Abraham AB, Bronstein R, Chen EI, Koller A, Ronfani L, Maletic-Savatic M, Tsirka SE. Members of the high mobility group B protein family are dynamically expressed in embryonic neural stem cells.  Proteome Sci. 2013 Apr 27;11(1):18 PMID: 23621913.

Abraham AB, Bronstein R, Reddy AS, Maletic-Savatic M, Aguirre A, Tsirka SE. Aberrant neural stem cell proliferation and increased adult neurogenesis in mice lacking chromatin protein HMGB2. PLoS One. 2013;8(12):e84838 PMID: 24391977.

Atkins M, Jiang Y, Sansores-Garcia L, Jusiak B, Halder G, Mardon G. Dynamic rewiring of the Drosophila retinal determination network switches its function from selector to differentiation. PLoS Genet. 2013 Aug;9(8):e1003731 PMID: 24009524. 

Auffray C, Caulfield T, Khoury MJ, Lupski JR, Schwab M, Veenstra T. 2012 highlights in translational 'omics. Genome Med.  2013 Jan 31;5(1):10 PMID: 23369291.

Baalman KL, Cotton RJ, Rasband SN, Rasband MN. Blast wave exposure impairs memory and decreases axon initial segment length. J Neurotrauma. 2013 May 1;30(9):741-51 PMID: 23025758.

Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH.  De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.  Genome Med.  2013 Feb 5;5(2):11 PMID: 23383720.

Baker SA, Chen L, Wilkins, AD, Yu P, Lichtarge O, and Zoghbi HYAn AT-hook domain in MeCP2 determines clinical course of Rett syndrome and related disorders. Cell. 2013 Feb 28;152(5):984-96 PMID: 23452848.

Bartnikas TB, Steinbicker AU, Campagna DR, Blevins S, Woodward LS, Herrera C, Bloch KD, Justice MJ, Fleming MD.  Identification and characterization of a novel murine allele of Tmprss6. Haematologica.  2013 Jun;98(6):854-61 PMID: 23300183.

Beaudet AL.  The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.  Child Dev.  2013 Jan-Feb;84(1):121-32 PMID: 23311723.

Beck TF, Shchelochkov OA, Yu Z, Kim BJ, Hernández-García A, Zaveri HP, Bishop C, Overbeek PA, Stockton DW, Justice MJ, Scott DA.  Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.  PLoS One.  2013;8(3):e58830 PMID: 23536828.

Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet.  2013 Mar 1;22(5):1026-38 PMID: 23221805.

Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK; Outcome Measures Working Groups.  Outcome measures for clinical trials in fragile X syndrome.  J Dev Behav Pediatr.  2013 Sep;34(7):508-22 PMID: 24042082.

Bhat-Nakshatri P, Song EK, Collins NR, Uversky VN, Dunker AK, O'Malley BW, Geistlinger TR, Carroll JS, Brown M, Nakshatri H. Interplay between estrogen receptor and AKT in estradiol-induced alternative splicing.  BMC Med Genomics.  2013 Jun 11;6:21 PMID: 23758675.

Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, Lalani SR, Patel A, Stankiewicz P, Lupski JR, Beaudet AL, Cheung SW.  Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?  Genet Med.  2013 Jun;15(6):450-7 PMID: 23238528.

Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW.  Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.  Am J Hum Genet.  2013 Sep 5;93(3):471-81 PMID: 23993193

Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR.  Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res.  2013 Sep;23(9):1383-94 PMID: 23685542.

Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JRIncidental copy-number variants identified by routine genome testing in a clinical population.  Genet Med.  2013 Jan;15(1):45-54 PMID: 22878507.

Brunetti-Pierri N, Ng T, Iannitti D, Cioffi W, Stapleton G, Law M, Breinholt J, Palmer D, Grove N, Rice K, Bauer C, Finegold M, Beaudet A, Mullins C, Ng P.  Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors.  Hum Gene Ther.  2013 Aug;24(8):761-5 PMID: 23902403.

Bucasas KL, Mian AI, Demmler-Harrison GJ, Caviness AC, Piedra PA, Franco LM, Shaw CA, Zhai Y, Wang X, Bray MS, Couch RB, Belmont JWGlobal gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks.  Pediatr Infect Dis J.  2013 Feb;32(2):e68-76 PMID: 23190772.

Buchovecky CM, Turley SD, Brown HM, Kyle SM, McDonald JG, Liu B, Pieper AA, Huang W, Katz DM, Russell DW, Shendure J, Justice MJA suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.  Nat Genet.  2013 Sep;45(9):1013-20 PMID: 23892605.

Buffington SA, Rasband MN.  Na+ channel-dependent recruitment of Navβ4 to axon initial segments and nodes of Ranvier.  J Neurosci.  2013 Apr 3;33(14):6191-202 PMID: 23554500.

Cagan RL, Justice MJ, Tidmarsh GF.  Bridging the gap between basic and applied biology: towards preclinical translation.  Dis Model Mech.  2013 May;6(3):559-61 PMID: 23616075.

Cai T, Seymour ML, Zhang H, Pereira FA, Groves AK. Conditional deletion of Atoh1 reveals distinct critical periods for survival and function of hair cells in the organ of Corti.   J Neurosci.  2013 Jun 12;33(24):10110-22 PMID: 23761906.

Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CA. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.  PLoS Genet.  2013;9(9):e1003797 PMID: 24086149.

Cappuccio G, Brunetti-Pierri N, Terrone G, Romano A, Andria G, Del Giudice E.  Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.  JIMD Rep.  2013;9:113-6 PMID: 23430556.

Carofino BL, Ayanga B, Justice MJA mouse model for inducible overexpression of Prdm14 results in rapid-onset and highly penetrant T-cell acute lymphoblastic leukemia (T-ALL).  Dis Model Mech.  2013 Nov;6(6):1494-506 PMID: 24046360.

Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR.  Replicative mechanisms for CNV formation are error prone.  Nat Genet.  2013 Nov;45(11):1319-26 PMID: 24056715.

Casanova JR, Nishimura M, Swann JWThe effects of early-life seizures on hippocampal dendrite development and later-life learning and memory.   Brain Res Bull.  2013 Oct 15 PMID: 24140049.

Cassidy JJ, Jha AR, Posadas DM, Giri R, Venken KJ, Ji J, Jiang H, Bellen HJ, White KP, Carthew RW.  miR-9a minimizes the phenotypic impact of genomic diversity by buffering a transcription factor.  Cell.  2013 Dec 19;155(7):1556-67 PMID: 24360277.

Cervantes-Sandoval I, Martin-Peña A, Berry JA, Davis RL.  System-like consolidation of olfactory memories in Drosophila.  J Neurosci.  2013 Jun 5;33(23):9846-54 PMID: 23739981.

Chaboub LS, Deneen BAstrocyte form and function in the developing central nervous system.  Semin Pediatr Neurol.  2013 Dec;20(4):230-5 PMID: 24365570.

Chakrabarty P, Rosario A, Cruz P, Siemienski Z, Ceballos-Diaz C, Crosby K, Jansen K, Borchelt DR, Kim JY, Jankowsky JL, Golde TE, Levites Y. Capsid serotype and timing of injection determines AAV transduction in the neonatal mice brain.  PLoS One.  2013 Jun 25;8(6):e67680 PMID: 23825679.

Chang KJ, Rasband MN.  Excitable domains of myelinated nerves: axon initial segments and nodes of Ranvier.  Curr Top Membr.  2013;72:159-92 PMID: 24210430.

Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ.   Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.  Mol Genet Metab.  2013 Sep-Oct;110(1-2):153-61 PMID: 23932787.

Chen TT, Klassen TL, Goldman AM, Marini C, Guerrini R, Noebels JL.  Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology.  2013 Mar 19;80(12):1078-85 PMID: 23408874.

Cheung WK, Zhao M, Liu Z, Stevens LE, Cao PD, Fang JE, Westbrook TF, Nguyen DX. Control of alveolar differentiation by the lineage transcription factors GATA6 and HOPX inhibits lung adenocarcinoma metastasis.  Cancer Cell.  2013 Jun 10;23(6):725-38 PMID: 23707782.

Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N.  A recurrent PDGFRB mutation causes familial infantile myofibromatosis.  Am J Hum Genet.  2013 Jun 6;92(6):996-1000 PMID: 23731537.

Cho SI, Gao SS, Xia A, Wang R, Salles FT, Raphael PD, Abaya H, Wachtel J, Baek J, Jacobs D, Rasband MN, Oghalai JS.  Mechanisms of hearing loss after blast injury to the ear.  PLoS One.  2013 Jul 1;8(7):e67618 PMID: 23840874.

Clementi C, Tripurani SK, Large MJ, Edson MA, Creighton CJ, Hawkins SM, Kovanci E, Kaartinen V, Lydon JP, Pangas SA, DeMayo FJ, Matzuk MM.  Activin-like kinase 2 functions in peri-implantation uterine signaling in mice and humans.  PLoS Genet.  2013 Nov;9(11):e1003863 PMID: 24244176.

Cole AJ, Eskandar E, Mela T, Noebels JL, Gonzalez RG, McGuone D. Case records of the Massachusetts General Hospital. Case 18-2013: a 32-year-old woman with recurrent episodes of altered consciousness.  N Engl J Med.  2013 Jun 13;368(24):2304-12 PMID: 23758236.

Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ.  Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.  Mol Genet Metab.  2013 Jul;109(3):260-8 PMID: 23660394.

Costa-Mattioli M, Monteggia LM.  mTOR complexes in neurodevelopmental and neuropsychiatric disorders.  Nat Neurosci.  2013 Nov;16(11):1537-43 PMID: 24165680.

Cotton RJ, Froudarakis E, Storer P, Saggau P, Tolias ASThree-dimensional mapping of microcircuit correlation structure.  Front Neural Circuits.  2013;7:151 PMID: 24133414.

Couch RB, Atmar RL, Franco LM, Quarles JM, Wells J, Arden N, Niño D, Belmont JW. Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase.  J Infect Dis.  2013 Mar 15;207(6):974-81 PMID: 23307936.

Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE.  Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.  BMC Med Genet.  2013 Aug 16;14:83 PMID: 23947751.

Cui Y, Versace F, Engelmann JM, Minnix JA, Robinson JD, Lam CY, Karam-Hage M, Brown VL, Wetter DW, Dani JA, Kosten TR, Cinciripini PM. Alpha oscillations in response to affective and cigarette-related stimuli in smokers.  Nicotine Tob Res.  2013 May;15(5):917-24 PMID: 23060019.

Dani JA, De Biasi M.  Mesolimbic dopamine and habenulo-interpeduncular pathways in nicotine withdrawal.  Cold Spring Harb Perspect Med.  2013 Jun 1;3(6) PMID: 23732854.

Dani JA, Donnelly-Roberts D, Bertrand D.  Nicotinic acetylcholine receptors as therapeutic targets: emerging frontiers in basic research and clinical science--editorial comments. Biochem Pharmacol.  2013 Oct 15;86(8):1041 PMID: 23684691.

Davis RL.  Spermidine cures flies of senior moments.  Nat Neurosci.  2013 Oct;16(10):1363-4 PMID: 24067287.

de Haro M, Al-Ramahi I, Jones KR, Holth JK, Timchenko LT, Botas J. Smaug/SAMD4A restores translational activity of CUGBP1 and suppresses CUG-induced myopathy.   PLoS Genet.  2013 Apr;9(4):e1003445 PMID: 23637619.

de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY.  Detection of clinically relevant copy number variants with whole-exome sequencing.  Hum Mutat.  2013 Oct;34(10):1439-48 PMID: 23893877.

