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Evolving Role of CAR T Cell Therapy in First- and Second-Line Treatment of Large B Cell Lymphoma.
Published in:
Current Oncology Reports, 2023, v. 25, n. 11, p. 1387, doi. 10.1007/s11912-023-01466-6
By:
- Lionel, Anath C.;
- Westin, Jason
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
Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 4, p. 337, doi. 10.1002/ajmg.b.32236
By:
- Costain, Gregory;
- Lionel, Anath C.;
- Fu, Fiona;
- Stavropoulos, Dimitri J.;
- Gazzellone, Matthew J.;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Bassett, Anne S.
Publication type:
Article
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2725, doi. 10.1002/ajmg.a.38352
By:
- Ejaz, Resham;
- Lionel, Anath C.;
- Blaser, Susan;
- Walker, Susan;
- Scherer, Stephen W.;
- Babul‐Hirji, Riyana;
- Marshall, Christian R.;
- Stavropoulos, Dimitri J.;
- Chitayat, David
Publication type:
Article
MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2421, doi. 10.1002/ajmg.a.37802
By:
- Lionel, Anath C.;
- Monfared, Nasim;
- Scherer, Stephen W.;
- Marshall, Christian R.;
- Mercimek‐Mahmutoglu, Saadet
Publication type:
Article
Outfoxed by RBFOX1-A caution about ascertainment bias.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1411, doi. 10.1002/ajmg.a.36458
By:
- Kamien, Benjamin;
- Lionel, Anath C.;
- Bain, Nicole;
- Scherer, Stephen W.;
- Hunter, Matthew
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
Erratum: A genotype resource for postmortem brain samples from the Autism Tissue Program.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2011, v. 4, n. 4, p. 314, doi. 10.1002/aur.211
By:
- Wintle, Richard F.;
- Lionel, Anath C.;
- Hu, Pingzhao;
- Ginsberg, Stephen D.;
- Pinto, Dalila;
- Thiruvahindrapduram, Bhooma;
- Wei, John;
- Marshall, Christian R.;
- Pickett, Jane;
- Cook, Edwin H.;
- Scherer, Stephen W.
Publication type:
Article
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2011, v. 4, n. 2, p. 89, doi. 10.1002/aur.173
By:
- Wintle, Richard F.;
- Lionel, Anath C.;
- Hu, Pingzhao;
- Ginsberg, Stephen D.;
- Pinto, Dalila;
- Thiruvahindrapduram, Bhooma;
- Wei, John;
- Marshall, Christian R.;
- Pickett, Jane;
- Cook, Edwin H.;
- Scherer, Stephen W.
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
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Published in:
Human Genetics, 2015, v. 134, n. 2, p. 191, doi. 10.1007/s00439-014-1513-6
By:
- Woodbury-Smith, Marc;
- Paterson, Andrew;
- Thiruvahindrapduram, Bhooma;
- Lionel, Anath;
- Marshall, Christian;
- Merico, Daniele;
- Kellam, Barbara;
- Tammimies, Kristiina;
- Walker, Susan;
- Yuen, Ryan;
- Uddin, Mohammed;
- Howe, Jennifer;
- Scherer, Stephen;
- Fernandez, Bridget;
- Whitten, Kathy;
- Duku, Eric;
- O'Conner, Irene;
- Chrysler, Christina;
- Thompson, Ann;
- Sutcliffe, James
Publication type:
Article
Identification of germline genomic copy number variation in familial pancreatic cancer.
Published in:
Human Genetics, 2012, v. 131, n. 9, p. 1481, doi. 10.1007/s00439-012-1183-1
By:
- Al-Sukhni, Wigdan;
- Joe, Sarah;
- Lionel, Anath;
- Zwingerman, Nora;
- Zogopoulos, George;
- Marshall, Christian;
- Borgida, Ayelet;
- Holter, Spring;
- Gropper, Aaron;
- Moore, Sara;
- Bondy, Melissa;
- Klein, Alison;
- Petersen, Gloria;
- Rabe, Kari;
- Schwartz, Ann;
- Syngal, Sapna;
- Scherer, Stephen;
- Gallinger, Steven
Publication type:
Article
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Published in:
Journal of Neurodevelopmental Disorders, 2014, v. 6, n. 1, p. 1, doi. 10.1186/1866-1955-6-9
By:
- Chénier, Sébastien;
- Yoon, Grace;
- Argiropoulos, Bob;
- Lauzon, Julie;
- Laframboise, Rachel;
- Joo Wook Ahn;
- Ogilvie, Caroline Mackie;
- Lionel, Anath C.;
- Marshall, Christian R.;
- Vaags, Andrea K.;
- Hashemi, Bita;
- Boisvert, Karine;
- Mathonnet, Géraldine;
- Tihy, Frédérique;
- So, Joyce;
- Scherer, Stephen W.;
- Lemyre, Emmanuelle;
- Stavropoulos, Dimitri J.
