{"id":10,"date":"2018-07-23T14:21:56","date_gmt":"2018-07-23T14:21:56","guid":{"rendered":"https:\/\/lab.research.sickkids.ca\/yuen\/?page_id=10"},"modified":"2026-03-26T15:30:38","modified_gmt":"2026-03-26T19:30:38","slug":"publications","status":"publish","type":"page","link":"https:\/\/lab.research.sickkids.ca\/yuen\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"

Dr. Yuen’s Google Scholar<\/a>
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2025<\/strong><\/h3>\n

Burton C, Choi Y, Yin Y<\/strong>, Kelley E, Lerch J, Anagnostou E, Scherer SH, Arnold P, Schachar R, Crosbie J, Yuen RKC<\/strong>.W52. WHOLE GENOME ANALYSIS OF TRIO FAMILIES WITH A CHILD WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER AND\/OR OBSESSIVE-COMPULSIVE DISORDER.<\/a>European Neuropsychopharmacology<\/strong>.2025.https:\/\/doi.org\/10.1016\/j.euroneuro.2025.08.414<\/p>\n

Andrade DM, Berg AT, Selvarajah A, Sabo A, Gorodetsky C, Marques PT, Chandran I, Thompson M, Ali QZ, McAndrews MP, Tartaglia MC,Lira VST, Huh L,\u00a0 Connolly M, Rezazadeh A, Qaiser F, Fantaneanu TA, Duong M, Barboza K, Lomax LB, Nakaharada LI, Arbinuch J, Espindola M, Garzon E, Sorrento G, Meskis MA, Villas N, Hood V, Gonzalez M, Cardenal\u2010Mu\u00f1oz E, Aibar JA, McKenna L, Linehan C, Yuen RKC,<\/strong>Taati B, Fasano A, Devinsky O, Valente K.Evidence demands action: An invitation to share the burden of proof<\/a>.Epilepsia. 2025. https:\/\/doi.org\/10.1111\/epi.18583<\/a><\/p>\n

Mitina A<\/strong>, Ehgchuan W, Trost B,Pellecchia G, Scherer SW, Yuen RKC<\/strong>.Diverse short tandem repeat sequences influence gene regulation in human populations<\/a>.Genome Biol<\/i><\/strong> .2025. https:\/\/doi.org\/10.1186\/s13059-025-03754-9<\/p>\n

Ying S, Heung T, Morrow BE, Thiruvahindrapuram B, Yuen RKC<\/strong>, Bassett AS.Influence of polygenic risk on height and BMI in adults with a 22q11. 2 microdeletion.<\/a>Journal of the Endocrine Society<\/em><\/strong>.2025, bvaf115. https:\/\/doi.org\/10.1210\/jendso\/bvaf115<\/a><\/p>\n

Engchuan W, Shanta O, Kumar K, MacDonald JR, Thiruvahindrapuram B, Hamdan O, Klein M, Maihofer A, Guevara J, Hong O, Huguet G, Sacks M, Ahangari M, Feitosa RMMW, Han K, Mendes M, Zhou X, Bautista NX, Pellecchia G, Wang Z, Merico D, Yuen RKC,<\/strong> Trost B, S\u00f8nderby I, Adams MJ, Adolfsson R, Agartz I, Aiello AE, Alda M, Allardyce J, Amstadter AB, Andlauer TFM, Andreassen OA, Artigas MS, Austin SB, Ayub M, Baker DG, Bass N, Baune BT, Bayas M, Berger K, Biernacka JM, Bigdeli T, Bisson JI, Blackwood D, Boks M, Braff D, Bramon E, Breen G, Brueckl T, Bryant RA, Bulik CM, Buxbaum J, Cairns MJ, Caldas-de-Almeida JM, Campbell M, Campion D, Carr VJ, Castelao E, Chaumette B, Cichon S, Cohen D, Corvin A, Craddock N, Crosbie J, Czamara D, Dannlowski U, Degenhardt F, Delahanty DL, Dempfle A, Desachy G, Di Florio A, Dickerson FB, Djurovic S, Domschke K, Douglas L, Drange OK, Duncan LE, Edenberg HJ, Esko T, Faraone S, Feeny NC, Forstner AJ, Franke B, Frye M, Fu DJ, Fullerton JM, Gareeva A, Garvert L, Gatt JM, Gejman P, Geschwind DH, Giegling I, Glatt SJ, Glessner J, Goes FS, Gordon-Smith K, Grabe H, Green MJ, Green MF, Greenwood T, Grigoroiu-Serbanescu M, Gur RE, Gur RC, Guzman-Parra J, Haavik J, Hahn T, Hakonarson H, Hallmayer J, Hamshere ML, Hartmann AM, Hassan A, Hayward C, Hebebrand J, Hemmings SMJ, Herms S, Herrera-Rivero M, Hinney A, Homuth G, Ingason A, Ito LT, Iwata N, Jones I, Jones LA, Jonsson L, J\u00f6nsson EG, Kahn RS, Karlsson R, Kaufman ML, Kelsoe JR, Kennedy JL, King A, Kircher T, Kirov G, Knappskog P, Knowles JA, Kobayashi N, Koenen KC, Konte B, Korgaonkar M, Kowalec K, Krebs MO, Land\u00e9n M, Laurent-Levinson C, Lebois LA, Levinson D, Lewis C, Li Q, Liberzon I, Light G, Loo SK, Lu Y, Lucae S, Marmar C, Martin NG, Mayoral F, McIntosh AM, McLaughlin KA, McLean SA, McQuillin A, Medland SE, Meyer-Lindenberg A, Milanova V, Mitchell PB, Molina E, Mowry B, Muller-Myhsok B, Mullins N, Murray R, N\u00f6then MM, Nurnberger JI Jr, O’Connell KS, Ophoff RA, Orcutt HK, Owen MJ, Palotie A, Pato C, Pato M, Pawlak J, Peters T, Petryshen TL, Pistis G, Potash JB, Powell J, Preisig M, Quested D, Ramos-Quiroga JA, Reif A, Ressler KJ, Ribas\u00e9s M, Rietschel M, Risbrough VB, Rivera M, Rothbaum AO, Rothbaum BO, Rujescu D, Saito T, Sanders AR, Schachar RJ, Schofield PR, Schulte EC, Schulze TG, Scott LJ, Seedat S, Sheerin C, Shi J, Sklar P, Smalley S, Smeland OB, Smoller JW, Sonuga-Barke E, Clair DS, Steen NE, Stein D, Stein F, Stein MB, Streit F, Swerdlow N, Thibaut F, Thygesen JH, Timerbulatov I, Toma C, Trapido E, Tremblay M, Tsuang MT, Uddin M, Vawter MP, Vincent JB, V\u00f6lzke H, Walters JT, Weickert CS, Weiss LA, Weissman MM, Werge T, Witt SH, Xavier M, Yolken R, Young RM, Zayats T, Zoellner LA; AGP Consortium, PEIC Psychosis Endophenotypes International Consortium; ADHD Working Group of the Psychiatric Genomics Consortium; Autism Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; PTSD Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; CNV Working Group of the Psychiatric Genomics Consortium; Kendall K, Riley B, Wray NR, O’Donovan MC, Sullivan PF, Sanchez-Roige S, Nievergelt CM, Jacquemont S, Scherer SW, Sebat J. Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects<\/a>. medRxiv [Preprint]. 2025 Jul 16:2025.07.11.25331381. doi: 10.1101\/2025.07.11.25331381. PMID: 40791676; PMCID: PMC12338884.<\/p>\n

