日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Enhancing Type 1 Diabetes Polygenic Risk Prediction Through Neural Networks and Entropy-Derived Insights

通过神经网络和熵衍生见解增强1型糖尿病多基因风险预测

Nadal-Martínez, Antonio; Pérez-Solero, Guillermo; Ferreiro López, Sandra; Blom-Dahl, Jorge; Montanya, Eduard; Alonso-Bernáldez, Marta; Shabot, Moises; Binsch, Christian; Szczerbinski, Lukasz; Kretowski, Adam; Nevado, Julián; Lapunzina, Pablo; Wagner, Robert; Tenorio-Castano, Jair

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder

CACNB1基因N端截短变异会导致一种新的先天性肌肉疾病。

Iturrate, Asier; Assia Batzir, Nurit; Jaron, Ranit; Garcia-Valentin, David; Nevado, Julian; Tenorio-Castano, Jair; Lapunzina, Pablo; Lee, Kamila; Greenberg, Rotem; Sassi, Dvora; Aharoni, Sharon; Kuzminsky, Alla; Basel-Salmon, Lina; Orenstein, Naama; Fellig, Yakov; Ben-Shachar, Shay; Marek-Yagel, Dina; Ruiz-Perez, Victor L

Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G

更正:病例报告:由FAM83G基因致病性移码缺失引起的常染色体隐性掌跖角化症伴双侧听力丧失

Mora-Gómez, Mónica; Feito, Marta; Gallego-Zazo, Natalia; Maseda-Pedrero, Rocío; Sobral-Costas, Tristán G; Miranda-Alcaraz, Lucía; Vásquez-Amell, Valeria; Rodríguez-Canó, Manuel; Parra, Alejandro; Cazalla, Mario; Arias, Pedro; Silván, Cristina; Jiménez-Estrada, Juan A; Ruiz-Pérez, Víctor L; Nevado, Julián; Lapunzina, Pablo; Tenorio-Castano, Jair

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum

新一代测序技术在更广泛的PKHD1相关疾病谱中确定了分子确诊的ARPKD核心区域

Lapunzina-Soler, Paloma; Shabaka, Amir; Peces, Ramón; Alonso, Ángel; Cuesta, Emilio; Mena, Rocío; Espinosa-Román, Laura; Melgosa, Marta; Fernández, Gema; Muñoz-GᵃPorrero, Yolanda; Tenorio-Castaño, Jair; Lapunzina, Pablo; Nevado, Julián

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

小核RNA基因RNU2-2的突变会导致严重的神经发育障碍,并伴有明显的癫痫症状。

Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Solà, Marta; Jensson, Brynjar O; Hales, Emma; Katrinecz, Andrea; Nieto Molina, Esther; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodríguez, Anna; Fernández Garoz, Bárbara; Foulds, Nicola; García-Navas Núñez, Deyanira; González Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G; Madrigal Bajo, Irene; Martinez-Monseny, Antonio F; McKee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodríguez-Revenga Bodi, Laia; Sariego Jamardo, Andrea; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Ángel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F; Barakat, Tahsin Stefan; O'Donoghue, Michael; Pérez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D; Turro, Ernest

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases

大型语言模型在十种语言和 4917 个病例的罕见病诊断中表现出一致的性能

Chimirri, Leonardo; Caufield, J Harry; Bridges, Yasemin; Matentzoglu, Nicolas; Gargano, Michael; Cazalla, Mario; Chen, Shihan; Danis, Daniel; Dingemans, Alexander J M; Gehle, Klara; Gehle, Petra; Graefe, Adam S L; Gu, Weihong; Ladewig, Markus S; Lapunzina, Pablo; Nevado, Julián; Niyonkuru, Enock; Ogishima, Soichi; Seelow, Dominik; Tenorio Castaño, Jair A; Turnovec, Marek; de Vries, Bert B A; Wang, Kai; Wissink, Kyran; Yüksel, Zafer; Zucca, Gabriele; Haendel, Melissa A; Mungall, Christopher J; Reese, Justin; Robinson, Peter N

A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: The AVATAR Trial

一项整合基因组学和虚拟化身模型用于胰腺癌个性化治疗的III期随机试验:AVATAR试验

Sarno, Francesca; Tenorio, Jair; Perea, Sofia; Medina, Laura; Pazo-Cid, Roberto; Juez, Ignacio; Garcia-Carbonero, Rocío; Feliu, Jaime; Guillen-Ponce, Carmen; Lopez-Casas, Pedro P; Guerra, Carmen; Duran, Yolanda; López-Acosta, José Francisco; Alonso, Carolina; Esquivel, Estrella; Dopazo, Ana; Akshinthala, Dipikaa; Muthuswamy, Senthil K; Lapunzina, Pablo; Bockorny, Bruno; Hidalgo, Manuel

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

编码突触前蛋白 Bassoon 的 BSN 基因变异会导致一种独特的神经发育障碍,其表型范围很广。

Guzman, Stacy G; Ruggiero, Sarah M; Ganesan, Shiva; Ellis, Colin A; Harrison, Alicia G; Sullivan, Katie R; Stark, Zornitza; Brown, Natasha J; Kana, Sajel L; Tuttle, Anabelle; Tenorio, Jair; Lapunzina, Pablo; Nevado, Julián; McDonald, Marie T; Jensen, Courtney; Wheeler, Patricia G; Stange, Lila; Morrison, Jennifer; Keren, Boris; Heide, Solveig; Keating, Meg W; Butler, Kameryn M; Lyons, Mike A; Jain, Shailly; Yeganeh, Mehdi; Thompson, Michelle L; Schroeder, Molly; Nguyen, Hoanh; Granadillo, Jorge; Johnston, Kari M; Murali, Chaya N; Bosanko, Katie; Burrow, T Andrew; Morgan, Syreeta; Watson, Deborah J; Hakonarson, Hakon; Helbig, Ingo

Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

感染如何塑造当前欧洲线粒体单倍群频率:以SARS-CoV-2严重程度为例

Cabrera-Alarcon, José Luis; Cruz, Raquel; Rosa-Moreno, Marina; Latorre-Pellicer, Ana; de Almeida, Silvia Diz; Riancho, José A; Rojas-Martinez, Augusto; Flores, Carlos; Lapunzina, Pablo; Sánchez-Cabo, Fátima; Carracedo, Ángel; Enriquez, José Antonio