Stephen W. Scherer (English Wikipedia)

Warner, Hillete (August 19, 2022). "CGEn receives $48.9 million in federal funding through the Canada Foundation for Innovation's Major Science Initiatives Fund". Canada's national platform for genome sequencing & analysis.
"CanSeq150". Canada's national platform for genome sequencing & analysis. Retrieved December 27, 2023.
"Canada BioGenome Project". Canada's national platform for genome sequencing & analysis. Retrieved December 27, 2023.
"Program Overview". Canada's national platform for genome sequencing & analysis. Retrieved December 27, 2023.

cifar.ca

"Stephen W. Scherer". CIFAR. Retrieved December 27, 2023.

cihr-irsc.gc.ca

Government of Canada, Canadian Institutes of Health Research (November 30, 2015). "Just an Ordinary Superstar - CIHR". cihr-irsc.gc.ca. Retrieved December 27, 2023.

clarivate.com

"Hall of Citation Laureates - 2023". Clarivate. Retrieved December 27, 2023.
"Stephen W. Scherer". Web of Science Group. October 7, 2020. Retrieved December 27, 2023.

doi.org

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). "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. S2CID 23432640.
Roessler, Erich; Belloni, Elena; Gaudenz, Karin; Jay, Philippe; Berta, Philippe; Scherer, Stephen W.; Tsui, Lap-Chee; Muenke, Maximilian (November 1, 1996). "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. S2CID 20946001.
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). "Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas". Nature Genetics. 16 (1): 68–73. doi:10.1038/ng0597-68. ISSN 1546-1718. PMID 9140397.
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). "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. PMC 2889916. PMID 11685205.
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). "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. PMC 2893213. PMID 16236740.
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). "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. PMID 9843207. S2CID 31062371.
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). "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. S2CID 20137905.
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). "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. S2CID 19880326.
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). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–772. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. ISSN 0036-8075. PMC 2882961. PMID 12690205.
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). "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. S2CID 8277795.
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 7, 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nature Genetics. 35 (2): 125–127. doi:10.1038/ng1238. ISSN 1546-1718. PMID 12958597. S2CID 32590557.
Iafrate, A. John; Feuk, Lars; Rivera, Miguel N.; Listewnik, Marc L.; Donahoe, Patricia K.; Qi, Ying; Scherer, Stephen W.; Lee, Charles (August 1, 2004). "Detection of large-scale variation in the human genome". Nature Genetics. 36 (9): 949–951. doi:10.1038/ng1416. ISSN 1546-1718. PMID 15286789.
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). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–454. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. ISSN 1476-4687. PMC 2669898. PMID 17122850.
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). "Origins and functional impact of copy number variation in the human genome". Nature. 464 (7289): 704–712. doi:10.1038/nature08516. ISSN 1476-4687. PMC 3330748. PMID 19812545.
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). "Genome assembly comparison identifies structural variants in the human genome". Nature Genetics. 38 (12): 1413–1418. doi:10.1038/ng1921. ISSN 1546-1718. PMC 2674632. PMID 17115057.
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). "The Diploid Genome Sequence of an Individual Human". PLOS Biology. 5 (10): e254. doi:10.1371/journal.pbio.0050254. ISSN 1545-7885. PMC 1964779. PMID 17803354.
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). "Mapping autism risk loci using genetic linkage and chromosomal rearrangements". Nature Genetics. 39 (3): 319–328. doi:10.1038/ng1985. ISSN 1546-1718. PMC 4867008. PMID 17322880.
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). "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. PMC 2426913. PMID 18252227.
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). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–372. Bibcode:2010Natur.466..368P. doi:10.1038/nature09146. hdl:10400.18/214. ISSN 1476-4687. PMC 3021798. PMID 20531469.
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). "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. S2CID 205356656.
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). "Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability". Science Translational Medicine. 2 (49): 49ra68. doi:10.1126/scitranslmed.3001267. ISSN 1946-6234. PMC 2987731. PMID 20844286.
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). "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. PMC 3257896. PMID 22209245.
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). "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. PMC 3376495. PMID 22503632.
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). "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. PMC 3738824. PMID 23849776.
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). "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. PMC 4067558. PMID 24768552.
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). "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. S2CID 12729162 – via PubMed.
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, 2015). "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.
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). "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. S2CID 29439880 – via PubMed.
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). "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. PMC 5501701. PMID 28263302.
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). "Genome-wide detection of tandem DNA repeats that are expanded in autism". Nature. 586 (7827): 80–86. Bibcode:2020Natur.586...80T. doi:10.1038/s41586-020-2579-z. ISSN 1476-4687. PMC 9348607. PMID 32717741.
Cook, Edwin H.; Scherer, Stephen W. (October 16, 2008). "Copy-number variations associated with neuropsychiatric conditions". Nature. 455 (7215): 919–923. Bibcode:2008Natur.455..919C. doi:10.1038/nature07458. ISSN 1476-4687. PMID 18923514. S2CID 4377899.
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.). Vol. 838. pp. 115–135. doi:10.1007/978-1-61779-507-7_5. ISBN 978-1-61779-506-0. ISSN 1940-6029. PMID 22228009.
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). "Autism spectrum disorder: advances in evidence-based practice". Canadian Medical Association Journal. 186 (7): 509–519. doi:10.1503/cmaj.121756. ISSN 1488-2329. PMC 3986314. PMID 24418986.
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. S2CID 231634644.
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). "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. PMC 10726699. PMID 36368308.
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). "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. PMC 5798982. PMID 29431110.

