Year |
Citation |
Score |
2021 |
Victor AK, Donaldson M, Johnson D, Miller W, Reiter LT. Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility. Frontiers in Molecular Neuroscience. 14: 747855. PMID 34776864 DOI: 10.3389/fnmol.2021.747855 |
0.313 |
|
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, ... ... Reiter LT, 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 |
0.423 |
|
2020 |
Saravanapandian V, Frohlich J, Hipp JF, Hyde C, Scheffler AW, Golshani P, Cook EH, Reiter LT, Senturk D, Jeste SS. Properties of beta oscillations in Dup15q syndrome. Journal of Neurodevelopmental Disorders. 12: 22. PMID 32791992 DOI: 10.1186/S11689-020-09326-1 |
0.358 |
|
2020 |
Roy B, Han J, Hope KA, Peters TL, Palmer G, Reiter LT. An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HT and Dopamine Pathway Activation as Potential Therapies. Biological Psychiatry. PMID 32507391 DOI: 10.1016/J.Biopsych.2020.03.021 |
0.723 |
|
2020 |
Hope KA, Johnson D, Miller PW, Lopez-Ferrer D, Kakhniashvili D, Reiter LT. Transcriptomic and proteomic profiling of glial versus neuronal Dube3a overexpression reveals common molecular changes in gliopathic epilepsies. Neurobiology of Disease. 104879. PMID 32344153 DOI: 10.1016/J.Nbd.2020.104879 |
0.754 |
|
2019 |
DiStefano C, Wilson RB, Hyde C, Cook EH, Thibert RL, Reiter LT, Vogel-Farley V, Hipp J, Jeste S. Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials. American Journal of Medical Genetics. Part A. PMID 31654560 DOI: 10.1002/Ajmg.A.61385 |
0.328 |
|
2019 |
Hope KA, Flatten D, Cavitch P, May B, Sutcliffe JS, O'Donnell J, Reiter LT. The Drosophila Gene Modulates Autism-Like Behaviors. Frontiers in Genetics. 10: 574. PMID 31316544 DOI: 10.3389/Fgene.2019.00574 |
0.753 |
|
2019 |
Frohlich J, Reiter LT, Saravanapandian V, DiStefano C, Huberty S, Hyde C, Chamberlain S, Bearden CE, Golshani P, Irimia A, Olsen RW, Hipp JF, Jeste SS. Mechanisms underlying the EEG biomarker in Dup15q syndrome. Molecular Autism. 10: 29. PMID 31312421 DOI: 10.1186/S13229-019-0280-6 |
0.396 |
|
2019 |
Hope KA, McGinn A, Reiter LT. A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster. Scientific Reports. 9: 2382. PMID 30787400 DOI: 10.1038/S41598-019-38663-Y |
0.744 |
|
2018 |
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, et al. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human Molecular Genetics. PMID 29447355 DOI: 10.1093/hmg/ddy049 |
0.674 |
|
2018 |
Urraca N, Hope K, Victor AK, Belgard TG, Memon R, Goorha S, Valdez C, Tran QT, Sanchez S, Ramirez J, Donaldson M, Bridges D, Reiter LT. Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons. Molecular Autism. 9: 6. PMID 29423132 DOI: 10.1186/S13229-018-0191-Y |
0.742 |
|
2018 |
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Harper F, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, et al. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human Molecular Genetics. PMID 29300972 DOI: 10.1093/Hmg/Ddx435 |
0.726 |
|
2017 |
Ajayi OJ, Smith EJ, Viangteeravat T, Huang EY, Nagisetty NSVR, Urraca N, Lusk L, Finucane B, Arkilo D, Young J, Jeste S, Thibert R, Reiter LT. Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses. Jmir Research Protocols. 6: e194. PMID 29046268 DOI: 10.2196/Resprot.7989 |
0.346 |
|
2017 |
