Found: 42

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  • A Distributed Whole Genome Sequencing Benchmark Study.

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.612515
    By:
    • Corbett, Richard D.;
    • Eveleigh, Robert;
    • Whitney, Joe;
    • Barai, Namrata;
    • Bourgey, Mathieu;
    • Chuah, Eric;
    • Johnson, Joanne;
    • Moore, Richard A.;
    • Moradin, Neda;
    • Mungall, Karen L.;
    • Pereira, Sergio;
    • Reuter, Miriam S.;
    • Thiruvahindrapuram, Bhooma;
    • Wintle, Richard F.;
    • Ragoussis, Jiannis;
    • Strug, Lisa J.;
    • Herbrick, Jo-Anne;
    • Aziz, Naveed;
    • Jones, Steven J. M.;
    • Lathrop, Mark
    Publication type:
    Article

  • Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34112-z
    By:
    • Chan, Ada J. S.;
    • Engchuan, Worrawat;
    • Reuter, Miriam S.;
    • Wang, Zhuozhi;
    • Thiruvahindrapuram, Bhooma;
    • Trost, Brett;
    • Nalpathamkalam, Thomas;
    • Negrijn, Carol;
    • Lamoureux, Sylvia;
    • Pellecchia, Giovanna;
    • Patel, Rohan V.;
    • Sung, Wilson W. L.;
    • MacDonald, Jeffrey R.;
    • Howe, Jennifer L.;
    • Vorstman, Jacob;
    • Sondheimer, Neal;
    • Takahashi, Nicole;
    • Miles, Judith H.;
    • Anagnostou, Evdokia;
    • Tammimies, Kristiina
    Publication type:
    Article

  • Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2060, doi. 10.3390/ijms22042060
    By:
    • Begum, Ghausia;
    • Albanna, Ammar;
    • Bankapur, Asma;
    • Nassir, Nasna;
    • Tambi, Richa;
    • Berdiev, Bakhrom K.;
    • Akter, Hosneara;
    • Karuvantevida, Noushad;
    • Kellam, Barbara;
    • Alhashmi, Deena;
    • Sung, Wilson W. L.;
    • Thiruvahindrapuram, Bhooma;
    • Alsheikh-Ali, Alawi;
    • Scherer, Stephen W.;
    • Uddin, Mohammed;
    • Quinn, John P.
    Publication type:
    Article

  • Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations.

    Published in:
    BMC Genomics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12864-019-6226-8
    By:
    • Deng, Lian;
    • Lou, Haiyi;
    • Zhang, Xiaoxi;
    • Thiruvahindrapuram, Bhooma;
    • Lu, Dongsheng;
    • Marshall, Christian R.;
    • Liu, Chang;
    • Xie, Bo;
    • Xu, Wanxing;
    • Wong, Lai-Ping;
    • Yew, Chee-Wei;
    • Farhang, Aghakhanian;
    • Ong, Rick Twee-Hee;
    • Hoque, Mohammad Zahirul;
    • Thuhairah, Abdul Rahman;
    • Jong, Bhak;
    • Phipps, Maude E.;
    • Scherer, Stephen W.;
    • Teo, Yik-Ying;
    • Kumar, Subbiah Vijay
    Publication type:
    Article

  • SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

    Published in:
    Human Genetics, 2023, v. 142, n. 2, p. 201, doi. 10.1007/s00439-022-02494-1
    By:
    • Ding, Qiliang;
    • Somerville, Cherith;
    • Manshaei, Roozbeh;
    • Trost, Brett;
    • Reuter, Miriam S.;
    • Kalbfleisch, Kelsey;
    • Stanley, Kaitlin;
    • Okello, John B. A.;
    • Hosseini, S. Mohsen;
    • Liston, Eriskay;
    • Curtis, Meredith;
    • Zarrei, Mehdi;
    • Higginbotham, Edward J.;
    • Chan, Ada J. S.;
    • Engchuan, Worrawat;
    • Thiruvahindrapuram, Bhooma;
    • Scherer, Stephen W.;
    • Kim, Raymond H.;
    • Jobling, Rebekah K.
    Publication type:
    Article

  • Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.

