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J

James J. Dowling

University of Toronto
H指数:65
被引数:1.4万

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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

RNA测序在罕见疾病队列中的临床应用和分子洞察

Genome Medicine
IF11.2
2026-03-240
OAAI
Jamie C. Stark; Neta Pipko; Yijing Liang; Anna Szuto; Chung Ting Tsoi; Megan A. Dickson; Kyoko E. Yuki; Huayun Hou; Sydney Scholten; Kenzie Pulsifer; Meryl Acker; Meredith Laver; Harsha Murthy; Olivia M. Moran; Emily Bonnell; Nicole Liang; Jashanpreet Sidhu; Lucie Dupuis; Mohammad M. Ghahramani Seno; Marisa Chard; Rebekah K. Jobling; Jessie Cameron; Rose Chami; Michal Inbar-Feigenberg; Michael D. Wilson; David A. Chitayat; Kym M. Boycott; Lianna Kyriakopoulou; Roberto Mendoza-Londono; Christian R. Marshall; James J. Dowling; Gregory Costain; Ashish R. Deshwar
AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy

AAV8基因治疗与饮食性损伤共同诱发X连锁肌管性肌营养不良小鼠模型的胆汁淤积性肝病

Science Translational Medicine
IF14.6
2026-02-180
PRE
Emanuela Pannia; Rebecca Simonian; Nesrin Sabha; Nika Maani; Yingxuan Zhu; Sophie Karolczak; Vanessa Raileanu; Teodoro Bottiglieri; Gaia Andreoletti; Rachel D. Edgar; Sonya A. MacParland; Aleksandra Mitina; Clara E. Cho; Michael W. Lawlor; Kirsten E. Coleman; Barry J. Byrne; Ashish R. Deshwar; James J. Dowling
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

DENND2B基因的变异与神经发育障碍、精神病和紧张症的易感性相关。Brain

Brain
IF11.7
2026-01-011
PRE
Murthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study

筛查罕见遗传诊断以评估其是否适合定制反义寡核苷酸疗法的开发：一项回顾性队列研究

Genetics in Medicine
IF6.2
2025-10-110
PRE
David Cheerie; Marlen C. Lauffer; Logan Newton; Kimberly Amburgey; Danique Beijer; Bushra Haque; Brian T. Kalish; Margaret Meserve; Rachel Y. Oh; Amy Y. Pan; Miriam S. Reuter; Michael J. Szego; Anna Szuto; Annemieke Aartsma-Rus; Michelle M. Axford; Ashish R. Deshwar; James J. Dowling; Christian R. Marshall; Zhenya Ivakine; Matthis Synofzik; Timothy W. Yu; Gregory Costain
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel

先天性肌病基因的临床有效性由ClinGen先天性肌病专家小组确定

Journal of Neuromuscular Diseases
IF3.4
2025-06-100
PRE
Justyne E Ross; May Flowers; Shannon McNulty; Mayher Patel; Hui Yang; Brooke Palus; Marwa Abdelmoneim Elnagheeb; Lucy Eng; Emma Owens; Alan H Beggs; Enrico Bertini; Adele D'Amico; Sandra Donkervoort; James Dowling; Fabiana Fattori; Ana Ferreiro; Casie A Genetti; Hernan Gonorazky; Monkol Lek; Amanda Lindy; Livija Medne; Francesco Muntoni; Sander Pajusalu; Katarina Pelin; John Rendu; Anna Sarkozy; Matteo Vatta; Tom Winder; Grace Yoon; Carsten G Bönnemann; Ozge Ceyhan-Birsoy
Integrin α5β1 represents a novel therapeutic target to improve vascular remodeling in pulmonary arterial hypertension

