Stephen W. Scherer

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entirely accounted for by some 3 million single nucleotide polymorphisms (SNPs) per genome. 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. Scherer's observations of frequent CNV events found in the genomes of all cells in every individual, co-published with Canadian-Korean scientist

525:’s NeuroTribes: The Legacy of Autism and the Future of Neurodiversity, amongst others. In 2013, he spoke at the Canadian Broadcast Glenn Gould Studio: ‘Cracking the Autism Enigma’, and in 2015 was a special guest speaker at the United Nations, New York for World Autism Awareness Day. He has been featured the Genome Giants series of interviews. He served as the scientific consultant for two documentaries, the MediCinema Film creation 27: 413:

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. 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.

353:, renal carcinoma, Williams syndrome, sacral agenesis, citrullinemia, renal tubular acidosis and many others were identified. His group also discovered the largest gene in the genome, which was later found to be involved in autism. The sum of this work, including contributions from scientists worldwide and J. 1491:

Chan, Elayne M.; Young, Edwin J.; Ianzano, Leonarda; Munteanu, Iulia; Zhao, Xiaochu; Christopoulos, Constantine C.; Avanzini, Giuliano; Elia, Maurizio; Ackerley, Cameron A.; Jovic, Nebojsa J.; Bohlega, Saeed; Andermann, Eva; Rouleau, Guy A.; Delgado-Escueta, Antonio V.; Minassian, Berge A. (September

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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

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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

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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. These experiences along Scherer’s advocacy with the Canadian Coalition for Genetic Fairness helped to establish Canada’s

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MSSNG project, 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.

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Scherer has co-published over 700 scholarly papers and book chapters. He has been on the Thomson Reuters Highly Cited Researcher and World’s Most Influential Scientific Minds list (2015-2018). His Google Scholar h-index=162; 129,284 citations. In 2023, with Ronald D. Cohn and Ada Hamosh, he edited

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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. For the 150th anniversary of Canada (2017), he started the CanSeq150 Project to sequence 150 genomes of species most relevant to

3109:

Trost, Brett; Thiruvahindrapuram, Bhooma; Chan, Ada J. S.; Engchuan, Worrawat; Higginbotham, Edward J.; Howe, Jennifer L.; Loureiro, Livia O.; Reuter, Miriam S.; Roshandel, Delnaz; Whitney, Joe; Zarrei, Mehdi; Bookman, Matthew; Somerville, Cherith; Shaath, Rulan; Abdi, Mona (November 10, 2022).

2652:

Tammimies, Kristiina; Marshall, Christian R.; Walker, Susan; Kaur, Gaganjot; Thiruvahindrapuram, Bhooma; Lionel, Anath C.; Yuen, Ryan K. C.; Uddin, Mohammed; Roberts, Wendy; Weksberg, Rosanna; Woodbury-Smith, Marc; Zwaigenbaum, Lonnie; Anagnostou, Evdokia; Wang, Zhuozhi; Wei, John (September 1,

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members such as the Canadian beaver and Canadian wolverine. 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. CGEn also led the Covid-19 host genome sequencing project, which completed 10,000

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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. These discoveries have led to broadly available tests facilitating early diagnostic

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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. Previous theory held that humans were 99.9% DNA identical with the small difference in variation almost

2596:

Uddin, Mohammed; Tammimies, Kristiina; Pellecchia, Giovanna; Alipanahi, Babak; Hu, Pingzhao; Wang, Zhuozhi; Pinto, Dalila; Lau, Lynette; Nalpathamkalam, Thomas; Marshall, Christian R.; Blencowe, Benjamin J.; Frey, Brendan J.; Merico, Daniele; Yuen, Ryan K. C.; Scherer, Stephen W. (2014).

3312:

Reuter, Miriam S.; Walker, Susan; Thiruvahindrapuram, Bhooma; Whitney, Joe; Cohn, Iris; Sondheimer, Neal; Yuen, Ryan K. C.; Trost, Brett; Paton, Tara A.; Pereira, Sergio L.; Herbrick, Jo-Anne; Wintle, Richard F.; Merico, Daniele; Howe, Jennifer; MacDonald, Jeffrey R. (February 5, 2018).

1693:

Redon, Richard; Ishikawa, Shumpei; Fitch, Karen R.; Feuk, Lars; Perry, George H.; Andrews, T. Daniel; Fiegler, Heike; Shapero, Michael H.; Carson, Andrew R.; Chen, Wenwei; Cho, Eun Kyung; Dallaire, Stephanie; Freeman, Jennifer L.; González, Juan R.; Gratacòs, Mònica (November 23, 2006).

2700:

Yuen, Ryan K. C.; Thiruvahindrapuram, Bhooma; Merico, Daniele; Walker, Susan; Tammimies, Kristiina; Hoang, Ny; Chrysler, Christina; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Liu, Yi; Gazzellone, Matthew J.; D'Abate, Lia; Deneault, Eric; Howe, Jennifer L.; Liu, Richard S. C. (2015).

1435:

Minassian, Berge A.; Lee, Jeffrey R.; Herbrick, Jo-Anne; Huizenga, Jack; Soder, Sylvia; Mungall, Andrew J.; Dunham, Ian; Gardner, Rebecca; Fong, Chung-yan G.; Carpenter, Stirling; Jardim, Laura; Satishchandra, P.; Andermann, Eva; Snead, O. Carter; Lopes-Cendes, Iscia (October 1, 1998).

