Anath C. Lionel, Ph.D. - Publications

2014 Molecular and Medical Genetics University of Toronto, Toronto, ON, Canada 
Genetics, Neuroscience Biology, Mental Health

50 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 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, ... ... Lionel AC, et al. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. 12: 427-429. PMID 30759379 DOI: 10.1016/j.stemcr.2019.01.008  0.36
2018 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, ... ... Lionel AC, et al. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. PMID 30392976 DOI: 10.1016/j.stemcr.2018.10.003  0.36
2017 Lowther C, Merico D, Costain G, Waserman J, Boyd K, Noor A, Speevak M, Stavropoulos DJ, Wei J, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia. Genome Medicine. 9: 105. PMID 29187259 DOI: 10.1186/s13073-017-0488-z  0.36
2017 Ejaz R, Lionel AC, Blaser S, Walker S, Scherer SW, Babul-Hirji R, Marshall CR, Stavropoulos DJ, Chitayat D. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. American Journal of Medical Genetics. Part A. PMID 28840640 DOI: 10.1002/ajmg.a.38352  0.36
2017 Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28771251 DOI: 10.1038/gim.2017.119  0.36
2016 Mosca SJ, Langevin LM, Dewey D, Innes AM, Lionel AC, Marshall CC, Scherer SW, Parboosingh JS, Bernier FP. Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. Journal of Medical Genetics. PMID 27489308 DOI: 10.1136/jmedgenet-2016-103818  0.36
2016 Lionel AC, Monfared N, Scherer SW, Marshall CR, Mercimek-Mahmutoglu S. MED23-associated refractory epilepsy successfully treated with the ketogenic diet. American Journal of Medical Genetics. Part A. PMID 27311965 DOI: 10.1002/ajmg.a.37802  0.36
2016 Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, ... ... Lionel AC, et al. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27195815 DOI: 10.1038/gim.2016.54  0.36
2015 Costain G, Lionel AC, Ogura L, Marshall CR, Scherer SW, Silversides CK, Bassett AS. Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. International Journal of Cardiology. 204: 115-121. PMID 26655555 DOI: 10.1016/j.ijcard.2015.11.127  0.36
2015 Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, et al. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Jama. 314: 895-903. PMID 26325558 DOI: 10.1001/jama.2015.10078  0.36
2015 Noor A, Dupuis L, Mittal K, Lionel AC, Marshall CR, Scherer SW, Stockley T, Vincent JB, Mendoza-Londono R, Stavropoulos DJ. 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. Human Mutation. 36: 689-93. PMID 25884337 DOI: 10.1002/humu.22800  0.36
2015 Engchuan W, Dhindsa K, Lionel AC, Scherer SW, Chan JH, Merico D. Performance of case-control rare copy number variation annotation in classification of autism. Bmc Medical Genomics. 8: S7. PMID 25783485 DOI: 10.1186/1755-8794-8-S1-S7  0.36
2015 Meyer M, Reimand J, Lan X, Head R, Zhu X, Kushida M, Bayani J, Pressey JC, Lionel AC, Clarke ID, Cusimano M, Squire JA, Scherer SW, Bernstein M, Woodin MA, et al. Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity. Proceedings of the National Academy of Sciences of the United States of America. 112: 851-6. PMID 25561528 DOI: 10.1073/pnas.1320611111  0.36
2015 Woodbury-Smith M, Paterson AD, Thiruvahindrapduram B, Lionel AC, Marshall CR, Merico D, Fernandez BA, Duku E, Sutcliffe JS, O'Conner I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, et al. Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. Human Genetics. 134: 191-201. PMID 25432440 DOI: 10.1007/s00439-014-1513-6  0.36
2015 Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 149-57. PMID 25077648 DOI: 10.1038/gim.2014.83  0.36
2014 Uddin M, Thiruvahindrapuram B, Walker S, Wang Z, Hu P, Lamoureux S, Wei J, MacDonald JR, Pellecchia G, Lu C, Lionel AC, Gazzellone MJ, McLaughlin JR, Brown C, Andrulis IL, et al. A high-resolution copy-number variation resource for clinical and population genetics. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25503493 DOI: 10.1038/gim.2014.178  0.36
