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Intellectual and Developmental Disabilities Research Center

Houston, Texas

Intellectual and Developmental Disabilities Research Center
Intellectual and Developmental Disabilities Research Center
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2010 Publications

  1. Andreu-Vieyra CV, Chen R, Agno JE, Glaser S, Anastassiadis K, Stewart AF and Matzuk MM. MLL2 is required in oocytes for bulk histone 3 lysine 4 trimethylation and transcription silencing. PLos Biol Aug 2010, 8:e1000453. PMCID: PMC2923083.
  2. Antonellis A, Dennis MY, Grzegorz B, Huynh J, Maduro V,……Lupski JR and Green ED. A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. PLoS One Dec 2010, 5:e14346. PMCID: PMC3002941.
  3. Ballester-Rosado CJ, Albright MJ, Wu CS, Liao C-C, Zhu J, Chou S-J, O'Leary D, Lee L-J and Lu H-C. mGluR5 in cortical excitatory neurons exerts both cell autonomous and nonautonomous influences on cortical somatosensory circuit formation. J Neurosci Dec 2010, 30:16896-909.
  4. Bellen HJ, Tong C and Tsuda H. 100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future. Nat Rev Neurosci July 2010, 11:514-22. PMID: 20383202.
  5. Bland CS, Wang ET, Vu A, David P, Castle JC, Johnson JM, Burge CB and Cooper TA. Global regulation of alternatiave splicing during myogenic differentiation. Nucleic Acids Res Nov 2010, 38:7651-64. PMCID: PMC2995044.
  6. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, and Stankiewicz P. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat Dec 2010, 31:1326-1342. PMID: 20848651.
  7. Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM and Belmont JW. FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med Genet A. Feb 2010, 152A:413-6. PMID: 20082464.
  8. Buchold GM, Coarfa C, Kim J, Milosavljevic A, Gunaratne PH and Matzuk MM. Analysis of microRNA expression in the prepubertal testis. PLoS One Dec 2010, 5:e15317. PMCID: PMC3012074.
  9. Chang KJ, Susuki K, Dours-Zimmermann MT, Zimmermann DR and Rasband MN. Oligodendrocyte myelin glycoprotein does not influence nod of ranvier structure or assembly. J Neurosci Oct 2010, 30:14476-31. PMCID: PMC2976578.
  10. De Biasi M and Dani J. Reward Addiction, Withdrawal to Nicotine. Annu Rev Neurosci Jul 2010, [Epub ahead of print]. PMID: 21438686.
  11. Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A Mar 2010, 152A:573-581. PMID: 20186804
  12. Duvick L, Barnes J, Ebner B, Agrawal S, Andresen M, Lim J, Giesler GJ, Zoghbi HY, and Orr HT. 2010. SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron Sept 2010, 68:16573. PMCID: PMC2946945.
  13. Edson MA, Nalam RL, Clementi C, Franco HL, Demayo FJ, Lyons KM, Pangas SA and Matzuk MM. Granulosa cell-expressed BMPR1A and BMPR1B have unique functions in regulating fertility but act redundantly to suppress ovarian tumor development. Mol Endocrinol June 2010, 24:1251-66. PMCID: PMC2875809.
  14. Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB and Fang P. PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers Oct 2010, 14:709-13. PMID: 20854095.
  15. Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Beaudet-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU: A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr Sept 2010, 31:592-601. PMCID: PMC2997715.
  16. Gonzaga-Jauregui C, Zhang F, Towne CF, Batish SD and Lupski JR. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Neurogenetics Oct 2010, 11:465-70. PMID: 20532933.
  17. Hawkins SM and Matzuk MM. Oocyte-somatic cell communication and microRNA function in the ovary. Ann endocrinol (Paris) May 2010, 71:1414-8. PMCID: PMC2917249.
  18. Ho TS and Rasband MN. Maintenance of neuronal polarity. Dev Neurobiol Dec 2010. [Epub ahead of print]. PMID: 21557501.
  19. Huichalaf C, Sakai K, Jin B, Jin B, Jones K, Wang G-L, Schoser B, Schneider-Gold C, Sarkar P, Olivia Pereira-Smith OM, Timchenko N, Timchenko L. 2010. Expansion of CUG RNA repeats causes stress and inhibition of translation in Myotonic Dystrophy 1 cells. FASEB J Oct 2010, 24: 3706-3719. PMCID: PMC2996918
  20. Hwang K, Yatsenko AN, Jorgez CJ, Mukherjee S, Nalam RL, Matzuk MM and Lamb DJ. Mendelian Genetics of male infertility. Ann NY Acad Sci Dec 2010, 1214:E1-E17. PMID: 21382200.