1369:

Scherer, Stephen W.; Cheung, Joseph; MacDonald, Jeffrey R.; Osborne, Lucy R.; Nakabayashi, Kazuhiko; Herbrick, Jo-Anne; Carson, Andrew R.; Parker-Katiraee, Layla; Skaug, Jennifer; Khaja, Razi; Zhang, Junjun; Hudek, Alexander K.; Li, Martin; Haddad, May; Duggan, Gavin E. (May 2, 2003).

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variation. 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.

2756:

C Yuen, Ryan K.; Merico, Daniele; Bookman, Matt; L Howe, Jennifer; Thiruvahindrapuram, Bhooma; Patel, Rohan V.; Whitney, Joe; Deflaux, Nicole; Bingham, Jonathan; Wang, Zhuozhi; Pellecchia, Giovanna; Buchanan, Janet A.; Walker, Susan; Marshall, Christian R.; Uddin, Mohammed (2017).

2051:

Pinto, Dalila; Pagnamenta, Alistair T.; Klei, Lambertus; Anney, Richard; Merico, Daniele; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R.; Correia, Catarina; Abrahams, Brett S.; Almeida, Joana; Bacchelli, Elena; Bader, Gary D.; Bailey, Anthony J.; Baird, Gillian (July 9, 2010).

1993:

Marshall, Christian R.; Noor, Abdul; Vincent, John B.; Lionel, Anath C.; Feuk, Lars; Skaug, Jennifer; Shago, Mary; Moessner, Rainald; Pinto, Dalila; Ren, Yan; Thiruvahindrapduram, Bhooma; Fiebig, Andreas; Schreiber, Stefan; Friedman, Jan; Ketelaars, Cees E. J. (January 17, 2008).

2183:

Noor, Abdul; Whibley, Annabel; Marshall, Christian R.; Gianakopoulos, Peter J.; Piton, Amelie; Carson, Andrew R.; Orlic-Milacic, Marija; Lionel, Anath C.; Sato, Daisuke; Pinto, Dalila; Drmic, Irene; Noakes, Carolyn; Senman, Lili; Zhang, Xiaoyun; Mo, Rong (September 15, 2010).

1935:

Szatmari, Peter; Paterson, Andrew D; Zwaigenbaum, Lonnie; Roberts, Wendy; Brian, Jessica; Liu, Xiao-Qing; Vincent, John B; Skaug, Jennifer L; Thompson, Ann P; Senman, Lili; Feuk, Lars; Qian, Cheng; Bryson, Susan E; Jones, Marshall B; Marshall, Christian R (February 18, 2007).

1875:

Levy, Samuel; Sutton, Granger; Ng, Pauline C.; Feuk, Lars; Halpern, Aaron L.; Walenz, Brian P.; Axelrod, Nelson; Huang, Jiaqi; Kirkness, Ewen F.; Denisov, Gennady; Lin, Yuan; MacDonald, Jeffrey R.; Pang, Andy Wing Chun; Shago, Mary; Stockwell, Timothy B. (September 4, 2007).

2538:

Pinto, Dalila; Delaby, Elsa; Merico, Daniele; Barbosa, Mafalda; Merikangas, Alison; Klei, Lambertus; Thiruvahindrapuram, Bhooma; Xu, Xiao; Ziman, Robert; Wang, Zhuozhi; Vorstman, Jacob A. S.; Thompson, Ann; Regan, Regina; Pilorge, Marion; Pellecchia, Giovanna (May 1, 2014).

1248:

Kobayashi, Keiko; Sinasac, David S.; Iijima, Mikio; Boright, Andrew P.; Begum, Laila; Lee, Jeffrey R.; Yasuda, Tomotsugu; Ikeda, Sayaka; Hirano, Ryuki; Terazono, Hiroki; Crackower, Michael A.; Kondo, Ikuko; Tsui, Lap-Chee; Scherer, Stephen W.; Saheki, Takeyori (June 1999).

2814:

Trost, Brett; Engchuan, Worrawat; Nguyen, Charlotte M.; Thiruvahindrapuram, Bhooma; Dolzhenko, Egor; Backstrom, Ian; Mirceta, Mila; Mojarad, Bahareh A.; Yin, Yue; Dov, Alona; Chandrakumar, Induja; Prasolava, Tanya; Shum, Natalie; Hamdan, Omar; Pellecchia, Giovanna (2020).

2241:

Vaags, Andrea K.; Lionel, Anath C.; Sato, Daisuke; Goodenberger, McKinsey; Stein, Quinn P.; Curran, Sarah; Ogilvie, Caroline; Ahn, Joo Wook; Drmic, Irene; Senman, Lili; Chrysler, Christina; Thompson, Ann; Russell, Carolyn; Prasad, Aparna; Walker, Susan (January 13, 2012).

1192:

Ross, Alison J.; Ruiz-Perez, Victor; Wang, Yiming; Hagan, Donna-Marie; Scherer, Steve; Lynch, Sally A.; Lindsay, Susan; Custard, Emily; Belloni, Elena; Wilson, David I.; Wadey, Roy; Goodman, Frances; Orstavik, Karen Helene; Monclair, Tom; Robson, Steve (December 1, 1998).

2299:

Sato, Daisuke; Lionel, Anath C.; Leblond, Claire S.; Prasad, Aparna; Pinto, Dalila; Walker, Susan; O'Connor, Irene; Russell, Carolyn; Drmic, Irene E.; Hamdan, Fadi F.; Michaud, Jacques L.; Endris, Volker; Roeth, Ralph; Delorme, Richard; Huguet, Guillaume (May 4, 2012).