2014 Gazzellone MJ, Zhou X, Lionel AC, Uddin M, Thiruvahindrapuram B, Liang S, Sun C, Wang J, Zou M, Tammimies K, Walker S, Selvanayagam T, Wei J, Wang Z, Wu L, et al. Copy number variation in Han Chinese individuals with autism spectrum disorder. Journal of Neurodevelopmental Disorders. 6: 34. PMID 25170348 DOI: 10.1186/1866-1955-6-34  0.36
2014 Mokhtar SS, Marshall CR, Phipps ME, Thiruvahindrapuram B, Lionel AC, Scherer SW, Peng HB. Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia. Plos One. 9: e100371. PMID 24956385 DOI: 10.1371/journal.pone.0100371  0.36
2014 Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, et al. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. Journal of Neurodevelopmental Disorders. 6: 9. PMID 24834135 DOI: 10.1186/1866-1955-6-9  0.36
2014 Costain G, Lionel AC, Fu F, Stavropoulos DJ, Gazzellone MJ, Marshall CR, Scherer SW, Bassett AS. Adult neuropsychiatric expression and familial segregation of 2q13 duplications. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 165: 337-44. PMID 24807792 DOI: 10.1002/ajmg.b.32236  0.36
2014 Noor A, Lionel AC, Cohen-Woods S, Moghimi N, Rucker J, Fennell A, Thiruvahindrapuram B, Kaufman L, Degagne B, Wei J, Parikh SV, Muglia P, Forte J, Scherer SW, Kennedy JL, et al. Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 165: 303-13. PMID 24700553 DOI: 10.1002/ajmg.b.32232  0.36
2014 Kamien B, Lionel AC, Bain N, Scherer SW, Hunter M. Outfoxed by RBFOX1-a caution about ascertainment bias. American Journal of Medical Genetics. Part A. 164: 1411-8. PMID 24664471 DOI: 10.1002/ajmg.a.36458  0.36
2014 Lowther C, Costain G, Melvin R, Stavropoulos DJ, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Adult expression of a 3q13.31 microdeletion. Molecular Cytogenetics. 7: 23. PMID 24650298 DOI: 10.1186/1755-8166-7-23  0.36
2014 Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB. Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics. 15: 117-27. PMID 24643514 DOI: 10.1007/s10048-014-0394-0  0.36
2014 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, et al. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Human Molecular Genetics. 23: 2752-68. PMID 24381304 DOI: 10.1093/hmg/ddt669  0.36
2013 Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS. Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Human Molecular Genetics. 22: 4485-501. PMID 23813976 DOI: 10.1093/hmg/ddt297  0.36
2013 Noh HJ, Ponting CP, Boulding HC, Meader S, Betancur C, Buxbaum JD, Pinto D, Marshall CR, Lionel AC, Scherer SW, Webber C. Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. Plos Genetics. 9: e1003523. PMID 23754953 DOI: 10.1371/journal.pgen.1003523  0.36
2013 Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, et al. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Human Molecular Genetics. 22: 2055-66. PMID 23393157 DOI: 10.1093/hmg/ddt056  0.36
2013 Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, et al. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. Journal of Medical Genetics. 50: 163-73. PMID 23335808 DOI: 10.1136/jmedgenet-2012-101288  0.36
2013 Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, et al. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American Journal of Human Genetics. 92: 210-20. PMID 23332918 DOI: 10.1016/j.ajhg.2012.12.011  0.36
2013 Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS. 1q21.1 Microduplication expression in adults. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 282-9. PMID 23018752 DOI: 10.1038/gim.2012.129  0.36
2012 Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D, Rickaby J, Lu C, Szatmari P, Roberts W, Fernandez BA, Marshall CR, Hatchwell E, Eis PS, Scherer SW. A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda, Md.). 2: 1665-85. PMID 23275889 DOI: 10.1534/g3.112.004689  0.36
2012 Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, et al. Rare copy number variants contribute to congenital left-sided heart disease. Plos Genetics. 8: e1002903. PMID 22969434 DOI: 10.1371/journal.pgen.1002903  0.36