frontlinegenomics.com

Genomics, Front Line; Gunn, Shannon (February 22, 2022). "Genome Giants: Stephen Scherer, Director, The Centre for Applied Genomics, SickKids". Front Line Genomics. Retrieved December 27, 2023.

gg.ca

"Stephen Scherer". The Governor General of Canada. Retrieved December 27, 2023.

google.ca

scholar.google.ca

"Scherer, Stephen W." scholar.google.ca. Retrieved December 27, 2023.

handle.net

hdl.handle.net

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). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–372. Bibcode:2010Natur.466..368P. doi:10.1038/nature09146. hdl:10400.18/214. ISSN 1476-4687. PMC 3021798. PMID 20531469.

harvard.edu

ui.adsabs.harvard.edu

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). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–772. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. ISSN 0036-8075. PMC 2882961. PMID 12690205.
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). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–454. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. ISSN 1476-4687. PMC 2669898. PMID 17122850.
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). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–372. Bibcode:2010Natur.466..368P. doi:10.1038/nature09146. hdl:10400.18/214. ISSN 1476-4687. PMC 3021798. PMID 20531469.
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). "Genome-wide detection of tandem DNA repeats that are expanded in autism". Nature. 586 (7827): 80–86. Bibcode:2020Natur.586...80T. doi:10.1038/s41586-020-2579-z. ISSN 1476-4687. PMC 9348607. PMID 32717741.
Cook, Edwin H.; Scherer, Stephen W. (October 16, 2008). "Copy-number variations associated with neuropsychiatric conditions". Nature. 455 (7215): 919–923. Bibcode:2008Natur.455..919C. doi:10.1038/nature07458. ISSN 1476-4687. PMID 18923514. S2CID 4377899.

hhmi.org

Steve Olson (November 2007). "The changing face of DNA" (PDF). Howard Hughes Medical Institute Bulletin.
"HHMI Awards Canadian, Latin American Research Grants | HHMI". www.hhmi.org. Retrieved December 27, 2023.

issuu.com

"Massey News 2014-15 by Massey College - Issuu". issuu.com. October 23, 2015. Retrieved December 22, 2023.

justice.gc.ca

laws-lois.justice.gc.ca

Branch, Legislative Services (May 4, 2017). "Consolidated federal laws of canada, Genetic Non-Discrimination Act". laws-lois.justice.gc.ca. Retrieved December 27, 2023.

ludwigcancerresearch.org

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

macleans.ca

Maclean's (November 22, 2014). "The Maclean's Power List: The 50 most important people in Canada". Macleans.ca. Retrieved December 27, 2023.

medicinema.com

"MediCinema - Creative classroom videos & DVDs - CRACKING THE CODE: The Continuing Saga of Genetics". www.medicinema.com. Retrieved December 27, 2023.

mss.ng

research.mss.ng

"MSSNG". research.mss.ng. Retrieved December 27, 2023.