1029:

Schmidt, Laura; Duh, Fuh-Mei; Chen, Fan; Kishida, Takeshi; Glenn, Gladys; Choyke, Peter; Scherer, Stephen W.; Zhuang, Zhenping; Lubensky, Irina; Dean, Michael; Allikmets, Rando; Chidambaram, Abi; Bergerheim, Ulf R.; Feltis, J. Timothy; Casadevall, Carme (May 1, 1997).

1817:

Khaja, Razi; Zhang, Junjun; MacDonald, Jeffrey R.; He, Yongshu; Joseph-George, Ann M.; Wei, John; Rafiq, Muhammad A.; Qian, Cheng; Shago, Mary; Pantano, Lorena; Aburatani, Hiroyuki; Jones, Keith; Redon, Richard; Hurles, Matthew; Armengol, Lluis (November 22, 2006).

2127:

Berkel, Simone; Marshall, Christian R.; Weiss, Birgit; Howe, Jennifer; Roeth, Ralph; Moog, Ute; Endris, Volker; Roberts, Wendy; Szatmari, Peter; Pinto, Dalila; Bonin, Michael; Riess, Angelika; Engels, Hartmut; Sprengel, Rolf; Scherer, Stephen W. (May 16, 2010).

1759:

Conrad, Donald F.; Pinto, Dalila; Redon, Richard; Feuk, Lars; Gokcumen, Omer; Zhang, Yujun; Aerts, Jan; Andrews, T. Daniel; Barnes, Chris; Campbell, Peter; Fitzgerald, Tomas; Hu, Min; Ihm, Chun Hwa; Kristiansson, Kati; MacArthur, Daniel G. (October 7, 2009).

1134:

Somerville, Martin J.; Mervis, Carolyn B.; Young, Edwin J.; Seo, Eul-Ju; del Campo, Miguel; Bamforth, Stephen; Peregrine, Ella; Loo, Wayne; Lilley, Margaret; Pérez-Jurado, Luis A.; Morris, Colleen A.; Scherer, Stephen W.; Osborne, Lucy R. (October 20, 2005).

2996:

Anagnostou, Evdokia; Zwaigenbaum, Lonnie; Szatmari, Peter; Fombonne, Eric; Fernandez, Bridget A.; Woodbury-Smith, Marc; Brian, Jessica; Bryson, Susan; Smith, Isabel M.; Drmic, Irene; Buchanan, Janet A.; Roberts, Wendy; Scherer, Stephen W. (2014).

918:

Belloni, E.; Muenke, M.; Roessler, E.; Traverse, G.; Siegel-Bartelt, J.; Frumkin, A.; Mitchell, H. F.; Donis-Keller, H.; Helms, C.; Hing, A. V.; Heng, H. H. Q.; Koop, B.; Martindale, D.; Rommens, J. M.; Tsui, L.C. (November 1, 1996).

1304:

Smith, Annabel N.; Skaug, Jennifer; Choate, Keith A.; Nayir, Ahmet; Bakkaloglu, Aysin; Ozen, Seza; Hulton, Sally A.; Sanjad, Sami A.; Al-Sabban, Essam A.; Lifton, Richard P.; Scherer, Stephen W.; Karet, Fiona E. (September 1, 2000).

2480:

Jiang, Yong-hui; Yuen, Ryan K. C.; Jin, Xin; Wang, Mingbang; Chen, Nong; Wu, Xueli; Ju, Jia; Mei, Junpu; Shi, Yujian; He, Mingze; Wang, Guangbiao; Liang, Jieqin; Wang, Zhe; Cao, Dandan; Carter, Melissa T. (August 8, 2013).

4355: 1077:

Osborne, Lucy R.; Li, Martin; Pober, Barbara; Chitayat, David; Bodurtha, Joann; Mandel, Ariane; Costa, Teresa; Grebe, Theresa; Cox, Sarah; Tsui, Lap-Chee; Scherer, Stephen W. (October 29, 2001).

55: 400:

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.

3170: 361:, generated the first published description of human chromosome 7. In other chromosome studies with Berge Minassian, disease genes causing deadly forms of epilepsy were identified. 719: 829: 378:, a public database utilized by clinical laboratories around the world to interpret CNV and structural variation data in diagnostics. Scherer, Lee and collaborators led by 541:. 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. 3236: 1662: 4273: 349:, Scherer led studies of human chromosome 7, in particular in the mapping phase of the Human Genome Project. Through collaborative research, genes involved in 974:

Roessler, Erich; Belloni, Elena; Gaudenz, Karin; Jay, Philippe; Berta, Philippe; Scherer, Stephen W.; Tsui, Lap-Chee; Muenke, Maximilian (November 1, 1996).

4073: 4385: 4226: 1556:

Iafrate, A. John; Feuk, Lars; Rivera, Miguel N.; Listewnik, Marc L.; Donahoe, Patricia K.; Qi, Ying; Scherer, Stephen W.; Lee, Charles (August 1, 2004).

593: 1307:"Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing" 4029: 4298: 3910: 3576:

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

4360: 3687: 59: 4125: 312: 672: 2429: 315:. He played competitive hockey and baseball winning provincial and national championships. He completed his Honours Science Degree at the 1613: 4400: 4395: 374:

working at Harvard in 2004, opened a new window for studies of natural genetic variation, evolution and disease. Scherer founded the

2655:"Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder" 606: 563: 4100: 109: 35: 4390: 3171:"CGEn receives $ 48.9 million in federal funding through the Canada Foundation for Innovation's Major Science Initiatives Fund" 81: 4380: 4370: 2964: 756: 443:

Genetic Non-Discrimination Act, which passed into law on May 4, 2017. He is also Editor-in-Chief of the scientific journal

264: 4047: 88: 4150: 3935: 3529:

Scherer, SW. By knowing our genomes, we will begin to truly know ourselves. Commentary August 7th, 2007. Globe and Mail.

