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

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Utilization of sugarcane bagasse ash as green adsorbent for Fuchsin basic dye removal

利用甘蔗渣灰作为绿色吸附剂去除品红碱性染料

Patel, Jay R; Ambegaonkar, Nikita J; Patel, Ronak; Rajaraman, T S; Patel, Pratik; Patel, Piyush; Tahilramani, Naina H; Patel, Sunil R

Exploratory analysis of the accuracy of age-based maximal heart rate equations across cardiorespiratory fitness levels

对基于年龄的最大心率方程在不同心肺适能水平下的准确性进行探索性分析

Martin, Joel; Lindsey, Bryndan; Gerrity, Courtney; Ambegaonkar, Jatin

Isotype switching in human memory B cells sets intrinsic antigen-affinity thresholds that dictate antigen-driven fates

人类记忆B细胞的同型转换设定了内在的抗原亲和力阈值,从而决定了抗原驱动的命运。

Ambegaonkar, Abhijit A; Holla, Prasida; Sohn, Haewon; George, Rachel; Tran, Tuan M; Pierce, Susan K

Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain

利司他普兰治疗脊髓性肌萎缩症:安全性概况及在英国儿科人群早期药物获取计划中的应用

Cornell, Nikki; Childs, Anne-Marie; Wraige, Elizabeth; Munot, Pinki; Ambegaonkar, Gautam; Chow, Gabriel; Hughes, Imelda; Illingworth, Marjorie; Majumdar, Anirban; Marini-Bettolo, Chiara; Parasuraman, Deepak; Spinty, Stefan; Willis, Tracey; Scoto, Mariacristina; Baranello, Giovanni

Kinesiophobia in Injured Athletes: A Systematic Review

运动恐惧症在受伤运动员中的研究:系统性综述

Ambegaonkar, Jatin P; Jordan, Matthew; Wiese, Kelley R; Caswell, Shane V

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

对465个患有神经发育障碍的家庭进行基因组测序和全面的罕见变异分析

Sanchis-Juan, Alba; Megy, Karyn; Stephens, Jonathan; Armirola Ricaurte, Camila; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C; Gleadall, Nicholas; Duarte, Sofia T; Hedrera-Fernández, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; Woods, C Geoffrey; Raymond, F Lucy; Carss, Keren J

MAxSIM: multi-angle-crossing structured illumination microscopy with height-controlled mirror for 3D topological mapping of live cells

MAxSIM:一种利用高度可控反射镜进行活细胞三维拓扑映射的多角度交叉结构光照明显微镜

Pedro Felipe Gardeazabal Rodriguez ,Yigal Lilach ,Abhijit Ambegaonkar ,Teresa Vitali ,Haani Jafri ,Hae Won Sohn ,Matthew Dalva ,Susan Pierce ,Inhee Chung

Female Collegiate Dancers' Physical Fitness across Their Four-Year Programs: A Prospective Analysis

大学女子舞蹈运动员四年课程期间的身体素质:一项前瞻性分析

Ambegaonkar, Jatin P; Hansen-Honeycutt, Jena; Wiese, Kelley R; Cavanagh, Catherine M; Caswell, Shane V; Ambegaonkar, Shruti J; Martin, Joel

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

HNRNPA2B1基因的杂合移码变异会导致早发性眼咽肌营养不良症

Hong Joo Kim # ,Payam Mohassel # ,Sandra Donkervoort ,Lin Guo ,Kevin O'Donovan ,Maura Coughlin ,Xaviere Lornage ,Nicola Foulds ,Simon R Hammans ,A Reghan Foley ,Charlotte M Fare ,Alice F Ford ,Masashi Ogasawara ,Aki Sato ,Aritoshi Iida ,Pinki Munot ,Gautam Ambegaonkar ,Rahul Phadke ,Dominic G O'Donovan ,Rebecca Buchert ,Mona Grimmel ,Ana Töpf ,Irina T Zaharieva ,Lauren Brady ,Ying Hu ,Thomas E Lloyd ,Andrea Klein ,Maja Steinlin ,Alice Kuster ,Sandra Mercier ,Pascale Marcorelles ,Yann Péréon ,Emmanuelle Fleurence ,Adnan Manzur ,Sarah Ennis ,Rosanna Upstill-Goddard ,Luca Bello ,Cinzia Bertolin ,Elena Pegoraro ,Leonardo Salviati ,Courtney E French ,Andriy Shatillo ,F Lucy Raymond ,Tobias B Haack ,Susana Quijano-Roy ,Johann Böhm ,Isabelle Nelson ,Tanya Stojkovic ,Teresinha Evangelista ,Volker Straub ,Norma B Romero ,Jocelyn Laporte ,Francesco Muntoni ,Ichizo Nishino ,Mark A Tarnopolsky ,James Shorter ,Carsten G Bönnemann ,J Paul Taylor