Michael E. Talkowski, Ph.D. - Publications

Affiliations: 
2008 University of Pittsburgh, Pittsburgh, PA, United States 
Area:
Genetics, Epidemiology, Neuroscience Biology

110 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
2024 Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, ... ... Talkowski ME, et al. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. Hgg Advances. 100273. PMID 38297832 DOI: 10.1016/j.xhgg.2024.100273  0.313
2023 Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, ... ... Talkowski ME, et al. Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features. Medrxiv : the Preprint Server For Health Sciences. PMID 37808847 DOI: 10.1101/2023.09.27.23294269  0.308
2023 Liao C, Moyses-Oliveira M, De Esch CEF, Bhavsar R, Nuttle X, Li A, Yu A, Burt ND, Erdin S, Fu JM, Wang M, Morley T, Han L, Dion PA, Rouleau GA, ... ... Talkowski ME, et al. Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies. Cell Genomics. 3: 100277. PMID 37082147 DOI: 10.1016/j.xgen.2023.100277  0.305
2022 Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Carey CE, Baya N, Bybjerg-Grauholm J, Berretta S, Macosko EZ, Sebat J, O'Connor LJ, ... ... Talkowski ME, et al. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nature Genetics. PMID 36280734 DOI: 10.1038/s41588-022-01203-y  0.306
2022 Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, ... ... Talkowski ME, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics. PMID 35982160 DOI: 10.1038/s41588-022-01104-0  0.361
2020 Chen H, Victor AK, Klein J, Tacer KF, Tai DJ, de Esch C, Nuttle A, Temirov J, Burnett LC, Rosenbaum M, Zhang Y, Ding L, Moresco JJ, Diedrich JK, Yates JR, ... ... Talkowski ME, et al. Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production. Jci Insight. 5. PMID 32879135 DOI: 10.1172/Jci.Insight.138576  0.333
2020 Moyses-Oliveira M, Yadav R, Erdin S, Talkowski ME. New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders. Current Opinion in Genetics & Development. 65: 195-206. PMID 32846283 DOI: 10.1016/J.Gde.2020.07.001  0.371
2020 Hu S, Vich Vila A, Gacesa R, Collij V, Stevens C, Fu JM, Wong I, Talkowski ME, Rivas MA, Imhann F, Bolte L, van Dullemen H, Dijkstra G, Visschedijk MC, Festen EA, et al. Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD. Gut. PMID 32651235 DOI: 10.1136/Gutjnl-2019-319706  0.308
2020 Han L, Zhao X, Benton ML, Perumal T, Collins RL, Hoffman GE, Johnson JS, Sloofman L, Wang HZ, Stone MR, Brennand KJ, Brand H, Sieberts SK, Marenco S, ... ... Talkowski M, et al. Functional annotation of rare structural variation in the human brain. Nature Communications. 11: 2990. PMID 32533064 DOI: 10.1038/S41467-020-16736-1  0.397
2020 Seabra CM, Aneichyk T, Erdin S, Tai DJC, De Esch CEF, Razaz P, An Y, Manavalan P, Ragavendran A, Stortchevoi A, Abad C, Young JI, Maciel P, Talkowski ME, Gusella JF. Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. Molecular Autism. 11: 45. PMID 32503625 DOI: 10.1186/S13229-020-00354-1  0.353
2020 Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, ... ... Talkowski ME, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 581: 434-443. PMID 32461654 DOI: 10.1038/S41586-020-2308-7  0.393
2020 Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, ... ... Talkowski ME, et al. A structural variation reference for medical and population genetics. Nature. 581: 444-451. PMID 32461652 DOI: 10.1038/S41586-020-2287-8  0.397
