Biography:Stephen W. Scherer

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Short description: Canadian scientist (born 1964)

Stephen W. Scherer
Born
Stephen Wayne Scherer

(1964-01-05) January 5, 1964 (age 60)
Windsor, Ontario, Canada
NationalityCanadian
Alma materUniversity of Waterloo (B.Sc.)
University of Toronto (M.Sc., Ph.D.)
Spouse(s)
Jo-Anne Herbrick (m. 2002)
Children2

Stephen Wayne "Steve" Scherer (born January 5, 1964) is a Canadian scientist who currently serves as the Chief of Research at The Hospital for Sick Children (SickKids) and distinguished University Professor at the University of Toronto.[1] He obtained his PhD at the University of Toronto under Professor Lap-chee Tsui. Together they founded Canada's first human genome centre, the Centre for Applied Genomics (TCAG). He is a Senior Fellow of Massey College at the University of Toronto.[2] In 2014, he was named an esteemed Clarivate (previously Thomson Reuters) Citation laureate in Physiology or Medicine for the “Discovery of large-scale gene copy number variation and its association with specific diseases.”[3]

Background

Scherer was born in Windsor, Ontario, and attended Riverside High School. He played competitive hockey and baseball winning provincial and national championships.[4] He completed his Honours Science Degree at the University of Waterloo, Master of Science and Doctor of Philosophy in the Faculty of Medicine at the University of Toronto.[5]

Research

Scherer has co-published over 700 scholarly papers and book chapters.[6] He has been on the Thomson Reuters Highly Cited Researcher and World’s Most Influential Scientific Minds list (2015-2018).[7][8] His Google Scholar h-index=156; 123,046 citations.[9] In 2023, with Ronald D. Cohn and Ada Hamosh, he edited Thompson & Thompson Genetics and Genomics in Medicine, 9th Edition, Elsevier Publishers.[10]

Chromosome mapping  

From 1988 to 2003 with Lap-Chee Tsui, Scherer led studies of human chromosome 7, in particular in the mapping phase of the Human Genome Project.[11][12][13] Through collaborative research, genes involved in holoprosencephaly,[14][15] renal carcinoma,[16] Williams syndrome,[17][18] sacral agenesis,[19] citrullinemia,[20] renal tubular acidosis[21] and many others were identified. His group also discovered the largest gene in the genome, which was later found to be involved in autism.[22] The sum of this work, including contributions from scientists worldwide and J. Craig Venter's Celera Genomics, generated the first published description of human chromosome 7.[23] In other chromosome studies with Berge Minassian, disease genes causing deadly forms of epilepsy were identified.[24][25][26]

Discovery of frequent gene copy number variation (CNV) events

Scherer's research contributed to the initial description of genome-wide copy number variations (CNVs) of genes, including defining CNV as a highly abundant form of human genetic variation.[27] Previous theory held that humans were 99.9% DNA identical with the small difference in variation almost entirely accounted for by some 3 million single nucleotide polymorphisms (SNPs) per genome.[28][29][30] Larger genomic CNV changes involving losses or gains of thousands or millions of nucleotides encompassing one or several genes were thought to be exceptionally rare, and almost always involved in disease.[31] Scherer's observations of frequent CNV events found in the genomes of all cells in every individual, co-published with Canadian-Korean scientist Charles Lee working at Harvard in 2004,[32] opened a new window for studies of natural genetic variation, evolution and disease. Scherer founded the Database of Genomic Variants, a public database utilized by clinical laboratories around the world to interpret CNV and structural variation data in diagnostics.[33] Scherer, Lee and collaborators led by Matthew Hurles at the Wellcome Trust Sanger Institute, as well as scientists at the University of Tokyo and Affymetrix Corp then generated the first CNV maps of human DNA revealing the structural properties, mechanisms of formation, and population genetics of this previously unrecognized ubiquitous form of natural variation.[34][35] These studies were also the first to discover that CNVs number in the thousands per genome and encompass at least ten times more DNA letters than SNPs, revealing a 'dynamic patchwork' structure of chromosomes. These findings were further substantiated through work with J. Craig Venter's team,[36] which contributed to the completion of the first genome sequence of an individual.[37]

Autism-associated CNVs and genes

From 2003-2010, Scherer and collaborators went on to discover numerous disease-associated CNVs, and the corresponding disease-susceptibility genes in upwards of 10% of individuals with autism spectrum disorder.[38][39][40] These discoveries have led to broadly available tests facilitating early diagnostic information for autism.[41][42][43][44][45][46][47][48][49][50][51][52]

Similar discoveries to those made in autism were also found in schizophrenia, intellectual disability and other brain disorders (with often the same genes/CNVs involved), thereby establishing a new paradigm to explain how complex human behavioral conditions can have a genetic (biological) basis. With Jacob Vorstman, Christian Schaaf and colleagues, Scherer developed the EAGLE (Evaluation of Autism Gene Link Evidence), which is a highly utilized resource in diagnostic testing for autism.[53]