2012 Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. Plos Genetics. 8: e1002843. PMID 22912587 DOI: 10.1371/journal.pgen.1002843  0.36
2012 Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, Zichner T, Stütz AM, Korshunov A, Reimand J, Schumacher SE, Beroukhim R, Ellison DW, Marshall CR, Lionel AC, Mack S, et al. Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature. 488: 49-56. PMID 22832581 DOI: 10.1038/nature11327  0.36
2012 Al-Sukhni W, Joe S, Lionel AC, Zwingerman N, Zogopoulos G, Marshall CR, Borgida A, Holter S, Gropper A, Moore S, Bondy M, Klein AP, Petersen GM, Rabe KG, Schwartz AG, et al. Identification of germline genomic copy number variation in familial pancreatic cancer. Human Genetics. 131: 1481-94. PMID 22665139 DOI: 10.1007/s00439-012-1183-1  0.36
2012 Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proceedings of the National Academy of Sciences of the United States of America. 109: 7974-81. PMID 22566635 DOI: 10.1073/pnas.1120210109  0.36
2012 Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. American Journal of Human Genetics. 90: 879-87. PMID 22503632 DOI: 10.1016/j.ajhg.2012.03.017  0.36
2012 Williams NM, Franke B, Mick E, Anney RJ, Freitag CM, Gill M, Thapar A, O'Donovan MC, Owen MJ, Holmans P, Kent L, Middleton F, Zhang-James Y, Liu L, Meyer J, ... ... Lionel AC, et al. Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. The American Journal of Psychiatry. 169: 195-204. PMID 22420048  0.36
2012 Vaags AK, Lionel AC, Sato D, Goodenberger M, Stein QP, Curran S, Ogilvie C, Ahn JW, Drmic I, Senman L, Chrysler C, Thompson A, Russell C, Prasad A, Walker S, et al. Rare deletions at the neurexin 3 locus in autism spectrum disorder. American Journal of Human Genetics. 90: 133-41. PMID 22209245 DOI: 10.1016/j.ajhg.2011.11.025  0.36
2012 Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R. Severe intellectual disability and autistic features associated with microduplication 2q23.1. European Journal of Human Genetics : Ejhg. 20: 398-403. PMID 22085900 DOI: 10.1038/ejhg.2011.199  0.36
2011 Lionel AC, Crosbie J, Barbosa N, Goodale T, Thiruvahindrapuram B, Rickaby J, Gazzellone M, Carson AR, Howe JL, Wang Z, Wei J, Stewart AF, Roberts R, McPherson R, Fiebig A, et al. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Science Translational Medicine. 3: 95ra75. PMID 21832240 DOI: 10.1126/scitranslmed.3002464  0.36
2011 Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, et al. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nature Biotechnology. 29: 512-20. PMID 21552272 DOI: 10.1038/nbt.1852  0.36
2011 Ghahramani Seno MM, Kwan BY, Lee-Ng KK, Moessner R, Lionel AC, Marshall CR, Scherer SW. Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene. Bmc Medical Genetics. 12: 45. PMID 21439084 DOI: 10.1186/1471-2350-12-45  0.36
2011 Wintle RF, Lionel AC, Hu P, Ginsberg SD, Pinto D, Thiruvahindrapduram B, Wei J, Marshall CR, Pickett J, Cook EH, Scherer SW. A genotype resource for postmortem brain samples from the Autism Tissue Program. Autism Research : Official Journal of the International Society For Autism Research. 4: 89-97. PMID 21254448 DOI: 10.1002/aur.173  0.36
2010 Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science Translational Medicine. 2: 49ra68. PMID 20844286 DOI: 10.1126/scitranslmed.3001267  0.36
2010 Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, ... ... Lionel AC, et al. A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics. 19: 4072-82. PMID 20663923 DOI: 10.1093/hmg/ddq307  0.36
2010 Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, ... ... Lionel AC, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466: 368-72. PMID 20531469 DOI: 10.1038/nature09146  0.36
2008 Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Human Molecular Genetics. 17: 4045-53. PMID 18806272 DOI: 10.1093/hmg/ddn307  0.36
2008 Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, et al. Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics. 82: 477-88. PMID 18252227 DOI: 10.1016/j.ajhg.2007.12.009  0.36
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