Bassett AS and Yuen RKC<\/strong>. Beyond Psychiatric Outcomes: Effects of Copy Number Variations on Human Health Across the Lifespan<\/a>. Biological Psychiatry<\/strong><\/em>.2025.<\/p>\n

Sznajder \u0141 J, Khan M<\/strong>, Ciesio\u0142ka A, Tadross M, Nutter CA, Taylor K, Pearson CE, Lewis MH, Hines RM, Swanson MS, Sobczak K, Yuen RKC<\/strong>. Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes<\/a>.\u00a0Nature Neuroscience<\/strong>.<\/em> 2025. DOI: 101038\/s41593-025-01943-0<\/p>\n

Th\u00e9berge ET, Durbano K, Demailly D, Huby S, Mitina A<\/strong>, Yin Y<\/strong>, Mohajeri A, van Karnebeek C, Horvath G \u00a0A, Yuen RKC<\/strong>, Usdin K, Lehman A, Cif L, Richmond PA. Disco\u2010Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder<\/a>. Movement Disorders<\/em><\/strong>. 2025. DOI: 10.1002\/mds.30101<\/p>\n

Selvarajah A, Sabo A, Gorodetsky C, Marques PT, Chandran I, Thompson M, Ali QZ, McAndrews MP, Tartaglia MC, Lira VST, Huh L, Connolly M, Rezazadeh A, Qaiser F, Fantaneanu TA, Duong M, Barboza K, Lomax LB, Nakaharada LI, Valente K, Arbinuch J, Espindola M, Garzon E, Sorrento G, Meskis MA, Villas N, Hood V, Gonzalez M, Cardenal-Mu\u00f1oz E, Aiba JA, McKenna L, Linehan C, Hohn S, Auvin S, Devinsky O, Yuen RKC<\/strong>, Berg AT, Taati B, Fasano A, Andrade DM. Dravet syndrome: From neurodevelopmental to neurodegenerative disease?<\/a> Epilepsia<\/em><\/strong>. 2025. DOI: 10.1111\/epi.18329<\/p>\n

Koko M, Satterstrom FK, Autism Sequencing Consortium<\/strong>, APEX consortium, Martin H, Warrier V. Contribution of autosomal rare and de novo variants to sex differences in autism.<\/a>\u00a0The American Journal of Human Genetics<\/em><\/strong>.\u00a0<\/em>2025.\u00a0<\/em>DOI: 10.1016\/j.ajhg.2024.03.008<\/p>\n<\/div>

2024<\/span><\/b><\/h2>\n

Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson M, Abell T, Philips EA, Sznajder \u0141, Swanson M, Mehkary M, Khan M<\/strong>, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC<\/strong>, Abrah\u00e3o A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CR. C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.<\/a> NAR Molecular Medicine<\/em><\/strong>. 2024. DOI: 10 1093\/narmme\/ugae019<\/p>\n

Engchuan W, Shanta O, Macdonald JR, Thiruvahindrapuram B, Kumar K, Huguet G, Wang Z, Pellecchia G, Yuen RKC<\/strong>, Merico D, Jacquemont S, Scherer SW,\u00a0 Sebat J. Functional-based association study of rare CNVs across six psychiatric disorders in European, African, and east Asian populations.<\/a> European Neuropsychopharmacology<\/em><\/strong>. 2024. DOI: 10.1016\/j.euroneuro.2024.08.071<\/p>\n

Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switzer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe JL, Nalpathamkalam T, Manshaei R, Ghafari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Diamini N, Merico D, Hilali M, Hirschfeld K, Grover K, Bautista NX, Han K, Marshall CR, Yuen RKC<\/b>, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer SW. Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy<\/u><\/a>. Nature Genetics<\/i><\/b>. 2024. DOI: 10.1038\/s41588-024-01686-x<\/p>\n

Mitina A<\/b>, Khan M, Lesurf R, Yin Y<\/b>, Engchuan W, Hamdan O, Pellecchia G, Trost B, Backstrom I<\/b>, Guo K<\/b>, Pallotto LM<\/b>, Lam Doong PH<\/b>, Wang Z, Nalpathamkalam T, Thiruvahindrapuram B, Papaz T, Pearson CE, Ragoussis J, Subbarao P, Azad MB, Turvey SE, Mandhane P, Maraes TJ, Simons E, Scherer SW, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S, Yuen RKC<\/b>. Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy<\/u><\/a>. eBioMedicine<\/i><\/b>. 2024. DOI: 10.1016\/j.ebiom.2024.105027<\/p>\n<\/div>

2024<\/span><\/b><\/h2>\n

Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson M, Abell T, Philips EA, Sznajder \u0141, Swanson M, Mehkary M, Khan M<\/strong>, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC<\/strong>, Abrah\u00e3o A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CR. C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.<\/a> NAR Molecular Medicine<\/em><\/strong>. 2024. DOI: 10 1093\/narmme\/ugae019<\/p>\n

Engchuan W, Shanta O, Macdonald JR, Thiruvahindrapuram B, Kumar K, Huguet G, Wang Z, Pellecchia G, Yuen RKC<\/strong>, Merico D, Jacquemont S, Scherer SW,\u00a0 Sebat J. Functional-based association study of rare CNVs across six psychiatric disorders in European, African, and east Asian populations.<\/a> European Neuropsychopharmacology<\/em><\/strong>. 2024. DOI: 10.1016\/j.euroneuro.2024.08.071<\/p>\n

Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switzer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe JL, Nalpathamkalam T, Manshaei R, Ghafari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Diamini N, Merico D, Hilali M, Hirschfeld K, Grover K, Bautista NX, Han K, Marshall CR, Yuen RKC<\/b>, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer SW. Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy<\/u><\/a>. Nature Genetics<\/i><\/b>. 2024. DOI: 10.1038\/s41588-024-01686-x<\/p>\n

Mitina A<\/b>, Khan M, Lesurf R, Yin Y<\/b>, Engchuan W, Hamdan O, Pellecchia G, Trost B, Backstrom I<\/b>, Guo K<\/b>, Pallotto LM<\/b>, Lam Doong PH<\/b>, Wang Z, Nalpathamkalam T, Thiruvahindrapuram B, Papaz T, Pearson CE, Ragoussis J, Subbarao P, Azad MB, Turvey SE, Mandhane P, Maraes TJ, Simons E, Scherer SW, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S, Yuen RKC<\/b>. Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy<\/u><\/a>. eBioMedicine<\/i><\/b>. 2024. DOI: 10.1016\/j.ebiom.2024.105027<\/p>\n<\/div>

2023<\/span><\/b><\/h2>\n

Breetvelt E, Trost B, Engchuan W, Mendes de Aquino M, Safarian N, Thiruvahindrapuram B, Lai M-C, Yuen RKC<\/strong>, Gallagher L, Szatmari P, Scherer SH, Vorstman J. W55 Regional burden analysis of functional variants reveals genomic hotspots enriched for regulatory elements and overlapping with recurrent pathogenic CNVs<\/a>. European Neuropsychopharmacology<\/strong>. <\/em>2023.<\/em>\u00a0DOI: 10.1016\/j.euroneuro.2023.08.244<\/p>\n

Engchuan W, Thiruvahindrapuram B, MacDonald JR, Shanta O, Kumar K, Klein M, Huguet G, Wang Z, Pellecchia G, Yuen RKC<\/strong>, Merico D, Jacquemont S, Scherer SW, Sebat J, The Bipolar Disorder, Schizophrenia, Post-Traumatic Stress Disorder, Attention-Deficit\/Hyperactivity Disorder, Major Depressive Disorder, Autism Spectrum Disorder and Copy Number Variation Working Groups of the Psychiatric Genomics Consortium. Gene-based analysis of rare CNVs across six psychiatric disorders identifies common biological components but distinctly different genetic effects in autism and schizophrenia<\/a>. European Neuropsychopharmacology.<\/strong> 2024.<\/em>\u00a0DOI:10.1016\/j.euroneuro.2023.08.174<\/p>\n

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Ying S, Heung T, Thiruvahindrapuram B, Engchuan W, Yin Y<\/b>, Clagojevic C, Zhang Z, Hegele RA, Yuen RKC<\/b>, Bassett AS. Polygenic risk for triglyceride levels in the presence of a high impact rare variant<\/u><\/a>. BMC Medical Genomics<\/i><\/b>. 2023. DOI: 10.1186\/s12920-023-01717-2<\/p>\n

Asanad K, Greenfeld E, Scherer SW, Yuen RKC<\/b>, Marshall CR, Lo K, Mullen B, Lau S, Jarvi KA, Samplaski MK. Uncovering the association between complete AZFc microduplications and spermatogenic ability: the first reported series<\/a><\/u>. Cureus<\/i><\/b>. 2023. DOI: 10.7759\/cureus.51140<\/p>\n

Bassett AS, McDonald-McGinn DM, Boot E, \u00d3skarsd\u00f3ttir S, Yuen RKC<\/b>. Approaches to studying the impact of 22q11.2 copy number variants<\/a>.<\/i><\/u> The American Journal of Human Genetics<\/b><\/i>. 2023. DOI: 10.1016\/j.ajhg.2023.05.008 <\/b><\/i><\/u><\/p>\n

Zarrei M, Burton CL, Engchuan W, Higginbotham EJ, Wei J, Shaikh S, Roslin NM, MacDonald JR, Pellecchia G, Nalpathamkalam T, Lamoureux S, Manshaei R, Howe J, Trost B, Thiruvahindrapuram B, Marshall CR, Yuen RKC<\/b>, Wintle RF, Strug LJ, Stavropoulos DJ, Vorstman JAS, Arnold P, Merico D, Woodbury-Smith M, Crosbie J, Schachar R, Scherer SW. Gene copy number variation and pediatric mental health\/neurodevelopment in a general population<\/a><\/u>. Human Molecular Genetics<\/i><\/b>. 2023. DOI: 10.1093\/hmg\/ddad074<\/p>\n<\/div>\n<\/div>

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2022<\/span><\/b><\/h2>\n
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Erwin GS, G\u00fcrsoy G, Al-Abri R, Suriyaprakash A, Dolzhenko E, Zhu K, Hoerner CR, White SM, Ramirez L, Vadlakonda Ananya, Vadlakonda Alekhya, von Kraut K, Park J, Brannon CM, Sumano DA, Kirtikar RA, Erwin AA, Metzner TJ, Yuen RKC<\/b>, Fan AC, Leppert JT, Eberle MA, Gerstein M, Snyder MP. Recurrent repeat expansions in human cancer genomes<\/u><\/a>. Nature<\/b><\/i>. 2022. DOI: 10.1038\/s41586-022-05515-1<\/p>\n

Wen J, Trost B, Engchuan W, Halvorsen M, Pallotto LM<\/b>, Mitina A<\/b>, Ancalade N, Farrell M, Backstrom I<\/b>, Guo K<\/b>, Pellecchia G, Thiruvahindrapuram B, Giusti-Rodriguez P, Rosen JD, Li Y, Won H, Magnusson PKE, Gyllensten U, Bassett AS, Hultman CM, Sullivan PF, Yuen RKC<\/b>, Szatkiewicz JP. Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia<\/u><\/a>. Molecular Psychiatry<\/b><\/i>. 2022. DOI: 10.1038\/s41380-022-01857-4<\/p>\n

Trost B, Thiruvahindrapuram B, Chan A, Engchuan W, … Yuen RKC<\/b>, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Genomic architecture of autism from comprehensive whole-genome sequence annotation<\/u><\/a>. Cell<\/b><\/i>. 2022. DOI: 10.1016\/j.cell.2022.10.009<\/p>\n

Chan A, Engchuan W, Reuter MS, Wang Z, Thiruvahindrapuram B, Trost B, Nalpathamkalam T, Negrijn C, Lamoureux S, Pellecchia G, Patel RV, Sung WWL, MacDonald JR, Howe JL, Vorstman J, Sondheimer N, Takahashi N, Miles JH, Anagnostou E, Tammimies K, Zarrei M, Merico D, Stavropoulos DJ, Yuen RKC<\/b>, Fernandez BA, Scherer SW. Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder<\/u><\/a>. Nature Communications<\/b><\/i>. 2022. DOI: 10.1038\/s41467-022-34112-z<\/p>\n