3622: 3597: 3372: 1632: 1032:"Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas" 3520:

The human genome, and Pandora's box. Counterpoint: an interview with Margaret Wente. June 29th, 2000. Globe and Mail.

875: 492: 128: 95: 4375: 4247: 4126:"U of T researchers awarded Killam Prizes for contributions to humanities, health sciences | University of Toronto" 3056:"What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders" 554: 280: 3810: 2599:"Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder" 283:(TCAG). He is a Senior Fellow of Massey College at the University of Toronto. In 2014, he was named an esteemed 77: 4350: 3760: 3315:"The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants" 693: 2483:"Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing" 899:

Walking the jungles and deserts of chromosome 7. September 2003. Howard Hughes Medical Institute Bulletin.

4345: 1251:"The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein" 653: 422: 3713:"MediCinema - Creative classroom videos & DVDs - CRACKING THE CODE: The Continuing Saga of Genetics" 1438:"Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy" 2401:

Autism genetics: A breakthrough that sheds light on a medical mystery. June 10th, 2010. The Independent

805: 640:

GlaxoSmithKline-CIHR Endowed Chair in Genetics and Genomics from SickKids and the University of Toronto

51: 2130:"Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation" 908:

Milestones in Canadian Health Research; Decoding life. 2010. Canadian Institutes of Health Research.

2186:"Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability" 600: 508: 40: 4274:"Western to honour global science, business, entertainment and sport leaders at 311th Convocation" 4175: 3739:

842: 2759:"Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder" 576: 371: 44: 263:(born January 5, 1964) is a Canadian scientist who currently serves as the Chief of Research at 102: 4365: 3565:

Scherer, SW. Genomics is the medium for 21st century biology. Editorial. 2012. Genome 55, v-vi.

649: 583: 316: 293:

Discovery of large-scale gene copy number variation and its association with specific diseases.

199: 748:

We are the Champions : Canadian Championship Sports Teams, Windsor, Ontario, 20th Century

645: 320: 272: 268: 210: 3399: 387:'s team, which contributed to the completion of the first genome sequence of an individual. 4340: 3960: 2893: 2828: 2392:

Genetic finding paves way for controversial autism testing. June 10th, 2010. Globe and Mail

2065: 1707: 1383: 772: 720:"Thomson Reuters Predicts 2014 Nobel Laureates, Researchers Forecast for Nobel Recognition" 444: 219: 3661: 1079:"A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome" 8: 488: 468: 434:

Canada’s culture/environment/conservation; notable species completed include many of the

204: 3978: 3146: 3111: 2897: 2832: 2069: 1711: 1387: 921:"Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly" 4272:

University, Department of Communications and Public Affairs, Western (April 10, 2018).

3349: 3314: 3091: 3031: 2998: 2925: 2857: 2816: 2791: 2758: 2738: 2634: 2573: 2540: 2515: 2482: 2334: 2301: 2276: 2243: 2218: 2185: 2165: 2104: 2053: 2028: 1995: 1970: 1937: 1912: 1877: 1852: 1819: 1794: 1761: 1736: 1695: 1680:

Database of Genomic Variants: A curated catalogue of human genomic structural variation

1529: 1473: 1412: 1371: 1342: 1286: 1230: 1169: 1136: 1111: 1078: 1011: 956: 673:"Complete List of University Professors – Division of the Vice-President & Provost" 464: 460: 358: 3785: 2541:"Convergence of genes and cellular pathways dysregulated in autism spectrum disorders" 2356:

Science City: Racing to solve the puzzle of autism. January 5th, 2008. Globe and Mail.

1137:"Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus" 4292: 4003: 3688:"Genome Giants: Stephen Scherer, Director, The Centre for Applied Genomics, SickKids" 3618: 3593: 3354: 3336: 3151: 3133: 3095: 3083: 3075: 3036: 3018: 2978: 2970: 2960: 2945:"Detection and characterization of copy number variation in autism spectrum disorder" 2917: 2909: 2862: 2844: 2796: 2778: 2730: 2722: 2682: 2674: 2626: 2618: 2578: 2560: 2520: 2502: 2339: 2321: 2281: 2263: 2223: 2205: 2169: 2157: 2149: 2109: 2091: 2054:"Functional impact of global rare copy number variation in autism spectrum disorders" 2033: 2015: 1975: 1957: 1917: 1899: 1857: 1839: 1799: 1781: 1741: 1723: 1585: 1577: 1521: 1513: 1465: 1457: 1417: 1399: 1334: 1326: 1278: 1270: 1222: 1214: 1195:"A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis" 1174: 1156: 1116: 1098: 1059: 1051: 1003: 995: 948: 940: 871: 752: 504: 448: 350: 215: 3112:"Genomic architecture of autism from comprehensive whole-genome sequence annotation" 2742: 2638: 1533: 1346: 1290: 1234: 1015: 960: 3344: 3326: 3141: 3123: 3067: 3026: 3010: 2952: 2929: 2901: 2852: 2836: 2786: 2770: 2714: 2666: 2610: 2568: 2552: 2510: 2494: 2329: 2313: 2271: 2255: 2213: 2197: 2141: 2099: 2081: 2073: 2023: 2007: 1965: 1949: 1907: 1889: 1847: 1831: 1789: 1773: 1731: 1715: 1652:

DNA deletions and duplications help determine health. September 7th, 2007. Science.

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Government of Canada, Canadian Institutes of Health Research (November 30, 2015).

