Publications

  • Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, and Scherer SW. (2013). Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. American Journal of Human Genetics 93, 249-263.
  • Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RK, and Scherer SW. (2014). Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. Nature Genetics 46, 742-747.
  • Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, and Frey BJ. (2015). RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science 347, 1254806.
  • Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone MJ, D'Abate L, Deneault E, Howe JL, Liu RS, Thompson A, Zarrei M, Uddin M, Marshall CR, Ring RH, Zwaigenbaum L, Ray PN, Weksberg R, Carter MT, Fernandez BA, Roberts W, Szatmari P, and Scherer SW. (2015). Whole-genome sequencing of quartet families with autism spectrum disorder. Nature Medicine 21, 185-191.
  • Jones B. (2015) Autism sibling differences. Nature Reviews Genetics 16, 130.
  • Tsang T, Gillespie-Lynch K, and Hutman T. (2016). Theory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age. Autism Research and Treatment 6309189.
  • Glazer D. (2015). Atoms, bits and cells. Applied & Translational Genomics 6, 11-14
  • Vijayakumar NT and Judy MV. Autism spectrum disorders: Integration of the genome, transcriptome and the environment. Journal of the Neurological Sciences 364, 167-176.
  • Mercati O, Huguet G, Danckaert A, Andre-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RK, Walker S, Delepine M, Boland A, Regnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloez-Tayarani I, and Bourgeron T. (2017). CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Molecular Psychiatry 22, 625-633.
  • Yuen RKC, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan AJS, D’Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, and Scherer SW. (2016). Genome-wide characteristics of de novo mutations in autism. Npj Genomic Medicine 1, 16027.
  • Beversdorf DQ and Missouri Autism Summit Consortium. (2016). Phenotyping, Etiological Factors and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders. Journal of Developmental and Behavioral Pediatrics 37, 659-673.
  • Dyke SOM, Kirby E, Shabani M, Thorogood A, Kato K and Knoppers BM. (2016). Registered access: a ‘Triple-A’ approach. European Journal of Human Genetics 24, 1676-1680.
  • Kwan V, Meka DP, White SH, Hung CL, Holzapfel NT, Walker S, Murtaza N, Unda BK, Schwanke B, Yuen RK, Habing K, Milsom C, Hope KJ, Truant R, Scherer SW, Calderon de Anda F, and Singh KK. (2016). DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants. Cell Reports 17, 1892-1904.
  • l-jawahiri R and Milne E. (2017) Resources available for autism research in the big data era: a systematic review. PeerJ 5, e2880
  • Moreno PG, Joly Y and Knoppers BM. (2017). Public-Private partnerships in cloud-computing services in the context of genomic research. Frontiers in Medicine 4, 3.
  • Yuen RKC, Merico D, Bookman M, Howe JL, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, and Scherer SW. (2017). Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature Neuroscience 20, 602-611.
  • Tsiplova K, Zur RM, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SWandUngar WJ. (2017). A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder. Genetics In Medicine 19, 1268.
  • Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim RH, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, and Marshall CR. (2016). Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. Npj Genomic Medicine 115012.
  • Loth E, Charman T, Mason L, Tillmann J, Jones EJH, Wooldridge C, Ahmad J, Auyeung B, Brogna C, Ambrosino S, Banaschewski T, Baron-Cohen S, Baumeister S, Beckmann C, Brammer M, Brandeis D, Bolte S, Bourgeron T, Bours C, de Bruijn Y, Chakrabarti B, Crawley D, Cornelissen I, Acqua FD, Dumas G, Durston S, Ecker C, Faulkner J, Frouin V, Garces P, Goyard D, Hayward H, Ham LM, Hipp J, Holt RJ, Johnson MH, Isaksson J, Kundu P, Lai MC, D'Ardhuy X L, Lombardo MV, Lythgoe DJ, Mandl R, Meyer-Lindenberg A, Moessnang C, Mueller N, O'Dwyer L, Oldehinkel M, Oranje B, Pandina G, Persico AM, Ruigrok ANV, Ruggeri B, Sabet J, Sacco R, Caceres ASJ, Simonoff E, Toro R, Tost H, Waldman J, Williams SCR, Zwiers MP, Spooren W, Murphy DGM, and Buitelaar JK. (2017). The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders. Molecular Autism 8, 24.
  • Woodbury-Smith M, Nicolson R, Zarrei M, Yuen RK, Walker S, Howe JL, Uddin M, Hoang N, Buchanan J, Chrysler C, Thompson A, Pzatmari P, Scherer SW. (2017) Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 austism disorder susceptibility genes. npj Genomic Medicine 2, 17.
  • Reilly J, Gallagher L, Chen JL, Leader G and Shen S. (2017). Bio-collections in autism research. Molecular Autism 8, 34.
  • Hoang N, Cytrynbaum CandScherer SW. (2018). Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. Patient Education and Counseling 101, 352-361.
  • Carrasco-Ramiro F, Peiró-Pastor RandAguado B. (2017). Human genomics projects and precision medicine. Gene Therapy 24, 551.
  • Lowther C, Costain G, Baribeau DA, and Bassett AS. (2017) Genomic disorders in Psychiatry - What does a clinican Need to know? Current Psychiatry Reports19, 82.
  • Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari PandScherer SW. (2017). Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. Molecular Autism 8, 59.
  • Fein D, and Helt M. (2017). Facilitating Autism Research. Journal of the International Neuropsychological Society, 23(9-10), 903-915.
  • Dale B, Modi BM, Jilderda S, McConnell B, Hoang N, Swaroop P, Falcon J, Thiruvahindrapuram B, Walker S, Scherer SW, Stavropoulos DJ, Drmic IE and Carter MT. (2017). Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage. npj Genomic Medicine 2, 28.
  • Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SWandBoelman C. (2017). Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurology Genetics 3.
  • Trost B, Walker S, Wang Z, Thiruvahindrapurm B, MacDonald JR, Sung WWL, Pereira SL, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC, Marshall CR, Merico D and Scherer SW. (2018). A comprehensive workflow for read depth-based identification of copy number variation from whole-genome sequence data. American Journal of Human Genetics 102, 142-155.
  • Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D’Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SWandSingh KK. (2018). OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. American Journal of Human Genetics 102, 278-295.
  • Chahrour M, Keliman RJ, and Manzini CM. (2018). Translating genetic and preclinical findings into autism therapies. Dialogues in clinical neuroscience 19, 335-343.
  • Richter M, Murtaza N, Scharrenberg R, White SH, Johanns O, Walker S, Yuen RKC, Schwanke B, Bedürftig B, Henis M, Scharf S, Kraus V, Dörk R, Hellmann J, Lindenmaier Z, Ellegood J, Hartung H, Kwan V, Sedlacik J, Fiehler J, Schweizer M, Lerch JP, Hanganu-Opatz IL, Morellini F, Scherer SW, Singh KKandCalderon de Anda F. (2018). Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. Molecular Psychiatry.
  • Duda M, Zhang H, Li H-D, Wall DP, Burmeister M and Guan Y. (2018). Brain-specific functional relationship networks inform autism spectrum disorder gene prediction. Translational psychiatry 8, 56.
  • Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courhesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C and Sebat J. (2018). Paternally inherited cis-regulatory structural variants contribute to autism. Science 360, 327-331
  • Thorogood A. (2018). Genomic data sharing in Canada: flying under the regulatory radar? Human Genetics [ePub ahead of print]