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

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar

ACMG/AMP指南在肺动脉高压BMPR2变异体临床分类中的应用解决了ClinVar数据库中致病性不明的变异体问题。

Eichstaedt, Christina A; Maldonado-Velez, Gabriel; Machado, Rajiv D; Gräf, Stefan; Dooijes, Dennis; Balachandar, Srimmitha; Coulet, Florence; Day, Kristina; Eyries, Melanie; Macaya, Daniela; Shaukat, Memoona; Southgate, Laura; Tenorio-Castano, Jair; Chung, Wendy K; Welch, Carrie L; Aldred, Micheala A

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

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

Development of a k-Nearest Neighbors Model for the Prediction of Late-Onset Alzheimer's Risk by Combining Polygenic Risk Scores and Phenotypic Variables

结合多基因风险评分和表型变量,构建k近邻模型预测晚发性阿尔茨海默病风险

Ferreiro López, Sandra; Ferrero, Rosana; Blom-Dahl, Jorge; Alonso-Bernáldez, Marta; González, Adán; Pérez-Solero, Guillermo; Tenorio-Castano, Jair

The Human Phenotype Ontology in 2024: phenotypes around the world

2024 年人类表型本体论:世界各地的表型

Gargano, Michael A; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B; Anagnostopoulos, Anna V; Anderton, Joel; Avillach, Paul; Bagley, Anita M; Bakštein, Eduard; Balhoff, James P; Baynam, Gareth; Bello, Susan M; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F; Botas, Pablo; Boztug, Kaan; Čady, 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, Noémi; 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; Hanušová, Kateřina; He, Yongqun Oliver; Hegde, Harshad; Helbig, Ingo; Holasová, Kateřina; 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; Mihulová, Michaela; Millett, Caitlin E; Mitchell, Philip B; Moslerová, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A; Čajbiková, Nikola Novák; 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; Vlčková, Markéta; 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; Yüksel, Zafer; Zandi, Peter P; Zankl, Andreas; Zarante, Ignacio; Zvolský, Miroslav; Toro, Sabrina; Carmody, Leigh C; Harris, Nomi L; Munoz-Torres, Monica C; Danis, Daniel; Mungall, Christopher J; Köhler, Sebastian; Haendel, Melissa A; Robinson, Peter N

Mortality in Patients with 22q11.2 Rearrangements

22q11.2重排患者的死亡率

Cilio Arroyuelo, Melisa; Tenorio-Castano, Jair; García-Moya, Luis Fernández; Parra, Alejandro; Cazalla, Mario; Gallego, Natalia; Miranda, Lucía; Mori, María Ángeles; García-Gueretta, Luis; Labrandero, Carlos; Mansilla, Elena; Rikeros, Emi; García-Santiago, Fe; Vallcorba, Isabel; Arias, Pedro; Silván, Cristina; Deiros Bronte, Lucia; Nevado, Julián; Lapunzina, Pablo

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

多位点印记紊乱(MLID):临床和分子诊断临时联合声明

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; Ambrozaitytė, Laima; Burnytė, Birutė; Cerrato, Flavia; Davies, Justin H; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I; Õunap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R; Lapunzina, Pablo; Netchine, Irène; Eggermann, Thomas; Bliek, Jet; Tümer, Zeynep

Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

肺动脉高压的遗传咨询和检测:国际肺动脉高压遗传研究联盟共识声明

Eichstaedt, Christina A; Belge, Catharina; Chung, Wendy K; Gräf, Stefan; Grünig, Ekkehard; Montani, David; Quarck, Rozenn; Tenorio-Castano, Jair A; Soubrier, Florent; Trembath, Richard C; Morrell, Nicholas W