    Published in:
    2018
    By:
    • Stamouli, Sofia;
    • Anderlid, Britt-Marie;
    • Willfors, Charlotte;
    • Thiruvahindrapuram, Bhooma;
    • Wei, John;
    • Berggren, Steve;
    • Nordgren, Ann;
    • Scherer, Stephen W.;
    • Lichtenstein, Paul;
    • Tammimies, Kristiina;
    • Bölte, Sven;
    • Bölte, Sven
    Publication type:
    journal article

  • Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 5, p. 268, doi. 10.1002/ajmg.b.32785
    By:
    • Woodbury‐Smith, Marc;
    • Zarrei, Mehdi;
    • Wei, John;
    • Thiruvahindrapuram, Bhooma;
    • O'Connor, Irene;
    • Paterson, Andrew D.;
    • Yuen, Ryan K. C.;
    • Dastan, Jila;
    • Stavropoulos, Dimitri J.;
    • Howe, Jennifer L.;
    • Thompson, Ann;
    • Parlier, Morgan;
    • Fernandez, Bridget;
    • Piven, Joseph;
    • Anagnostou, Evdokia;
    • Scherer, Stephen W.;
    • Vieland, Veronica J.;
    • Szatmari, Peter
    Publication type:
    Article

  • The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 3, p. 377, doi. 10.1002/ajmg.b.32416
    By:
    • Richard, Anne Claire;
    • Rovelet‐Lecrux, Anne;
    • Delaby, Elsa;
    • Charbonnier, Camille;
    • Thiruvahindrapuram, Bhooma;
    • Hatchwell, Eli;
    • Eis, Peggy S.;
    • Afenjar, Alexandra;
    • Gilbert Dussardier, Brigitte;
    • Scherer, Stephen W.;
    • Betancur, Catalina;
    • Campion, Dominique
    Publication type:
    Article

  • Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 4, p. 303, doi. 10.1002/ajmg.b.32232
    By:
    • Noor, Abdul;
    • Lionel, Anath C.;
    • Cohen‐Woods, Sarah;
    • Moghimi, Narges;
    • Rucker, James;
    • Fennell, Alanna;
    • Thiruvahindrapuram, Bhooma;
    • Kaufman, Liana;
    • Degagne, Bryan;
    • Wei, John;
    • Parikh, Sagar V.;
    • Muglia, Pierandrea;
    • Forte, Julia;
    • Scherer, Stephen W.;
    • Kennedy, James L.;
    • Xu, Wei;
    • McGuffin, Peter;
    • Farmer, Anne;
    • Strauss, John;
    • Vincent, John B.
    Publication type:
    Article

  • Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.

    Published in:
    Nature Biotechnology, 2011, v. 29, n. 6, p. 512, doi. 10.1038/nbt.1852
    By:
    • Pinto, Dalila;
    • Darvishi, Katayoon;
    • Xinghua Shi;
    • Rajan, Diana;
    • Rigler, Diane;
    • Fitzgerald, Tom;
    • Lionel, Anath C.;
    • Thiruvahindrapuram, Bhooma;
    • MacDonald, Jeffrey R.;
    • Mills, Ryan;
    • Prasad, Aparna;
    • Noonan, Kristin;
    • Gribble, Susan;
    • Prigmore, Elena;
    • Donahoe, Patricia K.;
    • Smith, Richard S.;
    • Ji Hyeon Park;
    • Hurles, Matthew E.;
    • Carter, Nigel P.;
    • Lee, Charles
    Publication type:
    Article

  • Whole-genome sequencing of quartet families with autism spectrum disorder.

