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James (Jim) F. Gusella, PhD - Publications

Affiliations: 
Genetics Harvard Medical School, Boston, MA, United States 
Area:
Huntington's Disease
Website:
http://www2.massgeneral.org/chgr/faculty_gusella.htm

299 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nature Neuroscience. PMID 26829649 DOI: 10.1038/nn.4235  0.52
2015 Hoss AG, Labadorf A, Latourelle JC, Kartha VK, Hadzi TC, Gusella JF, MacDonald ME, Chen JF, Akbarian S, Weng Z, Vonsattel JP, Myers RH. miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement. Bmc Medical Genomics. 8: 10. PMID 25889241 DOI: 10.1186/s12920-015-0083-3  0.48
2015 Ramos EM, Gillis T, Mysore JS, Lee JM, Alonso I, Gusella JF, Smoller JW, Sklar P, MacDonald ME, Perlis RH. Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder. Bipolar Disorders. 17: 403-8. PMID 25726852 DOI: 10.1111/bdi.12289  0.52
2015 Ramos EM, Gillis T, Mysore JS, Lee JM, Gögele M, D'Elia Y, Pichler I, Sequeiros J, Pramstaller PP, Gusella JF, MacDonald ME, Alonso I. Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 168: 135-43. PMID 25656686 DOI: 10.1002/ajmg.b.32289  0.52
2015 Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, ... ... Gusella JF, et al. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Human Molecular Genetics. 24: 2375-89. PMID 25574029 DOI: 10.1093/hmg/ddv004  0.52
2015 Lee JM, Wheeler VC, Chao MJ, Vonsattel JPG, Pinto RM, Lucente D, Abu-Elneel K, Ramos EM, Mysore JS, Gillis T, MacDonald ME, Gusella JF, Harold D, Stone TC, Escott-Price V, et al. Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease Cell. 162: 516-526. DOI: 10.1016/j.cell.2015.07.003  0.52
2015 Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge JC, Gusella JF, Sanders SJ, Talkowski ME. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation American Journal of Human Genetics. 97: 170-176. DOI: 10.1016/j.ajhg.2015.05.012  0.52
2015 Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA, Witwicki R, Didelot G, Van Der Werf I, ... ... Gusella JF, et al. A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology American Journal of Human Genetics. 96: 784-796. DOI: 10.1016/j.ajhg.2015.04.002  0.52
2015 Beauchamp RL, James MF, DeSouza PA, Wagh V, Zhao WN, Jordan JT, Stemmer-Rachamimov A, Plotkin SR, Gusella JF, Haggarty SJ, Ramesh V. A high-throughput kinome screen reveals serum/glucocorticoidregulated kinase 1 as a therapeutic target for NF2-deficient meningiomas Oncotarget. 6: 16981-16997.  0.52
2014 Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, ... Gusella JF, et al. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proceedings of the National Academy of Sciences of the United States of America. 111: 17953-8. PMID 25472840 DOI: 10.1073/pnas.1417438111  0.52
2014 Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, ... Gusella JF, et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proceedings of the National Academy of Sciences of the United States of America. 111: E4468-77. PMID 25294932 DOI: 10.1073/pnas.1405266111  0.52
2014 Brand H, Pillalamarri V, Collins RL, Eggert S, O'Dushlaine C, Braaten EB, Stone MR, Chambert K, Doty ND, Hanscom C, Rosenfeld JA, Ditmars H, Blais J, Mills R, Lee C, ... Gusella JF, et al. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. American Journal of Human Genetics. 95: 454-61. PMID 25279985 DOI: 10.1016/j.ajhg.2014.09.005  0.52
2014 Gusella JF, MacDonald ME, Lee JM. Genetic modifiers of Huntington's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 29: 1359-65. PMID 25154728 DOI: 10.1002/mds.26001  0.52
2014 Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. American Journal of Human Genetics. 94: 870-83. PMID 24906019 DOI: 10.1016/j.ajhg.2014.05.004  0.52
2014 Galkina EI, Shin A, Coser KR, Shioda T, Kohane IS, Seong IS, Wheeler VC, Gusella JF, Macdonald ME, Lee JM. HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes. Plos One. 9: e95556. PMID 24751919 DOI: 10.1371/journal.pone.0095556  0.52
