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

Activating PRKG1 Variant Enhances Smooth Muscle Cell Deformability to Cause Aortopathy.

激活 PRKG1 变体可增强平滑肌细胞变形能力,从而导致主动脉病变。

Jost Marie E, Schweizer Moyra, Henning Philipp, Gorzelanny Christian, Lehners Moritz, Ellinger Bernhard, Boix-Campos Javier, Kux Johan-Moritz, Singh Shubhangi, Fachinger Alexandra, Martinez Pomier Karla, VanSchouwen Bryan, Billing Anja M, Biedenweg Doreen, Schweizer Michaela, Siegel Saskia, Reimer Rudolph, Brandt Mona, Priesmeier Laura, Fuchs Ulrike, Pflaumenbaum Julia, Nikolaev Viacheslav O, Newbury-Ecob Ruth, Wilsdon Anna, Rybczynski Meike, Gehle Petra, Zelarayán Laura C, Stafforst Thorsten, Feil Robert, Rinschen Markus M, Pless Ole, Eaton Philip, Sáez Pablo J, Otto Oliver, Melacini Giuseppe, Demal Till J, Eschenhagen Thomas, Herberg Friedrich W, Cuello Friederike

Developmental reprogramming underlies chemotherapy resistance in favorable-histology Wilms tumor

发育重编程是预后良好型肾母细胞瘤化疗耐药的根本原因。

Fleming, Andrew M; Jablonowski, Carolyn M; Jin, Hongjian; Zhang, Siwei; Sona, Surbhi; Lee, Ha Won; Dieseldorff Jones, Karissa M; Cheng, Changde; Xu, Beisi; Morton, Christopher L; Woolard, Mary A; Pichavaram, Prahalathan; Gehle, Daniel B; Natarajan, Sivaraman; Kodali, Kiran; Pagala, Vishwajeeth; High, Anthony A; Kumar, Yogesh; Burden, Steven; Valentine, Virginia; Daria, Deidre; Harbour, Jake; Vocelle, Daniel; Chang, Ti-Cheng; Easton, John; Olsen, Scott R; Neale, Geoffrey; Pinto, Emilia M; Rehg, Jerold E; Janke, Laura; Santiago, Teresa; George, Rani E; Ma, Xiaotu; Zambetti, Gerard P; Davidoff, Andrew M; Chen, Taosheng; Wu, Gang; Chen, Xiang; Yang, Jun; Murphy, Andrew J

Melanocortin 3 receptor regulates hepatic autophagy and systemic adiposity.

黑皮质素 3 受体调节肝脏自噬和全身脂肪沉积

Patel Tushar P, Jun Joo Yun, Seo Arnold Y, Levi Noah J, Elizondo Diana M, Chen Jocelyn, Wong Adrian M, Tugarinov Nicol, Altman Elizabeth K, Gehle Daniel B, Jung Sun Min, Patel Pooja, Ericson Mark, Haskell-Luevano Carrie, Demby Tamar C, Cougnoux Antony, Wolska Anna, Yanovski Jack A

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

Advancements in bioengineering for descemet membrane endothelial keratoplasty (DMEK)

后弹力层内皮角膜移植术(DMEK)生物工程进展

Zwingelberg, Sarah Barbara; Karabiyik, Gizem; Gehle, Paul; von Brandenstein, Melanie; Eibichova, Sabina; Lotz, Christian; Groeber-Becker, Florian; Kampik, Daniel; Jurkunas, Ula; Geerling, Gerd; Lang, Gregor

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS

Shprintzen-Goldberg综合征:一项纳入29例SGS患者的国际队列研究的心血管特征随访。

Bouhatous, Yordi-Michaël; Arnaud, Pauline; Jondeau, Guillaume; Bonneau, Dominique; Rouleau, Frédéric; Plessis, Ghislaine; Vincent, Aline; Labombarda, Fabien; Maragnes, Pascale; Delanne, Julian; Muller, Matthias; Coubes, Christine; Bredy, Charlene; Gouya, Laurent; Odent, Sylvie; Basquin, Adeline; Dupuis-Girod, Sophie; Barthelet, Martine; Ginglinger, Emmanuelle; Delobel, Bruno; Vaksmann, Guy; Alessandri, Jean-Luc; Arsac, Louis André; Thomas, Edouard; Julia, Sophie; Chesneau, Bertrand; Dulac, Yves; Callewaert, Bert; Loeys, Bart; Vaerle, Maxim; Menke, Leonie A; Groenink, Maarten; Ades, Lesley; Ballesta-Martinez, Maria Juliana; Shanske, Alan L; Tinschert, Sigrid; Gehle, Petra; Thauvin-Robinet, Christel; Eicher, Jean-Christophe; Falcon-Eicher, Sylvie; Boileau, Catherine; Binquet, Christine; Hanna, Nadine; Faivre, Laurence

Association of prenatal alcohol exposure and prenatal depressive symptoms with offspring hair cortisol in childhood and adolescence

产前酒精暴露和产前抑郁症状与儿童期和青春期后代头发皮质醇水平的相关性

Plank, Anne-Christine; Panaseth-Gehle, Kerstin; Gerlach, Jennifer; Mestermann, Stefan; Fasching, Peter A; Beckmann, Matthias W; Kratz, Oliver; Moll, Gunther H; Lenz, Bernd; Kornhuber, Johannes; Eichler, Anna

Perioperative Antibiotic Use in Pediatric Solid Tumor Resection: A Two-center Retrospective Cohort Study

儿童实体瘤切除术围手术期抗生素使用情况:一项双中心回顾性队列研究

Halepota, Huma Faiz; Zeng, Emily; Mothi, Suraj Sarvode; Zaghloul, Tarek M; Gehle, Daniel B; Nwachukwu, Ijeoma; Houston, Mary Beth; Lynn, Matthew Joseph; Crouzen, Emile; Lakshminarayanan, Bhanumathi; Murphy, Andrew Jackson

Characterizing Sensitivity to Vincristine, Irinotecan, and Telomerase-targeted Therapy in Diffuse Anaplastic Wilms Tumor Patient-derived Xenografts(☆).

弥漫性间变性 Wilms 肿瘤患者来源异种移植瘤对长春新碱、伊立替康和端粒酶靶向治疗的敏感性特征(★)

Gehle Daniel B, Jablonowski Carolyn M, Pichavaram Prahalathan, Singh Shivendra, Woolard Mary A, Morton Christopher L, Billups Catherine A, Davidoff Andrew M, Yang Jun, Murphy Andrew J