Michael E. Talkowski, Ph.D. - Publications

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

50 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, 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
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  0.76
2016 Mukherjee K, Ishii K, Pillalamarri V, Kammin T, Atkin JF, Hickey SE, Xi QJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, Liao EC. Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis. Human Molecular Genetics. PMID 26758871 DOI: 10.1093/hmg/ddw006  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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: 170-176. DOI: 10.1016/j.ajhg.2015.05.012  0.76
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, Witwicki R, Didelot G, Van Der Werf I, ... ... 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: 784-796. DOI: 10.1016/j.ajhg.2015.04.002  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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