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Northbridge Chair in Paediatric Research at SickKids and the University of Toronto

2951:. Methods in Molecular Biology (Clifton, N.J.). Vol. 838. pp. 115–135. 2201: 1894: 746: 616: 538: 522: 480: 476: 288: 66: 3885: 2956: 2430:"SFARI | SFARI Gene to introduce EAGLE, a new ASD-relevance gene scoring system" 2365:

Canadian breakthrough offers hope on autism. February 19th, 2007. Globe and Mail

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The treasures of chromosome 7. Autumn 2001. The University of Toronto Magazine.

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Solving puzzle of son's autism soothes family. January 18th, 2008. Toronto Star

2317: 2259: 2011: 1938:"Mapping autism risk loci using genetic linkage and chromosomal rearrangements" 1820:"Genome assembly comparison identifies structural variants in the human genome" 379: 319:, Master of Science and Doctor of Philosophy in the Faculty of Medicine at the 4312: 3737: 3638: 3498: 3449: 3373:"Cracks in the code: Why mapping your DNA may be less reliable than you think" 3213: 3071: 2840: 2383:

Researchers discover genetic patterns of autism. June 9th, 2010. Time Magazine

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Canadian scientists discover giant gene. February 10th, 2001. Globe and Mail.

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Scherer, SW. 25 great ideas from great minds. January 4, 2007. Toronto Star.

3055: 2944: 2881: 2702: 2670: 2654: 2598: 1762:"Origins and functional impact of copy number variation in the human genome" 1395: 1306: 1031: 634:

Distinguished Fellow of the International Society for Autism Research (2021)

4030:"Stephen Scherer of Toronto's Sick Kids Hospital pegged to win Nobel Prize" 3835: 3472: 3424: 3358: 3155: 3087: 3040: 2982: 2921: 2866: 2800: 2734: 2703:"Whole-genome sequencing of quartet families with autism spectrum disorder" 2686: 2630: 2582: 2524: 2419:

Special Series: Autism's new frontiers. February 17th, 2013. Ottawa Citizen

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Gene hunters race against Lafora curse. September 27th, 2003. National Post

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Scherer, SW. Perfect genomics. Question of the Year 2007. Nature Genetics.

1469: 1226: 1063: 1007: 952: 3188: 2817:"Genome-wide detection of tandem DNA repeats that are expanded in autism" 2129: 1557: 1493: 1152: 426: 3556:

Brainwashed. Rethinking man's genetic makeup. November 2010, The Walrus.

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Part 1. OBI/CIFAR Public Lecture on Autism, Presented by Autism Speaks

1047: 334:

Thompson & Thompson Genetics and Genomics in Medicine, 9th Edition

3400:"Consolidated federal laws of canada, Genetic Non-Discrimination Act" 3311: 3237:"Scientists map genome of beaver as gift for Canada's 150th birthday" 2995: 2813: 612: 284: 4074:"Toronto Sick Kids geneticist named potential Nobel Prize recipient" 2882:"Copy-number variations associated with neuropsychiatric conditions" 2774: 2718: 2614: 2244:"Rare deletions at the neurexin 3 locus in autism spectrum disorder" 976:"Mutations in the human Sonic Hedgehog gene cause holoprosencephaly" 4151:"INSAR Fellows - International Society for Autism Research (INSAR)" 3108: 2145: 1953: 1835: 1573: 1509: 484: 4356:

Fellows of the American Association for the Advancement of Science

4101:"The Maclean's Power List: The 50 most important people in Canada" 3615:

Neurotribes: The Legacy of Autism and the Future of Neurodiversity

2699: 1934: 1675: 1322: 1094: 507:, explaining scientific discoveries. His research was featured in 2595: 2410:

Understanding Autism. Spring 2011. University of Toronto Magazine

1996:"Structural variation of chromosomes in autism spectrum disorder" 1453: 1266: 1210: 472: 308: 187: 2182: 773:"Stephen Scherer – Division of the Vice-President & Provost" 745:

Weepers, Bob; Fame, Windsor/Essex County Sports Hall of (2001).

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Canada's national platform for genome sequencing & analysis

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Canada's national platform for genome sequencing & analysis

3193:

Canada's national platform for genome sequencing & analysis

3175:

Canada's national platform for genome sequencing & analysis

2999:"Autism spectrum disorder: advances in evidence-based practice" 830:

The World’s Most Influential Scientific Minds list, 2015 (PDF)

65:

from the article and its talk page, especially if potentially

3811:"HHMI Awards Canadian, Latin American Research Grants | HHMI" 1368: 1247: 917: 365:

Discovery of frequent gene copy number variation (CNV) events

3911:"Science Alumni of Honour Award: 50th Anniversary | Science" 1434: 279:. Together they founded Canada's first human genome centre, 3215:

SickKids researchers sequence genome of the Canadian beaver

2651: 2455: 2240: 619:) Citation Laureate in Physiology or Medicine (2014) (2020) 503:

Agenda, and other national TV, radio, and media, including

429:

and Steven Jones at the University of British Columbia and

1555: 1494:"Mutations in NHLRC1 cause progressive myoclonus epilepsy" 3686:

Genomics, Front Line; Gunn, Shannon (February 22, 2022).

2755: 2302:"SHANK1 Deletions in Males with Autism Spectrum Disorder" 1992: 973: 500: 2880:

Cook, Edwin H.; Scherer, Stephen W. (October 16, 2008).

2537: 2050: 1558:"Detection of large-scale variation in the human genome" 1490: 1133: 3473:"This search engine could help unlock autism's secrets" 2298: 2126: 1191: 866:

Cohn, Ronald; Scherer, Stephen W.; Hamosh, Ada (2023).