Fu JM, … The Autism Sequencing Consortium, <\/b>… Talkowski ME. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism<\/u><\/a>. Nature Genetics<\/i><\/b>. 2022. DOI: 10.1038\/s41588-022-01104-0<\/p>\n

Mojarad BA<\/b>, Engchuan W, Trost B, Backstrom I<\/b>, Yin Y<\/b>, Thiruvahindrapuram B, Pallotto L<\/b>, Mitina A<\/b>, Khan M<\/b>, Pellecchia G, Haque B<\/b>, Guo K<\/b>, Heung T, Costain G, Scherer SW, Marshall CR, Pearson CE, Bassett AS, Yuen RKC<\/b>. Genome-wide tandem repeat expansions contribute to schizophrenia risk<\/u><\/a>. Molecular Psychiatry<\/b><\/i>. 2022. DOI: 10.1038\/s41380-022-01575-x<\/p>\n

Shengjie Y, Heung T, Zhang Z, Yuen RKC<\/b>, Bassett AS. Schizophrenia risk mediated by microRNA target genes overlapped by genome-wide rare copy number variation in 22q11.2 deletion syndrome<\/a><\/u>. Frontiers in Genetics<\/i><\/b>. 2022. DOI: 10.3389\/fgene.2022.812183<\/p>\n

Gall-Duncan T, Sato N, Yuen RKC<\/b>, Pearson CE. Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences<\/u><\/a>. Genome Research<\/b><\/i>. 2022. DOI: 10.1101\/gr.269530.120<\/p>\n<\/div>\n

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2021<\/span><\/b><\/h2>\n
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Deshmukh AL, Caron MC, Mohiuddin M, Lanni S, Panigrahi GB, Khan M<\/b>, Engchuan W, Shum N, Faruqui A, Wang P, Yuen RKC<\/b>, Nakamori M, Nakatani K, Masson J, Pearson CE. FAN1 exo- <\/i>not endo-<\/i>nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability<\/a><\/u>. Cell Reports<\/b><\/i>. 2021. DOI: 10.1016\/j.celrep.2021.110078<\/p>\n

Qaiser F<\/b>, Sadoway T, Yin Y<\/b>, Ali QZ, Nguyen CM<\/b>, Shum N, Backstrom I<\/b>, Marques PT, Tabarestani S, Munhoz RP, Krings T, Pearson CE, Yuen RKC*<\/b>, Andrade DM*. Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut Syndrome<\/a><\/u>. Brain Communications<\/i><\/b>. 2021. DOI: 10.1093\/braincomms\/fcab207
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Mojarad BA<\/b>, Yin Y<\/b>, Manshaei R, Backstrom I<\/b>, Costain G, Heung T, Merico D, Marshall CR, Bassett AS, Yuen RKC<\/b>. Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia<\/a><\/u>. Translational Psychiatry<\/b><\/i>. 2021. DOI: 10.1038\/s41398-021-01211-2<\/p>\n

Del Gobbo GF, Yin Y<\/b>, Choufani S, Butcher EA<\/b>, Wei J, Rajcan-Separovic E, Bos H, von Dadelszen P, Weksberg R, Robinson WP, Yuen RKC<\/b>. Genomic imbalances in the placenta are associated with poor fetal growth<\/a><\/u>. Molecular Medicine<\/b><\/i>. 2021. DOI: 10.1186\/s10020-020-00253-4<\/p>\n

Qaiser F<\/b>, Yin Y<\/b>, Mervis CB, Morris CA, Klein-Tasman BP, Tam E, Osborne LR, Yuen RKC<\/b>. Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype<\/a><\/u>. Orphanet Journal of Rare Diseases<\/i>.<\/b> 2021. DOI: 10.1186\/s13023-020-01648-6<\/p>\n

Hoang N, Yuen RKC<\/b>, Howe J, Drmic I, Ambrozewicz P, Russell C, Vorstman J, Weiss SK, Anagnostou E, Malow BA, Scherer SW. Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2<\/i> circadian rhythm gene<\/u><\/a>. American Journal of Medical Genetics<\/b><\/i>. 2021. DOI: 10.1002\/ajmg.a.62086<\/p>\n<\/div>\n<\/div>

2020<\/span><\/b><\/h2>\n

Manshaei R, Merico D, Reuter MS, Engchuan W, Mojarad BA<\/strong>, Chaturvedi R, Heung T, Pellecchia G, Zarrei M, Nalpathamkalam T, Khan R, Okello JBA, Liston E, Curtis M, Yuen RKC<\/strong>, Marshall CR, Jobling RK, Oechslin E, Wald RM, Silversides CK, Scherer SW, Kim RH, Bassett AS. Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences<\/a><\/u>. Frontiers in Genetics.<\/strong><\/em> 2020. DOI: 10.3389\/fgene.2020.00957<\/p>\n

Woodbury-Smith MR, Zarrei M, Wei J, Thiruvahindrapuram B, OConnor I, Paterson AD, Yuen RKC<\/strong>, Dastan J, Stavropoulos DJ, Howe JH, Thompson A, Parlier M, Fernandez B, Piven J, Anagnostou E, Scherer SW, Vieland VJ, Szatmari P. Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees<\/a><\/u>. American Journal of Medical Genetics: Part B Neuropsychiatric Genetics<\/strong><\/em>. 2020. DOI: 10.1002\/ajmg.b.32785<\/p>\n

Ross PJ, Zhang WB, Mok RSF, Zaslavsky K, Deneault E, D\u2019Abate L, Rodrigues DC, Yuen RKC<\/strong>, Faheem M, Mufteev M, Piekna A, Wei W, Pasceri P, Landa RJ, Nagy A, Varga B, Salter MS, Scherer SW, Ellis J. Synaptic dysfunction in human neurons with autism-associated deletions in PTCHD1-AS<\/u><\/a>. Biological Psychiatry<\/strong><\/em>. 2020. DOI: 10.1016\/j.biopsych.2019.07.014<\/p>\n

Satterstrom FK, Kosmicki JA, Wang J, … Yuen RKC<\/strong>, … Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism<\/a><\/u>. Cell<\/strong><\/em>. 2020. DOI: 10.1016\/j.cell.2019.12.036<\/p>\n