Determining the genome architecture underlying autism

Scherer has led the Autism Speaks MSSNG project,[54] which uses whole genome sequencing to decode the DNA of thousands of families having a diagnosis of autism. The research underpinned the identification of >100 genes and CNVs involved in autism providing explanations of why autism has occurred for approximately 5-20% of families.[55][56][57][58][59][60][61] These discoveries have enabled faster and more precise diagnoses, early intervention and genetic counselling and have led to the identification of new molecular pathways for the development of therapeutics.[62][63][64][65] In 2022, Scherer’s team published a comprehensive description of the genomic architecture in autism using the largest collection of whole genome sequencing data available to facilitate research studies in autism.[66]

Genome science, data and public policy infrastructure

Scherer co-founded the TCAG genome centre at SickKids in 1998. In 2015 with Marco Marra and Steven Jones at the University of British Columbia and Mark Lathrop at McGill University, the three major Canadian genome centres came together as CGEn, which serves as a Major Science Initiative of the Canada Foundation of Innovation.[67] For the 150th anniversary of Canada (2017), he started the CanSeq150 Project to sequence 150 genomes of species most relevant to Canada’s culture/environment/conservation; notable species completed include many of the “canadensis” members such as the Canadian beaver and Canadian wolverine.[68][69][70] Canseq 150 is now part of the Canadian Biogenome Project, an international effort aiming to sequence the genetic material for all complex life on earth.[71] CGEn also led the Covid-19 host genome sequencing project, which completed 10,000 Canadian genomes in April 2022.[72]

Scherer and colleagues launched the Personal Genome Project Canada in 2007, a resource of data that supports evaluation of whole genome sequencing in medicine and public health.[73][74] These experiences along Scherer’s advocacy with the Canadian Coalition for Genetic Fairness helped to establish Canada’s Genetic Non-Discrimination Act,[75] which passed into law on May 4, 2017.

Media and special presentations

Scherer’s discoveries have appeared in the Globe and Mail, The New York Times , The Washington Post , Playboy, The Independent, Time (magazine) , Newsweek, Scientific American and many other periodicals. He has appeared on the Canadian Broadcasting Corporation (CBC), PBS Newshour, TVO Agenda, and other national TV, radio, and media, including Quirks and Quarks, explaining scientific discoveries.[76][77][78][79][80][81][82][83][84] His research was featured in Roger Martin's book The Design of Business,[85] Bob Wright’s autobiography the Wright Stuff: from NBC to Autism Speaks,[86] Steve Silberman’s NeuroTribes: The Legacy of Autism and the Future of Neurodiversity,[87] amongst others. In 2013, he spoke at the Canadian Broadcast Glenn Gould Studio: ‘Cracking the Autism Enigma’,[88] and in 2015 was a special guest speaker at the United Nations, New York for World Autism Awareness Day.[89] He has been featured the Genome Giants series of interviews.[90] He served as the scientific consultant for two documentaries, the MediCinema Film creation Cracking the Code, the continuing saga of genetics,[91] and the Gemini Award-winning documentary, After Darwin by GalaFilms-Telefilm Canada.[92] He also hosts the SickKids Discovery Dialogues which takes attendees behind the scenes of research to discuss their research and the path to scientific discovery.[93]

Honours

  • Canada's Top 40 under 40 Award (1999)[94]
  • Scholar of the Howard Hughes Medical Institute (2002)[95]
  • Genetics Society of Canada Scientist Award (2002)
  • Canadian Institute for Advanced Research Explorer Award (2002)[96]
  • Steacie Prize in the Natural Sciences (2003)[97]
  • Fellow of the Royal Society of Canada (2007)[98]
  • Inaugural Distinguished Science Alumni Award-University of Waterloo (2007)[99]
  • Premier’s Summit Award for Medical Research (2008)[100]
  • Fellow of the American Association for the Advancement of Science (AAAS) (2011)[101]
  • International Significant Sigma Chi Award (2011)[102]
  • Queen Elizabeth II Diamond Jubilee Medal for unique contributions to Canada (2013)[103]
  • Clarivate (previously Thomson-Reuters) Citation Laureate in Physiology or Medicine (2014) (2020)[104][105][106]
  • Maclean's Magazine 50 Most Important People in Canada (2014)[107]
  • Killam Prize in Health Sciences (2019)[108]
  • Distinguished Fellow of the International Society for Autism Research (2021)[109]
  • Northbridge Chair in Paediatric Research at SickKids and the University of Toronto[110]
  • GlaxoSmithKline-CIHR Endowed Chair in Genetics and Genomics from SickKids and the University of Toronto[111]

Scherer holds three Honorary Doctorates from the University of Windsor (2001), the University of Waterloo (2017) and Western University (2018).[112][113][114][115]