2020 Werling DM, Pochareddy S, Choi J, An JY, Sheppard B, Peng M, Li Z, Dastmalchi C, Santpere G, Sousa AMM, Tebbenkamp ATN, Kaur N, Gulden FO, Breen MS, Liang L, ... ... Talkowski ME, et al. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Reports. 31: 107489. PMID 32268104 DOI: 10.1016/J.Celrep.2020.03.053  0.418
2020 Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, ... ... Talkowski ME, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. PMID 31981491 DOI: 10.1016/J.Cell.2019.12.036  0.416
2020 McClain L, Mansour H, Ibrahim I, Klei L, Fathi W, Wood J, Kodavali C, Maysterchuk A, Wood S, El-Chennawi F, Ibrahim N, Eissa A, El-Bahaei W, El Sayed H, Yassein A, ... ... Talkowski M, et al. Age dependent association of inbreeding with risk for schizophrenia in Egypt. Schizophrenia Research. PMID 31928911 DOI: 10.1016/J.Schres.2019.10.039  0.53
2019 Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tüttelmann F, MacQueen AJ, Morton CC. SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. American Journal of Human Genetics. PMID 31866047 DOI: 10.1016/J.Ajhg.2019.11.013  0.388
2019 Middelkamp S, Vlaar JM, Giltay J, Korzelius J, Besselink N, Boymans S, Janssen R, de la Fonteijne L, van Binsbergen E, van Roosmalen MJ, Hochstenbach R, Giachino D, Talkowski ME, Kloosterman WP, Cuppen E. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants. Genome Medicine. 11: 79. PMID 31801603 DOI: 10.1186/S13073-019-0692-0  0.397
2019 Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. American Journal of Medical Genetics. Part A. PMID 31633297 DOI: 10.1002/Ajmg.A.61392  0.371
2019 Wang CY, Brand H, Shaw ND, Talkowski ME, Lee JT. Role of the Chromosome Architectural Factor SMCHD1 in X Chromosome Inactivation, Gene Regulation, and Disease in Humans. Genetics. PMID 31420322 DOI: 10.1534/Genetics.119.302600  0.342
2019 Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, ... ... Talkowski ME, et al. Primary cilia defects causing mitral valve prolapse. Science Translational Medicine. 11. PMID 31118289 DOI: 10.1126/Scitranslmed.Aax0290  0.346
2019 Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, ... ... Talkowski ME, et al. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications. 10: 1784. PMID 30992455 DOI: 10.1038/S41467-018-08148-Z  0.384
2019 Murthy V, Tebaldi T, Yoshida T, Erdin S, Calzonetti T, Vijayvargia R, Tripathi T, Kerschbamer E, Seong IS, Quattrone A, Talkowski ME, Gusella JF, Georgopoulos K, MacDonald ME, Biagioli M. Hypomorphic mutation of the mouse Huntington's disease gene orthologue. Plos Genetics. 15: e1007765. PMID 30897080 DOI: 10.1371/Journal.Pgen.1007765  0.357
2019 Currall BB, Antolik CW, Collins RL, Talkowski ME. Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries. Methods in Molecular Biology (Clifton, N.J.). 1885: 251-265. PMID 30506203 DOI: 10.1007/978-1-4939-8889-1_17  0.348
2019 An J, Lin K, Zhu L, Werling D, Dong S, Brand H, Wang H, Zhao X, Sestan N, State M, Willsey J, Talkowski M, Devlin B, Roeder K, Sanders S. INSIGHTS INTO THE CONTRIBUTION OF RARE NONCODING VARIATION IN AUTISM SPECTRUM DISORDER THROUGH FAMILY-BASED WHOLE-GENOME SEQUENCING European Neuropsychopharmacology. 29: S36. DOI: 10.1016/J.Euroneuro.2019.07.073  0.362
2019 Satterstrom F, Kosmicki J, Wang J, Collins R, de Rubeis S, Breen M, Gerges S, Børglum A, Buxbaum J, Cutler D, Devlin B, Roeder K, Sanders S, Talkowski M, Daly M. 31DISCOVERY AND CHARACTERIZATION OF 102 GENES ASSOCIATED WITH AUTISM FROM EXOME SEQUENCING OF 37,269 INDIVIDUALS European Neuropsychopharmacology. 29: S1083-S1084. DOI: 10.1016/J.Euroneuro.2018.08.038  0.39
