• Home
  • News
  • Calendar
  • About DF/HCC
  • Membership
  • Visitor Center

James F. Gusella, PhD

Publications

  • 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.Am J Hum Genet. 2014 Apr 16.
    24746958
  • Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF.Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.Am J Hum Genet. 2013 Mar 7;92(3):375-86.
    23472757
  • Chen X, Shen Y, Gao Y, Zhao H, Sheng X, Zou J, Lip V, Xie H, Guo J, Shao H, Bao Y, Shen J, Niu B, Gusella JF, Wu BL, Zhang T.Detection of copy number variants reveals association of cilia genes with neural tube defects.PLoS ONE. 2013;8(1):e54492.
    23349908
  • 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.N Engl J Med. 2012 Dec 6;367(23):2226-32.
    23215558
  • Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR.Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.Hum Mol Genet. 2012 Dec 15;21(24):5239-45.
    22949514
  • 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, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF.Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.Am J Hum Genet. 2012 Jul 13;91(1):56-72.
    22770980
  • Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC.WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.Am J Hum Genet. 2010 Oct 8;87(4):465-79.
    20887964
  • Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF, Pitteloud N.Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15140-4.
    20696889
  • Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL, .Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47.
    20468056
  • Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT, .Clinical Genetic Testing for Patients With Autism Spectrum Disorders.Pediatrics. 2010 Apr;125(4):e727-35.
    20231187
  • Lee JM, Zhang J, Su AI, Walker JR, Wiltshire T, Kang K, Dragileva E, Gillis T, Lopez ET, Boily MJ, Cyr M, Kohane I, Gusella JF, Macdonald ME, Wheeler VC.A novel approach to investigate tissue-specific trinucleotide repeat instability.BMC Syst Biol. 2010 Mar 19;4(1):29.
    20302627
  • Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O'Leary MC, Gusella JF.Monozygotic twins discordant for neurofibromatosis 1.Am J Med Genet A. 2010 Mar;152A(3):601-6.
    20186797
  • Saydam O, Shen Y, WĂźrdinger T, Senol O, Boke E, James MF, Tannous BA, Stemmer-Rachamimov AO, Yi M, Stephens RM, Fraefel C, Gusella JF, Krichevsky AM, Breakefield XO.Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway.Mol Cell Biol. 2009 Nov;29(21):5923-40.
    19703993
  • Shen Y, Nunes F, Stemmer-Rachamimov A, James M, Mohapatra G, Plotkin S, Betensky RA, Engler DA, Roy J, Ramesh V, Gusella JF.Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas.BMC Med Genomics. 2009;2:42.
    19589153
  • James MF,Han S,Polizzano C,Plotkin SR,Manning BD,Stemmer-Rachamimov AO,Gusella JF,Ramesh V.NF2/Merlin is a Novel Negative Regulator of mTOR Complex 1 and Activation of mTORC1 is Associated with Meningioma and Schwannoma Growth.Mol Cell Biol. 2009 Aug;29(15):4250-61.
    19451225
  • LaFemina J,Roberts PA,Hung YP,Gusella JF,Sahani D,Fernandez-del Castillo C,Warshaw AL,Thayer SP.Identification of a novel kindred with familial pancreatitis and pancreatic cancer.Pancreatology. 2009;9(3):273-9.
    19407482
  • Latourelle JC,Sun M,Lew MF,Suchowersky O,Klein C,Golbe LI,Mark MH,Growdon JH,Wooten GF,Watts RL,Guttman M,Racette BA,Perlmutter JS,Ahmed A,Shill HA,Singer C,Goldwurm S,Pezzoli G,Zini M,Saint-Hilaire MH,Hendricks AE,Williamson S,Nagle MW,Wilk JB,Massood T,Huskey KW,Laramie JM,DeStefano AL,Baker KB,Itin I,Litvan I,Nicholson G,Corbett A,Nance M,Drasby E,Isaacson S,Burn DJ,Chinnery PF,Pramstaller PP,Al-hinti J,Moller AT,Ostergaard K,Sherman SJ,Roxburgh R,Snow B,Slevin JT,Cambi F,Gusella JF,Myers RH.The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.BMC Med. 2008;6:32.
    18986508
  • Kim HG,Kurth I,Lan F,Meliciani I,Wenzel W,Eom SH,Kang GB,Rosenberger G,Tekin M,Ozata M,Bick DP,Sherins RJ,Walker SL,Shi Y,Gusella JF,Layman LC.Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.Am J Hum Genet. 2008 Oct;83(4):511-9.