751:. Windsor/Essex County Sports Hall of Fame and Museum. 291:) Citation laureate in Physiology or Medicine for the “ 1692: 1076: 4314:

Western Convocation - June 14, 2018 - Stephen Scherer

1816: 1696:"Global variation in copy number in the human genome" 1303: 1028: 417:

Genome science, data and public policy infrastructure

404:

Determining the genome architecture underlying autism

4199: 2943:

Marshall, Christian R.; Scherer, Stephen W. (2012).

1878:"The Diploid Genome Sequence of an Individual Human" 1758: 1663:

Large-scale structural variation in the human genome

594:

American Association for the Advancement of Science

491:and many other periodicals. He has appeared on the 4227:"University of Windsor Honorary Degrees Conferred" 625:Magazine 50 Most Important People in Canada (2014) 589:Premier’s Summit Award for Medical Research (2008) 527:Cracking the Code, the continuing saga of genetics 454: 3861:"Recipients – Steacie Prize for Natural Sciences" 865: 644:Scherer holds three Honorary Doctorates from the 560:Genetics Society of Canada Scientist Award (2002) 4332: 2479: 1874: 3053: 2942: 1611: 694:"Massey News 2014-15 by Massey College - Issuu" 4248:"Alumni Profile: Stephen W. Scherer | Science" 1372:"Human Chromosome 7: DNA Sequence and Biology" 267:and distinguished University Professor at the 4098: 3060:Current Opinion in Genetics & Development 3054:Vorstman, Jacob; Scherer, Stephen W. (2021). 1602:Patchwork people. October 20th, 2005. Nature. 582:Inaugural Distinguished Science Alumni Award- 4297:: CS1 maint: multiple names: authors list ( 3685: 3398:Branch, Legislative Services (May 4, 2017). 4386:Academic staff of the University of Toronto 3786:"Canada's Top 40 Under 40 - Honourees 1999" 3590:The Wright Stuff: From NBC to Autism Speaks 2879: 1630: 744: 459:Scherer’s discoveries have appeared in the 4271: 3425:"About the Editors | npj Genomic Medicine" 151: 58:about living persons that is unsourced or 4027: 3612: 3451:CBC Autism Research Story January 26 2015 3348: 3330: 3145: 3127: 3030: 2856: 2790: 2572: 2514: 2333: 2275: 2217: 2103: 2085: 2027: 1969: 1911: 1893: 1851: 1793: 1735: 1411: 1168: 1110: 870:(9th ed.). Thompson & Thompson. 609:for unique contributions to Canada (2013) 265:The Hospital for Sick Children (SickKids) 129:Learn how and when to remove this message 4028:Ubelacker, Sheryl (September 25, 2014). 3961:"AAAS Members Elected as Fellows (2011)" 3761:"SickKids Discovery Dialogues - YouTube" 1640:Howard Hughes Medical Institute Bulletin 1614:"Study turns human genetics on its head" 607:Queen Elizabeth II Diamond Jubilee Medal 564:Canadian Institute for Advanced Research 520:Wright Stuff: from NBC to Autism Speaks, 447:, which was co-founded in 2016 with Dr. 3500:Stephen Scherer: DNA Testing for Autism 451:the current Editor-in-Chief of Nature. 4361:Fellows of the Royal Society of Canada 4333: 3587: 3397: 3168: 3662:"World Autism Awareness Day, 2 April" 1612:Carolyn Abraham (November 23, 2006). 550:Canada's Top 40 under 40 Award (1999) 3613:Silberman, Steve (August 23, 2016). 3319:Canadian Medical Association Journal 3003:Canadian Medical Association Journal 20: 4202:"Just an Ordinary Superstar - CIHR" 3169:Warner, Hillete (August 19, 2022). 806:"Hall of Citation Laureates - 2023" 795:. The National Library of Medicine. 13: 4176:"Scientific & Academic Chairs" 2545:American Journal of Human Genetics 2487:American Journal of Human Genetics 2306:American Journal of Human Genetics 2248:American Journal of Human Genetics 2000:American Journal of Human Genetics 1661:Nature. From the archives (2004): 14: 4412: 868:Genetics and Genomics in Medicine 493:Canadian Broadcasting Corporation 4401:21st-century Canadian scientists 4396:20th-century Canadian scientists 4305: 4265: 4240: 4219: 4193: 4168: 4143: 4118: 4092: 4066: 4040: 4021: 3996: 3971: 3953: 3928: 3903: 439:Canadian genomes in April 2022. 391:Autism-associated CNVs and genes 25: 4099:Maclean's (November 22, 2014). 