Copping NA, Christian SGB, Ritter DJ, Islam MS, Buscher N, Zolkowska D, Pride MC, Berg EL, LaSalle JM, Ellegood J, Lerch JP, Reiter LT, Silverman JL, Dindot SV. Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome. Human Molecular Genetics. 26: 3995-4010. PMID 29016856 DOI: 10.1093/Hmg/Ddx289 |
0.475 |
|
2017 |
Hope KA, LeDoux MS, Reiter LT. Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na(+)/K(+) pump ATPα. Neurobiology of Disease. PMID 28888970 DOI: 10.1016/J.Nbd.2017.09.003 |
0.738 |
|
2017 |
Kaitlyn Victor A, Reiter LT. Dental Pulp Stem Cells for the study of Neurogenetic Disorders. Human Molecular Genetics. PMID 28582499 DOI: 10.1093/Hmg/Ddx208 |
0.326 |
|
2017 |
Chow CY, Reiter LT. Etiology of Human Genetic Disease on the Fly. Trends in Genetics : Tig. PMID 28420493 DOI: 10.1016/J.Tig.2017.03.007 |
0.381 |
|
2017 |
Goorha S, Reiter LT. Culturing and Neuronal Differentiation of Human Dental Pulp Stem Cells. Current Protocols in Human Genetics. 92: 21.6.1-21.6.10. PMID 28075485 DOI: 10.1002/Cphg.28 |
0.347 |
|
2016 |
Dunaway K, Goorha S, Matelski L, Urraca N, Lein PJ, Korf I, Reiter LT, LaSalle JM. Dental Pulp Stem Cells Model Early Life and Imprinted DNA Methylation Patterns. Stem Cells (Dayton, Ohio). PMID 28032673 DOI: 10.1002/Stem.2563 |
0.34 |
|
2016 |
Frohlich J, Senturk D, Saravanapandian V, Golshani P, Reiter LT, Sankar R, Thibert RL, DiStefano C, Huberty S, Cook EH, Jeste SS. A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome. Plos One. 11: e0167179. PMID 27977700 DOI: 10.1371/Journal.Pone.0167179 |
0.323 |
|
2016 |
Urraca N, Potter B, Hundley R, Pivnick EK, McVicar K, Thibert RL, Ledbetter C, Chamberlain R, Miravalle L, Sirois CL, Chamberlain S, Reiter LT. A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism. Frontiers in Genetics. 7: 205. PMID 27933089 DOI: 10.3389/Fgene.2016.00205 |
0.332 |
|
2016 |
Hope KA, LeDoux MS, Reiter LT. The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons. Epigenetics. 1-6. PMID 27599063 DOI: 10.1080/15592294.2016.1214783 |
0.724 |
|
2016 |
DiStefano C, Gulsrud A, Huberty S, Kasari C, Cook E, Reiter LT, Thibert R, Jeste SS. Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome. Journal of Neurodevelopmental Disorders. 8: 19. PMID 27158270 DOI: 10.1186/S11689-016-9152-Y |
0.367 |
|
2016 |
Ikbale el-A, Goorha S, Reiter LT, Miranda-Carboni GA. Effects of hTERT immortalization on osteogenic and adipogenic differentiation of dental pulp stem cells. Data in Brief. 6: 696-9. PMID 26958627 DOI: 10.1016/J.Dib.2016.01.009 |
0.331 |
|
2015 |
Urraca N, Memon R, El-Iyachi I, Goorha S, Valdez C, Tran QT, Scroggs R, Miranda-Carboni GA, Donaldson M, Bridges D, Reiter LT. Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders. Stem Cell Research. 15: 722-30. PMID 26599327 DOI: 10.1016/J.Scr.2015.11.004 |
0.405 |
|
2015 |
LaSalle JM, Reiter LT, Chamberlain SJ. Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders. Epigenomics. PMID 26585570 DOI: 10.2217/Epi.15.70 |
0.407 |
|
2015 |
Wilson R, Urraca N, Skobowiat C, Hope KA, Miravalle L, Chamberlin R, Donaldson M, Seagroves TN, Reiter LT. Assessment of the Tumorigenic Potential of Spontaneous and hTERT-Imortalized Cultured Dental Pulp Stem Cells. Stem Cells Translational Medicine. PMID 26032749 DOI: 10.5966/Sctm.2014-0196 |
0.707 |
|
2015 |