Dejosez M, Ura H, Brandt VL, Zwaka TPSafeguards for cell cooperation in mouse embryogenesis shown by genome-wide cheater screen.  Science.  2013 Sep 27;341(6153):1511-4 PMID: 24030493.

Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A.  Inverted low-copy repeats and genome instability--a genome-wide analysis.  Hum Mutat.  2013 Jan;34(1):210-20 PMID: 22965494.

Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, et al.  NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.  Genome Res.  2013 Sep;23(9):1395-409 PMID: 23657883.

Dong S, Jia C, Zhang S, Fan G, Li Y, Shan P, Sun L, Xiao W, Li L, Zheng Y, Liu J, Wei H, Hu C, Zhang W, Chin YE, Zhai Q, Li Q, Liu J, Jia F, Mo Q, Edwards DP, Huang S, et al.  The REGγ proteasome regulates hepatic lipid metabolism through inhibition of autophagy.   Cell Metab.  2013 Sep 3;18(3):380-91 PMID: 24011073.

Dong Y, Dani JA, Blakely RD.  Choline transporter hemizygosity results in diminished basal extracellular dopamine levels in nucleus accumbens and blunts dopamine elevations following cocaine or nicotine.  Biochem Pharmacol.  2013 Oct 15;86(8):1084-8 PMID: 23939187.

Doolan I, Najman JM, Mills R, Cherney A, Strathearn L. Does child abuse and neglect explain the overrepresentation of Aboriginal and Torres Strait Islander young people in youth detention? Findings from a birth cohort study.  Child Abuse Negl.  2013 May;37(5):303-9 PMID: 23352083.

Doyon WM, Dong Y, Ostroumov A, Thomas AM, Zhang TA, Dani JA. Nicotine decreases ethanol-induced dopamine signaling and increases self-administration via stress hormones. Neuron.  2013 Aug 7;79(3):530-40 PMID: 23871233.

Doyon WM, Thomas AM, Ostroumov A, Dong Y, Dani JA.  Potential substrates for nicotine and alcohol interactions: a focus on the mesocorticolimbic dopamine system. Biochem Pharmacol. 2013 Oct 15;86(8):1181-93 PMID: 23876345.

Eble TN, Nagamani SC, Franco LM, Plon SE, Blazo M, Dhar SU.  The practice of adult genetics:  a 7-year experience from a single center.  Am J Med Genet A.  2013 Jan;161A(1):89-93 PMID: 23239603.

Eom T, Zhang C, Wang H, Lay K, Fak J, Noebels JL, Darnell RB.  NOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure.  Elife.  2013 Jan 22;2:e00178 PMID: 23359859.

Euteneuer J, Carvalho CM, Kulkarni S, Vineyard M, Grady RM, Lupski JR, Shinawi M.  Molecular and Phenotypic Characterization of Atypical Williams-Beuren Syndrome.  Clin Genet.  2013 Oct 21 PMID: 24246242.

Feeney EJ, Spampanato C, Puertollano R, Ballabio A, Parenti G, Raben N. What else is in store for autophagy?  Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease. Autophagy. 2013 Jul;9(7):1117-8 PMID: 23669057.

Ferriero R, Brunetti-Pierri NAnti-cancer drug phenylbutyrate increases activity of pyruvate dehydrogenase complex. Oncotarget. 2013 Apr 28 PMID: 23633470.

Ferriero R, Brunetti-Pierri N. Phenylbutyrate increases activity of pyruvate dehydrogenase complex. Oncotarget. 2013 Jun;4(6):804-5 PMID: 23868807.

Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, Stacpoole PW, Lee B, Zeviani M, Brunetti-Pierri N. Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med. 2013 Mar 6;5(175):175ra31 PMID: 23467562.

Ferron M, Settembre C, Shimazu J, Lacombe J, Kato S, Rawlings DJ, Ballabio A, Karsenty G.  A RANKL-PKCβ-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts.  Genes Dev.  2013 Apr 15;27(8):955-69 PMID: 23599343.

Foulds CE, Feng Q, Ding C, Bailey S, Hunsaker TL, Malovannaya A, Hamilton RA, Gates LA, Zhang Z, Li C, Chan D, Bajaj A, Callaway CG, Edwards DP, Lonard DM, Tsai SY, Tsai MJ, Qin J, O'Malley BWProteomic analysis of coregulators bound to ERα on DNA and nucleosomes reveals coregulator dynamics.  Mol Cell.  2013 Jul 25;51(2):185-99 PMID: 23850489.

Franco LM, Bucasas KL, Wells JM, Niño D, Wang X, Zapata GE, Arden N, Renwick A, Yu P, Quarles JM, Bray MS, Couch RB, Belmont JW, Shaw CA.  Integrative genomic analysis of the human immune response to influenza vaccination.  Elife.  2013 Jul 16;2:e00299 PMID: 23878721.

Gao Z, Cooper TAAntisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy.  Hum Gene Ther.  2013 May;24(5):499-507 PMID: 23252746.

Gao Z, Cooper TAReexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy.  Proc Natl Acad Sci U S A .  2013 Aug 13;110(33):13570-5 PMID: 23901116.

Garcia I, Kim C, Arenkiel BR. Revealing neuronal circuitry using stem cell-derived neurons.Curr Protoc Stem Cell Biol.  2013;Chapter 2:Unit 2D PMID: 23661247.

Giagtzoglou N, Li T, Yamamoto S, Bellen HJ.  Drosophila EHBP1 regulates Scabrous secretion during Notch-mediated lateral inhibition.   J Cell Sci .  2013 Aug 15;126(Pt 16):3686-96 PMID: 23788431.