2014 Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC. Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. American Journal of Human Genetics. 94: 695-709. PMID 24746958 DOI: 10.1016/j.ajhg.2014.03.020  0.52
2014 Talkowski ME, Minikel EV, Gusella JF. Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. Harvard Review of Psychiatry. 22: 65-75. PMID 24614762 DOI: 10.1097/HRP.0000000000000002  0.52
2014 Hoss AG, Kartha VK, Dong X, Latourelle JC, Dumitriu A, Hadzi TC, Macdonald ME, Gusella JF, Akbarian S, Chen JF, Weng Z, Myers RH. MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis. Plos Genetics. 10: e1004188. PMID 24586208 DOI: 10.1371/journal.pgen.1004188  0.52
2014 Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, et al. Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Human Molecular Genetics. 23: 2005-22. PMID 24271013 DOI: 10.1093/hmg/ddt596  0.52
2014 Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, ... ... Gusella JF, et al. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. European Journal of Human Genetics : Ejhg. 22: 57-63. PMID 23632792 DOI: 10.1038/ejhg.2013.67  0.52
2014 Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, ... ... Gusella JF, et al. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Molecular Psychiatry. 19: 368-79. PMID 23587880 DOI: 10.1038/mp.2013.42  0.52
2013 Reid SJ, Patassini S, Handley RR, Rudiger SR, McLaughlan CJ, Osmand A, Jacobsen JC, Morton AJ, Weiss A, Waldvogel HJ, MacDonald ME, Gusella JF, Bawden CS, Faull RL, et al. Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates. Journal of Huntington's Disease. 2: 279-95. PMID 25062676 DOI: 10.3233/JHD-130067  0.52
2013 Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, ... ... Gusella JF, et al. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 14: 173-9. PMID 23644918 DOI: 10.1007/s10048-013-0364-y  0.52
2013 Lee JM, Galkina EI, Levantovsky RM, Fossale E, Anne Anderson M, Gillis T, Srinidhi Mysore J, Coser KR, Shioda T, Zhang B, Furia MD, Derry J, Kohane IS, Seong IS, Wheeler VC, ... Gusella JF, et al. Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy. Human Molecular Genetics. 22: 3227-38. PMID 23595883 DOI: 10.1093/hmg/ddt176  0.52
2013 Bahl S, Chiang C, Beauchamp RL, Neale BM, Daly MJ, Gusella JF, Talkowski ME, Ramesh V. Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Molecular Autism. 4: 5. PMID 23514105 DOI: 10.1186/2040-2392-4-5  0.52
2013 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. American Journal of Human Genetics. 92: 375-86. PMID 23472757 DOI: 10.1016/j.ajhg.2013.02.006  0.52
2013 Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG, Gécz J. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Human Molecular Genetics. 22: 1816-25. PMID 23376982 DOI: 10.1093/hmg/ddt035  0.52
2013 Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, Chiang C, Ernst C, Pereira S, Ordulu Z, Clericuzio C, Drautz JM, Rosenfeld JA, Shaffer LG, Velsher L, Pynn T, ... ... Gusella JF, et al. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Human Genetics. 132: 537-52. PMID 23354975 DOI: 10.1007/s00439-013-1263-x  0.52
2013 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, et al. Detection of copy number variants reveals association of cilia genes with neural tube defects. Plos One. 8: e54492. PMID 23349908 DOI: 10.1371/journal.pone.0054492  0.52
2013 Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, ... ... Gusella JF, et al. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American Journal of Human Genetics. 92: 210-20. PMID 23332918 DOI: 10.1016/j.ajhg.2012.12.011  0.52
2013 Ruderfer DM, Chambert K, Moran J, Talkowski M, Chen ES, Gigek C, Gusella JF, Blackwood DH, Corvin A, Gurling HM, Hultman CM, Kirov G, Magnusson P, O'Donovan MC, Owen MJ, et al. Mosaic copy number variation in schizophrenia. European Journal of Human Genetics : Ejhg. 21: 1007-11. PMID 23321615 DOI: 10.1038/ejhg.2012.287  0.52
2013 Pichler I, Schwienbacher C, Zanon A, Fuchsberger C, Serafin A, Facheris MF, Marroni F, Pattaro C, Shen Y, Tellgren-Roth C, Gyllensten U, Gusella JF, Hicks AA, Pramstaller PP. Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes. Journal of Molecular Neuroscience : Mn. 49: 600-5. PMID 23054586 DOI: 10.1007/s12031-012-9891-5  0.52