3878: 3853: 3828: 3803: 3778: 3753: 3730: 3705: 3679: 3654: 3631: 3606: 3581: 3568: 3559: 3550: 3541: 3532: 3523: 3514: 3491: 3465: 3442: 3417: 3391: 3365: 3305: 3280: 3255: 3229: 3206: 3181: 3162: 3102: 3047: 2989: 2936: 2873: 2807: 2749: 2693: 2645: 2589: 2531: 2473: 2448: 2422: 2413: 2404: 2395: 2386: 2377: 2368: 2359: 2350: 2292: 2234: 2176: 2120: 2044: 1986: 1928: 1868: 1810: 1752: 1686: 1668: 1655: 1646: 1624: 1605: 1596: 1549: 1540: 1484: 1428: 1362: 1353: 1297: 1241: 1185: 1141:New England Journal of Medicine 1127: 1070: 1022: 967: 911: 902: 893: 884: 859: 555:Howard Hughes Medical Institute 455:Media and special presentations 281:the Centre for Applied Genomics 240: 4008:The Governor General of Canada 3578:. Harvard Business Publishing. 2190:Science Translational Medicine 1676:"Database of Genomic Variants" 835: 823: 798: 786: 765: 738: 712: 686: 665: 572:in the Natural Sciences (2003) 423:TCAG genome centre at SickKids 16:Canadian scientist (born 1964) 1: 4391:University of Waterloo alumni 3983:Sigma Chi Canadian Foundation 1631:Steve Olson (November 2007). 659: 298: 271:. He obtained his PhD at the 261:Stephen Wayne "Steve" Scherer 4381:University of Toronto alumni 4371:People from Windsor, Ontario 2202:10.1126/scitranslmed.3001267 1895:10.1371/journal.pbio.0050254 376:Database of Genomic Variants 36:biography of a living person 7: 3890:The Royal Society of Canada 2957:10.1007/978-1-61779-507-7_5 2949:Genomic Structural Variants 326: 63:must be removed immediately 10: 4417: 3263:"Canada BioGenome Project" 3129:10.1016/j.cell.2022.10.009 2557:10.1016/j.ajhg.2014.03.018 2499:10.1016/j.ajhg.2013.06.012 2318:10.1016/j.ajhg.2012.03.017 2260:10.1016/j.ajhg.2011.11.025 2012:10.1016/j.ajhg.2007.12.009 1633:"The changing face of DNA" 544: 3072:10.1016/j.gde.2020.12.017 2841:10.1038/s41586-020-2579-z 631:in Health Sciences (2019) 250: 227: 195: 162: 150: 143: 3979:"Distinguished Brothers" 726:(Press release). Reuters 396:information for autism. 4376:Scientists from Ontario 3790:canadastop40under40.com 3617:(2nd ed.). Avery. 3404:laws-lois.justice.gc.ca 2671:10.1001/jama.2015.10078 1396:10.1126/science.1083423 577:Royal Society of Canada 513:The Design of Business, 421:Scherer co-founded the 345:From 1988 to 2003 with 336:, Elsevier Publishers. 3574:Martin, Roger (2009). 650:University of Waterloo 584:University of Waterloo 533:-winning documentary, 425:in 1998. In 2015 with 317:University of Waterloo 200:University of Waterloo 50:Please help by adding 4234:University of Windsor 3122:(23): 4409–4427.e18. 843:"Scherer, Stephen W." 646:University of Windsor 601:Significant Sigma Chi 566:Explorer Award (2002) 321:University of Toronto 313:Riverside High School 273:University of Toronto 269:University of Toronto 211:University of Toronto 167:Stephen Wayne Scherer 4351:Canadian geneticists 4155:www.autism-insar.org 4080:. September 24, 2014 4052:Web of Science Group 4048:"Stephen W. Scherer" 3836:"Stephen W. Scherer" 3588:Wright, Bob (2016). 1153:10.1056/NEJMoa051962 445:npj Genomic Medicine 408:Scherer has led the 303:Scherer was born in 78:"Stephen W. Scherer" 56:Contentious material 3692:Front Line Genomics 3332:10.1503/cmaj.171151 3015:10.1503/cmaj.121756 2906:10.1038/nature07458 2898:2008Natur.455..919C 2833:2020Natur.586...80T 2763:Nature Neuroscience 2745:– via PubMed. 2641:– via PubMed. 2436:. December 10, 2021 2078:10.1038/nature09146 2070:2010Natur.466..368P 1778:10.1038/nature08516 1720:10.1038/nature05329 1712:2006Natur.444..444R 1388:2003Sci...300..767S 489:Scientific American 4346:Autism researchers 4078:The Globe and Mail 3936:"Ontario Newsroom" 3886:"Member Directory" 3717:www.medicinema.com 3503:, October 27, 2010 3479:. October 21, 2015 3454:, January 28, 2015 3379:. February 3, 2018 3377:The Globe and Mail 3288:"Program Overview" 3243:. January 13, 2017 3241:The Globe and Mail 1665:. (27 April 2017). 1618:The Globe and Mail 992:10.1038/ng1196-357 937:10.1038/ng1196-353 793:Stephen W. Scherer 724:www.prnewswire.com 700:. October 23, 2015 654:Western University 518:autobiography the 340:Chromosome mapping 145:Stephen W. Scherer 4054:. October 7, 2020 4004:"Stephen Scherer" 3742:, August 24, 2020 2966:978-1-61779-506-0 2892:(7215): 919–923. 2064:(7304): 368–372. 1830:(12): 1413–1418. 1772:(7289): 704–712. 1706:(7118): 444–454. 1382:(5620): 767–772. 1147:(16): 1694–1701. 1048:10.1038/ng0597-68 846:scholar.google.ca 832:. Thomas Reuters. 