2019 Werling D, Brand H, An J, Stone M, Glessner J, Zhu L, Collins R, Daly M, State M, Quinlan A, Marth G, Roeder K, Devlin B, Sanders S, Talkowski M. LIMITED CONTRIBUTION OF RARE, NONCODING VARIATION TO AUTISM SPECTRUM DISORDER FROM SEQUENCING OF 2,076 GENOMES IN QUARTET FAMILIES European Neuropsychopharmacology. 29: S784-S785. DOI: 10.1016/J.Euroneuro.2017.08.010  0.465
2018 Arbogast T, Razaz P, Ellegood J, McKinstry S, Erdin S, Currall B, Aneichyk T, Lerch JP, Qiu LR, Rodriguiz RM, Mark Henkelman R, Talkowski ME, Wetsel WC, Golzio C, Katsanis N. Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. Human Molecular Genetics. PMID 30590535 DOI: 10.1093/Hmg/Ddy436  0.374
2018 Khera AV, Chaffin M, Zekavat SM, Collins RL, Roselli C, Natarajan P, Lichtman JH, D'Onofrio G, Mattera JA, Dreyer RP, Spertus JA, Taylor KD, Psaty BM, Rich SS, Post WS, ... ... Talkowski ME, et al. Whole Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized with Early-Onset Myocardial Infarction. Circulation. PMID 30586733 DOI: 10.1161/Circulationaha.118.035658  0.322
2018 An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, ... ... Talkowski ME, et al. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science (New York, N.Y.). 362. PMID 30545852 DOI: 10.1126/Science.Aat6576  0.397
2018 Loh PR, Genovese G, Handsaker RE, Finucane HK, Reshef YA, Palamara PF, Birmann BM, Talkowski ME, Bakhoum SF, McCarroll SA, Price AL. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature. PMID 29995854 DOI: 10.1038/S41586-018-0321-X  0.382
2018 Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, ... ... Talkowski ME, et al. Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes. American Journal of Human Genetics. PMID 29805044 DOI: 10.1016/J.Ajhg.2018.04.005  0.359
2018 Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, ... ... Talkowski ME, et al. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nature Genetics. PMID 29700473 DOI: 10.1038/S41588-018-0107-Y  0.453
2018 Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, ... ... Talkowski ME, et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 172: 897-909.e21. PMID 29474918 DOI: 10.1016/J.Cell.2018.02.011  0.367
2018 Zepeda-Mendoza CJ, Bardon A, Kammin T, Harris DJ, Cox H, Redin C, Ordulu Z, Talkowski ME, Morton CC. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. European Journal of Human Genetics : Ejhg. PMID 29321672 DOI: 10.1038/S41431-017-0068-0  0.381
2018 Talkowski M. 20.1 DISSECTING THE FUNCTIONAL CONSEQUENCES OF RECIPROCAL GENOMIC DISORDERS Schizophrenia Bulletin. 44: S33-S33. DOI: 10.1093/Schbul/Sby014.080  0.434
2017 Paulsen BS, Mandal PK, Frock RL, Boyraz B, Yadav R, Upadhyayula S, Gutierrez-Martinez P, Ebina W, Fasth A, Kirchhausen T, Talkowski ME, Agarwal S, Alt FW, Rossi DJ. Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR-Cas9 genome editing. Nature Biomedical Engineering. 1: 878-888. PMID 31015609 DOI: 10.1038/S41551-017-0145-2  0.329
2017 Cretu Stancu M, van Roosmalen MJ, Renkens I, Nieboer MM, Middelkamp S, de Ligt J, Pregno G, Giachino D, Mandrile G, Espejo Valle-Inclan J, Korzelius J, de Bruijn E, Cuppen E, Talkowski ME, Marschall T, et al. Mapping and phasing of structural variation in patient genomes using nanopore sequencing. Nature Communications. 8: 1326. PMID 29109544 DOI: 10.1038/S41467-017-01343-4  0.342
2017 Pedersen BS, Collins RL, Talkowski ME, Quinlan AR. Indexcov: fast coverage quality control for whole-genome sequencing. Gigascience. PMID 29048539 DOI: 10.1093/Gigascience/Gix090  0.349
