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

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S L; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert B A; Dingemans, Alexander J M; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

系统性基准测试表明,大型语言模型尚未达到传统罕见病决策支持工具的诊断准确率。

Reese, Justin T; Chimirri, Leonardo; Bridges, Yasemin; Danis, Daniel; Caufield, J Harry; Gargano, Michael A; Kroll, Carlo; Schmeder, Andrew; Liu, Fengchen; Wissink, Kyran; McMurry, Julie A; Graefe, Adam S L; Niyonkuru, Enock; Korn, Daniel R; Casiraghi, Elena; Valentini, Giorgio; Jacobsen, Julius O B; Haendel, Melissa; Smedley, Damian; Mungall, Christopher J; Robinson, Peter N

A Phenotypic Paradigm for Cerebral Palsy Genetics

脑瘫遗传学的表型范式

Arterbery, Adam S; Gargano, Michael A; Bagley, Anita; Sundaramurthi, Jagadish Chandrabose; Rekerle, Lauren; Ordaz-Robles, Thania; Danis, Daniel; Graefe, Adam Sl; Arenas-Díaz, Ana L; Bauer, Jeremy P; Blau, Hannah; Carmody, Leigh; Carroll, Kristen L; Davis, Janice; Giampietro, Philip F; Gustafson, Anxhela Gjyshi; Hernandez, Monserat; Jacobsen, Julius Ob; Lemhouse, Paige; Millet, David; Mukherjee, Shubhra; Nairne, Patrick; Nice, Emily; Plotkin, Talia; Powell, Kenneth; Raney, Ellen M; Shingle, Mallory; Smedley, Damian; Smith, Peter A; Soliman, Demiana A; Westberry, David E; Davids, Jon R; Robinson, Peter N

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

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

An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

基于本体的罕见病通用数据模型,协调国际注册库、FHIR 和 Phenopackets。

Graefe, Adam S L; Hübner, Miriam R; Rehburg, Filip; Sander, Steffen; Klopfenstein, Sophie A I; Alkarkoukly, Samer; Grönke, Ana; Weyersberg, Annic; Danis, Daniel; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Wiegand, Susanna; Kühnen, Peter; Robinson, Peter N; Beyan, Oya; Thun, Sylvia

Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization

利用临床直觉提高基于表型的优先级排序的准确性

Beckwith, Martha A; Danis, Daniel; Bridges, Yasemin; Jacobsen, Julius O B; Smedley, Damian; Robinson, Peter N

RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets

RareLink:基于 REDCap 的可扩展罕见病互操作性框架,可将国际注册库与 FHIR 和 Phenopackets 连接起来。

Graefe, Adam S L; Rehburg, Filip; Alkarkoukly, Samer; Danis, Daniel; Grönke, Ana; Hübner, Miriam R; Bartschke, Alexander; Debertshäuser, Thomas; Klopfenstein, Sophie A I; Saß, Julian; Fleck, Julia; Rehberg, Mirko; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Kalashnikova, Tatiana; Murguía-Favela, Luis; Derfalvi, Beata; Wright, Nicola A M; Moosa, Shahida; Ogishima, Soichi; Semler, Oliver; Wiegand, Susanna; Kühnen, Peter; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N; Thun, Sylvia; Beyan, Oya

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

GA4GH表型包语料库:用于基因组诊断和发现的病例级表型分析

Danis, Daniel; Bamshad, Michael J; Bridges, Yasemin; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Carmody, Leigh C; Chimirri, Leonardo; Chong, Jessica X; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J; Graefe, Adam S L; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S; Marcello, Allison J; Mattina, Teresa; Mungall, Christopher J; Munoz-Torres, Monica C; Reese, Justin T; Rehburg, Filip; Reis, Bárbara C S; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F; Zocche, David; Haendel, Melissa A; Robinson, Peter N