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Stephen W. Scherer

The Hospital for Sick Children

161H-index
1.1KPaper Count
12.0WCitation Count
Published Papers 429
Publication Date
Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders
err2026-08-15
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errOAAI
errBinte Zehra; Nesrin Mohamed; Richa Tambi; Muhammad Faizan; Dharana Satsangi; Alexander D. Giddey; Gilles Bru-Mercier; Ahmad Farhat; Nesreen K. Al-Jezawi; Muhammad Kumail; Nasna Nassir; Bipin Balan; Noor Kosaji; Mariam Eldesouky; Talal Al Yazeedi; Shuhd BinEshaq; Suhana Shiyas; Nidhina Vinod; Saif S. Alqassim; Awab Ahmed; Mohammad Amiruddin Hashmi; Nelson C. Soares; Marc Woodbury-Smith; Stefan S. Du Plessis; Dimitri J. Stavropoulos; Stephen W. Scherer; Alawi Alsheikh-Ali; Reem Khalil; Mauro Pessia; Maria Cristina D’Adamo; Bakhrom K. Berdiev; Mohammed Uddin
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Determinants of functional burden pleiotropy and gene dosage responses across human traits
err2026-08-14
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errOAAI
errSayeh Kazem; Kuldeep Kumar; Jane Yang; Florian Benitiere; Guillaume Huguet; Josephine Mollon; Thomas Renne; Laura M. Schultz; Emma E. M. Knowles; Worrawat Engchuan; Omar Shanta; Bhooma Thiruvahindrapuram; Jeffrey R. MacDonald; Celia M. T. Greenwood; Stephen W. Scherer; Laura Almasy; Jonathan Sebat; David C. Glahn; Guillaume Dumas; Sébastien Jacquemont
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Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada’s national platform for genome sequencing and analysis
err2026-08-12
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errOAAI
errJH Jose Hector Galvez; SM Scott Mastromatteo; KO Kieran O’Neill; RE Robert Eveleigh; HD Haig Djambazian; BT Bhooma Thiruvahindrapuram; EC Eric Chuah; SC Shu-Huang Chen; AH Amirhossein Hajianpour; ZW Zhuozhi Wang; TA Tara A. Paton; SD Sachin Desai; SP Sanjeev Pullenayegum; LH Lan He; PP Pawan Pandoh; YZ Yongjun Zhao; KM Karen Mungall; AJ Andrew J. Mungall; RF Richard F. Wintle; GB Guillaume Bourque; SW Stephen W. Scherer; SJ Steven Jones; ML Mark Lathrop; MM Meredith McLaren; JR Jiannis Ragoussis
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Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation
err2026-07-29
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PREAI
errAnthony Chen; Manav Jain; Danielle Baribeau; William T. Gibson; Matthew A. Deardorff; Fowzan S. Alkuraya; Juan Dario Ortigoza-Escobar; Graeme Nimmo; Stephen W. Scherer; Sanaa Choufani; Sarah J. Goodman; Rosanna Weksberg
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Flexible and rapid validation of structural variation using adaptive sampling
err2026-02-23
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errAida Paivandy; Felix Lenner; Jesper Eisfeldt; Tord Jonson; Hans Ehrencrona; Anna Lindstrand; Stephen W. Scherer; Lars Feuk
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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
errBrain
IF11.7
err2026-01-01
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PREAI
errMurthy, 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
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Quantum computing and the implementation of precision medicine
err2025-12-03
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errOAAI
errNasna Nassir; Mohammad Amiruddin Hashmi; Kavya Gopan Raji; Bassam Jamalalail; Andrew Maksymowsky; Stephen W. Scherer; Alawi Alsheikh-Ali; Mohammed Uddin
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UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature
err2025-11-29
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errOAAI
errMiriam S. Reuter; Nelson Bautista Salazar; Jennifer L. Howe; Ny Hoang; Ege Sarikaya; Thanuja Selvanayagam; Marla Mendes de Aquino; Astrid M. Vicente; Guiomar Oliveira; Christine M. Freitag; Bhooma Thiruvahindrapuram; Brett Trost; Stephen W. Scherer
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
err2025-10-18
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PREAI
errDmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
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Diverse short tandem repeat sequences influence gene regulation in human populations
err2025-10-03
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errOAAI
errAleksandra Mitina; Worrawat Engchuan; Brett Trost; Giovanna Pellecchia; Stephen W. Scherer; Ryan K. C. Yuen
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A roadmap for navigating child health research data sharing across Canada and beyond – building on UCAN CAN-DU
err2025-10-02
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errOAAI
errBrittany Gerber; Gillian R. Currie; Alexander Mosoiu; Alexander Bernier; Francois P. Bernier; Kym M. Boycott; Guillermo Fiebelkorn; Kristien Hens; Bartha M. Knoppers; Claire LeBlanc; Stephen W. Scherer; David Shaw; Chris Viney; Carl Virtanen; Susanne M. Benseler; Rae S. M. Yeung; Deborah A. Marshall
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The Genome Sequence of the Hemlock Woolly Adelgid, Adelges tsugae Annand 1924
err2025-10-01
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PREAI
errBrunet, Bryan M. T.; Dial, Dustin T.; Burke, Gaelen R.; von Dohlen, Carol D.; Douglas Freitas, Julia; Sanderson, Haley; Chida, Afiya R.; Jones, Samantha J.; Martin, Fergal J.; Haggerty, Leanne; Scherer, Stephen W.; Ragoussis, Ioannis; Jones, Steven J. M.; Foottit, Robert G.; Havill, Nathan P.