Mojarad BA, Yin Y, Backstrom I, Yuen RKC,<\/strong> Soman T. Family-Based Genome Analysis Identifies Clinically Relevant de novo Variants in Pediatric Dystonia (4446)<\/a><\/u>. Neurology<\/strong><\/em>. 2020.<\/p>\n

Schaaf CP, Betancur C, Yuen RKC<\/strong>, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, Howe J, Marshall CR, Michaud JL, Rennie O, Szatmari P, Chung WK, Bolton PF, Cook EH, Scherer SW, Vorstman JAS. A<\/a> framework for an evidence-based gene list relevant to autism spectrum disorder<\/a>.<\/u> Nature Reviews Genetics.<\/strong><\/em> 2020. DOI: 10.1038\/s41576-020-0231-2<\/p>\n

Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, Luca S, Buera J, Arje D, Reuter MS, Thiruvahindrapuram B, Trost B, Sung WWL, Yuen RKC<\/strong>, Chitayat D, Mendoza-Londono R, Stavropoulos DJ, Scherer SW, Marshall CR, Cohn RD, Cohen E, Orkin J, Meyn MS, Hayeems RZ. Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity<\/u><\/a>. JAMA Network Open<\/strong><\/em>. 2020. DOI: 10.1001\/jamanetworkopen.2020.18109<\/p>\n

Trost B*, Engchuan W*, Nguyen CM*<\/strong>, Thiruvahindrapuram B*, Dolzhenko E, Backstrom<\/strong> I<\/b>, Mirceta M, Mojarad BA, Yin Y, Dov A, Chandrakumar I<\/strong>, Prasolava T, Shum N, Hamdan O, Pellecchia G, Howe JL, Whitney J, Klee EW, Baheti S, Amaral DG, Anagnostou E, Elsabbagh M, Fernandez BA, Hoang N, Lewis MES, Liu X, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Glazer D, Hartley D, Stewart AK, Eberle MA, Sato N, Pearson CE, Scherer SW, Yuen RKC<\/strong>. Genome-wide detection of tandem DNA repeats that are expanded in autism<\/a><\/u>. Nature.<\/strong><\/em> 2020. DOI: 10.1038\/s41586-020-2579-z<\/p>\n

Qaiser F<\/strong>, Yuen RKC<\/strong>, Andrade DM. Genetics of Epileptic Networks: from Focal to Generalized Genetic Epilepsies<\/a><\/u>. Current Neurology and Neuroscience Reports<\/strong><\/em>. 2020. DOI: 10.1007\/s11910-020-01059-x<\/p>\n

Dolzhenko E, Bennett MF, Richmond PA, Trost B, Chen S, van Vugt JJFA, Nguyen C<\/strong>, Narzisi G, Gainullin VG, Gross AM, Lajoie BR, Taft RJ, Wasserman WW, Scherer SW, Veldink JH, Bentley DR, Yuen RKC<\/strong>, Bahlo M, Eberle MA. Ex<\/a>pansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data<\/a><\/u>. Genome Biology<\/strong><\/em>. 2020. DOI: 10.1186\/s13059-020-02017-z<\/p>\n<\/div>

2019<\/span><\/b><\/h2>\n
\n

D’Abate L, Walker S, Yuen RKC<\/b>, Tammimies K, Buchanan JA, Davies RW, Thiruvahindrapuram B, Wei J, Brian J, Bryson SE, Dobkins K, Howe J, Landa R, Leef J, Messinger D, Ozonoff S, Smith IM, Stone WL, Warren ZE, Young G, Zwaigenbaum L, Scherer SW. Predictive impact of rare geneomic copy number variations in siblings of individuals with autism spectrum disorders<\/u><\/a>. Nature Communications<\/b><\/i>. 2019. DOI: 10.1038\/s41467-019-13380-2<\/p>\n

Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA<\/b>, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC<\/b>, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW. A large data resourse of genomic copy number variation across neurodevelopmental disorders<\/u><\/a>. npj Genomic Medicine<\/b><\/i>. 2019. DOI: 10.1038\/s41525-019-0098-3<\/p>\n

Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, De Crescenzo AH, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, B\u00fcttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Qu\u00e9lin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC<\/b>, Ziegler A, Sticht H, Pride MC, Orosco L, Mart\u00ednez-Cerde\u00f1o V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R. Pathogenic WDFY3<\/i> variants cause neurodevelopmental disorders and opposing effects on brain size<\/u><\/a>. Brain<\/b><\/i>. 2019. DOI: 10.1093\/brain\/awz198<\/p>\n

Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Becanovic K, Dr\u00f6gem\u00f6ller BI, Semaka A, Nguyen CM<\/b>, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC<\/b>, Hayden MR. Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease<\/u><\/a>. American Journal of Human Genetics<\/b><\/i>. 2019. DOI: 10.1016\/j.ajhg.2019.04.007<\/p>\n

Chan AJS, Cytrynbaum C, Hoang N, Ambrozewicz PM, Weksberg R, Drmic I, Ritzema A, Schachar R, Walker S, Uddin M, Zarrei M, Yuen RKC<\/b>, Scherer SW. Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A<\/i> variants<\/u><\/a>. npj Genomic Medicine<\/b><\/i>. 2019. DOI: 10.1038\/s41525-019-0083-x<\/p>\n

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Dr\u00f6gem\u00f6ller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen CM<\/strong>, Rajan-Babu I, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC<\/strong>, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen X, Waterham HR, Usdin K, van Karnebeek CDM. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS<\/a><\/u>. New England Journal of Medicine. <\/strong><\/em>2019. DOI: 10.1056\/NEJMoa1806627<\/p>\n<\/div>\n

<\/div>\n

Deneault E, Faheem M, White SH, Rodrigues DC, Sun S, Wei W, Piekna A, Thompson T, Howe JL, Chalil L, Kwan V, Walker S, Pasceri P, Roth FP, Yuen RKC<\/strong>, Singh KK, Ellis J, and Scherer SW. CNTN5-\/+or EHMT2-\/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks<\/a><\/u>. eLife<\/strong><\/em>. <\/em>2019. DOI: 10.7554\/eLife.40092<\/p>\n<\/div>

2018<\/span><\/b><\/h2>\n

Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC<\/b>, Singh KK, Ellis J, Scherer SW. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons<\/u><\/a>. Stem Cell Reports<\/b><\/i>. 2018. DOI: 10.1016\/j.stemcr.2018.10.003<\/p>\n