2012 Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, ... ... Gusella JF, et al. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. American Journal of Human Genetics. 91: 1128-34. PMID 23217328 DOI: 10.1016/j.ajhg.2012.10.016  0.52
2012 Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC. Clinical diagnosis by whole-genome sequencing of a prenatal sample. The New England Journal of Medicine. 367: 2226-32. PMID 23215558 DOI: 10.1056/NEJMoa1208594  0.52
2012 Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, ... ... Gusella JF, et al. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Archives of General Psychiatry. 69: 1238-46. PMID 23044507 DOI: 10.1001/archgenpsychiatry.2012.660  0.52
2012 Hadzi TC, Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Gillis T, Mysore JS, Gusella JF, MacDonald ME, Myers RH, Vonsattel JP. Assessment of cortical and striatal involvement in 523 Huntington disease brains. Neurology. 79: 1708-15. PMID 23035064 DOI: 10.1212/WNL.0b013e31826e9a5d  0.52
2012 Wray S, Self M, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, et al. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. Plos One. 7: e43099. PMID 22952635 DOI: 10.1371/journal.pone.0043099  0.52
2012 Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR. Expression of SMARCB1 (INI1) mutations in familial schwannomatosis. Human Molecular Genetics. 21: 5239-45. PMID 22949514 DOI: 10.1093/hmg/dds370  0.52
2012 Aziz NA, Roos RA, Gusella JF, Lee JM, Macdonald ME. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 79: 952; author reply 95. PMID 22927682 DOI: 10.1212/WNL.0b013e3182697986  0.52
2012 Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, ... ... Gusella JF, et al. Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset. Human Genetics. 131: 1833-40. PMID 22825315 DOI: 10.1007/s00439-012-1205-z  0.52
2012 Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, ... ... Gusella JF, et al. An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics. 21: 4314-24. PMID 22773735 DOI: 10.1093/hmg/dds264  0.52
2012 Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, ... ... Gusella JF, et al. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochemical and Biophysical Research Communications. 424: 404-8. PMID 22771793 DOI: 10.1016/j.bbrc.2012.06.120  0.52
2012 Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, ... ... Gusella JF, et al. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. American Journal of Human Genetics. 91: 56-72. PMID 22770980 DOI: 10.1016/j.ajhg.2012.05.005  0.52
2012 Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature. 485: 363-7. PMID 22596160 DOI: 10.1038/nature11091  0.52
2012 Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, ... ... Gusella JF, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 149: 525-37. PMID 22521361 DOI: 10.1016/j.cell.2012.03.028  0.52
2012 Hooli BV, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, Gusella JF, Moir R, Saunders AJ, Lange C, Tanzi RE, Bertram L. Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology. 78: 1250-7. PMID 22491860 DOI: 10.1212/WNL.0b013e3182515972  0.52
2012 Lo Sardo V, Zuccato C, Gaudenzi G, Vitali B, Ramos C, Tartari M, Myre MA, Walker JA, Pistocchi A, Conti L, Valenza M, Drung B, Schmidt B, Gusella J, Zeitlin S, et al. An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin. Nature Neuroscience. 15: 713-21. PMID 22466506 DOI: 10.1038/nn.3080  0.52
2012 James MF, Stivison E, Beauchamp R, Han S, Li H, Wallace MR, Gusella JF, Stemmer-Rachamimov AO, Ramesh V. Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell types. Molecular Cancer Research : McR. 10: 649-59. PMID 22426462 DOI: 10.1158/1541-7786.MCR-11-0425-T  0.52
2012 Ramos EM, Keagle P, Gillis T, Lowe P, Mysore JS, Leclerc AL, Ratti A, Ticozzi N, Gellera C, Gusella JF, Silani V, Alonso I, Brown RH, MacDonald ME, Landers JE. Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 13: 265-9. PMID 22409360 DOI: 10.3109/17482968.2011.653573  0.52
