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

Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease

深入的生化表型分析揭示了罕见基因变异在成人肾结石疾病中的预后价值

Münch, Johannes; Petrovska, Jana; Figueiro-Silva, Joana; Rubio-Aliaga, Isabel; Cabello, Elena M; Ivanovski, Ivan; Papik, Michael; Oneda, Beatrice; Fuster, Daniel G; Seeger, Harald; Ernandez, Thomas; Buchkremer, Florian; Wuerzner, Gregoire; Dhayat, Nasser A; Ritter, Alexander; Segerer, Stephan; Roth, Beat; Rauch, Anita; Ferraro, Pietro Manuel; Bonny, Olivier; Wagner, Carsten A; Bachmann-Gagescu, Ruxandra

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling

有害的ZNRF3种系变异通过对Wnt/β-catenin信号通路的特定结构域影响,导致具有镜像脑表型的神经发育障碍。

Boonsawat, Paranchai; Asadollahi, Reza; Niedrist, Dunja; Steindl, Katharina; Begemann, Anaïs; Joset, Pascal; Bhoj, Elizabeth J; Li, Dong; Zackai, Elaine; Vetro, Annalisa; Barba, Carmen; Guerrini, Renzo; Whalen, Sandra; Keren, Boris; Khan, Amjad; Jing, Duan; Palomares Bralo, María; Rikeros Orozco, Emi; Hao, Qin; Schlott Kristiansen, Britta; Zheng, Bixia; Donnelly, Deirdre; Clowes, Virginia; Zweier, Markus; Papik, Michael; Siegel, Gabriele; Sabatino, Valeria; Mocera, Martina; Horn, Anselm H C; Sticht, Heinrich; Rauch, Anita

Compost, plants and endophytes versus metal contamination: choice of a restoration strategy steers the microbiome in polymetallic mine waste

堆肥、植物和内生菌对抗金属污染:修复策略的选择决定了多金属矿山废料中的微生物群

Martina Kracmarova-Farren #, Jakub Papik #, Ondrej Uhlik, John Freeman, Andrea Foster, Mary-Cathrine Leewis, Courtney Creamer

Legacy Effects of Phytoremediation on Plant-Associated Prokaryotic Communities in Remediated Subarctic Soil Historically Contaminated with Petroleum Hydrocarbons

植物修复对历史上受石油烃污染的亚北极土壤中植物相关原核生物群落的遗留影响

Papik, Jakub; Strejcek, Michal; Musilova, Lucie; Guritz, Rodney; Leewis, Mary-Cathrine; Leigh, Mary Beth; Uhlik, Ondrej

Internet-Based Recruitment and Retention of Young Adults With Type 1 Diabetes: Cross-Sectional Study

基于互联网的1型糖尿病青年患者招募和留存:横断面研究

Griggs, Stephanie; Ash, Garrett I; Pignatiello, Grant; Papik, AnnMarie; Huynh, Johnathan; Leuchtag, Mary; Hickman, Ronald L Jr

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

评估孕前扩大携带者筛查在降低神经发育障碍残余风险方面的临床应用价值

Boonsawat, Paranchai; Horn, Anselm H C; Steindl, Katharina; Baumer, Alessandra; Joset, Pascal; Kraemer, Dennis; Bahr, Angela; Ivanovski, Ivan; Cabello, Elena M; Papik, Michael; Zweier, Markus; Oneda, Beatrice; Sirleto, Pietro; Burkhardt, Tilo; Sticht, Heinrich; Rauch, Anita

DNA stable isotope probing on soil treated by plant biostimulation and flooding revealed the bacterial communities involved in PCB degradation

利用植物生物刺激和淹水处理土壤的DNA稳定同位素探针分析,揭示了参与多氯联苯降解的细菌群落。

Vergani, Lorenzo; Mapelli, Francesca; Folkmanova, Magdalena; Papik, Jakub; Jansa, Jan; Uhlik, Ondrej; Borin, Sara

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

阐明原发性和继发性小头畸形的表型谱和遗传图谱

Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Passemard, Sandrine; Drunat, Séverine; Verloes, Alain; Horn, Anselm H C; Sticht, Heinrich; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

隐性遗传在早发性癫痫性脑病中的作用:一项结合全外显子组测序和拷贝数分析的研究

Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; Iff, Tobias; Schmitt-Mechelke, Thomas; Otten, Karoline; Hackenberg, Annette; Addor, Marie-Claude; Klein, Andrea; Azzarello-Burri, Silvia; Sticht, Heinrich; Joset, Pascal; Plecko, Barbara; Rauch, Anita

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

临床和实验证据表明,KIF7 与 C5orf42 相关纤毛病之间存在通过 Sonic Hedgehog 信号通路进行的联系。

Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B; Baumer, Alessandra; Boltshauser, Eugen; Steindl, Katharina; Nothnagel, Michael; Schinzel, Albert; Stoeckli, Esther T; Rauch, Anita