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

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome

来自一种新型单基因自身炎症性疾病的启示:一项包含38例COPA综合征患者的多中心欧洲队列研究概述

David, Clémence; Nathan, Nadia; Al-Abadi, Eslam; Arkwright, Peter D; Bader-Meunier, Brigitte; Becker, Sebastian; Belot, Alexandre; Brennan, Mary; Breton, Sylvain; Bondet, Vincent; Cadranel, Jacques; Coulomb l'Hermine, Aurore; De Almeida, Sébastien; Duffy, Darragh; Poch, Teresa Clavaguera; de Becdelièvre, Alix; El Khalifi-Boulisfane, Siham; Gattorno, Marco; Gispert-Saüch, Montse; Gothe, Florian; Hatchuel, Yves; Herdliczko, Daniela; Kilinc, Ayse Ayzit; Koucky, Vaclav; Labouret, Géraldine; Manna, Raffaele; Maillard, Hélène; Matoses Ruipérez, María Luisa; Matucci-Cerinic, Caterina; Mensa-Vilaro, Anna; Michel, Katarzyna; Molina, Thierry Jo; Lopez Montesinos, Berta; Newman, William G; Papenkort, Julia; Rapp, Christina; Rames, Cinthia; Rice, Gillian I; Rose, Markus A; Reumaux, Heloise; Sailler, Laurent; Schwerk, Nicolaus; Seabra, Luis; Sellam, Jérémie; Taddio, Andrea; Thumerelle, Caroline; Tommasini, Alberto; Tusseau, Maud; Volpi, Stefano; Wetzke, Martin; Weiss, Laurence; Welfringer-Morin, Anne; Wislez, Marie; Griese, Matthias; Crow, Yanick J; Frémond, Marie-Louise

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

Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia.

肺泡毛细血管发育不良毛细血管网中的多层基底膜

Kamp Jan C, Neubert Lavinia, Schupp Jonas C, Braubach Peter, Wrede Christoph, Laenger Florian, Salditt Tim, Reichmann Jakob, Welte Tobias, Ruhparwar Arjang, Ius Fabio, Schwerk Nicolaus, Bergmann Anke K, von Hardenberg Sandra, Griese Matthias, Rapp Christina, Olsson Karen M, Fuge Jan, Park Da-Hee, Hoeper Marius M, Jonigk Danny D, Knudsen Lars, Kuehnel Mark P

Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease

量化与间质性肺病相关的ABCA3变异体的功能障碍

Yang, Xiaohua; Rapp, Christina K; Li, Yang; Forstner, Maria; Griese, Matthias

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine

ABCA3 缺陷变异体对羟氯喹的特异性反应

Yang, Xiaohua; Forstner, Maria; Rapp, Christina K; Rothenaigner, Ina; Li, Yang; Hadian, Kamyar; Griese, Matthias

Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!

儿童间质性肺病弥漫性肺泡出血:确定病因!

Knoflach, Katrin; Rapp, Christina Katharina; Schwerk, Nicolaus; Carlens, Julia; Wetzke, Martin; Emiralioğlu, Nagehan; Kiper, Nural; Ring, Astrid Madsen; Buchvald, Frederik; Manali, Effrosyni; Papiris, Spyros; Reu-Hofer, Simone; Kappler, Matthias; Schieber, Alexandra; Seidl, Elias; Gothe, Florian; Robinson, Peter N; Griese, Matthias

The Human Phenotype Ontology in 2021

2021年的人类表型本体论

Köhler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C; Lewis-Smith, David; Vasilevsky, Nicole A; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M; Callahan, Tiffany J; Chute, Christopher G; Est, Johanna L; Galer, Peter D; Ganesan, Shiva; Griese, Matthias; Haimel, Matthias; Pazmandi, Julia; Hanauer, Marc; Harris, Nomi L; Hartnett, Michael J; Hastreiter, Maximilian; Hauck, Fabian; He, Yongqun; Jeske, Tim; Kearney, Hugh; Kindle, Gerhard; Klein, Christoph; Knoflach, Katrin; Krause, Roland; Lagorce, David; McMurry, Julie A; Miller, Jillian A; Munoz-Torres, Monica C; Peters, Rebecca L; Rapp, Christina K; Rath, Ana M; Rind, Shahmir A; Rosenberg, Avi Z; Segal, Michael M; Seidel, Markus G; Smedley, Damian; Talmy, Tomer; Thomas, Yarlalu; Wiafe, Samuel A; Xian, Julie; Yüksel, Zafer; Helbig, Ingo; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N