References

  1. ↑ "Complete List of University Professors – Division of the Vice-President & Provost" (in en). https://www.provost.utoronto.ca/awards-funding/university-professors/complete-list-university-professors/. 
  2. ↑ "Massey News 2014-15 by Massey College - Issuu" (in en). 2015-10-23. https://issuu.com/masseycollege/docs/massey-news-2014-2015-v7-web-linked. 
  3. ↑ "Thomson Reuters Predicts 2014 Nobel Laureates, Researchers Forecast for Nobel Recognition". www.prnewswire.com (Press release). Reuters. Retrieved 2023-12-22.
  4. ↑ Weepers, Bob; Fame, Windsor/Essex County Sports Hall of (2001) (in en). We are the Champions : Canadian Championship Sports Teams, Windsor, Ontario, 20th Century. Windsor/Essex County Sports Hall of Fame and Museum. ISBN 978-0-9687666-1-3. https://books.google.com/books?id=WnEfPwAACAAJ. 
  5. ↑ "Stephen Scherer – Division of the Vice-President & Provost" (in en). https://www.provost.utoronto.ca/profile/stephen-scherer/. 
  6. ↑ Stephen W. Scherer. The National Library of Medicine.
  7. ↑ "Hall of Citation Laureates - 2023" (in en). https://clarivate.com/citation-laureates/hall-of-citation-laureates/. 
  8. ↑ The World’s Most Influential Scientific Minds list, 2015 (PDF). Thomas Reuters.
  9. ↑ "Scherer, Stephen W.". https://scholar.google.ca/citations?user=NKTqN4IAAAAJ&hl=en. 
  10. ↑ Cohn, Ronald; Scherer, Stephen W.; Hamosh, Ada (2023). Genetics and Genomics in Medicine (9th ed.). Thompson & Thompson. ISBN 9780323547628. 
  11. ↑ The treasures of chromosome 7. Autumn 2001. The University of Toronto Magazine. 
  12. ↑ Walking the jungles and deserts of chromosome 7. September 2003. Howard Hughes Medical Institute Bulletin.
  13. ↑ Milestones in Canadian Health Research; Decoding life. 2010. Canadian Institutes of Health Research.
  14. ↑ Belloni, E.; Muenke, M.; Roessler, E.; Traverse, G.; Siegel-Bartelt, J.; Frumkin, A.; Mitchell, H. F.; Donis-Keller, H. et al. (1996-11-01). "Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly". Nature Genetics 14 (3): 353–356. doi:10.1038/ng1196-353. ISSN 1546-1718. PMID 8896571. https://www.nature.com/articles/ng1196-353. 
  15. ↑ Roessler, Erich; Belloni, Elena; Gaudenz, Karin; Jay, Philippe; Berta, Philippe; Scherer, Stephen W.; Tsui, Lap-Chee; Muenke, Maximilian (1996-11-01). "Mutations in the human Sonic Hedgehog gene cause holoprosencephaly". Nature Genetics 14 (3): 357–360. doi:10.1038/ng1196-357. ISSN 1546-1718. PMID 8896572. https://www.nature.com/articles/ng1196-357. 
  16. ↑ Schmidt, Laura; Duh, Fuh-Mei; Chen, Fan; Kishida, Takeshi; Glenn, Gladys; Choyke, Peter; Scherer, Stephen W.; Zhuang, Zhenping et al. (1997-05-01). "Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas" (in en). Nature Genetics 16 (1): 68–73. doi:10.1038/ng0597-68. ISSN 1546-1718. PMID 9140397. https://www.nature.com/articles/ng0597-68. 
  17. ↑ Osborne, Lucy R.; Li, Martin; Pober, Barbara; Chitayat, David; Bodurtha, Joann; Mandel, Ariane; Costa, Teresa; Grebe, Theresa et al. (2001-10-29). "A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome". Nature Genetics 29 (3): 321–325. doi:10.1038/ng753. ISSN 1061-4036. PMID 11685205. 
  18. ↑ Somerville, Martin J.; Mervis, Carolyn B.; Young, Edwin J.; Seo, Eul-Ju; del Campo, Miguel; Bamforth, Stephen; Peregrine, Ella; Loo, Wayne et al. (2005-10-20). "Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus". New England Journal of Medicine 353 (16): 1694–1701. doi:10.1056/NEJMoa051962. ISSN 0028-4793. PMID 16236740. 
  19. ↑ Ross, Alison J.; Ruiz-Perez, Victor; Wang, Yiming; Hagan, Donna-Marie; Scherer, Steve; Lynch, Sally A.; Lindsay, Susan; Custard, Emily et al. (1998-12-01). "A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis". Nature Genetics 20 (4): 358–361. doi:10.1038/3828. ISSN 1546-1718. https://www.nature.com/articles/ng1298_358. 