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Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
err2025-09-25
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errOAAI
errMaria Sundberg; Carole Shum; Erika Norabuena; Nina R. Makhortova; Cidi Chen; Lucy Yu; Emma V. Wightman; Kristina Kim; Sang Yeon Han; Jennifer Howe; Annapurna Poduri; Elizabeth D. Buttermore; Stephen W. Scherer; Mustafa Sahin
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Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
err2025-07-01
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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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Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
err2025-04-01
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PREAI
errSelvanayagam, Thanuja; Hoang, Ny; Sarikaya, Ege; Howe, Jennifer; Russell, Carolyn; Iaboni, Alana; Quirbach, Morgan; Marshall, Christian R.; Szatmari, Peter; Anagnostou, Evdokia; Vorstman, Jacob; Hartley, Dean M.; Scherer, Stephen W.
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Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
err2025-01-01
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PREAI
errScala, Marcello; Bradley, Clarrisa A.; Howe, Jennifer L.; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S.; Anagnostou, Evdokia; Macdonald, Jeffrey R.; Ko, Sangyoon Y.; Frankland, Paul W.; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F.; Lusk, Laina; Mcdonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni, V; Undiagnosed Dis Network, Undiagnosed Diseases; Douine, Emilie D.; Corona, Rosario Ivetth; Russell, Bianca E.; Nelson, Stanley F.; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W.
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Chromosome X-wide common variant association study in autism spectrum disorder
err2025-01-01
err1
PREAI
errMendes, Marla; Chen, Desmond Zeya; Engchuan, Worrawat; Leal, Thiago Peixoto; Thiruvahindrapuram, Bhooma; Trost, Brett; Howe, Jennifer L.; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Alexandrova, Roumiana; Salazar, Nelson Bautista; Mckee, Ethan A.; Rivera-Alfaro, Natalia; Lai, Meng-Chuan; Bandres-Ciga, Sara; Roshandel, Delnaz; Bradley, Clarrisa A.; Anagnostou, Evdokia; Sun, Lei; Scherer, Stephen W.
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Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
err2024-10-29
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errOAAI
errEisfeldt, Jesper; Higginbotham, Edward J.; Lenner, Felix; Howe, Jennifer; Fernandez, Bridget A.; Lindstrand, Anna; Scherer, Stephen W.; Feuk, Lars
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WHAT IS THE IMPACT OF COMPOUND HETEROZYGOUS EVENTS INVOLVING DELETIONS AND SEQUENCE-LEVEL VARIANTS IN AUTISM?
err2024-10-01
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PREAI
errEngchuan, Worrawat; Trost, Brett; de Aquino, Marla Mendes; Mager, David; Zarrei, Mehdi; Shaath, Rulan; Wanderley, Rayssa de Melo; Ali, Faraz; Safarian, Nickie; Chan, Alex; Wu, Shania; Scherer, Stephen W.; Breetvelt, Elemi; Vorstman, Jacob
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CHARACTERIZING THE GENETIC ARCHITECTURE OF AUTISM FROM A MULTI-ANCESTRY PERSPECTIVE
err2024-10-01
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PREAI
errde Aquino, Marla Mendes; Xu, Chen Yang; Engchuan, Worrawat; Trost, Brett; Thiruvahindrapuram, Bhooma; de Paiva, Thales Henrique; Zhou, Xiaopu; Tarazona-Santos, Eduardo; Pua, Victor Borda; Scherer, Stephen W.
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