Deshwar Ashish R - The Hospital for Sick Children, University of Toronto

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论文共 25 篇作者统计合作学者相似作者

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Screening Rare Genetic Diagnoses for Amenability to Bespoke Antisense Oligonucleotide Therapy Development: a Retrospective Cohort Study

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 Reuter,Michael J. Szego,Anna Szuto, N=1 Collaborative,Annemieke Aartsma-Rus,Michelle M. Axford,Ashish R. Deshwar,James J. Dowling,Christian R. Marshall, Zhenya Ivakine,Matthis Synofzik,Timothy W. Yu,Gregory Costain

medrxiv（2025）

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Loss of DOT1L Disrupts Neuronal Transcription and Leads to a Neurodevelopmental Disorder

Marissa J Maroni, Melissa Barton, Katherine Lynch,Ashish R Deshwar, Philip D Campbell, Josephine Millard, Rachel Lee, Annastelle Cohen, Rili Ahmad,Alekh Paranjapye, Víctor Faundes,Gabriela M Repetto,Caoimhe McKenna, Amelle L Shillington,Chanika Phornphutkul, Hanne B Hove, Grazia M S Mancini,Rachel Schot,Tahsin Stefan Barakat, Christopher M Richmond,Julie Lauzon, Ahmed Ibrahim Elsayed Ibrahim,Caroline Nava,Delphine Héron, Minke M A van Aalst, Slavena Atemin, Mila Sleptsova,Iliyana Aleksandrova,Albena Todorova, Debra L Watkins, Mariya A Kozenko,Daniel Natera-de Benito, Carlos Ortez, Berta Estevez-Arias,François Lecoquierre,Kévin Cassinari,Anne-Marie Guerrot,Jonathan Levy,Xenia Latypova,Alain Verloes,A Micheil Innes, Xiao-Ru Yang,Siddharth Banka,Katharina Vill, Maureen Jacob, Michael Kruer, Peter Skidmore, Carolina I Galaz-Montoya,Somayeh Bakhtiari, Jessica L Mester,Michael Granato,Karim-Jean Armache, Gregory Costain,Erica Korb

Brain a journal of neurology (2025)

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Novel Epilepsy Phenotype Associated with a Pathogenic GABRG2 Variant

Raid Hommady, Vivek Pai, Fay Zhai,Ashish R Deshwar,Robyn Whitney,Suvasini Sharma,Puneet Jain

Seizure（2025）

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Loss of DOT1L Function Disrupts Neuronal Transcription, Animal Behavior, and Leads to a Novel Neurodevelopmental Disorder

Marissa J Maroni, Melissa Barton, Katherine Lynch,Ashish R Deshwar, Philip Campbell, Josephine Millard,Rachel Lee, Annastelle Cohen,Alekh Paranjapye,Víctor Faundes,Gabriela M Repetto,Caoimhe McKenna, Amelle L Shillington,Chanika Phornphutkul,Grazia Ms Mancini,Rachel Schot,Tahsin Stefan Barakat,Christopher M Richmond,Julie Lauzon, Ahmed Ibrahim Elsayed Ibrahim,Daniel Natera-de Benito,Carlos Ortez,Berta Estevez-Arias,François Lecoquierre,Kévin Cassinari,Anne-Marie Guerrot,Jonathan Levy,Xenia Latypova,Alain Verloes,A Micheil Innes,Xiao-Ru Yang,Siddharth Banka, Katharina Vill,Maureen Jacob,Michael Kruer, Peter Skidmore, Carolina I Galaz-Montoya,Somayeh Bakhtiari,Jessica L Mester,Michael Granato,Karim-Jean Armache,Gregory Costain,Erica Korb

medRxiv the preprint server for health sciences（2024）

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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

Taila Hartley,Deborah Marshall,Meryl Acker,Katharine Fooks,Meredith K. Gillespie,E. Magda Price,Ian D. Graham,Alexandre White-Brown, Layla MacKay,Stella K. Macdonald,Lauren Brady, Angela Y. Hui, Joseph D. Andrews, Ashfia Chowdhury,Erika Wall, Elisabeth Soubry,Grace U. Ediae,Samantha Rojas,Daniel Assamad,David Dyment,Mark Tarnopolsky,Sarah L. Sawyer,Caitlin Chisholm,Gabrielle Lemire,Kimberly Amburgey,Joanna Lazier,Roberto Mendoza-Londono,James J. Dowling,Tugce B. Balci,Christine M. Armour,Priya T. Bhola,Gregory Costain,Lucie Dupuis,Melissa Carter,Lauren Badalato,Julie Richer, Christie Boswell-Patterson,Peter Kannu,Dawn Cordeiro,Jodi Warman-Chardon,Gail Graham,Victoria Mok Siu,Cheryl Cytrynbaum,Alison Rusnak,Ritu B. Aul,Grace Yoon,Hernan Gonorazky,Vanda McNiven,Saadet Mercimek-Andrews,Andrea Guerin,Ashish R. Deshwar,Ashish Marwaha,Rosanna Weksberg,Natalya Karp, Maggie Campbell, Sarah Al-Qattan,Andrew Y. Shuen,Michal Inbar-Feigenberg,Ronald Cohn,Anna Szuto,Cara Inglese, Myriam Poirier,Lauren Chad,Beth Potter,Kym M. Boycott,Robin Hayeems

Genetics in Medicine（2023）

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SMPD4 Regulates Mitotic Nuclear Envelope Dynamics and Its Loss Causes Microcephaly and Diabetes

BRAINno. 8 (2023): 3528-3541

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Trio RNA Sequencing in a Cohort of Medically Complex Children

Ashish R. Deshwar,Kyoko E. Yuki, Huayu Hou,Yijing Liang,Tayyaba Khan,Alper Celik,Arun Ramani, Robert Mendoza-Londono, Christian R. Marshall,Michael Brudno,Adam Shlien,M. Stephen Meyn,Robin Z. Hayeems,Brandon J. McKinlay, Panagiot Klentrou,Michael D. Wilson, Liann Kyriakopoulou,Gregory Costain,James J. Dowling

American journal of botany（2023）

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Loss of Mtm1 Causes Cholestatic Liver Disease in a Model of X-linked Myotubular Myopathy

Sophie Karolczak,Ashish R. Deshwar, Evangelina Aristegui,Binita M. Kamath,Michael W. Lawlor,Gaia Andreoletti,Jonathan Volpatti,Jillian L. Ellis,Chunyue Yin,James J. Dowling

Journal of Clinical Investigation（2023）

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Rare De Novo Gain-of-function Missense Variants in DOT1L Are Associated with Developmental Delay and Congenital Anomalies

AMERICAN JOURNAL OF HUMAN GENETICSno. 11 (2023): 1919-1937

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