  21. Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, and Beaudet AL Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS One Aug 2010, 5:e12278. PMCID: PMC2924885.
  22. Justice MJ and Hirschi KK. The role of quaking in mammalian embryonic development. Adv Exp Med Biol 2010, 693:82-92. PMID: 21189687.
  23. Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabasi A-L, and Zoghbi HY. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Molec Genet Feb 2010 468:263-9. PMCID: PMC3016911.
  24. Keliris GA, Logothetis NK and Tolias AS. The role of the primary visual cortex in perceptual suppression of salient visual stimuli. J. of Neurosci Sep 2010, 30:12353-65.PMCID: PMC2962415.
  25. Kalsotra A, Wang K, Li PF and Cooper TA. MicroRNAs coordinate an alternative splicing network during mouse postnatal heart development. Genes Dev Apr 2010 24:653-8. PMCID: PMC2849122.
  26. Koshy S, Alizadeh P, Timchenko LT and Beeton C. Quantitative measurement of GLUT4 translocation to the plasma membrane by flow cytometry. J Vis Exp Nov 2010. 45: PMID: 21085106.
  27. Lazarou M, Stojanovski D, Frazier AE, Kotevski A, Dewson G, Craigen WJ, Kluck RM, Vaux DL and Ryan MT. Inhibition of BAK activation by VDAC2 is dependent on the BAK transmembrane anchor. J Biol Chem Nov 2010,285:36876-83. PMCID: PMC2978617.
  28. Lee S-J, Lee Y-S, Zimmers TA, Soleimani A, Matzuk MM, Tsuchida K, Cohn RD and Barton ER. Regulation of muscle mass by follistatin and activins. Mol Endocrinol Oct 2010, 24:1998-2008. PMCID: PMC2954636.
  29. Li H, Wang B, Wang Z, Guo Q, Tabuchi K, Hammer RE, Südhof TC, Zheng H. Soluble amyloid precursor protein (APP) regulates transthyretin and Klotho gene expression without rescuing the essential function of APP. Proc Natl Acad Sci USA Oct 2010, 107:17362-7. PMCID: PMC2951422.
  30. Lupski JR. Retrotransposition and structural variation in the human genome. Cell 141:110-2. PMID: 20602993. Commentaries in Cell Jun 2010, 141:1253-61;1159-70; and 1171-82.
  31. Lupski JR. Interruption of SOX10 function in myelinopathies. Ann Neurol Aug 2010, 68:121-3. PMID: 20695004.
  32. Lupski JR. New mutations and intellectual function. Nat Genet Dec 2010, 42:1109-12.
  33. McLaughlin HM, Sakaguchi R, Liu C,……Lupski JR, Hou YM, Green ED and Antonellis A. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet Oct 2010, 87:560-6. PMCID: PMC2948804.
  34. Mendoza-Fandino G, Gee J, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers R, Leal S, Allayee H and Patel P. A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia. Clin Genet Aug 2010, [Epub ahead of print]. PMID: 21443745.
  35. Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschiesel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A and Cheung SW. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet Mar 2010, 19:280-6. PMCID: PMC3061988.
  36. Nagaraja AK, Middlebrook BS, Rajanahally S, Myers M, Li Q, Matzuk MM and Pangas SA. Defective gonadotropin-dependent ovarian folliculogenesis and granulosa cell gene expression in inhibin-deficient mice. Endocrinology Oct 2010, 151:4994-5006. PMCID: PMC2946151.
  37. Nalam RL and Matzuk MM. Local signaling environments and human male infertility; what we can learn from mouse models. Expert Rev Mol Med May 2010, 12:e15. PMCID: PMC3056269.
  38. Nalam RL, Andreau-Vieyra C and Matzuk MM. Absence of inhibin alpha and retinoblastoma protein leads to early sertoli cell dysfunction. PLoS One Jul 2010, 5:e11797. MCID: PMC2910728.