  20. ↑ Kobayashi, Keiko; Sinasac, David S.; Iijima, Mikio; Boright, Andrew P.; Begum, Laila; Lee, Jeffrey R.; Yasuda, Tomotsugu; Ikeda, Sayaka et al. (June 1999). "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein". Nature Genetics 22 (2): 159–163. doi:10.1038/9667. ISSN 1546-1718. PMID 10369257. https://www.nature.com/articles/ng0699_159. 
  21. ↑ Smith, Annabel N.; Skaug, Jennifer; Choate, Keith A.; Nayir, Ahmet; Bakkaloglu, Aysin; Ozen, Seza; Hulton, Sally A.; Sanjad, Sami A. et al. (2000-09-01). "Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing". Nature Genetics 26 (1): 71–75. doi:10.1038/79208. ISSN 1546-1718. PMID 10973252. https://www.nature.com/articles/ng0900_71. 
  22. ↑ Canadian scientists discover giant gene. February 10th, 2001. Globe and Mail.
  23. ↑ Scherer, Stephen W.; Cheung, Joseph; MacDonald, Jeffrey R.; Osborne, Lucy R.; Nakabayashi, Kazuhiko; Herbrick, Jo-Anne; Carson, Andrew R.; Parker-Katiraee, Layla et al. (2003-05-02). "Human Chromosome 7: DNA Sequence and Biology" (in en). Science 300 (5620): 767–772. doi:10.1126/science.1083423. ISSN 0036-8075. PMID 12690205. Bibcode: 2003Sci...300..767S. 
  24. ↑ Minassian, Berge A.; Lee, Jeffrey R.; Herbrick, Jo-Anne; Huizenga, Jack; Soder, Sylvia; Mungall, Andrew J.; Dunham, Ian; Gardner, Rebecca et al. (1998-10-01). "Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy". Nature Genetics 20 (2): 171–174. doi:10.1038/2470. ISSN 1546-1718. PMID 9771710. https://www.nature.com/articles/ng1098_171. 
  25. ↑ Chan, Elayne M.; Young, Edwin J.; Ianzano, Leonarda; Munteanu, Iulia; Zhao, Xiaochu; Christopoulos, Constantine C.; Avanzini, Giuliano; Elia, Maurizio et al. (2003-09-07). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nature Genetics 35 (2): 125–127. doi:10.1038/ng1238. ISSN 1546-1718. https://www.nature.com/articles/ng1238. 
  26. ↑ Gene hunters race against Lafora curse. September 27th, 2003. National Post
  27. ↑ Iafrate, A. John; Feuk, Lars; Rivera, Miguel N.; Listewnik, Marc L.; Donahoe, Patricia K.; Qi, Ying; Scherer, Stephen W.; Lee, Charles (2004-08-01). "Detection of large-scale variation in the human genome" (in en). Nature Genetics 36 (9): 949–951. doi:10.1038/ng1416. ISSN 1546-1718. PMID 15286789. https://www.nature.com/articles/ng1416. 
  28. ↑ Patchwork people. October 20th, 2005. Nature.
  29. ↑ Carolyn Abraham (November 23, 2006). "Study turns human genetics on its head". The Globe and Mail. https://www.theglobeandmail.com/life/study-turns-human-genetics-on-its-head/article1110622/?page=all. 
  30. ↑ Steve Olson (November 2007). "The changing face of DNA". Howard Hughes Medical Institute Bulletin. http://www.hhmi.org/sites/default/files/Bulletin/2007/November/nov2007_fulltext.pdf. 
  31. ↑ DNA deletions and duplications help determine health. September 7th, 2007. Science.
  32. ↑ Nature. From the archives (2004): Large-scale structural variation in the human genome. (27 April 2017).
  33. ↑ "Database of Genomic Variants". http://dgv.tcag.ca/dgv/app/home. 
  34. ↑ Redon, Richard; Ishikawa, Shumpei; Fitch, Karen R.; Feuk, Lars; Perry, George H.; Andrews, T. Daniel; Fiegler, Heike; Shapero, Michael H. et al. (2006-11-23). "Global variation in copy number in the human genome". Nature 444 (7118): 444–454. doi:10.1038/nature05329. ISSN 1476-4687. PMID 17122850. PMC 2669898. Bibcode: 2006Natur.444..444R. https://www.nature.com/articles/nature05329. 
  35. ↑ Conrad, Donald F.; Pinto, Dalila; Redon, Richard; Feuk, Lars; Gokcumen, Omer; Zhang, Yujun; Aerts, Jan; Andrews, T. Daniel et al. (2009-10-07). "Origins and functional impact of copy number variation in the human genome". Nature 464 (7289): 704–712. doi:10.1038/nature08516. ISSN 1476-4687. PMID 19812545. 
  36. ↑ Khaja, Razi; Zhang, Junjun; MacDonald, Jeffrey R.; He, Yongshu; Joseph-George, Ann M.; Wei, John; Rafiq, Muhammad A.; Qian, Cheng et al. (2006-11-22). "Genome assembly comparison identifies structural variants in the human genome". Nature Genetics 38 (12): 1413–1418. doi:10.1038/ng1921. ISSN 1546-1718. PMID 17115057. 