Valdez C, Scroggs R, Chassen R, Reiter LT. Variation in Dube3a expression affects neurotransmission at the Drosophila neuromuscular junction. Biology Open. 4: 776-82. PMID 25948754 DOI: 10.1242/Bio.20148045 |
0.359 |
|
2014 |
Germain ND, Chen PF, Plocik AM, Glatt-Deeley H, Brown J, Fink JJ, Bolduc KA, Robinson TM, Levine ES, Reiter LT, Graveley BR, Lalande M, Chamberlain SJ. Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1. Molecular Autism. 5: 44. PMID 25694803 DOI: 10.1186/2040-2392-5-44 |
0.44 |
|
2014 |
Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C, Devinsky O, Cook EH, LaSalle J, Reiter LT, et al. A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 55: 396-402. PMID 24502430 DOI: 10.1111/Epi.12530 |
0.324 |
|
2013 |
Jensen L, Farook MF, Reiter LT. Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis. Plos One. 8: e61952. PMID 23626758 DOI: 10.1371/Journal.Pone.0061952 |
0.359 |
|
2013 |
Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. Autism Research : Official Journal of the International Society For Autism Research. 6: 268-79. PMID 23495136 DOI: 10.1002/Aur.1284 |
0.394 |
|
2012 |
Farook MF, DeCuypere M, Hyland K, Takumi T, LeDoux MS, Reiter LT. Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models. Plos One. 7: e43030. PMID 22916201 DOI: 10.1371/Journal.Pone.0043030 |
0.348 |
|
2011 |
Scoles HA, Urraca N, Chadwick SW, Reiter LT, Lasalle JM. Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples. Molecular Autism. 2: 19. PMID 22152151 DOI: 10.1186/2040-2392-2-19 |
0.373 |
|
2011 |
Wangler MF, Reiter LT, Zimm G, Trimble-Morgan J, Wu J, Bier E. Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila. Protein & Cell. 2: 554-63. PMID 21822800 DOI: 10.1007/S13238-011-1073-7 |
0.578 |
|
2011 |
Allensworth M, Saha A, Reiter LT, Heck DH. Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome. Bmc Genetics. 12: 7. PMID 21235769 DOI: 10.1186/1471-2156-12-7 |
0.335 |
|
2011 |
Ferdousy F, Bodeen W, Summers K, Doherty O, Wright O, Elsisi N, Hilliard G, O'Donnell JM, Reiter LT. Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism. Neurobiology of Disease. 41: 669-77. PMID 21147225 DOI: 10.1016/J.Nbd.2010.12.001 |
0.602 |
|
2010 |
Urraca N, Davis L, Cook EH, Schanen NC, Reiter LT. A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications. Genetic Testing and Molecular Biomarkers. 14: 571-6. PMID 20642357 DOI: 10.1089/Gtmb.2010.0030 |
0.311 |
|
2010 |
Doronkin S, Djagaeva I, Nagle ME, Reiter LT, Seagroves TN. Dose-dependent modulation of HIF-1alpha/sima controls the rate of cell migration and invasion in Drosophila ovary border cells. Oncogene. 29: 1123-34. PMID 19966858 DOI: 10.1038/Onc.2009.407 |
0.301 |
|
2008 |
Doronkin S, Reiter LT. Drosophila orthologues to human disease genes: an update on progress. Progress in Nucleic Acid Research and Molecular Biology. 82: 1-32. PMID 18929137 DOI: 10.1016/S0079-6603(08)00001-9 |
0.413 |
|
2008 |
Pfleger CM, Reiter LT. Recent efforts to model human diseases in vivo in Drosophila. Fly. 2: 129-32. PMID 18820469 DOI: 10.4161/Fly.6332 |
0.375 |
|
2008 |
Heck DH, Zhao Y, Roy S, LeDoux MS, Reiter LT. Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors. Human Molecular Genetics. 17: 2181-9. PMID 18413322 DOI: 10.1093/Hmg/Ddn117 |
0.326 |
|
2007 |
