| 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 |
0.437 |
|
| 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 |
0.544 |
|
| 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 |
0.54 |
|
| 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 |
0.538 |
|
| 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 |
0.552 |
|
| 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 |
0.552 |
|
| 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 |
0.464 |
|
| 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 |
0.505 |
|
| 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 |
0.515 |
|
| 2015 |
Tammimies K, Fernandez BA, Walker S, Thiruvahindrapuram B, Kaur G, Lionel AC, Roberts W, Weksberg R, Howe JL, Uddin M, Yuen RK, Wang Z, Szatmari P, Whitten K, Vardy C, et al. High resolution genomic analyses of a clinically defined autism spectrum disorder cohort. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 47: 76. PMID 26531530 DOI: 10.1016/J.Ijdevneu.2015.04.208 |
0.566 |
|
| 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 |
0.589 |
|
| 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 |
0.616 |
|
| 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 |
0.586 |
|
| 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 |
0.476 |
|
| 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 |
0.647 |
|
| 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 |
0.534 |
|
| 2015 |
Lowther C, Speevak M, Armour C, Goh E, Graham G, Li C, Zeesman S, Nowaczyk MJ, Schultz L, Morra A, Nicolson R, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, ... ... Lionel AC, et al. MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations Journal of Medical Genetics. 52: A9.1-A9. DOI: 10.1136/Jmedgenet-2015-103578.23 |
0.581 |
|
| 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 |
0.565 |
|
| 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 |
0.629 |
|
| 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 |
0.557 |
|
| 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 |
0.598 |
|
| 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 |
0.633 |
|
| 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 |
0.633 |
|
| 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 |
0.577 |
|
| 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 |
0.574 |
|
| 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 |
0.622 |
|
| 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 |
0.621 |
|
| 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 |
0.538 |
|
| 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 |
0.53 |
|
| 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 |
0.582 |
|
| 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 |
0.603 |
|
| 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 |
0.594 |
|
| 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 |
0.56 |
|
| 2013 |
Hitz M, Lemieux-Perreault L, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras J, Thibeault M, Chetaille P, Montpetit A, Khairy P, et al. Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease Plos Genetics. 9. DOI: 10.1371/Annotation/8Bc63544-9Ed4-42Ca-A830-E8058Ab13Bab |
0.454 |
|
| 2013 |
Marshall CR, Lionel AC, Scherer SW. Copy Number Variation in Autism Spectrum Disorders The Neuroscience of Autism Spectrum Disorders. 145-154. DOI: 10.1016/B978-0-12-391924-3.00009-0 |
0.515 |
|
| 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 |
0.623 |
|
| 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 |
0.548 |
|
| 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 |
0.619 |
|
| 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 |
0.473 |
|
| 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 |
0.565 |
|
| 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 |
0.53 |
|
| 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 |
0.566 |
|
| 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 DOI: 10.1176/Appi.Ajp.2011.11060822 |
0.581 |
|
| 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 |
0.633 |
|
| 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 |
0.554 |
|
| 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 |
0.574 |
|
| 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 |
0.505 |
|
| 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 |
0.542 |
|
| 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 |
0.528 |
|
| 2011 |
Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clinical Genetics. 80: 435-43. PMID 21114665 DOI: 10.1111/J.1399-0004.2010.01578.X |
0.625 |
|
| 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 |
0.602 |
|
| 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 |
0.569 |
|
| 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 |
0.627 |
|
| 2008 |
Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, et al. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenetic and Genome Research. 123: 65-78. PMID 19287140 DOI: 10.1159/000184693 |
0.59 |
|
| 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 |
0.54 |
|
| 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 |
0.659 |
|
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