  37. ↑ Levy, Samuel; Sutton, Granger; Ng, Pauline C.; Feuk, Lars; Halpern, Aaron L.; Walenz, Brian P.; Axelrod, Nelson; Huang, Jiaqi et al. (2007-09-04). "The Diploid Genome Sequence of an Individual Human" (in en). PLOS Biology 5 (10): e254. doi:10.1371/journal.pbio.0050254. ISSN 1545-7885. PMID 17803354. 
  38. ↑ Szatmari, Peter; Paterson, Andrew D; Zwaigenbaum, Lonnie; Roberts, Wendy; Brian, Jessica; Liu, Xiao-Qing; Vincent, John B; Skaug, Jennifer L et al. (2007-02-18). "Mapping autism risk loci using genetic linkage and chromosomal rearrangements". Nature Genetics 39 (3): 319–328. doi:10.1038/ng1985. ISSN 1546-1718. PMID 17322880. 
  39. ↑ Marshall, Christian R.; Noor, Abdul; Vincent, John B.; Lionel, Anath C.; Feuk, Lars; Skaug, Jennifer; Shago, Mary; Moessner, Rainald et al. (2008-01-17). "Structural variation of chromosomes in autism spectrum disorder". American Journal of Human Genetics 82 (2): 477–488. doi:10.1016/j.ajhg.2007.12.009. ISSN 1537-6605. PMID 18252227. 
  40. ↑ Pinto, Dalila; Pagnamenta, Alistair T.; Klei, Lambertus; Anney, Richard; Merico, Daniele; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R. et al. (2010-07-09). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature 466 (7304): 368–372. doi:10.1038/nature09146. ISSN 1476-4687. PMID 20531469. Bibcode: 2010Natur.466..368P. https://www.nature.com/articles/nature09146. 
  41. ↑ Berkel, Simone; Marshall, Christian R.; Weiss, Birgit; Howe, Jennifer; Roeth, Ralph; Moog, Ute; Endris, Volker; Roberts, Wendy et al. (2010-05-16). "Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation". Nature Genetics 42 (6): 489–491. doi:10.1038/ng.589. ISSN 1546-1718. PMID 20473310. https://www.nature.com/articles/ng.589. 
  42. ↑ Noor, Abdul; Whibley, Annabel; Marshall, Christian R.; Gianakopoulos, Peter J.; Piton, Amelie; Carson, Andrew R.; Orlic-Milacic, Marija; Lionel, Anath C. et al. (2010-09-15). "Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability" (in en). Science Translational Medicine 2 (49): 49ra68. doi:10.1126/scitranslmed.3001267. ISSN 1946-6234. PMID 20844286. 
  43. ↑ Vaags, Andrea K.; Lionel, Anath C.; Sato, Daisuke; Goodenberger, McKinsey; Stein, Quinn P.; Curran, Sarah; Ogilvie, Caroline; Ahn, Joo Wook et al. (2012-01-13). "Rare deletions at the neurexin 3 locus in autism spectrum disorder". American Journal of Human Genetics 90 (1): 133–141. doi:10.1016/j.ajhg.2011.11.025. ISSN 1537-6605. PMID 22209245. 
  44. ↑ Sato, Daisuke; Lionel, Anath C.; Leblond, Claire S.; Prasad, Aparna; Pinto, Dalila; Walker, Susan; O'Connor, Irene; Russell, Carolyn et al. (2012-05-04). "SHANK1 Deletions in Males with Autism Spectrum Disorder". American Journal of Human Genetics 90 (5): 879–887. doi:10.1016/j.ajhg.2012.03.017. ISSN 1537-6605. PMID 22503632. 
  45. ↑ Science City: Racing to solve the puzzle of autism. January 5th, 2008. Globe and Mail.
  46. ↑ Canadian breakthrough offers hope on autism. February 19th, 2007. Globe and Mail
  47. ↑ Solving puzzle of son's autism soothes family. January 18th, 2008. Toronto Star
  48. ↑ Researchers discover genetic patterns of autism. June 9th, 2010. Time Magazine
  49. ↑ Genetic finding paves way for controversial autism testing. June 10th, 2010. Globe and Mail
  50. ↑ Autism genetics: A breakthrough that sheds light on a medical mystery. June 10th, 2010. The Independent
  51. ↑ Understanding Autism. Spring 2011. University of Toronto Magazine
  52. ↑ Special Series: Autism's new frontiers. February 17th, 2013. Ottawa Citizen
  53. ↑ "SFARI | SFARI Gene to introduce EAGLE, a new ASD-relevance gene scoring system" (in en-US). 2021-12-10. https://www.sfari.org/2021/12/10/sfari-gene-to-introduce-eagle-a-new-asd-relevance-gene-scoring-system/. 
  54. ↑ "MSSNG". https://research.mss.ng/. 