2012 Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, ... ... Gusella JF, et al. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nature Genetics. 44: 390-7, S1. PMID 22388000 DOI: 10.1038/ng.2202  0.52
2012 Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, ... ... Gusella JF, et al. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. American Journal of Human Genetics. 90: 434-44. PMID 22387017 DOI: 10.1016/j.ajhg.2012.01.005  0.52
2012 Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, ... ... Gusella JF, et al. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 78: 690-5. PMID 22323755 DOI: 10.1212/WNL.0b013e318249f683  0.52
2012 Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, ... ... Gusella JF, et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Human Mutation. 33: 728-40. PMID 22290657 DOI: 10.1002/humu.22037  0.52
2012 Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, et al. The cell adhesion gene PVRL3 is associated with congenital ocular defects. Human Genetics. 131: 235-50. PMID 21769484 DOI: 10.1007/s00439-011-1064-z  0.52
2011 Wakabayashi-Ito N, Doherty OM, Moriyama H, Breakefield XO, Gusella JF, O'Donnell JM, Ito N. Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism. Plos One. 6: e26183. PMID 22022556 DOI: 10.1371/journal.pone.0026183  0.52
2011 Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, ... ... Gusella JF, et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics. 89: 551-63. PMID 21981781 DOI: 10.1016/j.ajhg.2011.09.011  0.52
2011 Yu Y, Zhu H, Miller DT, Gusella JF, Platt OS, Wu BL, Shen Y. Age- and gender-dependent obesity in individuals with 16p11.2 deletion. Journal of Genetics and Genomics = Yi Chuan Xue Bao. 38: 403-9. PMID 21930099 DOI: 10.1016/j.jgg.2011.08.003  0.52
2011 Fossale E, Seong IS, Coser KR, Shioda T, Kohane IS, Wheeler VC, Gusella JF, MacDonald ME, Lee JM. Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. Human Molecular Genetics. 20: 4258-67. PMID 21840924 DOI: 10.1093/hmg/ddr355  0.52
2011 Pankratz N, Dumitriu A, Hetrick KN, Sun M, Latourelle JC, Wilk JB, Halter C, Doheny KF, Gusella JF, Nichols WC, Myers RH, Foroud T, DeStefano AL. Copy number variation in familial Parkinson disease. Plos One. 6: e20988. PMID 21829596 DOI: 10.1371/journal.pone.0020988  0.52
2011 Latourelle JC, Hendricks AE, Pankratz N, Wilk JB, Halter C, Nichols WC, Gusella JF, Destefano AL, Myers RH, Foroud T. Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 26: 2039-44. PMID 21661047 DOI: 10.1002/mds.23781  0.52
2011 Myre MA, Lumsden AL, Thompson MN, Wasco W, MacDonald ME, Gusella JF. Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum. Plos Genetics. 7: e1002052. PMID 21552328 DOI: 10.1371/journal.pgen.1002052  0.52
2011 Jacobsen JC, Gregory GC, Woda JM, Thompson MN, Coser KR, Murthy V, Kohane IS, Gusella JF, Seong IS, MacDonald ME, Shioda T, Lee JM. HD CAG-correlated gene expression changes support a simple dominant gain of function. Human Molecular Genetics. 20: 2846-60. PMID 21536587 DOI: 10.1093/hmg/ddr195  0.52
2011 Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. American Journal of Human Genetics. 88: 469-81. PMID 21473983 DOI: 10.1016/j.ajhg.2011.03.013  0.52
2011 Shen Y, Chen X, Wang L, Guo J, Shen J, An Y, Zhu H, Zhu Y, Xin R, Bao Y, Gusella JF, Zhang T, Wu BL. Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 225-32. PMID 21302351 DOI: 10.1002/ajmg.b.31147  0.52
2011 Shaw ND, Seminara SB, Welt CK, Au MG, Plummer L, Hughes VA, Dwyer AA, Martin KA, Quinton R, Mericq V, Merino PM, Gusella JF, Crowley WF, Pitteloud N, Hall JE. Expanding the phenotype and genotype of female GnRH deficiency. The Journal of Clinical Endocrinology and Metabolism. 96: E566-76. PMID 21209029 DOI: 10.1210/jc.2010-2292  0.52
2011 Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK. Meclizine is neuroprotective in models of Huntington's disease. Human Molecular Genetics. 20: 294-300. PMID 20977989 DOI: 10.1093/hmg/ddq464  0.52