Publication type:
Article
Tyrosine kinase inhibitors and tumor lysis syndrome in hematologic malignancies: A systemic review.
Published in:
European Journal of Haematology, 2022, v. 109, n. 2, p. 166, doi. 10.1111/ejh.13786
By:
- Salter, Brittany;
- Burns, Ian;
- Fuller, Katherine;
- Eshaghpour, Ali;
- Lionel, Anath C.;
- Crowther, Mark
Publication type:
Article
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 398, doi. 10.1038/ejhg.2011.199
By:
- Chung, Brian HY;
- Mullegama, Sureni;
- Marshall, Christian R;
- Lionel, Anath C;
- Weksberg, Rosanna;
- Dupuis, Lucie;
- Brick, Lauren;
- Li, Chumei;
- Scherer, Stephen W;
- Aradhya, Swaroop;
- Stavropoulos, D James;
- Elsea, Sarah H;
- Mendoza-Londono, Roberto
Publication type:
Article
SINGLE CELL DERIVED CLONAL ANALYSIS OF HUMAN GLIOBLASTOMA LINKS FUNCTIONAL AND GENOMIC HETEROGENEITY.
Published in:
Neuro-Oncology, 2014, v. 16, n. suppl_3, p. iii14, doi. 10.1093/neuonc/nou206.51
By:
- Dirks, Peter B.;
- Meyer, Mona;
- Reimand, Jüri;
- Lan, Xiaoyang;
- Head, Renee;
- Zhu, Xueming;
- Kushida, Michelle;
- Bayani, Jane;
- Pressey, Jessica C.;
- Lionel, Anath;
- Clarke, Ian D.;
- Cusimano, Michael;
- Squire, Jeremy;
- Scherer, Stephen;
- Bernstein, Mark;
- Woodin, Melanie A.;
- Bader, Gary D.
Publication type:
Article
Performance of case-control rare copy number variation annotation in classification of autism.
Published in:
BMC Medical Genomics, 2015, v. 8, p. 1, doi. 10.1186/1755-8794-8-S1-S7
By:
- Worrawat Engchuan;
- Dhindsa, Kiret;
- Lionel, Anath C.;
- Scherer, Stephen W.;
- Chan, Jonathan H.;
- Merico, Daniele
Publication type:
Article
Patient-Reported Outcome Measures in Cancer Care: An Updated Systematic Review and Meta-Analysis.
Published in:
JAMA Network Open, 2024, v. 7, n. 8, p. e2424793, doi. 10.1001/jamanetworkopen.2024.24793
By:
- Balitsky, Amaris K.;
- Rayner, Daniel;
- Britto, Joanne;
- Lionel, Anath C.;
- Ginsberg, Lydia;
- Cho, Wanjae;
- Wilfred, Ann Mary;
- Sardar, Huda;
- Cantor, Nathan;
- Mian, Hira;
- Levine, Mark N.;
- Guyatt, Gordon H.
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
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 22, p. 4485, doi. 10.1093/hmg/ddt297
By:
- Costain, Gregory;
- Lionel, Anath C.;
- Merico, Daniele;
- Forsythe, Pamela;
- Russell, Kathryn;
- Lowther, Chelsea;
- Yuen, Tracy;
- Husted, Janice;
- Stavropoulos, Dimitri J.;
- Speevak, Marsha;
- Chow, Eva W.C.;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Bassett, Anne S.
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
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability.
Published in:
Science Translational Medicine, 2010, v. 2, n. 49, p. 1, doi. 10.1126/scitranslmed.3001267
By:
- Noor, Abdul;
- Whibley, Annabel;
- Marshall, Christian R.;
- Gianakopoulos, Peter J.;
- Piton, Amelie;
- Carson, Andrew R.;
- Orlic-Milacic, Marija;
- Lionel, Anath C.;
- Sato, Daisuke;
- Estes, Annette M.;
- Fiebig, Andreas;
- Franke, Andre;
- Schreiber, Stefan;
- Stewart, Alexandre F. R.;
- Roberts, Robert;
- McPherson, Ruth;
- Guter, Stephen J.;
- Cook Jr., Edwin H.;
- Dawson, Geraldine;
- Schellenberg, Gerard D.