  55. ↑ Jiang, Yong-hui; Yuen, Ryan K. C.; Jin, Xin; Wang, Mingbang; Chen, Nong; Wu, Xueli; Ju, Jia; Mei, Junpu et al. (2013-08-08). "Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing". American Journal of Human Genetics 93 (2): 249–263. doi:10.1016/j.ajhg.2013.06.012. ISSN 1537-6605. PMID 23849776. 
  56. ↑ Pinto, Dalila; Delaby, Elsa; Merico, Daniele; Barbosa, Mafalda; Merikangas, Alison; Klei, Lambertus; Thiruvahindrapuram, Bhooma; Xu, Xiao et al. (2014-05-01). "Convergence of genes and cellular pathways dysregulated in autism spectrum disorders". American Journal of Human Genetics 94 (5): 677–694. doi:10.1016/j.ajhg.2014.03.018. ISSN 1537-6605. PMID 24768552. 
  57. ↑ Uddin, Mohammed; Tammimies, Kristiina; Pellecchia, Giovanna; Alipanahi, Babak; Hu, Pingzhao; Wang, Zhuozhi; Pinto, Dalila; Lau, Lynette et al. (2014). "Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder". Nature Genetics 46 (7): 742–747. doi:10.1038/ng.2980. ISSN 1546-1718. PMID 24859339. https://pubmed.ncbi.nlm.nih.gov/24859339/. 
  58. ↑ Tammimies, Kristiina; Marshall, Christian R.; Walker, Susan; Kaur, Gaganjot; Thiruvahindrapuram, Bhooma; Lionel, Anath C.; Yuen, Ryan K. C.; Uddin, Mohammed et al. (2015-09-01). "Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder". JAMA 314 (9): 895–903. doi:10.1001/jama.2015.10078. ISSN 1538-3598. PMID 26325558. https://pubmed.ncbi.nlm.nih.gov/26325558/. 
  59. ↑ Yuen, Ryan K. C.; Thiruvahindrapuram, Bhooma; Merico, Daniele; Walker, Susan; Tammimies, Kristiina; Hoang, Ny; Chrysler, Christina; Nalpathamkalam, Thomas et al. (2015). "Whole-genome sequencing of quartet families with autism spectrum disorder". Nature Medicine 21 (2): 185–191. doi:10.1038/nm.3792. ISSN 1546-170X. PMID 25621899. https://pubmed.ncbi.nlm.nih.gov/25621899/. 
  60. ↑ C Yuen, Ryan K.; Merico, Daniele; Bookman, Matt; L Howe, Jennifer; Thiruvahindrapuram, Bhooma; Patel, Rohan V.; Whitney, Joe; Deflaux, Nicole et al. (2017). "Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder". Nature Neuroscience 20 (4): 602–611. doi:10.1038/nn.4524. ISSN 1546-1726. PMID 28263302. 
  61. ↑ Trost, Brett; Engchuan, Worrawat; Nguyen, Charlotte M.; Thiruvahindrapuram, Bhooma; Dolzhenko, Egor; Backstrom, Ian; Mirceta, Mila; Mojarad, Bahareh A. et al. (2020). "Genome-wide detection of tandem DNA repeats that are expanded in autism". Nature 586 (7827): 80–86. doi:10.1038/s41586-020-2579-z. ISSN 1476-4687. PMID 32717741. Bibcode: 2020Natur.586...80T. 
  62. ↑ Cook, Edwin H.; Scherer, Stephen W. (2008-10-16). "Copy-number variations associated with neuropsychiatric conditions". Nature 455 (7215): 919–923. doi:10.1038/nature07458. ISSN 1476-4687. PMID 18923514. Bibcode: 2008Natur.455..919C. https://pubmed.ncbi.nlm.nih.gov/18923514/. 
  63. ↑ Marshall, Christian R.; Scherer, Stephen W. (2012). "Detection and characterization of copy number variation in autism spectrum disorder". Genomic Structural Variants. Methods in Molecular Biology (Clifton, N.J.). 838. pp. 115–135. doi:10.1007/978-1-61779-507-7_5. ISBN 978-1-61779-506-0. https://pubmed.ncbi.nlm.nih.gov/22228009/. 
  64. ↑ Anagnostou, Evdokia; Zwaigenbaum, Lonnie; Szatmari, Peter; Fombonne, Eric; Fernandez, Bridget A.; Woodbury-Smith, Marc; Brian, Jessica; Bryson, Susan et al. (2014). "Autism spectrum disorder: advances in evidence-based practice". Canadian Medical Association Journal 186 (7): 509–519. doi:10.1503/cmaj.121756. ISSN 1488-2329. PMID 24418986. 
  65. ↑ Vorstman, Jacob; Scherer, Stephen W. (2021). "What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders". Current Opinion in Genetics & Development 68: 18–25. doi:10.1016/j.gde.2020.12.017. ISSN 1879-0380. PMID 33454514. https://pubmed.ncbi.nlm.nih.gov/33454514/. 
  66. ↑ Trost, Brett; Thiruvahindrapuram, Bhooma; Chan, Ada J. S.; Engchuan, Worrawat; Higginbotham, Edward J.; Howe, Jennifer L.; Loureiro, Livia O.; Reuter, Miriam S. et al. (2022-11-10). "Genomic architecture of autism from comprehensive whole-genome sequence annotation". Cell 185 (23): 4409–4427.e18. doi:10.1016/j.cell.2022.10.009. ISSN 1097-4172. PMID 36368308. 