  39. Neely GG, Hess A, Costigan M, Keene AC, Goulas S, Langeslag M, Griffin RS, Belfer I, Dai F, Smith SB, Diatchenko L, Gupta V, Xia CP, Amann S, Kreitz S, Heindl-Erdmann C, Wolz S, Ly CV, Arora S, Sarangi R, Dan D, Novatchkova M, Rosenzweig m, Gibson DG, Truong D, Schramek D, Zoranovic T, Cronin SJ, Angjeli B, Brune K, Dietzl G, Maixner W, Meixner A, Thomas W, Pospisilik JA, Alenius M, Kress M, Subramaniam S, Garrity PA, Bellen HJ, Woolf CJ and Penninger JM. A genome-wide Drosophila screen for heat nociception identifies α2δ3 as an evolutionarily conserved pain gene. Cell Nov 2010, 143:628-38. PMCID: PMC3040441.
  40. Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P and Percy AK. RettSearch Consortium. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol Dec 2010, 68:944-50. PMCID: PMC3058521.
  41. Peebles CL, Yoo J, Thwin MT, Palop JJ, Noebels JL, Finkbeiner S. Arc regulates spine morphology and maintains network stability in vivo. Proc Natl Acad Sci USA Oct 2010, 107:18173-8. PMCID: PMC2964216.
  42. Peethumnongsin E, Yang L, Kallhoff-Muñoz V, Hu L, Takashima A, Pautler RG and Zheng H. Convergence of presenilin- and tau-mediated pathways on axonal trafficking and neuronal function. J Neurosci Oct 2010 30:13409-13418.
  43. Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J and Barnes K. Rett syndrome diagnostic criteria: lessons from the Natural History Study. Ann Neurol Dec 2010, 68:951-5. PMCID: PMC3021984.
  44. Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J,McNair L, Motil KJ, Barrish JO and Glaze DG. Profiling scoliosis in Rett syndrome. Pediatr Re. Apr 2010, 67:435-9. PMCID: PMC2852102.
  45. Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Elge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O’Brien WE, Beaudet AL and Bacino CA. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A Aug 2010, 152A:1994-2001. PMID: 20635355.
  46. Prakash SK, Lemaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Mielewicz DM and Belmont JW. Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet Dec 2010, 87:743-56. PMCID: PMC2997376.
  47. Prakash S, Lemaire SA, Bray M, Milewicz DM and Belmont JW. Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections. Am J Med Genet A Sep 2010, 152A:2399-405. PMID: 20683997.
  48. Probst FJ and Justice MJ. Mouse mutagenesis with the chemical supermutagen ENU. Methods Enzymol 2010, 477:297-312. PMID: 20699147.
  49. Rajanahally S, Agno JE, Nalam RL, Weinstein MB, Loveland KL, Matzuk MM and Li Q. Genetic evidence that SMAD2 is not required for gonadal tumor development in inhibin-deficient mice. Reprod Biol Endocrinol June 2010, 21:8-69. PMCID: PMC2903601.
  50. Rasband MN. The axon initial segment and the maintenance of neuronal polarity. Nat Rev Neurosci Aug 2010, 11:552-62. PMID: 20631711.
  51. Rasband MN. Clustered K+ channel complexes in axons. Neurosci Lett Dec 2010, 486:101-6. PMCID. PMC2990350.
  52. Sadikovic B, Wang J, El-Hattab A, Landsverk M, Doublas G, Brundage EK, Craigen WJ, Schmitt ES and Wong LJ. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLos One Dec 2010, 4:e15687. PMCID: PMC3004954.
  53. Salas R, Baldwn P, de Biasi M and Montague PR. Bold responses to negative reward prediction errors in human habenula. Front Hum Neurosci May 2010, 4:36. PMCID: PMC2872503.
  54. Sanchez-Valle A, Wang X, Potocki L, Xia Z, Kang SH, Carlin ME, et al. HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. Am J Med Genet A Nov 2010, 152A:2854-60. PMID: 20979191.
  55. Schoser B and Timchenko L. Mytonic dystropies 1 and 2: complex disease with complex mechanisms. Curr Genomics Apr 2010, 11:77-90. PMCID: PMC2874224.
  56. Shinawi M, Lui P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozei BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Alllison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW and Lupski JR. Recurrent reciprocal 16q11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet May 2010, 47:332-341. PMID:19914906.
  57. Schneider-Gold C and Timchencko LT. CCUG repeats reduce the rate of global protein synthesis in myotonic dystrophy type 2. Rev Neurosci 2010, 21:19-28. PMID: 20458885.