2017 Hennig KM, Fass DM, Zhao WN, Sheridan SD, Fu T, Erdin S, Stortchevoi A, Lucente D, Cody JD, Sweetser D, Gusella JF, Talkowski ME, Haggarty SJ. WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. Molecular Neuropsychiatry. 3: 53-71. PMID 28879201 DOI: 10.1159/000475666  0.322
2017 Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, ... ... Talkowski ME, et al. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. American Journal of Human Genetics. PMID 28735859 DOI: 10.1016/J.Ajhg.2017.06.011  0.376
2017 Seabra CM, Szoko N, Erdin S, Ragavendran A, Stortchevoi A, Maciel P, Lundberg K, Schlatzer D, Smith J, Talkowski ME, Gusella JF, Natowicz MR. A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings. American Journal of Medical Genetics. Part A. PMID 28691782 DOI: 10.1002/Ajmg.A.38327  0.37
2017 Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, et al. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. Jama Neurology. PMID 28558098 DOI: 10.1001/Jamaneurol.2017.0666  0.348
2017 Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, ... ... Talkowski ME, et al. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biology. 18: 36. PMID 28260531 DOI: 10.1186/S13059-017-1158-6  0.348
2017 Jacobsen JC, Erdin S, Chiang C, Hanscom C, Handley RR, Barker DD, Stortchevoi A, Blumenthal I, Reid SJ, Snell RG, MacDonald ME, Morton AJ, Ernst C, Gusella JF, Talkowski ME. Potential molecular consequences of transgene integration: The R6/2 mouse example. Scientific Reports. 7: 41120. PMID 28120936 DOI: 10.1038/Srep41120  0.339
2017 Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, ... ... Talkowski ME, et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. PMID 28067909 DOI: 10.1038/Ng.3743  0.352
2016 Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, ... ... Talkowski ME, et al. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature Genetics. PMID 27841880 DOI: 10.1038/Ng.3720  0.421
2016 Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, ... ... Talkowski ME, et al. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. American Journal of Medical Genetics. Part A. PMID 27759917 DOI: 10.1002/Ajmg.A.38021  0.405
2016 Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall BF, Gerrol P, Hayden MA, Hussain N, Kanengisser-Pines B, ... ... Talkowski ME, et al. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. American Journal of Human Genetics. PMID 27745839 DOI: 10.1016/J.Ajhg.2016.08.022  0.398
2016 Schilit SL, Currall BB, Yao R, Hanscom C, Collins RL, Pillalamarri V, Lee DY, Kammin T, Zepeda-Mendoza CJ, Mononen T, Nolan LS, Gusella JF, Talkowski ME, Shen J, Morton CC. Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. European Journal of Human Genetics : Ejhg. PMID 27381092 DOI: 10.1038/Ejhg.2016.64  0.347
2016 Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nature Neuroscience. PMID 26829649 DOI: 10.1038/Nn.4235  0.387
2016 Smoller JW, Karlson EW, Green RC, Kathiresan S, MacArthur DG, Talkowski ME, Murphy SN, Weiss ST. An eMERGE Clinical Center at Partners Personalized Medicine. Journal of Personalized Medicine. 6. PMID 26805891 DOI: 10.3390/Jpm6010005  0.31
2015 Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, ... ... Talkowski ME, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87: 1215-1233. PMID 26402605 DOI: 10.1016/J.Neuron.2015.09.016  0.435
2015 Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, et al. Mutations in DCHS1 cause mitral valve prolapse. Nature. PMID 26258302 DOI: 10.1038/Nature14670  0.313