    Published in:
    Nature Medicine, 2015, v. 21, n. 2, p. 185, doi. 10.1038/nm.3792
    By:
    • 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;
    • Thompson, Ann;
    • Zarrei, Mehdi;
    • Uddin, Mohammed;
    • Marshall, Christian R;
    • Ring, Robert H
    Publication type:
    Article

  • Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

    Published in:
    Scientific Reports, 2016, p. 28663, doi. 10.1038/srep28663
    By:
    • Uddin, Mohammed;
    • Pellecchia, Giovanna;
    • Thiruvahindrapuram, Bhooma;
    • D'Abate, Lia;
    • Merico, Daniele;
    • Chan, Ada;
    • Zarrei, Mehdi;
    • Tammimies, Kristiina;
    • Walker, Susan;
    • Gazzellone, Matthew J.;
    • Nalpathamkalam, Thomas;
    • Yuen, Ryan K. C.;
    • Devriendt, Koenraad;
    • Mathonnet, Géraldine;
    • Lemyre, Emmanuelle;
    • Nizard, Sonia;
    • Shago, Mary;
    • Joseph-George, Ann M.;
    • Noor, Abdul;
    • Carter, Melissa T.
    Publication type:
    Article

  • Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01228-w
    By:
    • Abdi, Mona;
    • Aliyev, Elbay;
    • Trost, Brett;
    • Kohailan, Muhammad;
    • Aamer, Waleed;
    • Syed, Najeeb;
    • Shaath, Rulan;
    • Gandhi, Geethanjali Devadoss;
    • Engchuan, Worrawat;
    • Howe, Jennifer;
    • Thiruvahindrapuram, Bhooma;
    • Geng, Melissa;
    • Whitney, Joe;
    • Syed, Amira;
    • Lakshmi, Jyothi;
    • Hussein, Sura;
    • Albashir, Najwa;
    • Hussein, Amal;
    • Poggiolini, Ilaria;
    • Elhag, Saba F.
    Publication type:
    Article

  • Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia.

    Published in:
    PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100371
    By:
    • Mokhtar, Siti Shuhada;
    • Marshall, Christian R.;
    • Phipps, Maude E.;
    • Thiruvahindrapuram, Bhooma;
    • Lionel, Anath C.;
    • Scherer, Stephen W.;
    • Peng, Hoh Boon
    Publication type:
    Article

  • Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.

    Published in:
    BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-022-01425-3
    By:
    • Faheem, Muhammad;
    • Deneault, Eric;
    • Alexandrova, Roumiana;
    • Rodrigues, Deivid C.;
    • Pellecchia, Giovanna;
    • Shum, Carole;
    • Zarrei, Mehdi;
    • Piekna, Alina;
    • Wei, Wei;
    • Howe, Jennifer L.;
    • Thiruvahindrapuram, Bhooma;
    • Lamoureux, Sylvia;
    • Ross, P. Joel;
    • Bradley, Clarrisa A.;
    • Ellis, James;
    • Scherer, Stephen W.
    Publication type:
    Article

  • Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00288-y
    By:
    • Lesurf, Robert;
    • Said, Abdelrahman;
    • Akinrinade, Oyediran;
    • Breckpot, Jeroen;
    • Delfosse, Kathleen;
    • Liu, Ting;
    • Yao, Roderick;
    • Persad, Gabrielle;
    • McKenna, Fintan;
    • Noche, Ramil R.;
    • Oliveros, Winona;
    • Mattioli, Kaia;
    • Shah, Shreya;
    • Miron, Anastasia;
    • Yang, Qian;
    • Meng, Guoliang;
    • Yue, Michelle Chan Seng;
    • Sung, Wilson W. L.;
    • Thiruvahindrapuram, Bhooma;
    • Lougheed, Jane
    Publication type:
    Article

  • Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00263-z
    By:
    • Merico, Daniele;
    • Pasternak, Yehonatan;
    • Zarrei, Mehdi;
    • Higginbotham, Edward J.;
    • Thiruvahindrapuram, Bhooma;
    • Scott, Ori;
    • Willett-Pachul, Jessica;
    • Grunebaum, Eyal;
    • Upton, Julia;
    • Atkinson, Adelle;
    • Kim, Vy H. D.;
    • Aliyev, Elbay;
    • Fakhro, Khalid;
    • Scherer, Stephen W.;
    • Roifman, Chaim M.
    Publication type:
    Article

  • Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

    Published in:
    NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0031-6
    By:
    • Dale, Breanne;
    • Modi, Bonnie MacKinnon;
    • Jilderda, Sanne;
    • McConnell, Beth;
    • Hoang, Ny;
    • Swaroop, Pooja;
    • Falcon, Jhoan;
    • Thiruvahindrapuram, Bhooma;
    • Walker, Susan;
    • Scherer, Stephen W.;
    • Stavropoulos, D. James;
    • Drmic, Irene E.;
    • Carter, Melissa T.
    Publication type:
    Article

  • A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.