Woodbury-Smith M, Paterson AD, O\u2019Connor I, Zarrei M, Yuen RKC<\/strong>, Howe J, Thompson A, Parlier M, Fernandez B, Piven J, Scherer SW, Vieland V, Szatmari P. (2018) A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees<\/a><\/u>. Journal of Neurodevelopmental Disorders<\/em><\/strong>. 2018. DOI: 10.1186\/s11689-018-9238-9.<\/p>\n

Richter M*, Murtaza N*, Scharrenberg R, White SH, Johanns O, Walker S, Yuen RKC<\/strong>, Schwanke B, Bedurftig B, Henis M, Scharf S, Kraus V, Dork 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 KK, Calderon de Anda F. Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling<\/a><\/u>. Molecular Psychiatry<\/em><\/strong>. 2018. DOI: 10.1038\/s41380-018-0025-5.<\/p>\n

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC<\/strong>, Trost B, Paton TA, Pereira SL, Herbrick J, Wintle RF, Merico D, Howe J, MacDonald J, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug L, Bell S, Kellam B, Mahtani M, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego M, Scherer SW. The Personal Genome Project Canada \u2013 whole genome analyses of the inaugural 56 participants<\/a><\/u>. Canadian Medical Association Journal<\/em><\/strong>. 2018. DOI: 10.1503\/cmaj.171151.<\/p>\n

Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald JR, Sung WWL, Pereira S, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC<\/strong>, Marshall CR, Merico D*, Scherer SW*. A comprehensive workflow for copy number variation identification from whole-genome sequencing data<\/a><\/u>. American Journal of Human Genetics<\/em><\/strong>. 2018. DOI: 10.1016\/j.ajhg.2017.12.007.<\/p>\n<\/div>

2017<\/span><\/b><\/h2>\n

Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC<\/strong>, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C. Germline and somatic mutations in STXBP1<\/i> with diverse neurodevelopmental phenotypes<\/a><\/u>. Genetics<\/em><\/strong>. 2017. DOI: 10.1212\/NXG.0000000000000199.<\/p>\n

Woodbury-Smith M, Deneault E, Zarrei M, Yuen RKC<\/strong>, Walker S, Pellecchia G, Howe J, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW. Mutations in RAB39B<\/i> in individuals with intellectual disability, autism spectrum disorder and macrocephaly<\/a><\/u>. Molecular Autism<\/em><\/strong>. 2017. DOI: 10.1186\/s13229-017-0175-3.<\/p>\n

Woodbury-Smith M, Nicolson R, Zarrei M, Yuen RKC<\/strong>, Walker S, Howe J, Uddin M, Hoang N, Buchanan JA, Chrysler C, Thompson A, Szatmari P, Scherer SW. Variable phenotype expression in a family segregating microdeletions of the NRXN1<\/i> and MBD5<\/i> autism spectrum disorder susceptibility genes<\/a><\/u>. NPJ Genomic Medicine<\/em><\/strong>. 2017. DOI: 10.1038\/s41525-017-0020-9.<\/p>\n

Yuen RKC<\/strong>, Merico D, Bookman M, L Howe J, 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, Scherer SW. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder<\/a><\/u>. Nature Neuroscience<\/em><\/strong>. 2017. DOI: 10.1038\/nn.4524.<\/p>\n

Lok S, Paton TA, Wang Z, Kaur G, Walker S, Yuen RKC<\/strong>, Sung WW, Whitney J, Buchanan JA, Trost B, Singh N, Apresto B, Chen N, Coole M, Dawson TJ, Ho K, Hu Z, Pullenayegum S, Samler K, Shipstone A, Tsoi F, Wang T, Pereira SL, Rostami P, Ryan CA, Tong AH, Ng K, Sundaravadanam Y, Simpson JT, Lim BK, Engstrom MD, Dutton CJ, Kerr KC, Franke M, Rapley W, Wintle RF, Scherer SW. De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis<\/em>)<\/a><\/u>. G3: Genes, Genomes, Genetics<\/em><\/strong>. 2017. DOI: 10.1534\/g3.116.038208.<\/p>\n

Mercati O*, Huguet G*, Danckaert A, Andr\u00e9-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M1, Bourgeois J-P, Gazzellone MJ, Yuen RKC<\/strong>, Walker S, Del\u00e9pine M, Boland A, R\u00e9gnault 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, Clo\u00ebz-Tayarani I, Bourgeron T. CNTN6<\/i> mutations are risk factors for auditory sensory perception in autism spectrum disorders<\/a><\/u>. Molecular Psychiatry<\/em><\/strong>. 2017. DOI: 10.1038\/mp.2016.61.<\/p>\n<\/div>

2016<\/span><\/b><\/h2>\n

Kwan V, Meka DP, White SH, Hung CL, Holzapfel NT, Walker S, Murtaza N, Unda BK, Schwanke B, Yuen RKC<\/b>, Habing K, Milsom C, Hope KJ, Truant R, Scherer SW, Calderon de Anda F, Singh KK. DIXDC1<\/i> <\/u>Phosphorylation<\/u> and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants<\/u><\/a>. Cell Reports<\/b><\/i>. 2016. DOI: 10.1016\/j.celrep.2016.10.047.<\/p>\n

Yuen RKC*<\/strong>, 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 A, D\u2019Abate 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, Scherer SW. Genome-wide characteristics of de novo<\/em> mutations in autism<\/a><\/u>. NPJ Genomic Medicine<\/em><\/strong>. 2016. DOI: 10.1038\/npjgenmed.2016.27.<\/p>\n

Stavropoulos DJ, Merico D, Jobling R, Meyn MS, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC<\/strong>, Szego M, Hayeems R, Zlotnik-Shaul R, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Badilla Porras R, Carter MT, Chad L, Chaudhry A, Chitayat D, Jougheh Doust S, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, 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, Scherer SW*, Cohn RD*, Marshall CR*. Whole genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine<\/a><\/u>. NPJ Genomic Medicine<\/em><\/strong>. 2016. DOI: 10.1038\/npjgenmed.2015.12.<\/p>\n

Uddin M, Pellecchia G, Thiruvahindrapuram B, D\u2019Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RKC<\/strong>, Devriendt K, Mathonnet G, Lemyre E, Nizard E, Shago M, Joseph-George MA, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Indexing effects of copy number variation on genes involved in developmental delay<\/a><\/u>. Scientific Reports<\/em><\/strong>. 2016. DOI: 10.1038\/srep28663.<\/p>\n<\/div>