Glasgow SM, Laug D, Brawley VS, Zhang Z, Corder A, Yin Z, Wong ST, Li XN, Foster AE, Ahmed N, Deneen BThe miR-223/nuclear factor I-A axis regulates glial precursor proliferation and tumorigenesis in the CNS.  J Neurosci.  2013 Aug 14;33(33):13560-8 PMID: 23946414.

Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W.  Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.  JAMA Neurol.  2013 Dec;70(12):1491-8 PMID: 24126608.

Green RC, Lupski JR, Biesecker LG.  Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.  JAMA.  2013 Jul 24;310(4):365-6 PMID: 23917280.

Groves AK, Zhang KD, Fekete DM. The genetics of hair cell development and regeneration.  Annu Rev Neurosci.  2013 Jul 8;36:361-81 PMID: 23724999.

Gurha P, Wang T, Larimore AH, Sassi Y, Abreu-Goodger C, Ramirez MO, Reddy AK, Engelhardt S, Taffet GE, Wehrens XH, Entman ML, Rodriguez A.  microRNA-22 promotes heart failure through coordinate suppression of PPAR/ERR-nuclear hormone receptor transcription.  PLoS One.  2013;8(9):e75882 PMID: 24086656.

Haase Gilbert E, Kwak SJ, Chen R, Mardon GDrosophila signal peptidase complex member Spase12 is required for development and cell differentiation.  PLoS One.  2013;8(4):e60908 PMID: 23573290.

Hagemann TL, Paylor R, Messing A.  Deficits in adult neurogenesis, contextual fear conditioning, and spatial learning in a Gfap mutant mouse model of Alexander disease.   J Neurosci.  2013 Nov 20;33(47):18698-706 PMID: 24259590.

Han K, Holder JL Jr, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HYSHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.  Nature.  2013 Nov 7;503(7474):72-7 PMID: 24153177.

Han SM, El Oussini H, Scekic-Zahirovic J, Vibbert J, Cottee P, Prasain JK, Bellen HJ, Dupuis L, Miller MA. VAPB/ALS8 MSP ligands regulate striated muscle energy metabolism critical for adult survival in caenorhabditis elegans.  PLoS Genet.  2013;9(9):e1003738 PMID: 24039594.

Hansen MA, Bhattacharjee MB, Bhattacharjee M.  Case Scenario and inquiry in response to: diagnostic utility of HFE variants in Spanish patients.  Gene.  2013 Jul 1;523(1):112-3; Gene 2013; 514 (1): 31-35. PMID: 23537989.

Harris RA, Shaw C, Li J, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A.  Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability.  PLoS Genet.  2013;9(2):e1003333 PMID: 23468659.

Heil KM, Schaaf CP.  The genetics of Autism Spectrum Disorders--a guide for clinicians.  Curr Psychiatry Rep.  2013 Jan;15(1):334 PMID: 23250815.

Hesdorffer DC, Shinnar S, Lewis DV, Nordli DR Jr, Pellock JM, Moshé SL, Shinnar RC, Litherland C, Bagiella E, Frank LM, Bello JA, Chan S, Masur D, Macfall J, Sun S; Consequences of Prolonged Febrile Seizures in Childhood (FEBSTAT) Study Team.  Risk factors for febrile status epilepticus: a case-control study.  J Pediatr.  2013 Oct;163(4):1147-51 PMID: 23809042.

Hinman JD, Rasband MN, Carmichael ST.  Remodeling of the axon initial segment after focal cortical and white matter stroke.  Stroke.  2013 Jan;44(1):182-9 PMID: 23233385.

Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, et al.  ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.   Am J Hum Genet.  2013 Aug 8;93(2):357-67 PMID: 23849778.

Holth JK, Bomben VC, Reed JG, Inoue T, Younkin L, Younkin SG, Pautler RG, Botas J, Noebels JLTau loss attenuates neuronal network hyperexcitability in mouse and Drosophila genetic models of epilepsy.  J Neurosci.  2013 Jan 23;33(4):1651-9 PMID: 23345237.

Huang L, Garcia I, Jen HI, Arenkiel BRReciprocal connectivity between mitral cells and external plexiform layer interneurons in the mouse olfactory bulb.  Front Neural Circuits.  2013;7:32 PMID: 23459611.

Huang W, Zhu PJ, Zhang S, Zhou H, Stoica L, Galiano M, Krnjevic K, Roman G, Costa-Mattioli M.  mTORC2 controls actin polymerization required for consolidation of long-term memory.  Nat Neurosci.  2013 Apr;16(4):441-8 PMID: 23455608.

Iwamori N, Iwamori T, Matzuk MM.  H3K27 demethylase, JMJD3, regulates fragmentation of spermatogonial cysts.  PLoS One.  2013;8(8):e72689 PMID: 23967333.

Jarman AP, Groves AK. The role of Atonal transcription factors in the development of mechanosensitive cells.  Semin Cell Dev Biol.  2013 May;24(5):438-47 PMID: 23548731.

Jiang Z, Zhu L, Hu L, Slesnick TC, Pautler RG, Justice MJ, Belmont JW.  Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development. Hum Mol Genet.  2013 Mar 1;22(5):879-89 PMID: 23184148.

Jin J, Iakova P, Jiang Y, Lewis K, Sullivan E, Jawanmardi N, Donehower L, Timchenko L, Timchenko NA. Transcriptional and translational regulation of C/EBPa-HDAC1 protein complexes controls different levels of p53, SIRT1, and PGC1α proteins at the early and late stages of liver cancer.  J Biol Chem .  2013 May 17;288(20):14451-62 PMID: 23564453.

Jin M, Jusiak B, Bai Z, Mardon G. Eyes absent tyrosine phosphatase activity is not required for Drosophila development or survival.  PLoS One .  2013;8(3):e58818 PMID: 23554934.