  67. ↑ Warner, Hillete (2022-08-19). "CGEn receives $48.9 million in federal funding through the Canada Foundation for Innovation's Major Science Initiatives Fund". https://www.cgen.ca/cgen-receives-48-9-million-in-federal-funding-through-the-canada-foundation-for-innovations-major-science-initiatives-fund%EF%BF%BC. 
  68. ↑ "CanSeq150" (in en-US). https://www.cgen.ca/canseq150-overview. 
  69. ↑ (in en) SickKids researchers sequence genome of the Canadian beaver, https://www.youtube.com/watch?v=UZ8wmutLRGY, retrieved 2023-12-27 
  70. ↑ "Scientists map genome of beaver as gift for Canada's 150th birthday" (in en-CA). The Globe and Mail. 2017-01-13. https://www.theglobeandmail.com/news/national/scientists-map-genome-of-beaver-as-gift-for-canadas-150th-birthday/article33617869/. 
  71. ↑ "Canada BioGenome Project" (in en-US). https://www.cgen.ca/biogenome-project. 
  72. ↑ "Program Overview" (in en-US). https://www.cgen.ca/project-overview. 
  73. ↑ Reuter, Miriam S.; Walker, Susan; Thiruvahindrapuram, Bhooma; Whitney, Joe; Cohn, Iris; Sondheimer, Neal; Yuen, Ryan K. C.; Trost, Brett et al. (2018-02-05). "The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants". Canadian Medical Association Journal 190 (5): E126–E136. doi:10.1503/cmaj.171151. ISSN 0820-3946. PMID 29431110. 
  74. ↑ "Cracks in the code: Why mapping your DNA may be less reliable than you think" (in en-CA). The Globe and Mail. 2018-02-03. https://www.theglobeandmail.com/technology/science/genetic-testing/article37829424/. 
  75. ↑ Branch, Legislative Services (2017-05-04). "Consolidated federal laws of canada, Genetic Non-Discrimination Act". https://laws-lois.justice.gc.ca/eng/acts/G-2.5/index.html. 
  76. ↑ (in en) CBC Autism Research Story January 26 2015, https://www.youtube.com/watch?v=QjXrnhMwKjc, retrieved 2023-12-27 
  77. ↑ "This search engine could help unlock autism's secrets" (in en-us). 2015-10-21. https://www.pbs.org/newshour/show/autism. 
  78. ↑ (in en) Stephen Scherer: DNA Testing for Autism, https://www.youtube.com/watch?v=tbUFMf2hHKU, retrieved 2023-12-27 
  79. ↑ The human genome, and Pandora's box. Counterpoint: an interview with Margaret Wente. June 29th, 2000. Globe and Mail.
  80. ↑ Scherer, SW. By knowing our genomes, we will begin to truly know ourselves. Commentary August 7th, 2007. Globe and Mail.
  81. ↑ Scherer, SW. Perfect genomics. Question of the Year 2007. Nature Genetics.
  82. ↑ Scherer, SW. 25 great ideas from great minds. January 4, 2007. Toronto Star.
  83. ↑ Brainwashed. Rethinking man's genetic makeup. November 2010, The Walrus.
  84. ↑ Scherer, SW. Genomics is the medium for 21st century biology. Editorial. 2012. Genome 55, v-vi.
  85. ↑ Martin, Roger (2009). The Reliability Bias: Why Advancing Knowledge Is So Hard--How Making Room for Validity Will Help You Design a Business That Is Better at Innovation. Harvard Business Publishing.
  86. ↑ Wright, Bob (2016). The Wright Stuff: From NBC to Autism Speaks. RosettaBooks. ISBN 978-0795346927. 
  87. ↑ Silberman, Steve (August 23, 2016). Neurotribes: The Legacy of Autism and the Future of Neurodiversity (2nd ed.). Avery. ISBN 978-0399185618. 
  88. ↑ (in en) Part 1. OBI/CIFAR Public Lecture on Autism, Presented by Autism Speaks, https://www.youtube.com/watch?v=hlLfuy_auXs, retrieved 2023-12-27 
  89. ↑ "World Autism Awareness Day, 2 April" (in en). https://www.un.org/en/events/autismday/events2015.shtml. 
  90. ↑ Genomics, Front Line; Gunn, Shannon (2022-02-22). "Genome Giants: Stephen Scherer, Director, The Centre for Applied Genomics, SickKids" (in en). https://frontlinegenomics.com/genome-giants-stephen-scherer-director-the-centre-for-applied-genomics-sickkids/. 
  91. ↑ "MediCinema - Creative classroom videos & DVDs - CRACKING THE CODE: The Continuing Saga of Genetics". http://www.medicinema.com/genetics.html. 