整合素α5β1是改善肺动脉高压血管重塑的一个新型治疗靶点。

CIRCULATION
IF38.6
2024-11-121
PRE
Lemay, Sarah-Eve; Montesinos, Monica; Grobs, Yann; Yokokawa, Tetsuro; Shimauchi, Tsukasa; Romanet, Charlotte; Sauvaget, Melanie; Bonnet, Sandra Breuils; Bourgeois, Alice; Theberge, Charlie; Martineau, Sandra; Lippa, Blaise; Goodwin, Bryan; Lin, Albert; Wang, Hua; Dowling, James; Lu, Min; Qiao, Qi; McTeague, T. Andrew; Moy, Terence I.; Potus, Francois; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sebastien
Integrin α5β1 contributes to pathological remodeling of the right ventricle in pulmonary arterial hypertension

整合素α5β1参与肺动脉高压中右心室病理性重塑。

CIRCULATION
IF38.6
2024-11-120
PRE
Lemay, Sarah-Eve; Montesinos, Monica; Grobs, Yann; Bourgeois, Alice; Romanet, Charlotte; Sauvaget, Melanie; Bonnet, Sandra Breuils; Theberge, Charlie; Martineau, Sandra; Lippa, Blaise; Goodwin, Bryan; Lin, Albert; Wang, Hua; Dowling, James; Lu, Min; Qiao, Qi; McTeague, T. Andrew; Moy, Terence I.; Potus, Francois; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sebastien
Treatment of pulmonary arterial hypertension by blocking integrin a5b1, a potential disease-modifying strategy

通过阻断整合素α5β1治疗肺动脉高压，一种潜在的改变疾病进程的策略

CIRCULATION
IF38.6
2024-11-120
PRE
Montesinos, Monica; Lemay, Sarah-Eve; Kapoor, Parmita; Rapisardi, Hailey; Minh Hai Nguyen; Kim, Haejin; Akram, Muzaffar; Jain, Dhawal; Konopka, Elizabeth; Moy, Terence I.; Smukste, Inese; McTeague, T. Andrew; Dowling, James; Lama, Sujan; Pondish, Jessica; Qiao, Qi; Monroy, Meghan Monroy; Lin, Albert; Wang, Hua; Boucherat, Olivier; Sauvaget, Melanie; Potus, Francois; Breuils, Sandra; Theberge, Charlie; Provencher, Steeve; Ray, Adrian; Lippa, Blaise; Bonnet, Sebastien; Goodwin, Bryan; Lu, Min
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2024-11-110
OAAI
Ghasempour, Sina; Warner, Neil; Guan, Rei; Rodari, Marco M.; Ivanochko, Danton; Whittaker Hawkins, Ryder; Marwaha, Ashish; Nowak, Jan K.; Liang, Yijing; Mulder, Daniel J.; Stallard, Lorraine; Li, Michael; Yu, Daniel D.; Pluthero, Fred G.; Batura, Vritika; Zhao, Mo; Siddiqui, Iram; Upton, Julia E. M.; Hulst, Jessie M.; Kahr, Walter H. A.; Mendoza-Londono, Roberto; Charbit-Henrion, Fabienne; Hoefsloot, Lies H.; Khiat, Anis; Moreira, Diana; Trindade, Eunice; Espinheira, Maria do Ceu; Pinto Pais, Isabel; Weerts, Marjolein J. A.; Douben, Hannie; Kotlarz, Daniel; Snapper, Scott B.; Klein, Christoph; Dowling, James J.; Julien, Jean-Philippe; Joosten, Marieke; Cerf-Bensussan, Nadine; Freeman, Spencer A.; Parlato, Marianna; van Ham, Tjakko J.; Muise, Aleixo M.
Implication of Integrin α5β1 in right ventricular failure associated with pulmonary arterial hypertension
EUROPEAN RESPIRATORY JOURNAL
IF21
2024-10-300
PRE
Lemay, Sarah-Eve; Montesinos, Monica S.; Grobs, Yann; Theberge, Charlie; Sauvaget, Melanie; Yokokawa, Tetsuro; Shimauchi, Tsukasa; Romanet, Charlotte; Bourgeois, Alice; Breuils-Bonnet, Sandra; Martineau, Sandra; Dowling, James E.; Lu, Min; Saxena, Parmita; Mcteague, T. Andrew; Goodwin, Bryan; Lippa, Blaise; Potus, Francois; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sebastien
Identification of integrin a5b1 inhibition as a potentially disease-modifying approach for the treatment of pulmonary arterial hypertension
EUROPEAN RESPIRATORY JOURNAL
IF21
2024-10-300
PRE
Montesinos, Monica; Lemay, Sarah-Eve; Saxena, Parmita; Rapisardi, Hailey; Nguyen, Minh Hai; Kim, Hae Jin; Akram, Muzaffar; Jain, Dhawal; Konopka, Elizabeth H.; Moy, Terence I.; Smukste, Inese; Mcteague, Andrew; Dowling, James E.; Lama, Sujan; Pondish, Jessica; Qiao, Qi; Monroy, Meghan; Lin, Fu-Yang; Wang, Hua; Boucherat, Olivier; Sauvaget, Melanie; Potus, Francois; Breuils-Bonnet, Sandra; Theberge, Charlie; Provencher, Steeve; Ray, Adrian S.; Lippa, Blaise; Bonnet, Sebastien; Goodwin, Bryan; Lu, Min
The Discovery of MORF-627, a Highly Selective Conformationally-Biased Zwitterionic Integrin αvβ6 Inhibitor for Fibrosis
JOURNAL OF MEDICINAL CHEMISTRY
IF6.8
2024-10-240
PRE
Harrison, Bryce A.; Dowling, James E.; Bursavich, Matthew G.; Troast, Dawn M.; Chong, Katherine M.; Hahn, Kristopher N.; Zhong, Cheng; Mulvihill, Kristen M.; Nguyen, Hanh; Monroy, Meghan F.; Qiao, Qi; Sosa, Brian; Mostafavi, Siavash; Smukste, Inese; Lee, Dooyoung; Cappellucci, Laura; Konopka, Elizabeth H.; Nowakowski, Patrycja; Stawski, Lukasz; Senices, Mayra; Nguyen, Minh Hai; Kapoor, Parmita S.; Luus, Lia; Sullivan, Andrew; Bortolato, Andrea; Svensson, Mats; Hickey, Eugene R.; Konze, Kyle D.; Day, Tyler; Kim, Byungchan; Negri, Ana; Gerasyuto, Aleksey I.; Moy, Terence I.; Lu, Min; Ray, Adrian S.; Wang, Liangsu; Cui, Dan; Lin, Fu-Yang; Lippa, Blaise; Rogers, Bruce N.
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