2015 Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge JC, Gusella JF, Sanders SJ, Talkowski ME. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. American Journal of Human Genetics. 97: 170-6. PMID 26094575 DOI: 10.1016/J.Ajhg.2015.05.012  0.406
2015 Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA, van Haelst MM, Andrieux J, ... ... Talkowski ME, et al. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. American Journal of Human Genetics. 96: 784-96. PMID 25937446 DOI: 10.1016/J.Ajhg.2015.04.002  0.43
2015 Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, ... ... Talkowski ME, et al. Loss of δ-catenin function in severe autism. Nature. 520: 51-6. PMID 25807484 DOI: 10.1038/Nature14186  0.4
2015 Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, et al. Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. Human Molecular Genetics. 24: 2442-57. PMID 25574027 DOI: 10.1093/Hmg/Ddv006  0.326
2015 Macera MJ, Sobrino A, Levy B, Jobanputra V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S, Pillalamarri V, Ordulu Z, Morton CC, Talkowski M, Warburton D. Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing. Prenatal Diagnosis. 35: 299-301. PMID 25043231 DOI: 10.1002/Pd.4456  0.393
2014 Mandal PK, Ferreira LM, Collins R, Meissner TB, Boutwell CL, Friesen M, Vrbanac V, Garrison BS, Stortchevoi A, Bryder D, Musunuru K, Brand H, Tager AM, Allen TM, Talkowski ME, et al. Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9. Cell Stem Cell. 15: 643-52. PMID 25517468 DOI: 10.1016/J.Stem.2014.10.004  0.316
2014 van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, ... ... Talkowski ME, et al. Genomic and functional overlap between somatic and germline chromosomal rearrangements. Cell Reports. 9: 2001-10. PMID 25497101 DOI: 10.1016/J.Celrep.2014.11.022  0.365
2014 Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, ... ... Talkowski ME, et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proceedings of the National Academy of Sciences of the United States of America. 111: E4468-77. PMID 25294932 DOI: 10.1073/Pnas.1405266111  0.411
2014 Brand H, Pillalamarri V, Collins RL, Eggert S, O'Dushlaine C, Braaten EB, Stone MR, Chambert K, Doty ND, Hanscom C, Rosenfeld JA, Ditmars H, Blais J, Mills R, Lee C, ... ... Talkowski ME, et al. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. American Journal of Human Genetics. 95: 454-61. PMID 25279985 DOI: 10.1016/J.Ajhg.2014.09.005  0.402
2014 Veres A, Gosis BS, Ding Q, Collins R, Ragavendran A, Brand H, Erdin S, Cowan CA, Talkowski ME, Musunuru K. Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing. Cell Stem Cell. 15: 27-30. PMID 24996167 DOI: 10.1016/J.Stem.2014.04.020  0.308
2014 Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. American Journal of Human Genetics. 94: 870-83. PMID 24906019 DOI: 10.1016/J.Ajhg.2014.05.004  0.421
2014 Hanscom C, Talkowski M. Design of large-insert jumping libraries for structural variant detection using Illumina sequencing. Current Protocols in Human Genetics. 80: 7.22.1-9. PMID 24789519 DOI: 10.1002/0471142905.Hg0722S80  0.332
2014 Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC. Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. American Journal of Human Genetics. 94: 695-709. PMID 24746958 DOI: 10.1016/J.Ajhg.2014.03.020  0.329
2014 Talkowski ME, Minikel EV, Gusella JF. Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. Harvard Review of Psychiatry. 22: 65-75. PMID 24614762 DOI: 10.1097/Hrp.0000000000000002  0.443