  92. ↑ (in en) After Darwin (1999) | Full Movie | Lewis Wolpert | Benno Muller-Hill | Troy Duster | Andrea Shugar, https://www.youtube.com/watch?v=wYppdhSbNqg, retrieved 2023-12-27 
  93. ↑ "SickKids Discovery Dialogues - YouTube". https://www.youtube.com/playlist?list=PLfAK35c0XomtCrHDR1wcaLU2_MXLHGtuY. 
  94. ↑ "Canada's Top 40 Under 40 - Honourees 1999". https://canadastop40under40.com/honourees-1999.html. 
  95. ↑ "HHMI Awards Canadian, Latin American Research Grants | HHMI" (in en). https://www.hhmi.org/news/hhmi-awards-canadian-latin-american-research-grants. 
  96. ↑ "Stephen W. Scherer" (in en-US). https://cifar.ca/bios/stephen-w-scherer/. 
  97. ↑ "Recipients – Steacie Prize for Natural Sciences". https://steacieprize.ca/recipients/. 
  98. ↑ "Member Directory" (in en). https://rsc-src.ca/en/find-rsc-member/results. 
  99. ↑ "Science Alumni of Honour Award: 50th Anniversary | Science" (in en). https://uwaterloo.ca/science/alumni-and-friends/science-alumni-awards/50-anniversary-science-alumni-honour-award. 
  100. ↑ "Ontario Newsroom". https://news.ontario.ca/en/backgrounder/672/premiers-summit-award-in-medical-research. 
  101. ↑ "AAAS Members Elected as Fellows (2011)". https://www.aaas.org/news/aaas-members-elected-fellows-2. 
  102. ↑ "Distinguished Brothers" (in en-US). https://sigmachi.ca/distinguished-sigma-chi-brothers/. 
  103. ↑ "Stephen Scherer" (in en). https://www.gg.ca/en/honours/recipients/126-268714. 
  104. ↑ Ubelacker, Sheryl (September 25, 2014). "Stephen Scherer of Toronto's Sick Kids Hospital pegged to win Nobel Prize". https://www.cbc.ca/news/health/stephen-scherer-of-toronto-s-sick-kids-hospital-pegged-to-win-nobel-prize-1.2777560. 
  105. ↑ "Stephen W. Scherer" (in en). 2020-10-07. https://clarivate.com/webofsciencegroup/citation-laureates/resources/stephen-w-scherer/. 
  106. ↑ "Toronto Sick Kids geneticist named potential Nobel Prize recipient" (in en-CA). The Globe and Mail. 2014-09-24. https://www.theglobeandmail.com/technology/science/toronto-sick-kids-geneticist-on-track-for-nobel-prize/article20780467/. 
  107. ↑ Maclean's (2014-11-22). "The Maclean's Power List: The 50 most important people in Canada" (in en-US). https://macleans.ca/news/canada/the-macleans-power-list-the-50-most-important-people-in-canada/. 
  108. ↑ "U of T researchers awarded Killam Prizes for contributions to humanities, health sciences | University of Toronto" (in en). https://www.utoronto.ca/news/u-t-researchers-awarded-killam-prizes-contributions-humanities-health-sciences. 
  109. ↑ "INSAR Fellows - International Society for Autism Research (INSAR)". https://www.autism-insar.org/page/Fellows?&hhsearchterms=%22stephen+and+scherer%22. 
  110. ↑ "Scientific & Academic Chairs" (in en). https://www.sickkids.ca/en/research/scientific-academic-chairs/. 
  111. ↑ Government of Canada, Canadian Institutes of Health Research (2015-11-30). "Just an Ordinary Superstar - CIHR". https://cihr-irsc.gc.ca/e/49529.html. 
  112. ↑ "University of Windsor Honorary Degrees Conferred". https://www.uwindsor.ca/secretariat/sites/uwindsor.ca.secretariat/files/honorary_degree_by_convocation_august_8_2022.pdf. 
  113. ↑ "Alumni Profile: Stephen W. Scherer | Science" (in en). https://uwaterloo.ca/science/alumni-and-friends/alumni-profile-stephen-w-scherer. 
  114. ↑ University, Department of Communications and Public Affairs, Western (2018-04-10). "Western to honour global science, business, entertainment and sport leaders at 311th Convocation" (in en-US). https://mediarelations.uwo.ca/2018/04/10/western-honour-global-science-business-entertainment-sport-leaders-311th-convocation/. 
  115. ↑ (in en) Western Convocation - June 14, 2018 - Stephen Scherer, https://www.youtube.com/watch?v=JfQxPAbsniI, retrieved 2023-12-27 



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