Reiter LT, Do LH, Fischer MS, Hong NA, Bier E. Accentuate the negative: proteome comparisons using the negative proteome database. Fly. 1: 164-71. PMID 18820470 DOI: 10.4161/Fly.4717 |
0.73 |
|
2006 |
Reiter LT, Seagroves TN, Bowers M, Bier E. Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase. Human Molecular Genetics. 15: 2825-35. PMID 16905559 DOI: 10.1093/Hmg/Ddl225 |
0.644 |
|
2002 |
Reiter LT, Bier E. Using Drosophila melanogaster to uncover human disease gene function and potential drug target proteins. Expert Opinion On Therapeutic Targets. 6: 387-99. PMID 12223075 DOI: 10.1517/14728222.6.3.387 |
0.604 |
|
2002 |
Chien S, Reiter LT, Bier E, Gribskov M. Homophila: human disease gene cognates in Drosophila. Nucleic Acids Research. 30: 149-51. PMID 11752278 DOI: 10.1093/Nar/30.1.149 |
0.605 |
|
2001 |
Reiter LT, Potocki L, Chien S, Gribskov M, Bier E. A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster. Genome Research. 11: 1114-25. PMID 11381037 DOI: 10.1101/Gr.169101 |
0.611 |
|
2001 |
Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Research. 11: 1018-33. PMID 11381029 DOI: 10.1101/Gr.180401 |
0.507 |
|
2001 |
Liehr T, Reiter LT, Lupski JR, Murakami T, Claussen U, Rautenstrauss B. Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 12: 326-8. PMID 11309667 DOI: 10.1007/S003350010276 |
0.429 |
|
1999 |
Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR. Molecular Mechanisms for CMT1A Duplication and HNPP Deletion. Annals of the New York Academy of Sciences. 883: 22-35. PMID 29086952 DOI: 10.1111/J.1749-6632.1999.Tb08563.X |
0.469 |
|
1999 |
Reiter LT, Liehr T, Rautenstrauss B, Robertson HM, Lupski JR. Localization of mariner DNA transposons in the human genome by PRINS. Genome Research. 9: 839-43. PMID 10508842 DOI: 10.1101/Gr.9.9.839 |
0.471 |
|
1998 |
Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. American Journal of Human Genetics. 62: 1023-33. PMID 9545397 DOI: 10.1086/301827 |
0.487 |
|
1998 |
Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Human Molecular Genetics. 6: 1595-603. PMID 9285799 DOI: 10.1093/Hmg/6.9.1595 |
0.5 |
|
1997 |
Murakami T, Reiter LT, Lupski JR. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics. 42: 161-4. PMID 9177788 DOI: 10.1006/Geno.1997.4711 |
0.527 |
|
1997 |
Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent Journal of Medical Genetics. 34: 43-49. PMID 9032649 DOI: 10.1136/Jmg.34.1.43 |
0.457 |
|
1996 |
Murakami T, Garcia CA, Reiter LT, Lupski JR. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine. 75: 233-50. PMID 8862346 DOI: 10.1097/00005792-199609000-00001 |
0.556 |
|
1996 |
Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genetics. 12: 288-97. PMID 8589720 DOI: 10.1038/Ng0396-288 |
0.448 |
|
1996 |
Warner LE, Reiter LT, Murakami T, Lupski JR. Molecular Mechanisms For Charcot-Marie-Tooth Disease And Related Demyelinating Peripheral Neuropathies Cold Spring Harbor Symposia On Quantitative Biology. 61: 659-671. DOI: 10.1101/Sqb.1996.061.01.066 |
0.391 |
|
1996 |
Reiter LT, Murakami T, Warner LE, Lupski JR. DNA rearrangements affecting dosage sensitive genes Mental Retardation and Developmental Disabilities Research Reviews. 2: 139-146. DOI: 10.1002/(Sici)1098-2779(1996)2:3<139::Aid-Mrdd4>3.0.Co;2-N |
0.556 |
|
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