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, ... ... Talkowski ME, 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  0.404
2014 Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, ... Talkowski ME, et al. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. European Journal of Human Genetics : Ejhg. 22: 57-63. PMID 23632792 DOI: 10.1038/Ejhg.2013.67  0.4
2014 Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, ... ... Talkowski ME, et al. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Molecular Psychiatry. 19: 368-79. PMID 23587880 DOI: 10.1038/Mp.2013.42  0.447
2013 Currall BB, Chiang C, Talkowski ME, Morton CC. Mechanisms for Structural Variation in the Human Genome. Current Genetic Medicine Reports. 1: 81-90. PMID 23730541 DOI: 10.1007/S40142-013-0012-8  0.38
2013 Bahl S, Chiang C, Beauchamp RL, Neale BM, Daly MJ, Gusella JF, Talkowski ME, Ramesh V. Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Molecular Autism. 4: 5. PMID 23514105 DOI: 10.1186/2040-2392-4-5  0.421
2013 Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF. Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. American Journal of Human Genetics. 92: 375-86. PMID 23472757 DOI: 10.1016/J.Ajhg.2013.02.006  0.376
2013 Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, Chiang C, Ernst C, Pereira S, Ordulu Z, Clericuzio C, Drautz JM, Rosenfeld JA, Shaffer LG, Velsher L, Pynn T, et al. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Human Genetics. 132: 537-52. PMID 23354975 DOI: 10.1007/S00439-013-1263-X  0.359
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  0.404
2013 Ruderfer DM, Chambert K, Moran J, Talkowski M, Chen ES, Gigek C, Gusella JF, Blackwood DH, Corvin A, Gurling HM, Hultman CM, Kirov G, Magnusson P, O'Donovan MC, Owen MJ, et al. Mosaic copy number variation in schizophrenia. European Journal of Human Genetics : Ejhg. 21: 1007-11. PMID 23321615 DOI: 10.1038/Ejhg.2012.287  0.406
2013 Currall BB, Chiang C, Talkowski ME, Morton CC. Erratum to: Mechanisms for Structural Variation in the Human Genome Current Genetic Medicine Reports. 1: 201-201. DOI: 10.1007/S40142-013-0023-5  0.302
2012 Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, et al. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. American Journal of Human Genetics. 91: 1128-34. PMID 23217328 DOI: 10.1016/J.Ajhg.2012.10.016  0.368
2012 Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC. Clinical diagnosis by whole-genome sequencing of a prenatal sample. The New England Journal of Medicine. 367: 2226-32. PMID 23215558 DOI: 10.1056/Nejmoa1208594  0.367
2012 Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, ... ... Talkowski ME, et al. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Archives of General Psychiatry. 69: 1238-46. PMID 23044507 DOI: 10.1001/Archgenpsychiatry.2012.660  0.384
2012 Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, et al. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. American Journal of Human Genetics. 91: 56-72. PMID 22770980 DOI: 10.1016/J.Ajhg.2012.05.005  0.411
2012 Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature. 485: 363-7. PMID 22596160 DOI: 10.1038/Nature11091  0.419
2012 Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 149: 525-37. PMID 22521361 DOI: 10.1016/J.Cell.2012.03.028  0.479
2012 Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, ... ... Talkowski ME, et al. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nature Genetics. 44: 390-7, S1. PMID 22388000 DOI: 10.1038/Ng.2202  0.357
