Publications

  • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
    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 American Journal of Human Genetics 93, 249-263
  • Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
    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 Nature Genetics 46, 742-747
  • RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
    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 Science 347, 1254806
  • Whole-genome sequencing of quartet families with autism spectrum disorder
    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 Nature Medicine 21, 185-191
  • Autism sibling differences
    Jones B
    2015 Nature Reviews Genetics 16, 130
  • Theory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age
    Tsang T, Gillespie-Lynch K, and Hutman T
    2016 Autism Research and Treatment 6309189
  • Atoms, bits and cells
    Glazer D
    2015 Applied & Translational Genomics 6, 11-14
  • Autism spectrum disorders: Integration of the genome, transcriptome and the environment
    Vijayakumar NT and Judy MV
    Journal of the Neurological Sciences 364, 167-176
  • CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders
    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 Molecular Psychiatry 22, 625-633
  • Genome-wide characteristics of de novo mutations in autism
    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 npj Genomic Medicine 1, 16027
  • Phenotyping, Etiological Factors and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders
    Beversdorf DQ and Missouri Autism Summit Consortium
    2016 Journal of Developmental and Behavioral Pediatrics 37, 659-673
  • Registered access: a ‘Triple-A’ approach
    Dyke SOM, Kirby E, Shabani M, Thorogood A, Kato K and Knoppers BM
    2016 European Journal of Human Genetics 24, 1676-1680
  • DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants
    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 Cell Reports 17, 1892-1904
  • Resources available for autism research in the big data era: a systematic review
    l-jawahiri R and Milne E
    2017 PeerJ 5, e2880
  • Public-Private partnerships in cloud-computing services in the context of genomic research
    Moreno PG, Joly Y and Knoppers BM
    2017 Frontiers in Medicine 4, 3
  • Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
    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 Nature Neuroscience 20, 602-611
  • A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder
    Tsiplova K, Zur RM, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SWandUngar WJ
    2017 Genetics In Medicine 19, 1268
  • Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
    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 npj Genomic Medicine 115012
  • The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders
    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 Molecular Autism 8, 24
  • Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 austism disorder susceptibility genes
    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 npj Genomic Medicine 2, 17
  • Bio-collections in autism research
    Reilly J, Gallagher L, Chen JL, Leader G and Shen S
    2017 Molecular Autism 8, 34
  • Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder
    Hoang N, Cytrynbaum CandScherer SW
    2018 Patient Education and Counseling 101, 352-361
  • Human genomics projects and precision medicine
    Carrasco-Ramiro F, Peiró-Pastor RandAguado B
    2017 Gene Therapy 24, 551
  • Genomic disorders in Psychiatry - What does a clinican Need to know?
    Lowther C, Costain G, Baribeau DA, and Bassett AS
    2017 Current Psychiatry Reports 19, 82
  • Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
    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 Molecular Autism 8, 59
  • Facilitating Autism Research
    Fein D, and Helt M
    2017 Journal of the International Neuropsychological Society, 23(9-10), 903-915
  • Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
    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 npj Genomic Medicine 2, 28
  • Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
    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 Neurology Genetics 3
  • A comprehensive workflow for read depth-based identification of copy number variation from whole-genome sequence data
    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 American Journal of Human Genetics 102, 142-155
  • OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
    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 American Journal of Human Genetics 102, 278-295
  • Translating genetic and preclinical findings into autism therapies
    Chahrour M, Keliman RJ, and Manzini CM
    2018 Dialogues in Clinical Neuroscience 19, 335-343
  • Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling
    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 Molecular Psychiatry
  • Brain-specific functional relationship networks inform autism spectrum disorder gene prediction
    Duda M, Zhang H, Li H-D, Wall DP, Burmeister M and Guan Y
    2018 Translational psychiatry 8, 56
  • Paternally inherited cis-regulatory structural variants contribute to autism
    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 Science 360, 327-331
  • Genomic data sharing in Canada: flying under the regulatory radar?
    Thorogood A
    2018 Human Genetics 137