marije Meuwissen, Andreina Minicucci,Emily Neuhaus,Mathilde Nizon, Lenka Nosková,Kristen Park,Chirag Patel,Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H Robin, Carey Ronspies, Jasmin Roohi, Jill Rosenfeld,Margarita Saenz,Carol Saunders,Zornitza Stark,Isabelle Thiffault, Sarah Thull,Danita Velasco, Clara Velmans, Jolijn Verseput,Antonio Vitobello,Tianyun Wang, Karin Weiss,Ingrid M Wentzensen, Genay Pilarowski, Thor Eysteinsson, Madelyn Gillentine,Kári Stefánsson, Agnar Helgason, Gregory D Bowman, Hans Tomas Bjornsson
medRxiv the preprint server for health sciences（2025）
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Author Statistics

#Papers: 454

#Citation: 10545

H-Index: 52

G-Index: 88

Sociability: 8

Diversity: 3

Activity: 65

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