    Published in:
    NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0024-5
    By:
    • Dinur Schejter, Yael;
    • Ovadia, Adi;
    • Alexandrova, Roumiana;
    • Thiruvahindrapuram, Bhooma;
    • Pereira, Sergio L.;
    • Manson, David E.;
    • Vincent, Ajoy;
    • Merico, Daniele;
    • Roifman, Chaim M.
    Publication type:
    Article

  • Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers.

    Published in:
    G3: Genes | Genomes | Genetics, 2019, v. 9, n. 2, p. 463, doi. 10.1534/g3.118.200516
    By:
    • Boscarino, Cathy;
    • Nalpathamkalam, Thomas;
    • Pellecchia, Giovanna;
    • Weili Li;
    • Thiruvahindrapuram, Bhooma;
    • Merico, Daniele
    Publication type:
    Article

  • Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

    Published in:
    G3: Genes | Genomes | Genetics, 2015, v. 5, n. 11, p. 2453, doi. 10.1534/g3.115.021345
    By:
    • Merico, Daniele;
    • Zarrei, Mehdi;
    • Costain, Gregory;
    • Ogura, Lucas;
    • Alipanahi, Babak;
    • Gazzellone, Matthew J.;
    • Butcher, Nancy J.;
    • Thiruvahindrapuram, Bhooma;
    • Nalpathamkalam, Thomas;
    • Chow, Eva W. C.;
    • Andrade, Danielle M.;
    • Frey, Brendan J.;
    • Marshall, Christian R.;
    • Scherer, Stephen W.;
    • Bassett, Anne S.
    Publication type:
    Article

  • Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.

    Published in:
    Molecular Autism, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2040-2392-5-28
    By:
    • Correia, Catarina T.;
    • Conceição, Inês C.;
    • Oliveira, Bárbara;
    • Coelho, Joana;
    • Sousa, Inês;
    • Sequeira, Ana F.;
    • Almeida, Joana;
    • Café, Cátia;
    • Duque, Frederico;
    • Mouga, Susana;
    • Roberts, Wendy;
    • Kun Gao;
    • Lowe, Jennifer K.;
    • Thiruvahindrapuram, Bhooma;
    • Walker, Susan;
    • Marshall, Christian R.;
    • Pinto, Dalila;
    • Nurnberger, John I.;
    • Scherer, Stephen W.;
    • Geschwind, Daniel H.
    Publication type:
    Article

  • Canadian COVID-19 host genetics cohort replicates known severity associations.

    Published in:
    PLoS Genetics, 2024, v. 20, n. 3, p. 1, doi. 10.1371/journal.pgen.1011192
    By:
    • Garg, Elika;
    • Arguello-Pascualli, Paola;
    • Vishnyakova, Olga;
    • Halevy, Anat R.;
    • Yoo, Samantha;
    • Brooks, Jennifer D.;
    • Bull, Shelley B.;
    • Gagnon, France;
    • Greenwood, Celia M. T.;
    • Hung, Rayjean J.;
    • Lawless, Jerald F.;
    • Lerner-Ellis, Jordan;
    • Dennis, Jessica K.;
    • Abraham, Rohan J. S.;
    • Garant, Jean-Michel;
    • Thiruvahindrapuram, Bhooma;
    • Jones, Steven J. M.;
    • Strug, Lisa J.;
    • Paterson, Andrew D.;
    • Sun, Lei
    Publication type:
    Article

  • A New Sturgeon Herpesvirus from Juvenile Lake Sturgeon Acipenser fulvescens Displaying Epithelial Skin Lesions.