    18834967
  • James MF, Lelke JM, Maccollin M, Plotkin SR, Stemmer-Rachamimov AO, Ramesh V, Gusella JF.Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth.Neurobiol Dis. 2008 Feb;29(2):278-92.
    17962031
  • Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL.Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.Clin Chem. 2007 Dec;53(12):2051-9.
    17901113
  • Beyer KS, Beauchamp RL, Lee MF, Gusella JF, Naar AM, Ramesh V.Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation.J Biol Chem. 2007 Nov 2;282(44):32152-7.
    17848560
  • Lee JM, Ivanova EV, Seong IS, Cashorali T, Kohane I, Gusella JF, MacDonald ME.Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.PLoS Genet. 2007 Aug;3(8):e135.
    17708681
  • Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA.A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.Genomics. 2007 Sep;90(3):389-96.
    17644305
  • Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL.NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.PLoS Genet. 2007 May 25;3(5):e80.
    17530927
  • Leach NT, Sun Y, Michaud S, Zheng Y, Ligon KL, Ligon AH, Sander T, Korf BR, Lu W, Harris DJ, Gusella JF, Maas RL, Quade BJ, Cole AJ, Kelz MB, Morton CC.Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.Am J Hum Genet. 2007 Apr;80(4):792-9.
    17357084
  • Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL.Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.Am J Hum Genet. 2007 Apr;80(4):616-32.
    17357069
  • Gusella JF, Macdonald M.Genetic criteria for Huntington's disease pathogenesis.Brain Res Bull. 2007 Apr 30;72(2-3):78-82.
    17352930
  • Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH.Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.Am J Med Genet A. 2007 Mar 15;143(6):558-63.
    17304550
  • Hims MM, Ibrahim el C, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA.Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.J Mol Med. 2007 Feb;85(2):149-61.
    17206408
  • Wilk JB, Tobin JE, Suchowersky O, Shill HA, Klein C, Wooten GF, Lew MF, Mark MH, Guttman M, Watts RL, Singer C, Growdon JH, Latourelle JC, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker KB, Giroux ML, Litvan I, Pramstaller PP, Nicholson G, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI.Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study.Neurology. 2006 Dec 26;67(12):2206-10.
    17190945
  • Andresen JM, Gayán J, Djoussé L, Roberts S, Brocklebank D, Cherny SS, , , Cardon LR, Gusella JF, Macdonald ME, Myers RH, Housman DE, Wexler NS.The Relationship Between CAG Repeat Length and Age of Onset Differs for Huntington's Disease Patients with Juvenile Onset or Adult Onset.Ann Hum Genet. 2007 May;71(Pt 3):295-301.
    17181545
  • Kim HG, Higgins AW, Herrick SR, Kishikawa S, Nicholson L, Kutsche K, Ligon AH, Harris DJ, Macdonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF.Candidate loci for Zimmermann-Laband syndrome at 3p14.3.Am J Med Genet A. 2007 Jan 15;143(2):107-11.
    17163523
  • Kishikawa S, Li JL, Gillis T, Hakky MM, Warby S, Hayden M, MacDonald ME, Myers RH, Gusella JF.Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease.Neurobiol Dis. 2006 Nov;24(2):280-5.
    16962786
  • Pichler I, Marroni F, Volpato CB, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP.Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.Am J Hum Genet. 2006 Oct;79(4):716-23.
    16960808
  • Zeng W, Gillis T, Hakky M, Djoussé L, Myers RH, MacDonald ME, Gusella JF.Genetic analysis of the GRIK2 modifier effect in Huntington's disease.BMC Neurosci. 2006;7:62.
    16959037
  • Gusella JF, Macdonald ME.Huntington's disease: seeing the pathogenic process through a genetic lens.Trends Biochem Sci. 2006 Sep;31(9):533-40. Review.
    16829072
  • Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gomez-Tortosa E, Garcia CA, Suchowersky O, Klimek ML, Trent RJ, McCusker E, Novelletto A, Frontali M, Paulsen JS, Jones R, Ashizawa T, Lazzarini A, Wheeler VC, Prakash R, Xu G, Djousse L, Mysore JS, Gillis T, Hakky M, Cupples LA, Saint-Hilaire MH, Cha JH, Hersch SM, Penney JB, Harrison MB, Perlman SL, Zanko A, Abramson RK, Lechich AJ, Duckett A, Marder K, Conneally PM, Gusella JF, MacDonald ME, Myers RH.Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.BMC Med Genet. 2006;7:71.