2012 Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Human Mutation. 33: 728-40. PMID 22290657 DOI: 10.1002/Humu.22037  0.385
2012 Yokley JL, Prasad KM, Chowdari KV, Talkowski ME, Wood J, Gur RC, Gur RE, Almasy L, Nimgaonkar VL, Pogue-Geile MF. Genetic associations between neuregulin-1 SNPs and neurocognitive function in multigenerational, multiplex schizophrenia families. Psychiatric Genetics. 22: 70-81. PMID 22183611 DOI: 10.1097/Ypg.0B013E32834F352C  0.58
2012 Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, et al. The cell adhesion gene PVRL3 is associated with congenital ocular defects. Human Genetics. 131: 235-50. PMID 21769484 DOI: 10.1007/S00439-011-1064-Z  0.344
2011 Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics. 89: 551-63. PMID 21981781 DOI: 10.1016/J.Ajhg.2011.09.011  0.413
2011 Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. American Journal of Human Genetics. 88: 469-81. PMID 21473983 DOI: 10.1016/J.Ajhg.2011.03.013  0.396
2011 Lener MS, Talkowski ME, Wood J, Chukwu WJ, Keshavan MS, Nimgaonkar VL, Prasad KM. Brain structural evidence of epistasis between RGS4 & COMT variations in schizophrenia F1000research. 2. DOI: 10.7490/F1000Research.1417.1  0.572
2010 Talkowski ME, McCann KL, Chen M, McClain L, Bamne M, Wood J, Chowdari KV, Watson A, Prasad KM, Kirov G, Georgieva L, Toncheva D, Mansour H, Lewis DA, Owen M, et al. Fine-mapping reveals novel alternative splicing of the dopamine transporter. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 1434-47. PMID 20957647 DOI: 10.1002/Ajmg.B.31125  0.626
2010 Prasad KM, Talkowski ME, Chowdari KV, McClain L, Yolken RH, Nimgaonkar VL. Candidate genes and their interactions with other genetic/environmental risk factors in the etiology of schizophrenia. Brain Research Bulletin. 83: 86-92. PMID 19729054 DOI: 10.1016/J.Brainresbull.2009.08.023  0.565
2010 Prasad KM, Almasy L, Gur RC, Gur RE, Pogue-Geile M, Chowdari KV, Talkowski ME, Nimgaonkar VL. RGS4 polymorphisms associated with variability of cognitive performance in a family-based schizophrenia sample. Schizophrenia Bulletin. 36: 983-90. PMID 19282471 DOI: 10.1093/Schbul/Sbp002  0.576
2010 Bamne MN, Talkowski ME, Chowdari KV, Nimgaonkar VL. Functional analysis of upstream common polymorphisms of the dopamine transporter gene. Schizophrenia Bulletin. 36: 977-82. PMID 19273584 DOI: 10.1093/Schbul/Sbp005  0.587
2009 Mansour HA, Talkowski ME, Wood J, Chowdari KV, McClain L, Prasad K, Montrose D, Fagiolini A, Friedman ES, Allen MH, Bowden CL, Calabrese J, El-Mallakh RS, Escamilla M, Faraone SV, et al. Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. Bipolar Disorders. 11: 701-10. PMID 19839995 DOI: 10.1111/J.1399-5618.2009.00756.X  0.623
2009 Mansour H, Klei L, Wood J, Talkowski M, Chowdari K, Fathi W, Eissa A, Yassin A, Salah H, Tobar S, El-Boraie H, Gaafar H, Elassy M, Ibrahim NE, El-Bahaei W, et al. Consanguinity associated with increased risk for bipolar I disorder in Egypt. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 879-85. PMID 19152378 DOI: 10.1002/Ajmg.B.30913  0.52
2009 Talkowski ME, McClain L, Allen T, Bradford LD, Calkins M, Edwards N, Georgieva L, Go R, Gur R, Gur R, Kirov G, Chowdari K, Kwentus J, Lyons P, Mansour H, et al. Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 560-9. PMID 18937293 DOI: 10.1002/Ajmg.B.30862  0.591
2008 Talkowski ME, Kirov G, Bamne M, Georgieva L, Torres G, Mansour H, Chowdari KV, Milanova V, Wood J, McClain L, Prasad K, Shirts B, Zhang J, O'Donovan MC, Owen MJ, et al. A network of dopaminergic gene variations implicated as risk factors for schizophrenia. Human Molecular Genetics. 17: 747-58. PMID 18045777 DOI: 10.1093/Hmg/Ddm347  0.692