    Published in:
    Pathogens, 2023, v. 12, n. 9, p. 1115, doi. 10.3390/pathogens12091115
    By:
    • Clouthier, Sharon;
    • Tomczyk, Marek;
    • Schroeder, Tamara;
    • Klassen, Cheryl;
    • Dufresne, André;
    • Emmenegger, Eveline;
    • Nalpathamkalam, Thomas;
    • Wang, Zhuozhi;
    • Thiruvahindrapuram, Bhooma
    Publication type:
    Article

  • Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 15, p. 2411, doi. 10.1093/hmg/ddad074
    By:
    • Zarrei, Mehdi;
    • Burton, Christie L;
    • Engchuan, Worrawat;
    • Higginbotham, Edward J;
    • Wei, John;
    • Shaikh, Sabah;
    • Roslin, Nicole M;
    • MacDonald, Jeffrey R;
    • Pellecchia, Giovanna;
    • Nalpathamkalam, Thomas;
    • Lamoureux, Sylvia;
    • Manshaei, Roozbeh;
    • Howe, Jennifer;
    • Trost, Brett;
    • Thiruvahindrapuram, Bhooma;
    • Marshall, Christian R;
    • Yuen, Ryan K C;
    • Wintle, Richard F;
    • Strug, Lisa J;
    • Stavropoulos, Dimitri J
    Publication type:
    Article

  • Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

    Published in:
    Nature Communications, 2015, v. 6, n. 11, p. 8718, doi. 10.1038/ncomms9718
    By:
    • Merico, Daniele;
    • Roifman, Maian;
    • Braunschweig, Ulrich;
    • Yuen, Ryan K. C.;
    • Alexandrova, Roumiana;
    • Bates, Andrea;
    • Reid, Brenda;
    • Nalpathamkalam, Thomas;
    • Wang, Zhuozhi;
    • Thiruvahindrapuram, Bhooma;
    • Gray, Paul;
    • Kakakios, Alyson;
    • Peake, Jane;
    • Hogarth, Stephanie;
    • Manson, David;
    • Buncic, Raymond;
    • Pereira, Sergio L.;
    • Herbrick, Jo-Anne;
    • Blencowe, Benjamin J.;
    • Roifman, Chaim M.
    Publication type:
    Article

  • Clinically relevant copy number variations detected in cerebral palsy.

    Published in:
    Nature Communications, 2015, v. 6, n. 8, p. 7949, doi. 10.1038/ncomms8949
    By:
    • Oskoui, Maryam;
    • Gazzellone, Matthew J.;
    • Thiruvahindrapuram, Bhooma;
    • Zarrei, Mehdi;
    • Andersen, John;
    • Wei, John;
    • Wang, Zhuozhi;
    • Wintle, Richard F.;
    • Marshall, Christian R.;
    • Cohn, Ronald D.;
    • Weksberg, Rosanna;
    • Stavropoulos, Dimitri J.;
    • Fehlings, Darcy;
    • Shevell, Michael I.;
    • Scherer, Stephen W.
    Publication type:
    Article

  • Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant.

    Published in:
    2023
    By:
    • Ying, Shengjie;
    • Heung, Tracy;
    • Thiruvahindrapuram, Bhooma;
    • Engchuan, Worrawat;
    • Yin, Yue;
    • Blagojevic, Christina;
    • Zhang, Zhaolei;
    • Hegele, Robert A.;
    • Yuen, Ryan K. C.;
    • Bassett, Anne S.
    Publication type:
    Correction Notice

  • Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.521
    By:
    • Tavares, Erika;
    • Tang, Chen Yu;
    • Vig, Anjali;
    • Li, Shuning;
    • Billingsley, Gail;
    • Sung, Wilson;
    • Vincent, Ajoy;
    • Thiruvahindrapuram, Bhooma;
    • Héon, Elise
    Publication type:
    Article

  • Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 10, p. 2752, doi. 10.1093/hmg/ddt669
    By:
    • Lionel, Anath C.;
    • Tammimies, Kristiina;
    • Vaags, Andrea K.;
    • Rosenfeld, Jill A.;
    • Ahn, Joo Wook;
    • Merico, Daniele;
    • Noor, Abdul;
    • Runke, Cassandra K.;
    • Pillalamarri, Vamsee K.;
    • Carter, Melissa T.;
    • Gazzellone, Matthew J.;
    • Thiruvahindrapuram, Bhooma;
    • Fagerberg, Christina;
    • Laulund, Lone W.;
    • Pellecchia, Giovanna;
    • Lamoureux, Sylvia;
    • Deshpande, Charu;
    • Clayton-Smith, Jill;
    • White, Ann C.;
    • Leather, Susan
    Publication type:
    Article

  • Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 10, p. 2055, doi. 10.1093/hmg/ddt056
    By:
    • Lionel, Anath C.;
    • Vaags, Andrea K.;
    • Sato, Daisuke;
    • Gazzellone, Matthew J.;
    • Mitchell, Elyse B.;
    • Hong Yang Chen;
    • Costain, Gregory;
    • Walker, Susan;
    • Egger, Gerald;
    • Thiruvahindrapuram, Bhooma;
    • Merico, Daniele;
    • Prasad, Aparna;
    • Anagnostou, Evdokia;
    • Fombonne, Eric;
    • Zwaigenbaum, Lonnie;
    • Roberts, Wendy;
    • Szatmari, Peter;
    • Fernandez, Bridget A.;
    • Georgieva, Lyudmila;
    • Brzustowicz, Linda M.
    Publication type:
    Article

  • Rare Copy Number Variation Discovery and Cross- Disorder Comparisons Identify Risk Genes for ADHD.

    Published in:
    Science Translational Medicine, 2011, v. 3, n. 95, p. 1, doi. 10.1126/scitranslmed.3002464
    By:
    • Lionel, Anath C.;
    • Crosbie, Jennifer;
    • Barbosa, Nicole;
    • Goodale, Tara;
    • Thiruvahindrapuram, Bhooma;
    • Rickaby, Jessica;
    • Gazzellone, Matthew;
    • Carson, Andrew R.;
    • Howe, Jennifer L.;
    • Zhuozhi Wang;
    • John Wei;
    • Stewart, Alexandre F. R.;
    • Roberts, Robert;
    • McPherson, Ruth;
    • Fiebig, Andreas;
    • Franke, Andre;
    • Schreiber, Stefan;
    • Zwaigenbaum, Lonnie;
    • Fernandez, Bridget A.;
    • Roberts, Wendy
    Publication type:
    Article

  • Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy.

    Published in:
    PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0148755
    By:
    • Boon-Peng, Hoh;
    • Mat Jusoh, Julia Ashazila;
    • Marshall, Christian R.;
    • Majid, Fadhlina;
    • Danuri, Norlaila;
    • Basir, Fashieha;
    • Thiruvahindrapuram, Bhooma;
    • Scherer, Stephen W.;
    • Yusoff, Khalid
    Publication type:
    Article

  • Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

    Published in:
    JAMA Network Open, 2020, v. 3, n. 9, p. e2018109, doi. 10.1001/jamanetworkopen.2020.18109
    By:
    • Costain, Gregory;
    • Walker, Susan;
    • Marano, Maria;
    • Veenma, Danielle;
    • Snell, Meaghan;
    • Curtis, Meredith;
    • Luca, Stephanie;
    • Buera, Jason;
    • Arje, Danielle;
    • Reuter, Miriam S.;
    • Thiruvahindrapuram, Bhooma;
    • Trost, Brett;
    • Sung, Wilson W. L.;
    • Yuen, Ryan K. C.;
    • Chitayat, David;
    • Mendoza-Londono, Roberto;
    • Stavropoulos, D. James;
    • Scherer, Stephen W.;
    • Marshall, Christian R.;
    • Cohn, Ronald D.
    Publication type:
    Article

  • Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data.

    Published in:
    Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1178715
    By:
    • Bertholim-Nasciben, Luciana;
    • Scliar, Marilia O.;
    • Debortoli, Guilherme;
    • Thiruvahindrapuram, Bhooma;
    • Scherer, Stephen W.;
    • Duarte, Yeda A. O.;
    • Zatz, Mayana;
    • Suarez-Kurtz, Guilherme;
    • Parra, Esteban J.;
    • Naslavsky, Michel S.
    Publication type:
    Article

  • Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways.

