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Ashish R. Deshwar

University of Toronto
H指数:11
被引数:459

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荣誉奖项

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A novel phenotype-guided genome analysis pipeline for variant discovery

一种基于表型指导的基因组分析管道，用于变异发现

npj Genomic Medicine
IF4.8
2026-03-280
OAAI
Layla Ahmed; Erika Tavares; Janice Min Li; Kashif Ahmed; Maanik Mehta; Christabel Eileen; Genevieve Ah-Sen; Rahma Osman; Kit Green-Sanderson; Anna Dvaladze; Graeme Nimmo; Ashish R. Deshwar; Tara Paton; Guillermo Casallo; Christian R. Marshall; Elise Heon; Ajoy Vincent
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
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

DOT1L的缺失破坏了神经元转录，并导致神经发育障碍

BRAIN
IF11.7
2025-12-010
PRE
Maroni, Marissa J.; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R.; Campbell, Philip D.; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Victor; Repetto, Gabriela M.; McKenna, Caoimhe; Shillington, Amelle L.; Phornphutkul, Chanika; Hove, Hanne B.; Mancini, Grazia M. S.; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M.; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Heron, Delphine; van Aalst, Minke M. A.; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L.; Kozenko, Mariya A.; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, Francois; Cassinari, Kevin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A. Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina, I; Bakhtiari, Somayeh; Mester, Jessica L.; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica
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
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
GENETICS IN MEDICINE
IF6.2
2024-02-010
PRE
Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-11-012
OAAI
Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum
GENETICS IN MEDICINE
IF6.2
2023-08-011
OAAI
Priestley, Jessica R. C.; Deshwar, Ashish R.; Murthy, Harsha; D'Agostino, Maria D.; Dupuis, Lucie; Gangaram, Balram; Gray, Christopher; Jobling, Rebekah; Pannia, Emanuela; Platzer, Konrad; Prescott, Katrina; Redman, Melody; Rippert, Alyssa L.; Rosenfeld, Jill A.; Scott, Daryl A.; Wang, Yi W.; Schmederer, Zelia; Dalal, Ashwin; Sarma, Asodu S.; Skraban, Cara; Dowling, James J.; Mendoza-Londono, Roberto; Slavotinek, Anne; Bhoj, Elizabeth J.
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

SMPD4调节有丝分裂核膜动力学及其损失导致小头畸形和糖尿病

BRAIN
IF11.7
2023-02-036
OAAI
Smits, Daphne J.; Schot, Rachel; Krusy, Nathalie; Wiegmann, Katja; Utermoehlen, Olaf; Mulder, Monique T.; den Hoedt, Sandra; Yoon, Grace; Deshwar, Ashish R.; Kresge, Christina; Pletcher, Beth; van Mook, Maura; Ferreira, Marta Serio; Poot, Raymond A.; Slotman, Johan A.; Kremers, Gert-Jan; Ahmad, Abeer; Albash, Buthaina; Bastaki, Laila; Marafi, Dana; Dekker, Jordy; van Ham, Tjakko J.; Nguyen, Laurent; Mancini, Grazia M. S.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications

CLDN5的变异引起以癫痫、小头畸形和脑钙化为特征的综合征

BRAIN
IF11.7
2022-12-089
OA
Deshwar, Ashish R.; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P.; Noche, Ramil; Walker, Suzi; Scherer, Stephen W.; Mahida, Sonal; Elitt, Christopher M.; Nicolas, Gael; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M.; Drayson, Lucy; Baranano, Kristin W.; Chassevent, Anna; Agre, Katie; Letard, Pascaline; Bilan, Frederic; Le Guyader, Gwenael; Laquerriere, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L. P.; Blaser, Susan; Dowling, James J.; Weksberg, Rosanna
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

RABGAP1中的双等位基因功能丧失变体导致一种新的神经发育综合征

GENETICS IN MEDICINE
IF6.2
2022-11-014
OAAI
Oh, Rachel Youjin; Deshwar, Ashish R.; Marwaha, Ashish; Sabha, Nesrin; Tropak, Michael; Hou, Huayun; Yuki, Kyoko E.; Wilson, Michael D.; Rump, Patrick; Lunsing, Roelineke; Elserafy, Noha; Chung, Clara W. T.; Hewson, Stacy; Klein-Rodewald, Tanja; Calzada-Wack, Julia; Sanz-Moreno, Adrian; Kraiger, Markus; Marschall, Susan; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Dowling, James; Schulze, Andreas

研究方向

暂未获取到该数据
J
James J. Dowling
H 指数:65论文数:407被引数:1.4万
G
Gregory Costain
H 指数:39论文数:183被引数:5,759
R
Roberto Mendoza‐Londono
H 指数:41论文数:184被引数:8,815
I
Ian C. Scott
H 指数:35论文数:90被引数:5,006
M
Michael D. Wilson
H 指数:44论文数:219被引数:1.1万
H
Harsha Murthy
H 指数:5论文数:12被引数:95
R
Rosanna Weksberg
H 指数:80论文数:464被引数:2.8万
C
Christian R. Marshall
H 指数:76论文数:339被引数:3.6万
R
Rebekah Jobling
H 指数:24论文数:84被引数:2,894
A
Anna Szuto
H 指数:16论文数:56被引数:1,348