  58. Shchelochkov OA, Cheung S-W and Lupski JR. Genomic and clinical characterization of microduplications in chromosome 17. Am J Med Genet May 2010,152A:1101-1110. PMID: 20425816.
  59. Sierra A, Encinas JM, Deudero JJ, Chancey JH, Enikolopov G, Overstreet-Wadiche LS, Tsirka SE, Maletic-Savatic M. Microglia shape adult hippocampal neurogenesis through apoptosis-coupled phagocytosis. Cell Stem Cell Oct 2010, 7:483-95. PMID: 20887954.
  60. Swann JW and Moshe SL. On the basic mechanisms of infantile spasms. Epilepsia 51 (Suppl.5): 27, 2010.
  61. Swann JW and Moshe SL. On the Basic Mechanisms of Infantile Spasms. Jasper’s Basic Mechanisms of the Epilepsies, Fourth Edition. Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV. Eds. In press.
  62. Su YQ, Sugiura K, Li Q, Wigglesworth K, Matzuk MM and Eppig JJ. Mouse oocytes enable LH-induced maturation of the cumulus-oocyte complex via promoting EGF receptor-dependent signaling. Mol Endocrinol June 2010, 24:1230-9. PMCID: PMC2875810.
  63. Sugiura K, Su Y-Q, Li Q, Wigglesworth K, Matzuk MM and Eppig JJ. Estrogen promoes the development of mouse cumulus cells in coordination with oocye-derived GDF9 and BMP15. Mol Endocrinol Dec 2010, 24:2303-14. PMCID: PMC2999473.
  64. Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewski J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL and Stankiewicz P. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat July 2010, 31:840-850. PMID: 20506139.
  65. Tao J, Chen S, Yang T, Dawson B, Munivez E, Bertin T, and B. Lee. Osteosclerosis due to Notch gain of function is solely Rbpj-dependent. Journal of Bone Mineral Research Oct 2010, 25:2175-83. PMID: 20499347.
  66. Tolias, K.F and Um, K. Autism-associated protein Epac2 promotes Rap-dependent excitatory synapse remodeling and depression. Cell Science 2010, 6(3): 41-48.
  67. Venken KJ, Popodi E, Holtzman SL, Schulze KL, Park S, Carlson JW, Hoskins RA, Bellen HJ and Kaufman TC. A molecularly defined duplication set for the X chromosome of Drosophila melanogaster. Genetics Dec 2010, 186:1111-25. PMCID: PMC2998297.
  68. Ward AJ, Rimer M, Killian JM, Dowing JJ and Cooper TA. CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mole Genet Sept 2010,19:3614-22. PMCID: PMC2928132.
  69. White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, Wakamiya M, Edwards SF, Raskin S, Teive HA, Zoghbi HY, Sarkar PS and Ashizawa T. Inactivation of hnRNPK by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet Jun 2010, 6:e1000984. PMCID: PMC2883596.
  70. Wu CS, Zhu J, Wager-Miller J, Wang S, O'Leary D, Monory K, Lutz B, Mackie K and Lu HC. Requirement of cannabinoid CB(1) receptors in cortical pyramidal neurons for appropriate development of corticothalamic and thalamocortical projections. Eur J Neurosci Sept 2010, 32:693-706. PMCID: PMC2970673.
  71. Yang T, Mendoza-Londono R, Lu H, Tao J, Li K, Keller B, Jiang MM, Shah R, Chen Y, Bertin TK, Engin F,Dabovic B, Rifkin DB, Hicks J, Jamrich M, Beaudet AL and B. Lee. Negative regulation of TGFb by ESL-1 in the Golgi during skeletogenesis. Journal of Clinical Investigation Jul 2010, 120:2474-85. PMCID: PMC2898604.
  72. Yamamoto S, Charng WL and Bellen HJ. Endocytosis and intracellular trafficking of Notch and its ligands. Curr Top Dev Biol 2010, 92:165-200. PMID: 20816395
  73. Zhang TA, Tang J, Pidoplichko VI and Dani JA. Addictive nicotine alers local circuit inhibition during the induction of in vivo hippocampal synaptic potentiation. J Neurosci May 2010, 30:6443-53. PMCID: PMC2891764.
  74. Zhang TA, Placzek AN and Dani JA. In vitro identification and electrophysiological characterization of dopamine neurons in the ventral tegmental area. Neuropharmacology Nov 2010, 59:431-6. PMCID: PMC2946471.