2015<\/span><\/b><\/h2>\n

Merico D*, Roifman M*, Braunschweig U, Yuen RKC<\/strong>, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick J, Blencowe BJ, Scherer SW, and Roifman CM. Compound heterozygous mutations in the noncoding RNU4ATAC<\/i> cause Roifman Syndrome by disrupting minor intron splicing<\/a><\/u>. Nature Communications<\/em><\/strong>. 2015. DOI: 10.1038\/ncomms9718.<\/p>\n

Tammimies K, Marshall CR, Walker S, PhD; Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RKC<\/strong>, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone M, Lau L, Sung W, Whitten K, Vardy C, Crosbie V, Tsang B, D\u2019Abate L, Tong W, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with Autism Spectrum Disorder<\/a><\/u>. Journal of the American Medical Association<\/em><\/strong>. 2015. DOI: 10.1001\/jama.2015.10078.<\/p>\n

Yuen RKC<\/strong>, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone M, D\u2019Abate L, Deneault E, Howe JL, Liu RSC, Thompson A, Zarrei M, Uddin M, Marshall CR, Ring RH, Zwaigenbaum L, Ray P, Weksberg R, Carter M, Fernandez BA, Roberts W, Szatmari P, Scherer SW. Whole-genome sequencing of quartet families with Autism Spectrum Disorder<\/a><\/u>. Nature Medicine<\/em><\/strong>. 2015. DOI: 10.1038\/nm.3792.<\/p>\n

Hu Y, Blair JD, Yuen RKC<\/b>, Robinson WP, von Dadelszen P. Genome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity<\/u><\/a>. Molecular Human Reproduction<\/b><\/i>. 2015. DOI: 10.1093\/molehr\/gav007.<\/p>\n

Xiong HY*, Alipanahi B*, Lee LJ*, Bretschneider H, Merico D, Yuen RKC<\/strong>, Hua Y, Gueroussov S, Najafabadi HS, Bretschneider H, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ. The human splicing code reveals new insights into the genetic determinants of disease<\/a><\/u>. Science<\/em><\/strong>. 2015. DOI: 10.1126\/science.1254806.<\/p>\n

Woodbury-Smith M, Paterson AD, Thiruvahindrapuram B, Lionel AC, Marshall CR, Merico D, Fernandez B, Duku E, Sutcliffe JS, O\u2019Conner I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, Yuen RKC<\/strong>, Uddin M, Howe JL, Parlier M, Whitten K, Szatmari P, Vieland V, Piven J, Scherer SW. Using Extended Pedigrees to Identify Novel Autism Spectrum Disorder (ASD) Candidate Genes<\/a><\/u>. Human Genetics<\/em><\/strong>. 2015. DOI: 10.1007\/s00439-014-1513-6.<\/p>\n<\/div>

2014<\/span><\/b><\/h2>\n

Hu Y, Blair JD, Yuen RKC<\/strong>, Robinson WP, von Dadelszen P. Genome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity<\/a><\/u>. Molecular Human Reproduction<\/em><\/strong>. 2014. DOI: 10.1093\/molehr\/gav007.<\/p>\n

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu S, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NJ, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Crooks L, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza L, Gonzalez PJ, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei J, Lehtim\u00e4ki T, Lin CF, Ma’ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnstr\u00f6m K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-R\u00fcther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Wang L, Weiss LA, Willsey AJ, Yu TW, Yuen RKC<\/strong>, the DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, the Autism Sequencing Consortium, Cook EH, Freitag CM, Gill M, Hultman CH, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barrett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. Synaptic, transcriptional, and chromatin genes disrupted in autism<\/a><\/u>. Nature<\/em><\/strong>. 2014. DOI: 10.1038\/nature13772.<\/p>\n

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 RKC<\/strong>, Scherer SW. Brain-expressed exons under purifying selection are enriched for de novo<\/em> mutations in Autism Spectrum Disorder<\/a><\/u>. Nature Genetics<\/em><\/strong>. 2014. DOI: 10.1038\/ng.2980.<\/p>\n

Lionel AC*, Tammimies K*, Vaags AK*, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RKC<\/strong>, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Disruption of the ASTN2\/TRIM32<\/i> locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes<\/a><\/u>. Human Molecular Genetics<\/em><\/strong>. 2014. DOI: 10.1093\/hmg\/ddt669.<\/p>\n

Yuen RKC<\/strong>, Merkoulovitch A, MacDonald JR, Vlasschaert M, Lo K, Grober E, Marshall CR, Jarvi KA, Kolomietz E, Scherer SW. Development of a high resolution Y-chromosome microarray for improved male infertility diagnosis<\/a><\/u>. Fertility and Sterility<\/em><\/strong>. 2014. DOI: 10.1016\/j.fertnstert.2013.12.027.<\/p>\n

Pang AW, MacDonald JR, Yuen RKC<\/strong>, Hayes VM, Scherer SW. Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum<\/a><\/u>. G3-Genes Genomes Genetics<\/em><\/strong>. 2014. DOI: 10.1534\/g3.113.008797.<\/p>\n

MacDonald JR, Ziman R, Yuen RKC<\/strong>, Feuk L*, Scherer SW*. The Database of Genomic Variants; a curated collection of structural variation in the human genome<\/a><\/u>. Nucleic Acids Research<\/em><\/strong>. 2014. DOI: 10.1093\/nar\/gkt958.<\/p>\n<\/div>

2013<\/span><\/b><\/h2>\n

Blair JD, Yuen RKC<\/strong>, Lim B, McFadden DE, von Dadelszen P, Robinson WP. Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset preeclampsia<\/a><\/u>. Molecular Human Reproduction<\/em><\/strong>. 2013. DOI: 10.1093\/molehr\/gat044.<\/p>\n

Jiang YH*, Yuen RKC<\/strong>*, 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, Scherer SW. Detection of clinically relevant genetic variants in Autism Spectrum Disorder using whole genome sequencing<\/a><\/u>. American Journal of Human Genetics<\/em><\/strong>. 2013. DOI: 10.1016\/j.ajhg.2013.06.012.<\/p>\n

Yuen RKC<\/strong>*, Chen B*, Blair J, Robinson WP, Nelson DM. Hypoxia alters the epigenetic profile in cultured human placental trophoblasts<\/a><\/u>. Epigenetics<\/em><\/strong>. 2013. DOI: 10.4161\/epi.23400.<\/p>\n<\/div>

2012<\/span><\/b><\/h2>\n

Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW, The Autism Sequencing Consortium<\/strong>. The Autism Sequencing Consortium: Large-scale, high-throughput sequencing in Autism Spectrum Disorder<\/a><\/u>. Neuron<\/em><\/strong>. 2012. DOI: 10.1016\/j.neuron.2012.12.008.<\/p>\n