nature.com

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). "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. S2CID 23432640.
Roessler, Erich; Belloni, Elena; Gaudenz, Karin; Jay, Philippe; Berta, Philippe; Scherer, Stephen W.; Tsui, Lap-Chee; Muenke, Maximilian (November 1, 1996). "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. S2CID 20946001.
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). "Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas". Nature Genetics. 16 (1): 68–73. doi:10.1038/ng0597-68. ISSN 1546-1718. PMID 9140397.
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). "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. PMID 9843207. S2CID 31062371.
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). "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. S2CID 20137905.
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). "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. S2CID 19880326.
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). "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. S2CID 8277795.
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 7, 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nature Genetics. 35 (2): 125–127. doi:10.1038/ng1238. ISSN 1546-1718. PMID 12958597. S2CID 32590557.
Iafrate, A. John; Feuk, Lars; Rivera, Miguel N.; Listewnik, Marc L.; Donahoe, Patricia K.; Qi, Ying; Scherer, Stephen W.; Lee, Charles (August 1, 2004). "Detection of large-scale variation in the human genome". Nature Genetics. 36 (9): 949–951. doi:10.1038/ng1416. ISSN 1546-1718. PMID 15286789.
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). "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. S2CID 205356656.
"About the Editors | npj Genomic Medicine". www.nature.com. Retrieved March 28, 2024.

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Nature. From the archives (2004): Large-scale structural variation in the human genome. (27 April 2017).

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pubmed.ncbi.nlm.nih.gov

Stephen W. Scherer. The National Library of Medicine.
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). "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. S2CID 23432640.
Roessler, Erich; Belloni, Elena; Gaudenz, Karin; Jay, Philippe; Berta, Philippe; Scherer, Stephen W.; Tsui, Lap-Chee; Muenke, Maximilian (November 1, 1996). "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. S2CID 20946001.
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). "Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas". Nature Genetics. 16 (1): 68–73. doi:10.1038/ng0597-68. ISSN 1546-1718. PMID 9140397.
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). "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. PMC 2889916. PMID 11685205.
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). "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. PMC 2893213. PMID 16236740.
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). "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. PMID 9843207. S2CID 31062371.
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). "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. S2CID 20137905.
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). "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. S2CID 19880326.
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). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–772. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. ISSN 0036-8075. PMC 2882961. PMID 12690205.
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). "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. S2CID 8277795.
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 7, 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nature Genetics. 35 (2): 125–127. doi:10.1038/ng1238. ISSN 1546-1718. PMID 12958597. S2CID 32590557.
Iafrate, A. John; Feuk, Lars; Rivera, Miguel N.; Listewnik, Marc L.; Donahoe, Patricia K.; Qi, Ying; Scherer, Stephen W.; Lee, Charles (August 1, 2004). "Detection of large-scale variation in the human genome". Nature Genetics. 36 (9): 949–951. doi:10.1038/ng1416. ISSN 1546-1718. PMID 15286789.
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). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–454. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. ISSN 1476-4687. PMC 2669898. PMID 17122850.
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). "Origins and functional impact of copy number variation in the human genome". Nature. 464 (7289): 704–712. doi:10.1038/nature08516. ISSN 1476-4687. PMC 3330748. PMID 19812545.
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). "Genome assembly comparison identifies structural variants in the human genome". Nature Genetics. 38 (12): 1413–1418. doi:10.1038/ng1921. ISSN 1546-1718. PMC 2674632. PMID 17115057.
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). "The Diploid Genome Sequence of an Individual Human". PLOS Biology. 5 (10): e254. doi:10.1371/journal.pbio.0050254. ISSN 1545-7885. PMC 1964779. PMID 17803354.
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). "Mapping autism risk loci using genetic linkage and chromosomal rearrangements". Nature Genetics. 39 (3): 319–328. doi:10.1038/ng1985. ISSN 1546-1718. PMC 4867008. PMID 17322880.
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). "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. PMC 2426913. PMID 18252227.
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). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–372. Bibcode:2010Natur.466..368P. doi:10.1038/nature09146. hdl:10400.18/214. ISSN 1476-4687. PMC 3021798. PMID 20531469.
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). "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. S2CID 205356656.
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). "Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability". Science Translational Medicine. 2 (49): 49ra68. doi:10.1126/scitranslmed.3001267. ISSN 1946-6234. PMC 2987731. PMID 20844286.
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). "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. PMC 3257896. PMID 22209245.
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). "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. PMC 3376495. PMID 22503632.
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). "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. PMC 3738824. PMID 23849776.
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). "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. PMC 4067558. PMID 24768552.
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). "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. S2CID 12729162 – via PubMed.
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, 2015). "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.
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). "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. S2CID 29439880 – via PubMed.
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). "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. PMC 5501701. PMID 28263302.
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). "Genome-wide detection of tandem DNA repeats that are expanded in autism". Nature. 586 (7827): 80–86. Bibcode:2020Natur.586...80T. doi:10.1038/s41586-020-2579-z. ISSN 1476-4687. PMC 9348607. PMID 32717741.
Cook, Edwin H.; Scherer, Stephen W. (October 16, 2008). "Copy-number variations associated with neuropsychiatric conditions". Nature. 455 (7215): 919–923. Bibcode:2008Natur.455..919C. doi:10.1038/nature07458. ISSN 1476-4687. PMID 18923514. S2CID 4377899.
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.). Vol. 838. pp. 115–135. doi:10.1007/978-1-61779-507-7_5. ISBN 978-1-61779-506-0. ISSN 1940-6029. PMID 22228009.
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). "Autism spectrum disorder: advances in evidence-based practice". Canadian Medical Association Journal. 186 (7): 509–519. doi:10.1503/cmaj.121756. ISSN 1488-2329. PMC 3986314. PMID 24418986.
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. S2CID 231634644.
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). "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. PMC 10726699. PMID 36368308.
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). "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. PMC 5798982. PMID 29431110.