  75. Zoghbi HY and Warren S. Neurogenetics: Advancing the “next-generation” of brain research. Neuron Oct 2010. 68:165-173. PMCID: PMC2982747.
  76. Delosaz M, Levine SS, Frampton GM, Whyte WA, Stratton Sa, Barton MC, Gunaratne PH, Young RA and Zwaka TP. Ronin/Hcf-1 binds to a hyperconserved enhancer element and regulates genes involved in the growth of embryonic stem cells. Genes Dev Jul 2010, 24:1479-84. PMCID: PMC2904937.
  77. Zwaka TP. Stem cells: Troublesome memories. Nature Sep 2010, 467:280-1. PMID: 20844526.
  78. Zwaka TP. Unraveling the score of the enhancer symphony. Proc Natl Acad Sci, USA Dec 2010, 107:21931-6. PMCID: PMC3003053.
  79. Zwaka TP. The stem cell “tunnel effect.” Mol Ther Dec 2010, 18:2043-4. PMCID: PMC2997598.
  80. Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR,Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Generalized connective tissue disease in Crtap-/- mouse. PLoS One. 2010 May 11;5(5):e10560.
  81. Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am J Med Genet A. 2010 Jul;152A(7):1825-31.
  82. Campeau PM, Pivalizza PJ, Miller G, McBride K, Karpen S, Goss J, Lee BH. Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study. Mol Genet Metab. 2010;100 Suppl 1:S84-7. Epub 2010 Feb 19.
  83. Chan CS, Chen H, Bradley A, Dragatsis I, Rosenmund C, Davis RL. Alpha8-integrins are required for hippocampal long-term potentiation but not for hippocampal-dependent learning. Genes Brain Behav. 2010 Jun 1;9(4):402-10. Epub 2010 Jan 30.
  84. Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010 Nov 11;468(7321):263-9.
  85. Collins SC, Bray SM, Suhl JA, Cutler DJ, Coffee B, Zwick ME, Warren ST. Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A. 2010 Oct;152A(10):2512-20.
  86. Collins SC, Coffee B, Benke PJ, Berry-Kravis E, Gilbert F, Oostra B, Halley D, Zwick ME, Cutler DJ, Warren ST. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One. 2010 Mar 5;5(3):e9476.
  87. Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet. 2010 Jul 8;6(7):e1001021.
  88. Gómez-Varela D, Kohl T, Schmidt M, Rubio ME, Kawabe H, Nehring RB, Schäfer S, Stühmer W, Pardo LA. Characterization of Eag1 channel lateral mobility in rat hippocampal cultures by single-particle-tracking with quantum dots. PLoS One. 2010 Jan 25;5(1):e8858.
  89. Graham BH, Li Z, Alesii EP, Versteken P, Lee C, Wang J, Craigen WJ. Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease. J Biol Chem. 2010 Apr 9;285(15):11143-53. Epub 2010 Jan 28.
  90. Gross C, Nakamoto M, Yao X, Chan CB, Yim SY, Ye K, Warren ST, Bassell GJ. Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome. J Neurosci. 2010 Aug 11;30(32):10624-38.
  91. Hunter JE, Rohr JK, Sherman SL. Co-occurring diagnoses among FMR1 premutation allele carriers. Clin Genet. 2010 Apr;77(4):374-81. Epub 2010 Jan 6.
  92. Li H, Wang Z, Wang B, Guo Q, Dolios G, Tabuchi K, Hammer RE, Südhof TC, Wang R, Zheng H. Genetic dissection of the amyloid precursor protein in developmental function and amyloid pathogenesis. J Biol Chem. 2010 Oct 1;285(40):30598-605. Epub 2010 Aug 6.
  93. Nadin BM, Pfaffinger PJ. Dipeptidyl peptidase-like protein 6 is required for normal electrophysiological properties of cerebellar granule cells. J Neurosci. 2010 Jun 23;30(25):8551-65.
  94. Xia A, Gao SS, Yuan T, Osborn A, Bress A, Pfister M, Maricich SM, Pereira FA, Oghalai JS. Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation. Dis Model Mech. 2010 Mar-Apr;3(3-4):209-23. Epub 2010 Feb 8.
  95. Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet. 2010 Mar 12;86(3):462-70. Epub 2010 Feb 25.
  96. Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010 Jun 11;86(6):892-903. Epub 2010 May 20.

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