Pe\u00f1aherrera MS, Jiang R, Avila L, Yuen RKC<\/strong>, Brown CJ, Robinson WP. Patterns of placental development evaluated by X-chromosome inactivation profiling provide a basis to evaluate the origin of epigenetic variation<\/a><\/u>. Human Reproduction<\/em><\/strong>. 2012. DOI: 10.1093\/humrep\/des072.<\/p>\n<\/div>

2011<\/span><\/b><\/h2>\n

Novakovic B*, Yuen RKC<\/strong>*, Gordon L, Pe\u00f1aherrera MS, Sharkey A, Moffett A, Craig JM, Robinson WP, Saffery R. Evidence for widespread coordinated changes in promoter DNA methylation profile in human placenta in response to increasing gestational age and environmental\/stochastic factors<\/a><\/u>. BMC Genomics<\/em><\/strong>. 2011. DOI: 10.1186\/1471-2164-12-529.<\/p>\n

Yuen RKC<\/strong>, Manokhina I, Robinson WP. Are we ready for DNA methylation-based prenatal testing?<\/a><\/u> Epigenomics<\/em><\/strong>. 2011. DOI: 10.2217\/epi.11.62<\/span>.<\/p>\n

Yuen RKC<\/strong>, Jiang R, Pe\u00f1aherrera MS, McFadden DE, Robinson WP. Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies<\/a><\/u>. Epigenetics & Chromatin<\/em><\/strong>. 2011. DOI: 10.1186\/1756-8935-4-10.<\/p>\n

Yuen RKC<\/strong>, Neumann SMA, Fok AK, Pe\u00f1aherrera MS, McFadden DE, Robinson WP, Kobor MS. Extensive epigenetic reprogramming in human somatic tissues between fetus and adult<\/a><\/u>. Epigenetics & Chromatin<\/em><\/strong>. 2011. DOI: 10.1186\/1756-8935-4-7<\/span>.<\/p>\n

Yuen RKC<\/strong> and Robinson WP. Review: A high capacity of the human placenta for genetic and epigenetic variation: implications for assessing pregnancy outcome<\/a><\/u>. Placenta<\/em><\/strong>. 2011. DOI: 10.1016\/j.placenta.2011.01.003.<\/p>\n

Abad C, Antczak DF, Carvalho J, Chamley LW, Chen Q, Daher S, Damiano AE, Dantzer V, D\u00edaz P, Dunk CE, Daly E, Escudero C, Falc\u00f3n B, Guillomot M, Han YW, Harris LK, Huidobro-Toro JP, Illsley N, Jammes H, Jansson T, Johnson GA, Kfoury JR Jr, Mar\u00edn R, Murthi P, Novakovic B, Myatt L, Petroff MG, Pereira FT, Pfarrer C, Redman CW, Rice G, Saffery R, Tolosa JM, Vaillancourt C, Wareing M, Yuen RKC<\/strong>, Lash GE. IFPA Meeting 2010 Workshop Report I: Immunology; Ion transport; Epigenetics; Vascular reactivity; Epitheliochorial placentation; Proteomics<\/a><\/u>. Placenta<\/em><\/strong>. 2011. DOI: 10.1016\/j.placenta.2010.12.019.<\/p>\n

Bourque DK, Pe\u00f1aherrera MS, Yuen RKC<\/strong>, McFadden DE, Robinson WP. The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders<\/a><\/u>. Clinical Genetics<\/em><\/strong>. 2011. DOI: 10.1111\/j.1399-0004.2010.01443.x.<\/p>\n<\/div>

2010<\/span><\/b><\/h2>\n

Avila L, Yuen RKC<\/strong>, Diego-Alvarez D, Pe\u00f1aherrera MS, Robinson WP. Evaluating DNA methylation and gene expression variability in the human term placenta<\/a><\/u>. Placenta<\/em><\/strong>. 2010. DOI: 10.1016\/j.placenta.2010.09.011.<\/p>\n

Yuen RKC<\/strong>, Pe\u00f1aherrera MS, von Dadelszen P, McFadden DE, Robinson WP. DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia<\/a><\/u>. European Journal of Human Genetics<\/em><\/strong>. 2010. DOI: 10.1038\/ejhg.2010.63.<\/p>\n<\/div>

2009<\/span><\/b><\/h2>\n

Yuen RKC<\/strong>, Avila L, Pe\u00f1aherrera MS, von Dadelszen P, Lefebvre L, Kobor MS, Robinson WP. Human placental-specific epipolymorphism and its association with adverse pregnancy outcomes<\/a><\/u>. PLoS One<\/em><\/strong>. 2009. DOI: 10.1371\/journal.pone.0007389.<\/p>\n<\/div>

2007<\/span><\/b><\/h2>\n

Chiu RWK, Chim SSC, Wong IHN, Wong CSC, Lee WS, To KF, Tong JHM, Yuen RKC<\/strong>, Shum ASW, Chan JKC, Chan LYS, Yuen JWF, Tong YK, Weier JF, Ferlatte C, Leung TN, Lau TK, Lo KW, Dennis Lo YM. Hypermethylation of RASSF1A<\/i> in human and rhesus placentas<\/a><\/u>. American Journal of Pathology<\/em><\/strong>. 2007. DOI: 10.2353\/ajpath.2007.060641.<\/p>\n

*Equal Contribution<\/p>\n<\/div>

<\/div><\/div><\/div><\/div><\/div>

Book Chapters<\/b><\/h2>\n

Khan M<\/strong>, Rutter M, Thapar A, Yuen RKC<\/strong>. 2025. Genetics of Autism.’Handbook of Autism and Pervasive Developmental Disorders, Volume 1: Diagnosis, Development, and Brain Mechanisms’. John Wiley & Sons<\/em>. Chapter 16.<\/p>\n

Mojarad BA, Qaiser F, Yuen RKC<\/strong>. 2023. Genetics and Epigenetics of ASD. ‘Neurodevelopmental Pediatrics’. Springer, Cham.<\/i> In press.<\/p>\n

Yuen RKC, <\/strong>Szatmari P, Vorstman J. 2019. The genetics of autism spectrum disorders. ‘Autism and Pervasive Developmental Disorders’. Cambridge: Cambridge University Press<\/i>. In press.<\/p>\n

Yuen RKC<\/strong> and Scherer SW. 2014. Whole genome sequencing in autism: clinical translation. \u2018Frontiers in Autism Research, Diagnosis, and Treatment\u2019. World Scientific<\/em>. Chapter 4:69-97.<\/p>\n<\/div>

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