ncbi.nlm.nih.gov

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). "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. PMC 2889916. PMID 11685205.
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). "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. PMC 2893213. PMID 16236740.
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). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–772. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. ISSN 0036-8075. PMC 2882961. PMID 12690205.
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). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–454. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. ISSN 1476-4687. PMC 2669898. PMID 17122850.
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). "Origins and functional impact of copy number variation in the human genome". Nature. 464 (7289): 704–712. doi:10.1038/nature08516. ISSN 1476-4687. PMC 3330748. PMID 19812545.
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). "Genome assembly comparison identifies structural variants in the human genome". Nature Genetics. 38 (12): 1413–1418. doi:10.1038/ng1921. ISSN 1546-1718. PMC 2674632. PMID 17115057.
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). "The Diploid Genome Sequence of an Individual Human". PLOS Biology. 5 (10): e254. doi:10.1371/journal.pbio.0050254. ISSN 1545-7885. PMC 1964779. PMID 17803354.
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). "Mapping autism risk loci using genetic linkage and chromosomal rearrangements". Nature Genetics. 39 (3): 319–328. doi:10.1038/ng1985. ISSN 1546-1718. PMC 4867008. PMID 17322880.
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). "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. PMC 2426913. PMID 18252227.
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). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–372. Bibcode:2010Natur.466..368P. doi:10.1038/nature09146. hdl:10400.18/214. ISSN 1476-4687. PMC 3021798. PMID 20531469.
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). "Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability". Science Translational Medicine. 2 (49): 49ra68. doi:10.1126/scitranslmed.3001267. ISSN 1946-6234. PMC 2987731. PMID 20844286.
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). "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. PMC 3257896. PMID 22209245.
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). "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. PMC 3376495. PMID 22503632.
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). "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. PMC 3738824. PMID 23849776.
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). "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. PMC 4067558. PMID 24768552.
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). "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. PMC 5501701. PMID 28263302.
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). "Genome-wide detection of tandem DNA repeats that are expanded in autism". Nature. 586 (7827): 80–86. Bibcode:2020Natur.586...80T. doi:10.1038/s41586-020-2579-z. ISSN 1476-4687. PMC 9348607. PMID 32717741.
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). "Autism spectrum disorder: advances in evidence-based practice". Canadian Medical Association Journal. 186 (7): 509–519. doi:10.1503/cmaj.121756. ISSN 1488-2329. PMC 3986314. PMID 24418986.
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). "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. PMC 10726699. PMID 36368308.
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). "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. PMC 5798982. PMID 29431110.

ontario.ca

news.ontario.ca

"Ontario Newsroom". news.ontario.ca. Retrieved December 27, 2023.

pbs.org

"This search engine could help unlock autism's secrets". PBS NewsHour. October 21, 2015. Retrieved December 27, 2023.

prnewswire.com

"Thomson Reuters Predicts 2014 Nobel Laureates, Researchers Forecast for Nobel Recognition". www.prnewswire.com (Press release). Reuters. Retrieved December 22, 2023.

rsc-src.ca

"Member Directory". The Royal Society of Canada. Retrieved December 27, 2023.