    16914060
  • Lee MF, Beauchamp RL, Beyer KS, Gusella JF, Ramesh V.Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation.Biochem Biophys Res Commun. 2006 Sep 29;348(3):826-31.
    16899217
  • Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF.Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.Arch Neurol. 2006 Jun;63(6):826-32.
    16769863
  • Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew M, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire M, DeStefano AL, Prakash R, Tobin S, Williamson J, Suchowersky O, Labell N, Growdon BN, Singer C, Watts R, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery P, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A.BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.Neurology. 2005 Dec 13;65(11):1823-5.
    16344533
  • Nunes F, Shen Y, Niida Y, Beauchamp R, Stemmer-Rachamimov AO, Ramesh V, Gusella J, MacCollin M.Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma.Cancer Genet Cytogenet. 2005 Oct 15;162(2):135-9.
    16213361
  • Manchanda N, Lyubimova A, Ho HY, James MF, Gusella JF, Ramesh N, Snapper SB, Ramesh V.The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function.J Biol Chem. 2005 Apr 1;280(13):12517-22.
    15699051
  • Wiederhold T, Lee MF, James M, Neujahr R, Smith N, Murthy A, Hartwig J, Gusella JF, Ramesh V.Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2.Oncogene. 2004 Nov 18;23(54):8815-25.
    15467741
  • Jacoby LB, MacCollin M, Parry DM, Kluwe L, Lynch J, Jones D, Gusella JF.Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis.Neurogenetics. 1999 Apr;2(2):101-8.
    10369886
  • Kluwe L, Mautner V, Parry DM, Jacoby LB, Baser M, Gusella J, Davis K, Stavrou D, MacCollin M.The parental origin of new mutations in neurofibromatosis 2.Neurogenetics. 2000 Sep;3(1):17-24.
    11085592
  • Castells A, Ino Y, Louis DN, Ramesh V, Gusella JF, Rustgi AK.Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer.Gastroenterology. 1999 Oct;117(4):831-7.
    10500065
  • Stemmer-Rachamimov AO, Nielsen GP, Rosenberg AE, Louis DN, Jones D, Ramesh V, Gusella JF, Jacoby LB.The NF2 gene and merlin protein in human osteosarcomas.Neurogenetics. 1998 Dec;2(1):73-4.
    9933303
  • Stemmer-Rachamimov AO, Ino Y, Lim ZY, Jacoby LB, MacCollin M, Gusella JF, Ramesh V, Louis DN.Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2.J Neuropathol Exp Neurol. 1998 Dec;57(12):1164-7.
    9862639
  • McClatchey AI, Saotome I, Mercer K, Crowley D, Gusella JF, Bronson RT, Jacks T.Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors.Genes Dev. 1998 Apr 15;12(8):1121-33.
    9553042
  • Murthy A, Gonzalez-Agosti C, Cordero E, Pinney D, Candia C, Solomon F, Gusella J, Ramesh V.NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.J Biol Chem. 1998 Jan 16;273(3):1273-6.
    9430655
  • Stemmer-Rachamimov AO, Xu L, Gonzalez-Agosti C, Burwick JA, Pinney D, Beauchamp R, Jacoby LB, Gusella JF, Ramesh V, Louis DN.Universal absence of merlin, but not other ERM family members, in schwannomas.Am J Pathol. 1997 Dec;151(6):1649-54.
    9403715
  • Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J, MacCollin M.Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.Am J Hum Genet. 1997 Dec;61(6):1293-302.
    9399891
  • McClatchey AI, Saotome I, Ramesh V, Gusella JF, Jacks T.The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation.Genes Dev. 1997 May 15;11(10):1253-65.
    9171370
  • The I, Hannigan GE, Cowley GS, Reginald S, Zhong Y, Gusella JF, Hariharan IK, Bernards A.Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.Science. 1997 May 2;276(5313):791-4.
    9115203
  • Gonzalez-Agosti C, Xu L, Pinney D, Beauchamp R, Hobbs W, Gusella J, Ramesh V.The merlin tumor suppressor localizes preferentially in membrane ruffles.Oncogene. 1996 Sep 19;13(6):1239-47.
    8808698