758:978-0-9687666-1-3 505:Quirks and Quarks 449:Magdalena Skipper 351:holoprosencephaly 258: 257: 223: 208: 139: 138: 131: 113: 39:needs additional 4408: 4326: 4325: 4324: 4322: 4309: 4303: 4302: 4296: 4288: 4286: 4284: 4269: 4263: 4262: 4260: 4258: 4244: 4238: 4237: 4231: 4223: 4217: 4216: 4214: 4212: 4197: 4191: 4190: 4188: 4186: 4172: 4166: 4165: 4163: 4161: 4147: 4141: 4140: 4138: 4136: 4122: 4116: 4115: 4113: 4111: 4096: 4090: 4089: 4087: 4085: 4070: 4064: 4063: 4061: 4059: 4044: 4038: 4037: 4025: 4019: 4018: 4016: 4014: 4000: 3994: 3993: 3991: 3989: 3975: 3969: 3968: 3957: 3951: 3950: 3948: 3946: 3932: 3926: 3925: 3923: 3921: 3907: 3901: 3900: 3898: 3896: 3882: 3876: 3875: 3873: 3871: 3857: 3851: 3850: 3848: 3846: 3832: 3826: 3825: 3823: 3821: 3807: 3801: 3800: 3798: 3796: 3782: 3776: 3775: 3773: 3771: 3757: 3751: 3750: 3749: 3747: 3734: 3728: 3727: 3725: 3723: 3709: 3703: 3702: 3700: 3698: 3683: 3677: 3676: 3674: 3672: 3658: 3652: 3651: 3650: 3648: 3643:, March 12, 2013 3635: 3629: 3628: 3610: 3604: 3603: 3592:. 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4330: 4329: 4320: 4318: 4317:, June 18, 2018 4311: 4310: 4306: 4290: 4289: 4282: 4280: 4278:Media Relations 4270: 4266: 4256: 4254: 4246: 4245: 4241: 4229: 4225: 4224: 4220: 4210: 4208: 4206:cihr-irsc.gc.ca 4198: 4194: 4184: 4182: 4174: 4173: 4169: 4159: 4157: 4149: 4148: 4144: 4134: 4132: 4130:www.utoronto.ca 4124: 4123: 4119: 4109: 4107: 4097: 4093: 4083: 4081: 4072: 4071: 4067: 4057: 4055: 4046: 4045: 4041: 4026: 4022: 4012: 4010: 4002: 4001: 3997: 3987: 3985: 3977: 3976: 3972: 3959: 3958: 3954: 3944: 3942: 3940:news.ontario.ca 3934: 3933: 3929: 3919: 3917: 3909: 3908: 3904: 3894: 3892: 3884: 3883: 3879: 3869: 3867: 3865:steacieprize.ca 3859: 3858: 3854: 3844: 3842: 3834: 3833: 3829: 3819: 3817: 3809: 3808: 3804: 3794: 3792: 3784: 3783: 3779: 3769: 3767: 3765:www.youtube.com 3759: 3758: 3754: 3745: 3743: 3736: 3735: 3731: 3721: 3719: 3711: 3710: 3706: 3696: 3694: 3684: 3680: 3670: 3668: 3660: 3659: 3655: 3646: 3644: 3637: 3636: 3632: 3625: 3611: 3607: 3600: 3586: 3582: 3573: 3569: 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mater 191: 181: 178: 177:January 5, 1964 172: 170: 169: 168: 158: 146: 135: 124: 118: 115: 72: 70: 49: 30: 26: 17: 12: 11: 5: 4414: 4404: 4403: 4398: 4393: 4388: 4383: 4378: 4373: 4368: 4363: 4358: 4353: 4348: 4343: 4328: 4327: 4304: 4264: 4239: 4218: 4192: 4167: 4142: 4117: 4091: 4065: 4039: 4020: 3995: 3970: 3952: 3927: 3902: 3877: 3852: 3827: 3802: 3777: 3752: 3729: 3704: 3678: 3653: 3630: 3624:978-0399185618 3623: 3605: 3599:978-0795346927 3598: 3580: 3567: 3558: 3549: 3540: 3531: 3522: 3513: 3490: 3464: 3441: 3429:www.nature.com 3416: 3390: 3364: 3304: 3279: 3254: 3228: 3205: 3180: 3161: 3101: 3046: 3009:(7): 509–519. 2988: 2965: 2935: 2872: 2806: 2769:(4): 602–611. 2748: 2713:(2): 185–191. 2692: 2665:(9): 895–903. 2644: 2609:(7): 742–747. 2588: 2551:(5): 677–694. 2530: 2493:(2): 249–263. 2472: 2447: 2421: 2412: 2403: 2394: 2385: 2376: 2367: 2358: 2349: 2312:(5): 879–887. 2291: 2254:(1): 133–141. 2233: 2196:(49): 49ra68. 2175: 2146:10.1038/ng.589 2140:(6): 489–491. 2119: 2043: 2006:(2): 477–488. 1985: 1954:10.1038/ng1985 1948:(3): 319–328. 1927: 1867: 1836:10.1038/ng1921 1809: 1751: 1685: 1667: 1654: 1645: 1623: 1604: 1595: 1574:10.1038/ng1416 1568:(9): 949–951. 1548: 1539: 1510:10.1038/ng1238 1504:(2): 125–127. 1483: 1448:(2): 171–174. 1427: 1361: 1352: 1296: 1261:(2): 159–163. 1240: 1205:(4): 358–361. 1184: 1126: 1089:(3): 321–325. 1069: 1021: 986:(3): 357–360. 966: 931:(3): 353–356. 910: 901: 892: 883: 876: 858: 834: 822: 797: 785: 764: 757: 737: 711: 685: 663: 661: 658: 642: 641: 638: 635: 632: 626: 620: 610: 604: 599:International 597: 592:Fellow of the 590: 587: 580: 575:Fellow of the 573: 567: 561: 558: 551: 546: 543: 465:New York Times 461:Globe and Mail 456: 453: 380:Matthew Hurles 328: 325: 300: 297: 256: 255: 252: 248: 247: 236: 232: 231: 229: 225: 224: 197: 193: 192: 182: 166: 164: 160: 159: 156: 148: 147: 144: 137: 136: 60:poorly sourced 33: 31: 24: 15: 9: 6: 4: 3: 2: 4413: 4402: 4399: 4397: 4394: 4392: 4389: 4387: 4384: 4382: 4379: 4377: 4374: 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