semanticscholar.org

api.semanticscholar.org

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). "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. S2CID 23432640.
Roessler, Erich; Belloni, Elena; Gaudenz, Karin; Jay, Philippe; Berta, Philippe; Scherer, Stephen W.; Tsui, Lap-Chee; Muenke, Maximilian (November 1, 1996). "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. S2CID 20946001.
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). "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. PMID 9843207. S2CID 31062371.
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). "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. S2CID 20137905.
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). "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. S2CID 19880326.
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). "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. S2CID 8277795.
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 7, 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nature Genetics. 35 (2): 125–127. doi:10.1038/ng1238. ISSN 1546-1718. PMID 12958597. S2CID 32590557.
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). "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. S2CID 205356656.
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). "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. S2CID 12729162 – via PubMed.
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). "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. S2CID 29439880 – via PubMed.
Cook, Edwin H.; Scherer, Stephen W. (October 16, 2008). "Copy-number variations associated with neuropsychiatric conditions". Nature. 455 (7215): 919–923. Bibcode:2008Natur.455..919C. doi:10.1038/nature07458. ISSN 1476-4687. PMID 18923514. S2CID 4377899.
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. S2CID 231634644.

sfari.org

"SFARI | SFARI Gene to introduce EAGLE, a new ASD-relevance gene scoring system". SFARI. December 10, 2021. Retrieved December 27, 2023.

sickkids.ca

"Scientific & Academic Chairs". SickKids. Retrieved December 27, 2023.

sigmachi.ca

"Distinguished Brothers". Sigma Chi Canadian Foundation. Retrieved December 27, 2023.

steacieprize.ca

"Recipients – Steacie Prize for Natural Sciences". steacieprize.ca. Retrieved December 27, 2023.

tcag.ca

dgv.tcag.ca

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

theglobeandmail.com

Carolyn Abraham (November 23, 2006). "Study turns human genetics on its head". The Globe and Mail.
"Scientists map genome of beaver as gift for Canada's 150th birthday". The Globe and Mail. January 13, 2017. Retrieved December 27, 2023.
"Cracks in the code: Why mapping your DNA may be less reliable than you think". The Globe and Mail. February 3, 2018. Retrieved December 27, 2023.
"Toronto Sick Kids geneticist named potential Nobel Prize recipient". The Globe and Mail. September 24, 2014. Retrieved December 27, 2023.

un.org

"World Autism Awareness Day, 2 April". www.un.org. Retrieved December 27, 2023.

utoronto.ca

provost.utoronto.ca

"Complete List of University Professors – Division of the Vice-President & Provost". Retrieved December 22, 2023.
"Stephen Scherer – Division of the Vice-President & Provost". Retrieved December 22, 2023.

utoronto.ca

"U of T researchers awarded Killam Prizes for contributions to humanities, health sciences | University of Toronto". www.utoronto.ca. Retrieved December 27, 2023.

uwaterloo.ca

"Science Alumni of Honour Award: 50th Anniversary | Science". uwaterloo.ca. Retrieved December 27, 2023.
"Alumni Profile: Stephen W. Scherer | Science". uwaterloo.ca. Retrieved December 27, 2023.

uwindsor.ca

"University of Windsor Honorary Degrees Conferred" (PDF). University of Windsor.

uwo.ca

mediarelations.uwo.ca

University, Department of Communications and Public Affairs, Western (April 10, 2018). "Western to honour global science, business, entertainment and sport leaders at 311th Convocation". Media Relations. Retrieved December 27, 2023.{{cite web}}: CS1 maint: multiple names: authors list (link)