John Lin CC, Deneen BAstrocytes: the missing link in neurologic disease?  Semin Pediatr Neurol.  2013 Dec;20(4):236-41 PMID: 24365571.

Kahle JJ, Souroullas GP, Yu P, Zohren F, Lee Y, Shaw CA, Zoghbi HY, Goodell MA.  Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery.  PLoS Genet.  2013 Mar;9(3):e1003359 PMID: 23555280.

Kaphzan H, Buffington SA, Ramaraj AB, Lingrel JB, Rasband MN, Santini E, Klann E.  Genetic reduction of the α1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome.  Cell Rep.  2013 Aug 15;4(3):405-12 PMID: 23911285.

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Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernández-García A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA.  An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PLoS One.  2013;8(2):e57460 PMID: 23451234.

Kim E, Lu HC, Zoghbi HY, Song JJ.  Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein ATAXIN-1 and Capicua.  Genes Dev.  2013 Mar 15;27(6):590-5 PMID: 23512657.

Kim JY, Ash RT, Ceballos-Diaz C, Levites Y, Golde TE, Smirnakis SM, Jankowsky JLViral transduction of the neonatal brain delivers controllable genetic mosaicism for visualising and manipulating neuronal circuits in vivo.  Eur J Neurosci.  2013 Apr;37(8):1203-20 PMID: 23347239.

Kim S, Fonagy P, Koos O, Dorsett K, Strathearn LMaternal oxytocin response predicts mother-to-infant gaze.  Brain Res.  2013 Nov 1 PMID: 24184574.

Kim S, Soeken TA, Cromer SJ, Martinez SR, Hardy LR, Strathearn LOxytocin and postpartum depression: Delivering on what's known and what's not.  Brain Res.  2013 Nov 14 PMID: 24239932.

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Kommagani R, Szwarc MM, Kovanci E, Gibbons WE, Putluri N, Maity S, Creighton CJ, Sreekumar A, DeMayo FJ, Lydon JP, O'Malley BWAcceleration of the glycolytic flux by steroid receptor coactivator-2 is essential for endometrial decidualization.  PLoS Genet.  2013 Oct;9(10):e1003900 PMID: 24204309.

Kunjilwar K, Qian Y, Pfaffinger PJFunctional stoichiometry underlying KChIP regulation of Kv4.2 functional expression.  J Neurochem.  2013 Aug;126(4):462-72 PMID: 23692269.

Lacaria M, Gu W, Lupski JRA functional role for structural variation in metabolism. Adipocyte.  2013 Jan 1;2(1):55-57 PMID: 23700554.

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Lajud SA, Han Z, Chi FL, Gu R, Nagda DA, Bezpalko O, Sanyal S, Bur A, Han Z, O'Malley BW Jr, Li D.  A regulated delivery system for inner ear drug application.  J Control Release.  2013 Mar 28;166(3):268-76 PMID: 23313113.

Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, et al.  Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.  Eur J Hum Genet.  2013 Feb;21(2):173-81 PMID: 22929023.

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Lee TV, Sethi MK, Leonardi J, Rana NA, Buettner FF, Haltiwanger RS, Bakker H, Jafar-Nejad H.  Negative regulation of notch signaling by xylose. PLoS Genet.  2013 Jun;9(6):e1003547 PMID: 23754965.

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Li-Kroeger D, Bellen HJ, Zhai RG, Lu HCNMNATs, evolutionary conserved neuronal maintenance factors Ali YO1.  Trends Neurosci.  2013 Nov;36(11):632-40 PMID: 23968695.

Lim AK, Lorthongpanich C, Chew TG, Tan CW, Shue YT, Balu S, Gounko N, Kuramochi-Miyagawa S, Matzuk MM, Chuma S, Messerschmidt DM, Solter D, Knowles BB.  The nuage mediates retrotransposon silencing in mouse primordial ovarian follicles. Development.  2013 Sep;140(18):3819-25 PMID: 23924633.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.   Genome Med.  2013 Jun 27;5(6):57 PMID: 23806086.

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Maejima T, Wollenweber P, Teusner LU, Noebels JL, Herlitze S, Mark MD. Postnatal loss of P/Q-type channels confined to rhombic-lip-derived neurons alters synaptic transmission at the parallel fiber to purkinje cell synapse and replicates genomic Cacna1a mutation phenotype of ataxia and seizures in mice.  J Neurosci.  2013 Mar 20;33(12):5162-74 PMID: 23516282.

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Maizels N, Lupski JR.  Molecular and genetic bases of disease.  Curr Opin Genet Dev.  2013 Jun;23(3):229-31 PMID: 23790955.

Manczak M, Sheiko T, Craigen WJ, Reddy PH.  Reduced VDAC1 protects against Alzheimer's disease, mitochondria, and synaptic deficiencies.  J Alzheimers Dis.  2013;37(4):679-90 PMID: 23948905.

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McCauley SR, Wilde EA, Moretti P, Macleod MC, Pedroza C, Drever P, Fourwinds S, Frisby ML, Beers SR, Scott JN, Hunter JV, Traipe E, Valadka AB, Okonkwo DO, Zygun DA, Puccio AM, Clifton GL.  Neurological outcome scale for traumatic brain injury: III. Criterion-related validity and sensitivity to change in the NABIS hypothermia-II clinical trial.  J Neurotrauma .  2013 Sep 1;30(17):1506-11 PMID: 23617608.

Meng L, Person RE, Huang W, Zhu PJ, Costa-Mattioli M, Beaudet ALTruncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.   PLoS Genet.  2013 Dec;9(12):e1004039 PMID: 24385930.

Meola G, Jones K, Wei C, Timchenko LT.  Dysfunction of protein homeostasis in myotonic dystrophies. Histol Histopathol.  2013 Sep;28(9):1089-98 PMID: 23536431.