    Published in:
    PLoS Genetics, 2012, v. 8, n. 8, p. 1, doi. 10.1371/journal.pgen.1002843
    By:
    • Silversides, Candice K.;
    • Lionel, Anath C.;
    • Costain, Gregory;
    • Merico, Daniele;
    • Migita, Ohsuke;
    • Liu, Ben;
    • Yuen, Tracy;
    • Rickaby, Jessica;
    • Thiruvahindrapuram, Bhooma;
    • Marshall, Christian R.;
    • Scherer, Stephen W.;
    • Bassett, Anne S.
    Publication type:
    Article

  • Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies.

    Published in:
    Prenatal Diagnosis, 2022, v. 42, n. 7, p. 822, doi. 10.1002/pd.6108
    By:
    • Wang, Yiming;
    • Greenfeld, Elena;
    • Watkins, Nicholas;
    • Belesiotis, Peter;
    • Zaidi, Syed H.;
    • Marshall, Christian;
    • Thiruvahindrapuram, Bhooma;
    • Shannon, Patrick;
    • Roifman, Maian;
    • Chong, Karen;
    • Chitayat, David;
    • Stavropoulos, Dimitri James;
    • Noor, Abdul
    Publication type:
    Article

  • Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

    Published in:
    JAMA: Journal of the American Medical Association, 2015, v. 314, n. 9, p. 895, doi. 10.1001/jama.2015.10078
    By:
    • 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;
    • Zhuozhi Wang;
    • Wei, John;
    • Howe, Jennifer L.;
    • Gazzellone, Matthew J.;
    • Lau, Lynette;
    • Sung, Wilson W. L.;
    • Whitten, Kathy
    Publication type:
    Article

  • Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease.

    Published in:
    PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0217846
    By:
    • Frenkel, Svetlana;
    • Bernstein, Charles N.;
    • Sargent, Michael;
    • Kuang, Qin;
    • Jiang, Wenxin;
    • Wei, John;
    • Thiruvahindrapuram, Bhooma;
    • Spriggs, Elizabeth;
    • Scherer, Stephen W.;
    • Hu, Pingzhao
    Publication type:
    Article

  • The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

    Published in:
    2018
    By:
    • 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.;
    • Lu, Chao;
    • Nalpathamkalam, Thomas;
    • Sung, Wilson W.L.;
    • Wang, Zhuozhi;
    • Patel, Rohan V.
    Publication type:
    journal article

  • High resolution genomic analyses of a clinically defined autism spectrum disorder cohort.

    Published in:
    International Journal of Developmental Neuroscience, 2015, v. 47, p. 76, doi. 10.1016/j.ijdevneu.2015.04.208
    By:
    • Tammimies, Kristiina;
    • Fernandez, Bridget A.;
    • Walker, Susan;
    • Thiruvahindrapuram, Bhooma;
    • Kaur, Gaganjot;
    • Lionel, Anath C.;
    • Roberts, Wendy;
    • Weksberg, Rosanna;
    • Howe, Jennifer L.;
    • Uddin, Mohammed;
    • Yuen, Ryan K.C.;
    • Wang, Zhuozhi;
    • Szatmari, Peter;
    • Whitten, Kathy;
    • Vardy, Cathy;
    • Crosbie, Victoria;
    • Luscombe, Sandra;
    • Doyle, Tyna;
    • Stuckless, Susan;
    • Merico, Daniele
    Publication type:
    Article

  • Copy number variation in fetal alcohol spectrum disorder.

    Published in:
    Biochemistry & Cell Biology, 2018, v. 96, n. 2, p. 161, doi. 10.1139/bcb-2017-0241
    By:
    • Zarrei, Mehdi;
    • Hicks, Geoffrey G.;
    • Reynolds, James N.;
    • Thiruvahindrapuram, Bhooma;
    • Engchuan, Worrawat;
    • Pind, Molly;
    • Lamoureux, Sylvia;
    • Wei, John;
    • Wang, Zhouzhi;
    • Marshall, Christian R.;
    • Wintle, Richard F.;
    • Chudley, Albert E.;
    • Scherer, Stephen W.
    Publication type:
    Article