针对50型遗传性痉挛性截瘫的AAV基因治疗：单例患者I期临床试验

NATURE MEDICINE
IF50
2024-06-283
OA
Dowling, James J.; Pirovolakis, Terry; Devakandan, Keshini; Stosic, Ana; Pidsadny, Mia; Nigro, Elisa; Sahin, Mustafa; Ebrahimi-Fakhari, Darius; Messahel, Souad; Varadarajan, Ganapathy; Greenberg, Benjamin M.; Chen, Xin; Minassian, Berge A.; Cohn, Ronald; Bonnemann, Carsten G.; Gray, Steven J.

研究方向

暂未获取到该数据
H
Hernán Gonorazky
H 指数:19论文数:113被引数:2,672
C
Carsten G. Bönnemann
H 指数:76论文数:547被引数:2.2万
A
Alan H. Beggs
H 指数:97论文数:947被引数:3.6万
K
Kimberly Amburgey
H 指数:13论文数:45被引数:1,331
J
Jonathan Volpatti
H 指数:11论文数:34被引数:410
A
Ashish R. Deshwar
H 指数:11论文数:37被引数:461
E
Eva L. Feldman
H 指数:121论文数:910被引数:5.8万
R
Robert T. Dirksen
H 指数:65论文数:284被引数:1.2万
R
Roberto Mendoza‐Londono
H 指数:41论文数:184被引数:8,832
M
Michael W. Lawlor
H 指数:43论文数:201被引数:4,931