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Anna Szuto

the hospital for sick children

16H-index
55Paper Count
1.3KCitation Count
Published Papers 23
Publication Date
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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
errGenome Medicine
IF11.2
err2026-03-24
err0
errOAAI
errJamie 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
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errSave
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
errEuropean Journal of Human Genetics
IF4.6
err2026-01-10
err0
PREAI
errMichael P. Mackley; Megan A. Dickson; Anna Szuto; James Anderson; David Chitayat; Robin Z. Hayeems; Roberto Mendoza-Londono; Eugene Ng; Martin Offringa; Yi Wen Wang; Linh G. Ly; Lauren Chad
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study
errGenetics in Medicine
IF6.2
err2025-10-11
err0
PREAI
errDavid 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
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Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
errGenetics in Medicine
IF6.2
err2025-10-10
err0
PREAI
errRobin Z. Hayeems; Wendy J. Ungar; Christian R. Marshall; Meredith K. Gillespie; Anna Szuto; Lijia Huang; Viji Venkataramanan; Bowen Xiao; Caitlin Chisholm; D.James Stavropoulos; Mélanie Beaulieu Bergeron; Whiwon Lee; Gregory Costain; Rebekah Jobling; Sarah Sawyer; E.Magda Price; Lynette Lau; Roberto Mendoza; Martin J. Somerville; Kym M. Boycott
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errSave
Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board
errPAEDIATRICS & CHILD HEALTH
IF2
err2025-09-01
err0
PREAI
errPan, Amy Y.; Pulsifer, Kenzie; Axford, Michelle M.; Dolman, Lena; Gallinger, Bailey; Liston, Eriskay; Stephenson, Elizabeth; Szuto, Anna; Zahavich, Laura; Costain, Gregory
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errSave
A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic Diagnosis
errGenetics in Medicine
IF6.2
err2025-08-21
err0
errOAAI
errWendy J. Ungar; Vercancy Wu; Christian R. Marshall; Jackie Hwang; Robin Z. Hayeems; Kate Tsiplova; Meredith K. Gillespie; Anna Szuto; Caitlin Chisholm; Dimitri J. Stavropoulos; Viji Venkataramanan; Bowen Xiao; Gregory Costain; Mélanie Beaulieu Bergeron; Sarah Sawyer; Lynette Lau; Lijia Huang; Roberto Mendoza-Londono; Martin J. Somerville; Kym M. Boycott
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errSave
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
errnpj Genomic Medicine
IF4.8
err2025-07-01
err0
PREAI
errHuayun Hou; Kyoko E. Yuki; Gregory Costain; Anna Szuto; Sierra Barnes; Arun K. Ramani; Alper Celik; Michael Braga; Meagan Gloven-Brown; Dimitri J. Stavropoulos; Sarah Bowdin; Ronald D. Cohn; Roberto Mendoza-Londono; Stephen W. Scherer; Michael Brudno; Christian R. Marshall; M. Stephen Meyn; Adam Shlien; James J. Dowling; Michael D. Wilson; Lianna Kyriakopoulou
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Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti
errBRITISH JOURNAL OF DERMATOLOGY
IF9.6
err2024-11-23
err0
PREAI
errPipko, Neta; Oh, Rachel Youjin; Kaplan, Aiyana; Shugar, Andrea; Szuto, Anna; Weinstein, Miriam; Yoon, Grace; Mendoza-Londono, Roberto; Pope, Elena; Young, Ted; Marshall, Christian R.; Costain, Gregory; Lara-Corrales, Irene; Wang, Yiming
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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
errGENETICS IN MEDICINE
IF6.2
err2024-02-01
err0
PREAI
errHartley, 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
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errSave
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
errGENETICS IN MEDICINE
IF6.2
err2023-12-01
err36
errOAAI
errRehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
errBRAIN
IF11.7
err2023-12-01
err2
errOAAI
errRinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S.
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errSave
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions
errCLINICAL THERAPEUTICS
IF3.6
err2023-08-01
err1
PREAI
errUngar, Wendy J.; Hayeems, Robin Z.; Marshall, Christian R.; Gillespie, Meredith K.; Szuto, Anna; Chisholm, Caitlin; Stavropoulos, D. James; Huang, Lijia; Jarinova, Olga; Wu, Vercancy; Tsiplova, Kate; Lau, Lynnette; Lee, Whiwon; Venkataramanan, Viji; Sawyer, Sarah; Mendoza-Londono, Roberto; Somerville, Martin J.; Boycott, Kym M.