Mills R, Scott J, Alati R, O'Callaghan M, Najman JM, Strathearn L. Child maltreatment and adolescent mental health problems in a large birth cohort. Child Abuse Negl. 2013 May;37(5):292-302 PMID: 23380430.

Mire SS, Nowell KP, Kubiszyn T, Goin-Kochel RPPsychotropic medication use among children with autism spectrum disorders within the Simons Simplex Collection: Are core features of autism spectrum disorder related?  Autism.  2013 Sep 26 PMID: 24031086.

Molofsky AV, Glasgow SM, Chaboub LS, Tsai HH, Murnen AT, Kelley KW, Fancy SP, Yuen TJ, Madireddy L, Baranzini S, Deneen B, Rowitch DH, Oldham MC.  Expression profiling of Aldh1l1-precursors in the developing spinal cord reveals glial lineage-specific genes and direct Sox9-Nfe2l1 interactions.  Glia.  2013 Sep;61(9):1518-32 PMID: 23840004.

Nadin BM, Pfaffinger PJA new TASK for Dipeptidyl Peptidase-like Protein 6.  PLoS One.  2013 Apr 9;8(4):e60831 PMID: 23593319.

Nagamani SC, Erez A, Ben-Zeev B, Frydman M, Winter S, Zeller R, El-Khechen D, Escobar L, Stankiewicz P, Patel A, Cheung SW.  Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.  Eur J Hum Genet.  2013 Mar;21(3):343-6 PMID: 22872102.

Nagashima T, Li Q, Clementi C, Lydon JP, DeMayo FJ, Matzuk MMBMPR2 is required for postimplantation uterine function and pregnancy maintenance.  J Clin Invest.  2013 Jun 3;123(6):2539-50 PMID: 23676498.

Nakamura H, Cook RN, Justice MJMouse Tenm4 is required for mesoderm induction.  BMC Dev Biol.  2013 Mar 25;13:9 PMID: 23521771.

Nelson DL, Orr HT, Warren ST.  The unstable repeats--three evolving faces of neurological disease.  Neuron.  2013 Mar 6;77(5):825-43 PMID: 23473314.

Ning L, Tian L, Smirnov S, Vihinen H, Llano O, Vick K, Davis RL, Rivera C, Gahmberg CG.  Interactions between ICAM-5 and β1 integrins regulate neuronal synapse formation.   J Cell Sci .  2013 Jan 1;126(Pt 1):77-89 PMID: 23015592.

Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CM, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR.  Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med.  2013 Oct 17 PMID: 24136616.

Okamoto Y, Pehlivan D, Wiszniewski W, Beck CR, Snipes GJ, Lupski JR, Khajavi M.  Curcumin facilitates a transitory cellular stress response in Trembler-J mice.  Hum Mol Genet.  2013 Dec 1;22(23):4698-705 PMID: 23847051.

O'Malley BW, Khan S.  Elwood V. Jensen (1920-2012): father of the nuclear receptors. Proc Natl Acad Sci U S A.  2013 Mar 5;110(10):3707-8 PMID: 23471960.

Park J, Al-Ramahi I, Tan Q, Mollema N, Diaz-Garcia JR, Gallego-Flores T, Lu HC, Lagalwar S, Duvick L, Kang H, Lee Y, Jafar-Nejad P, Sayegh LS, Richman R, Liu X, Gao Y, Shaw CA, Arthur JS, Orr HT, Westbrook TF, Botas J, Zoghbi HYRAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1.  Nature.  2013 Jun 20;498(7454):325-31 PMID: 23719381.

Pastore N, Ballabio A, Brunetti-Pierri N. Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers. Autophagy.  2013 Jul;9(7):1094-6 PMID: 23584152.

Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N.  Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency. EMBO Mol Med .  2013 Mar;5(3):397-412 PMID: 23381957.

Pastore N, Nusco E, Piccolo P, Castaldo S, Vanikova J, Vetrini F, Palmer DJ, Vitek L, Ng P, Brunetti-Pierri N.  Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats.  Hum Gene Ther Methods.  2013 Oct;24(5):321-7 PMID: 23947957.

Pavlova NN, Pallasch C, Elia AE, Braun CJ, Westbrook TF, Hemann M, Elledge SJ.  A role for PVRL4-driven cell-cell interactions in tumorigenesis.  Elife.  2013 Apr 30;2:e00358 PMID: 23682311.

Peddibhotla S, Khalifa M, Probst FJ, Stein J, Harris LL, Kearney DL, Vance GH, Bull MJ, Grange DK, Scharer GH, Kang SH, Stankiewicz P, Bacino CA, Cheung SW, Patel A.  Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.  Am J Med Genet A.  2013 Dec;161A(12):2953-63 PMID: 24123848.

Peng J, Li Q, Wigglesworth K, Rangarajan A, Kattamuri C, Peterson RT, Eppig JJ, Thompson TB, Matzuk MMGrowth differentiation factor 9:bone morphogenetic protein 15 heterodimers are potent regulators of ovarian functions.  Proc Natl Acad Sci U S A.  2013 Feb 19;110(8):E776-85 PMID: 23382188.

Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB.  The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.  Autism Res.  2013 Feb;6(1):42-50 PMID: 23169761.

Peterson C, Vannucci M, Karakas C, Choi W, Ma L, Maletic-Savatic M.  Inferring metabolic networks using the Bayesian adaptive graphical lasso with informative priors.  Stat Interface.  2013 Oct 1;6(4):547-558 PMID: 24533172.

Pfaffinger PJ.  A conserved pre-block interaction motif regulates potassium channel activation and N-type inactivation.  PLoS One.  2013;8(11):e79891 PMID: 24236164.