Publication type:
Article
Subgroup-specific structural variation across 1,000 medulloblastoma genomes.
Published in:
Nature, 2012, v. 488, n. 7409, p. 49, doi. 10.1038/nature11327
By:
- Northcott, Paul A.;
- Shih, David J. H.;
- Peacock, John;
- Garzia, Livia;
- Sorana Morrissy, A.;
- Zichner, Thomas;
- Stütz, Adrian M.;
- Korshunov, Andrey;
- Reimand, Jüri;
- Schumacher, Steven E.;
- Beroukhim, Rameen;
- Ellison, David W.;
- Marshall, Christian R.;
- Lionel, Anath C.;
- Mack, Stephen;
- Dubuc, Adrian;
- Yao, Yuan;
- Ramaswamy, Vijay;
- Luu, Betty;
- Rolider, Adi
Publication type:
Article
Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism.
Published in:
PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003523
By:
- Noh, Hyun Ji;
- Ponting, Chris P.;
- Boulding, Hannah C.;
- Meader, Stephen;
- Betancur, Catalina;
- Buxbaum, Joseph D.;
- Pinto, Dalila;
- Marshall, Christian R.;
- Lionel, Anath C.;
- Scherer, Stephen W.;
- Webber, Caleb
Publication type:
Article
Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease.
Published in:
PLoS Genetics, 2012, v. 8, n. 9, p. 1, doi. 10.1371/journal.pgen.1002903
By:
- Hitz, Marc-Phillip;
- Lemieux-Perreault, Louis-Philippe;
- Marshall, Christian;
- Feroz-Zada, Yassamin;
- Davies, Robbie;
- Shi Wei Yang;
- Lionel, Anath Christopher;
- D'Amours, Guylaine;
- Lemyre, Emmanuelle;
- Cullum, Rebecca;
- Bigras, Jean-Luc;
- Thibeault, Maryse;
- Chetaille, Philippe;
- Montpetit, Alexandre;
- Khairy, Paul;
- Overduin, Bert;
- Klaassen, Sabine;
- Hoodless, Pamela;
- Nemer, Mona;
- Stewart, Alexandre F. R.
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
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
Published in:
Human Mutation, 2015, v. 36, n. 7, p. 689, doi. 10.1002/humu.22800
By:
- Noor, Abdul;
- Dupuis, Lucie;
- Mittal, Kirti;
- Lionel, Anath C.;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Stockley, Tracy;
- Vincent, John B.;
- Mendoza‐Londono, Roberto;
- Stavropoulos, Dimitri J.
Publication type:
Article
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 9, p. 1717, doi. 10.1093/hmg/ddp082
By:
- Bassett, Anne S.;
- Marshall, Christian R.;
- Lionel, Anath C.;
- Chow, Eva W.C.;
- Scherer, Stephen W.
Publication type:
Article
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 24, p. 4045, doi. 10.1093/hmg/ddn307
By:
- Bassett, Anne S.;
- Marshall, Christian R.;
- Lionel, Anath C.;
- Chow, Eva W.C.;
- Scherer, Stephen W.
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
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Published in:
Neurogenetics, 2014, v. 15, n. 2, p. 117, doi. 10.1007/s10048-014-0394-0
By:
- Egger, Gerald;
- Roetzer, Katharina;
- Noor, Abdul;
- Lionel, Anath;
- Mahmood, Huda;
- Schwarzbraun, Thomas;
- Boright, Oliver;
- Mikhailov, Anna;
- Marshall, Christian;
- Windpassinger, Christian;
- Petek, Erwin;
- Scherer, Stephen;
- Kaschnitz, Wolfgang;
- Vincent, John
Publication type:
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
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0488-z
By:
- Lowther, Chelsea;
- Merico, Daniele;
- Costain, Gregory;
- Waserman, Jack;
- Boyd, Kerry;
- Noor, Abdul;
- Speevak, Marsha;
- Stavropoulos, Dimitri J.;
- Wei, John;
- Lionel, Anath C.;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Bassett, Anne S.
Publication type:
Article
Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.
Published in:
BMC Medical Genetics, 2011, v. 12, n. 1, p. 45, doi. 10.1186/1471-2350-12-45
By:
- Seno, Mohammad M. Ghahramani;
- Kwan, Benjamin Y. M.;
- Lee-Ng, Ka Ki M.;
- Moessner, Rainald;
- Lionel, Anath C.;
- Marshall, Christian R.;
- Scherer, Stephen W.
Publication type:
Article

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