2008 Bamne MN, Talkowski ME, Moraes CT, Manuck SB, Ferrell RE, Chowdari KV, Nimgaonkar VL. Systematic association studies of mitochondrial DNA variations in schizophrenia: focus on the ND5 gene. Schizophrenia Bulletin. 34: 458-65. PMID 17898419 DOI: 10.1093/Schbul/Sbm100  0.581
2008 Chowdari KV, Bamne M, Wood J, Talkowski ME, Mirnics K, Levitt P, Lewis DA, Nimgaonkar VL. Linkage disequilibrium patterns and functional analysis of RGS4 polymorphisms in relation to schizophrenia. Schizophrenia Bulletin. 34: 118-26. PMID 17515439 DOI: 10.1093/Schbul/Sbm042  0.61
2008 Talkowski ME, Devlin B, Nimgaonkar VL, Mansour H, Chowdari KV, Wood J. Reply Biological Psychiatry. 63: e23-e25. DOI: 10.1016/j.biopsych.2007.10.021  0.339
2007 Talkowski ME, Bamne M, Mansour H, Nimgaonkar VL. Dopamine genes and schizophrenia: case closed or evidence pending? Schizophrenia Bulletin. 33: 1071-81. PMID 17630406 DOI: 10.1093/Schbul/Sbm076  0.604
2006 Talkowski ME, Mansour H, Chowdari KV, Wood J, Butler A, Varma PG, Prasad S, Semwal P, Bhatia T, Deshpande S, Devlin B, Thelma BK, Nimgaonkar VL. Novel, Replicated Associations Between Dopamine D3 Receptor Gene Polymorphisms and Schizophrenia in Two Independent Samples Biological Psychiatry. 60: 570-577. PMID 16893532 DOI: 10.1016/J.Biopsych.2006.04.012  0.586
2006 Talkowski ME, Seltman H, Bassett AS, Brzustowicz LM, Chen X, Chowdari KV, Collier DA, Cordeiro Q, Corvin AP, Deshpande SN, Egan MF, Gill M, Kendler KS, Kirov G, Heston LL, et al. Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples. Biological Psychiatry. 60: 152-62. PMID 16631129 DOI: 10.1016/J.Biopsych.2006.02.015  0.618
2006 Shirts BH, Bamne M, Kim JJ, Talkowski M, Wood J, Yolken R, Nimgaonkar VL. A comprehensive genetic association and functional study of TNF in schizophrenia risk. Schizophrenia Research. 83: 7-13. PMID 16503400 DOI: 10.1016/J.Schres.2005.12.853  0.71
2006 Talkowski ME, Chowdari K, Lewis DA, Nimgaonkar VL. Can RGS4 polymorphisms be viewed as credible risk factors for schizophrenia? A critical review of the evidence. Schizophrenia Bulletin. 32: 203-8. PMID 16469939 DOI: 10.1093/Schbul/Sbj058  0.621
2005 Mansour HA, Talkowski ME, Wood J, Pless L, Bamne M, Chowdari KV, Allen M, Bowden CL, Calabrese J, El-Mallakh RS, Fagiolini A, Faraone SV, Fossey MD, Friedman ES, Gyulai L, et al. Serotonin gene polymorphisms and bipolar I disorder: focus on the serotonin transporter. Annals of Medicine. 37: 590-602. PMID 16338761 DOI: 10.1080/07853890500357428  0.6
2005 Cordeiro Q, Talkowski ME, Chowdari KV, Wood J, Nimgaonkar V, Vallada H. Association and linkage analysis of RGS4 polymorphisms with schizophrenia and bipolar disorder in Brazil Genes, Brain and Behavior. 4: 45-50. PMID 15660667 DOI: 10.1111/J.1601-183X.2004.00096.X  0.607
2005 Prasad KM, Chowdari KV, Nimgaonkar VL, Talkowski ME, Lewis DA, Keshavan MS. Genetic polymorphisms of the RGS4 and dorsolateral prefrontal cortex morphometry among first episode schizophrenia patients. Molecular Psychiatry. 10: 213-9. PMID 15381923 DOI: 10.1038/Sj.Mp.4001562  0.568
2004 Cordeiro Q, Talkowski M, Wood J, Ikenaga E, Vallada H. Lack of association between VNTR polymorphism of dopamine transporter gene (SLC6A3) and schizophrenia in a Brazilian sample. Arquivos De Neuro-Psiquiatria. 62: 973-6. PMID 15608954 DOI: 10.1590/S0004-282X2004000600008  0.416
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