worldcat.org

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). "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. S2CID 23432640.
Roessler, Erich; Belloni, Elena; Gaudenz, Karin; Jay, Philippe; Berta, Philippe; Scherer, Stephen W.; Tsui, Lap-Chee; Muenke, Maximilian (November 1, 1996). "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. S2CID 20946001.
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). "Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas". Nature Genetics. 16 (1): 68–73. doi:10.1038/ng0597-68. ISSN 1546-1718. PMID 9140397.
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). "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. PMC 2889916. PMID 11685205.
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). "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. PMC 2893213. PMID 16236740.
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). "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. PMID 9843207. S2CID 31062371.
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). "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. S2CID 20137905.
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). "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. S2CID 19880326.
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). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–772. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. ISSN 0036-8075. PMC 2882961. PMID 12690205.
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). "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. S2CID 8277795.
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 7, 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nature Genetics. 35 (2): 125–127. doi:10.1038/ng1238. ISSN 1546-1718. PMID 12958597. S2CID 32590557.
Iafrate, A. John; Feuk, Lars; Rivera, Miguel N.; Listewnik, Marc L.; Donahoe, Patricia K.; Qi, Ying; Scherer, Stephen W.; Lee, Charles (August 1, 2004). "Detection of large-scale variation in the human genome". Nature Genetics. 36 (9): 949–951. doi:10.1038/ng1416. ISSN 1546-1718. PMID 15286789.
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). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–454. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. ISSN 1476-4687. PMC 2669898. PMID 17122850.
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). "Origins and functional impact of copy number variation in the human genome". Nature. 464 (7289): 704–712. doi:10.1038/nature08516. ISSN 1476-4687. PMC 3330748. PMID 19812545.
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). "Genome assembly comparison identifies structural variants in the human genome". Nature Genetics. 38 (12): 1413–1418. doi:10.1038/ng1921. ISSN 1546-1718. PMC 2674632. PMID 17115057.
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). "The Diploid Genome Sequence of an Individual Human". PLOS Biology. 5 (10): e254. doi:10.1371/journal.pbio.0050254. ISSN 1545-7885. PMC 1964779. PMID 17803354.
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). "Mapping autism risk loci using genetic linkage and chromosomal rearrangements". Nature Genetics. 39 (3): 319–328. doi:10.1038/ng1985. ISSN 1546-1718. PMC 4867008. PMID 17322880.
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). "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. PMC 2426913. PMID 18252227.
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). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–372. Bibcode:2010Natur.466..368P. doi:10.1038/nature09146. hdl:10400.18/214. ISSN 1476-4687. PMC 3021798. PMID 20531469.
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). "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. S2CID 205356656.
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). "Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability". Science Translational Medicine. 2 (49): 49ra68. doi:10.1126/scitranslmed.3001267. ISSN 1946-6234. PMC 2987731. PMID 20844286.
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). "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. PMC 3257896. PMID 22209245.
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). "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. PMC 3376495. PMID 22503632.
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). "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. PMC 3738824. PMID 23849776.
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). "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. PMC 4067558. PMID 24768552.
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). "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. S2CID 12729162 – via PubMed.
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, 2015). "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.
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). "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. S2CID 29439880 – via PubMed.
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). "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. PMC 5501701. PMID 28263302.
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). "Genome-wide detection of tandem DNA repeats that are expanded in autism". Nature. 586 (7827): 80–86. Bibcode:2020Natur.586...80T. doi:10.1038/s41586-020-2579-z. ISSN 1476-4687. PMC 9348607. PMID 32717741.
Cook, Edwin H.; Scherer, Stephen W. (October 16, 2008). "Copy-number variations associated with neuropsychiatric conditions". Nature. 455 (7215): 919–923. Bibcode:2008Natur.455..919C. doi:10.1038/nature07458. ISSN 1476-4687. PMID 18923514. S2CID 4377899.
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.). Vol. 838. pp. 115–135. doi:10.1007/978-1-61779-507-7_5. ISBN 978-1-61779-506-0. ISSN 1940-6029. PMID 22228009.
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). "Autism spectrum disorder: advances in evidence-based practice". Canadian Medical Association Journal. 186 (7): 509–519. doi:10.1503/cmaj.121756. ISSN 1488-2329. PMC 3986314. PMID 24418986.
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. S2CID 231634644.
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). "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. PMC 10726699. PMID 36368308.
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). "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. PMC 5798982. PMID 29431110.

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SickKids researchers sequence genome of the Canadian beaver, April 25, 2017, retrieved December 27, 2023
CBC Autism Research Story January 26 2015, January 28, 2015, retrieved December 27, 2023
Stephen Scherer: DNA Testing for Autism, October 27, 2010, retrieved December 27, 2023
Part 1. OBI/CIFAR Public Lecture on Autism, Presented by Autism Speaks, March 12, 2013, retrieved December 27, 2023
After Darwin (1999) | Full Movie | Lewis Wolpert | Benno Muller-Hill | Troy Duster | Andrea Shugar, August 24, 2020, retrieved December 27, 2023
"SickKids Discovery Dialogues - YouTube". www.youtube.com. Retrieved December 27, 2023.
Western Convocation - June 14, 2018 - Stephen Scherer, June 18, 2018, retrieved December 27, 2023