Piccolo P, Vetrini F, Mithbaokar P, Grove NC, Bertin T, Palmer D, Ng P, Brunetti-Pierri NSR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors.  Mol Ther.  2013 Apr;21(4):767-74 PMID: 23358188.

Pitcher MR, Ward CS, Arvide EM, Chapleau CA, Pozzo-Miller L, Hoeflich A, Sivaramakrishnan M, Saenger S, Metzger F, Neul JLInsulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function.  Hum Mol Genet.  2013 Jul 1;22(13):2626-33 PMID: 23462290.

Prince A, Pfaffinger PJ.  Conserved N-terminal negative charges support optimally efficient N-type inactivation of Kv1 channels.  PLoS One .  2013 Apr 24;8(4):e62695 PMID: 23638135.

Probst FJ, Corrigan RR, Del Gaudio D, Salinger AP, Lorenzo I, Gao SS, Chiu I, Xia A, Oghalai JS, Justice MJ.  A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).  PLoS One.  2013;8(11):e80408 PMID: 24303013.

Qamar AT, Cotton RJ, George RG, Beck JM, Prezhdo E, Laudano A, Tolias AS, Ma WJ.  Trial-to-trial, uncertainty-based adjustment of decision boundaries in visual categorization.  Proc Natl Acad Sci U S A.  2013 Dec 10;110(50):20332-7 PMID: 24272938.

Rasband MNCytoskeleton: axons earn their stripes.  Curr Biol.  2013 Mar 4;23(5):R197-8 PMID: 23473560.

Raznahan A, Probst F, Palmert MR, Giedd JN, Lerch JP.  High resolution whole brain imaging of anatomical variation in XO, XX, and XY mice.   Neuroimage.  2013 Dec;83:962-8 PMID: 23891883.

Redfern AD, Colley SM, Beveridge DJ, Ikeda N, Epis MR, Li X, Foulds CE, Stuart LM, Barker A, Russell VJ, Ramsay K, Kobelke SJ, Li X, Hatchell EC, Payne C, Giles KM, Messineo A, Gatignol A, Lanz RB, O'Malley BW, Leedman PJ.   RNA-induced silencing complex (RISC) Proteins PACT, TRBP, and Dicer are SRA binding nuclear receptor coregulators.  Proc Natl Acad Sci U S A .  2013 Apr 16;110(16):6536-41 PMID: 23550157.

Reeber SL, Loeschel CA, Franklin A, Sillitoe RV.  Establishment of topographic circuit zones in the cerebellum of scrambler mutant mice.  Front Neural Circuits.  2013;7:122 PMID: 23885237.

Reeber SL, Otis TS, Sillitoe RVNew roles for the cerebellum in health and disease.  Front Syst Neurosci.  2013;7:83 PMID: 24294192.

Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, et al.  RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.  Hum Mutat.  2013 Dec;34(12):1632-41 PMID: 24038909.

Reyes SB, Narayanan AS, Lee HS, Tchaicha JH, Aldape KD, Lang FF, Tolias KF, McCarty JH. αvβ8 integrin interacts with RhoGDI1 to regulate Rac1 and Cdc42 activation and drive glioblastoma cell invasion. Mol Biol Cell.  2013 Feb;24(4):474-82 PMID: 23283986.

Riccardi VM, Lupski JRDuplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic. Genet Med.  2013 Mar;15(3):172-3 PMID: 23037932.

Rosenberg NA, Pemberton TJ, Li JZ, Belmont JW.  Runs of homozygosity and parental relatedness. Genet Med.  2013 Sep;15(9):753-4 PMID: 24008258.

Salas R, Fung B, Sturm R, De Biasi M.  Abnormal social behavior in nicotinic acetylcholine receptor β4 subunit-null mice.  Nicotine Tob Res.  2013 May;15(5):983-6 PMID: 23042983.

Samaco RC, McGraw CM, Ward CS, Sun Y, Neul JL, Zoghbi HYFemale Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.  Hum Mol Genet.  2013 Jan 1;22(1):96-109 PMID: 23026749.

Santarpia L, Calin GA, Adam L, Ye L, Fusco A, Giunti S, Thaller C, Paladini L, Zhang X, Jimenez C, Trimarchi F, El-Naggar AK, Gagel RF.  A miRNA signature associated with human metastatic medullary thyroid carcinoma.  Endocr Relat Cancer.  2013 Oct 14;20(6):809-23 PMID: 24127332.

Savulescu D, Feng J, Ping YS, Mai O, Boehm U, He B, O'Malley BW, Melamed P.  Gonadotropin-releasing hormone-regulated prohibitin mediates apoptosis of the gonadotrope cells.  Mol Endocrinol.  2013 Nov;27(11):1856-70 PMID: 24085822.

Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y.  Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.  Nat Genet.  2013 Nov;45(11):1405-8 PMID: 24076603.

Serio G, Zampatti C, Ballabio A, Ricci R, Martini M, Zurleni F.  Neurofibromatosis 1 presenting with multiple duodenal GISTS associated with a somatostatin-producing D cell neoplasm.  Endocr Pathol.  2013 Jun;24(2):100-5 PMID: 23564025.

Settembre C, Ballabio ANew targets for old diseases: lessons from mucolipidosis type II.  EMBO Mol Med.  2013 Dec;5(12):1801-3 PMID: 24293315.

Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Klisch TJ, Wollenberg AC, Di Bernardo D, Chan L, Irazoqui JE, Ballabio A.  TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop.  Nat Cell Biol.  2013 Jun;15(6):647-58 PMID: 23604321.

Settembre C, Fraldi A, Medina DL, Ballabio A.  Signals from the lysosome: a control centre for cellular clearance and energy metabolism.  Nat Rev Mol Cell Biol .  2013 May;14(5):283-96 PMID: 23609508.

Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BHPhenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.  J Bone Miner Res.  2013 Jul;28(7):1523-30 PMID: 23408678.

Simon AK, Ballabio AT. rex attacks the lysosome.  Nat Immunol.  2013 Jan;14(1):10-2 PMID: 23238750.

Song W, Wang F, Savini M, Ake A, di Ronza A, Sardiello M, Segatori L.   TFEB regulates lysosomal proteostasis.  Hum Mol Genet.  2013 May 15;22(10):1994-2009 PMID: 23393155.

Sorrentino NC, D'Orsi L, Sambri I, Nusco E, Monaco C, Spampanato C, Polishchuk E, Saccone P, De Leonibus E, Ballabio A, Fraldi A.  A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.  EMBO Mol Med.  2013 May;5(5):675-90 PMID: 23568409.

Spampanato C, Feeney E, Li L, Cardone M, Lim JA, Annunziata F, Zare H, Polishchuk R, Puertollano R, Parenti G, Ballabio A, Raben N. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.  EMBO Mol Med.  2013 May;5(5):691-706 PMID: 23606558.

Stashi E, Wang L, Mani SK, York B, O'Malley BWResearch resource: loss of the steroid receptor coactivators confers neurobehavioral consequences.  Mol Endocrinol.  2013 Oct;27(10):1776-87 PMID: 23927929.

Strathearn L, Kim S.  Mothers' amygdala response to positive or negative infant affect is modulated by personal relevance.  Front Neurosci.  2013;7:176 PMID: 24115918.

Subramaniyan M, Ecker AS, Berens P, Tolias ASMacaque monkeys perceive the flash lag illusion.  PLoS One.  2013;8(3):e58788 PMID: 23527024.

Sun Z, Liu P, Jia X, Withers MA, Jin L, Lupski JR, Zhang F.  Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.  Hum Mol Genet.  2013 Feb 15;22(4):749-56 PMID: 23161748.

Susuki K, Chang KJ, Zollinger DR, Liu Y, Ogawa Y, Eshed-Eisenbach Y, Dours-Zimmermann MT, Oses-Prieto JA, Burlingame AL, Seidenbecher CI, Zimmermann DR, Oohashi T, Peles E, Rasband MN.  Three mechanisms assemble central nervous system nodes of Ranvier. Neuron.  2013 May 8;78(3):469-82 PMID: 23664614.

Takatoh J, Nelson A, Zhou X, Bolton MM, Ehlers MD, Arenkiel BR, Mooney R, Wang F.  New modules are added to vibrissal premotor circuitry with the emergence of exploratory whisking.   Neuron.  2013 Jan 23;77(2):346-60 PMID: 23352170.

Takei H, Bhattacharjee MB.  Encephalomalacic dysplastic mass lesion associated with vascular abnormalities in an elderly man. Is this acquired" focal cortical dysplasia?"  Int J Clin Exp Pathol.  2013;6(10):2267-71 PMID: 24133610.

Tan Y, Yu D, Busto GU, Wilson C, Davis RL. Wnt signaling is required for long-term memory formation. Cell Rep.  2013 Sep 26;4(6):1082-9 PMID: 24035392.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ. Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun;34(6):882-93 PMID: 23463613.

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Timchenko LMolecular mechanisms of muscle atrophy in myotonic dystrophies. Int J Biochem Cell Biol. 2013 Oct;45(10):2280-7 PMID: 23796888.

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Vingara LK, Yu HJ, Wagshul ME, Serafin D, Christodoulou C, Pelczer I, Krupp LB, Maletic-Savatic MMetabolomic approach to human brain spectroscopy identifies associations between clinical features and the frontal lobe metabolome in multiple sclerosis.  Neuroimage.  2013 Nov 15;82:586-94 PMID: 23751863.

Vislay RL, Martin BS, Olmos-Serrano JL, Kratovac S, Nelson DL, Corbin JG, Huntsman MM.  Homeostatic responses fail to correct defective amygdala inhibitory circuit maturation in fragile X syndrome.  J Neurosci .  2013 Apr 24;33(17):7548-58 PMID: 23616559.

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Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, Wong LJ, Zhang VW.  Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.  Genet Med.  2013 Feb;15(2):106-14 PMID: 22899091.

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Wu CS, Chen H, Sun H, Zhu J, Jew CP, Wager-Miller J, Straiker A, Spencer C, Bradshaw H, Mackie K, Lu HC.  GPR55, a G-protein coupled receptor for lysophosphatidylinositol, plays a role in motor coordination.  PLoS One.  2013;8(4):e60314 PMID: 23565223.

Wu RC, Jiang M, Beaudet AL, Wu MY.  ARID4A and ARID4B regulate male fertility, a functional link to the AR and RB pathways. Proc Natl Acad Sci U S A.  2013 Mar 19;110(12):4616-21 PMID: 23487765.

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Zhang K, Li Z, Jaiswal M, Bayat V, Xiong B, Sandoval H, Charng WL, David G, Haueter C, Yamamoto S, Graham BH, Bellen HJ.  The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. J Cell Biol.  2013 Mar 18;200(6):807-20 PMID: 23509070.

Zhao H, Jin G, Cui K, Ren D, Liu T, Chen P, Wong S, Li F, Fan Y, Rodriguez A, Chang J, Wong ST.  Novel modeling of cancer cell signaling pathways enables systematic drug repositioning for distinct breast cancer metastases. Cancer Res.  2013 Oct 15;73(20):6149-63 PMID: 24097821.

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Zhu L, Yang Y, Xu P, Zou F, Yan X, Liao L, Xu J, O'Malley BW, Xu Y.  EndocrinologySteroid receptor coactivator-1 mediates estrogenic actions to prevent body weight gain in female mice. Endocrinology. 2013 Jan;154(1):150-8 PMID: 23211707.