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errSave
Genome-wide Sequencing Ontario (GSO): An implementation pilot to improve rare disease diagnostics
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errMarshall, Christian; Gillespie, Meredith; Szuto, Anna; Chisholm, Caitlin; Stavropoulos, James; Venkataramanan, Viji; Tsiplova, Kate; Price, Magda; Lau, Lynette; Khan, Reem; Lee, Whiwon; Huang, Lijia; Jarinova, Olga; Sawyer, Sarah; Ungar, Wendy; Mendoza, Roberto; Hayeems, Robin; Somerville, Martin; Boycott, Kym
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Clinical and genetic study of hereditary spastic paraplegia in Canada
errNEUROLOGY-GENETICS
IF3.7
err2017-02-01
err71
errOAAI
errChrestian, Nicolas; Dupre, Nicolas; Gan-Or, Ziv; Szuto, Anna; Chen, Shiyi; Venkitachalam, Anil; Brisson, Jean-Denis; Warman-Chardon, Jodi; Ahmed, Sohnee; Ashtiani, Setareh; MacDonald, Heather; Mohsin, Noreen; Mourabit-Amari, Karim; Provencher, Pierre; Boycott, Kym M.; Stavropoulos, Dimitri J.; Dion, Patrick A.; Ray, Peter N.; Suchowersky, Oksana; Rouleau, Guy A.; Yoon, Grace
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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia (vol 98, pg 1038, 2016)
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2016-06-01
err8
errOAAI
errGan-Or, Ziv; Bouslam, Naima; Birouk, Nazha; Lissouba, Alexandra; Chambers, Daniel B.; Veriepe, Julie; Androschuk, Alaura; Laurent, Sandra B.; Rochefort, Daniel; Spiegelman, Dan; Dionne-Laporte, Alexandre; Szuto, Anna; Liao, Meijiang; Figlewicz, Denise A.; Bouhouche, Ahmed; Benomar, Ali; Yahyaoui, Mohamed; Ouazzani, Reda; Yoon, Grace; Dupre, Nicolas; Suchowersky, Oksana; Bolduc, Francois V.; Parker, J. Alex; Dion, Patrick A.; Drapeau, Pierre; Rouleau, Guy A.; Bencheikh, Bouchra Ouled Amar
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errSave
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2016-05-01
err90
errOAAI
errGan-Or, Ziv; Bouslam, Naima; Birouk, Nazha; Lissouba, Alexandra; Chambers, Daniel B.; Veriepe, Julie; Androschuk, Alaura; Laurent, Sandra B.; Rochefort, Daniel; Spiegelman, Dan; Dionne-Laporte, Alexandre; Szuto, Anna; Liao, Meijiang; Figlewicz, Denise A.; Bouhouche, Ahmed; Benomar, Ali; Yahyaoui, Mohamed; Ouazzani, Reda; Yoon, Grace; Dupre, Nicolas; Suchowersky, Oksana; Bolduc, Francois V.; Parker, J. Alex; Dion, Patrick A.; Drapeau, Pierre; Rouleau, Guy A.; Bencheikh, Bouchra Ouled Amar
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Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
errNEUROBIOLOGY OF AGING
IF3.5
err2016-01-01
err63
PREAI
errLeblond, Claire S.; Gan-Or, Ziv; Spiegelman, Dan; Laurent, Sandra B.; Szuto, Anna; Hodgkinson, Alan; Dionne-Laporte, Alexandre; Provencher, Pierre; de Carvalho, Mamede; Orru, Sandro; Brunet, Denis; Bouchard, Jean-Pierre; Awadalla, Philip; Dupre, Nicolas; Dion, Patrick A.; Rouleau, Guy A.
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Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2015-07-22
err20
errOAAI
errJouan, Loubna; Bencheikh, Bouchra Ouled Amar; Daoud, Hussein; Dionne-Laporte, Alexandre; Dobrzeniecka, Sylvia; Spiegelman, Dan; Rochefort, Daniel; Hince, Pascale; Szuto, Anna; Lassonde, Maryse; Barbelanne, Marine; Tsang, William Y.; Dion, Patrick A.; Theoret, Hugo; Rouleau, Guy A.
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Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis
errHUMAN MOLECULAR GENETICS
IF3.2
err2014-10-24
err120
errOAAI
errKaneb, Hannah M.; Folkmann, Andrew W.; Belzil, Veronique V.; Jao, Li-En; Leblond, Claire S.; Girard, Simon L.; Daoud, Hussein; Noreau, Anne; Rochefort, Daniel; Hince, Pascale; Szuto, Anna; Levert, Annie; Vidal, Sabrina; Andre-Guimont, Catherine; Camu, William; Bouchard, Jean-Pierre; Dupre, Nicolas; Rouleau, Guy A.; Wente, Susan R.; Dion, Patrick A.
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Research Directions

No research directions
Co-authors
Cooperation Journals
S
Stephen W. Scherer
H-index: 161 · Papers: 1.1K
G
Guy A. Rouleau
H-index: 146 · Papers: 1.3K
M
Mark A. Tarnopolsky
H-index: 129 · Papers: 889
H
Henry Houlden
H-index: 120 · Papers: 1.5K
I
Ian D. Graham
H-index: 114 · Papers: 878
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