2011 Engler D, Shen Y, Gusella J, Betensky RA. Comparison of clinical subgroup aCGH profiles through pseudolikelihood ratio tests Statistical Applications in Genetics and Molecular Biology. 10. DOI: 10.2202/1544-6115.1407  0.52
2010 McDaniel S, Minnier J, Betensky RA, Mohapatra G, Shen Y, Gusella JF, Louis DN, Cai T. Assessing Population Level Genetic Instability via Moving Average. Statistics in Biosciences. 2: 120-136. PMID 22866169 DOI: 10.1007/s12561-010-9028-8  0.52
2010 Biffi A, Plourde A, Shen Y, Onofrio R, Smith EE, Frosch M, Prada CM, Gusella J, Greenberg SM, Rosand J. Screening for familial APP mutations in sporadic cerebral amyloid angiopathy. Plos One. 5: e13949. PMID 21085603 DOI: 10.1371/journal.pone.0013949  0.52
2010 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, ... ... Gusella JF, et al. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Journal of Human Genetics. 87: 465-79. PMID 20887964 DOI: 10.1016/j.ajhg.2010.08.018  0.52
2010 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. Proceedings of the National Academy of Sciences of the United States of America. 107: 15140-4. PMID 20696889 DOI: 10.1073/pnas.1009622107  0.52
2010 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, ... ... Gusella JF, et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 937-47. PMID 20468056 DOI: 10.1002/ajmg.b.31063  0.52
2010 Perlis RH, Smoller JW, Mysore J, Sun M, Gillis T, Purcell S, Rietschel M, Nöthen MM, Witt S, Maier W, Iosifescu DV, Sullivan P, Rush AJ, Fava M, Breiter H, ... ... Gusella J, et al. Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. The American Journal of Psychiatry. 167: 574-9. PMID 20360314 DOI: 10.1176/appi.ajp.2009.09070973  0.52
2010 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 Systems Biology. 4: 29. PMID 20302627 DOI: 10.1186/1752-0509-4-29  0.52
2010 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, ... ... Gusella JF, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 125: e727-35. PMID 20231187 DOI: 10.1542/peds.2009-1684  0.52
2010 Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O'Leary MC, Gusella JF. Monozygotic twins discordant for neurofibromatosis 1. American Journal of Medical Genetics. Part A. 152: 601-6. PMID 20186797 DOI: 10.1002/ajmg.a.33271  0.52
2010 Gritli S, Ben Salah M, Shili A, Robson CD, Ferjaoui M, Hendaoui L, Belhani A, Jilani SB, Gusella JF, Macrae CA. Association of the long QT syndrome With goiter and deafness. The American Journal of Cardiology. 105: 681-6. PMID 20185017 DOI: 10.1016/j.amjcard.2009.10.034  0.52
2010 Jacobsen JC, Bawden CS, Rudiger SR, McLaughlan CJ, Reid SJ, Waldvogel HJ, MacDonald ME, Gusella JF, Walker SK, Kelly JM, Webb GC, Faull RL, Rees MI, Snell RG. An ovine transgenic Huntington's disease model. Human Molecular Genetics. 19: 1873-82. PMID 20154343 DOI: 10.1093/hmg/ddq063  0.52
2010 Shen Y, Wu BL, Gusella JF. Large-scale medical resequencing for X-linked mental retardation. Clinical Chemistry. 56: 339-41. PMID 20040618 DOI: 10.1373/clinchem.2009.135020  0.52
2010 Seong IS, Woda JM, Song JJ, Lloret A, Abeyrathne PD, Woo CJ, Gregory G, Lee JM, Wheeler VC, Walz T, Kingston RE, Gusella JF, Conlon RA, MacDonald ME. Huntingtin facilitates polycomb repressive complex 2. Human Molecular Genetics. 19: 573-83. PMID 19933700 DOI: 10.1093/hmg/ddp524  0.52
2010 Ernst C, Morton CC, Gusella JF. Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 13: 527-8. PMID 19887018 DOI: 10.1017/S1461145709990885  0.52
2009 Crowley WF, Gusella JF. Changing models of biomedical research. Science Translational Medicine. 1: 1cm1. PMID 20368150 DOI: 10.1126/scitranslmed.3000124  0.52
2009 Weiss LA, Arking DE, Daly MJ, Chakravarti A, Brune CW, West K, O'Connor A, Hilton G, Tomlinson RL, West AB, Cook EH, Green T, Chang SC, Gabriel S, Gates C, ... ... Gusella J, et al. A genome-wide linkage and association scan reveals novel loci for autism Nature. 461: 802-808. PMID 19812673 DOI: 10.1038/nature08490  0.52
2009 Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T. Genomewide association study for onset age in Parkinson disease. Bmc Medical Genetics. 10: 98. PMID 19772629 DOI: 10.1186/1471-2350-10-98  0.52
2009 Gusella JF, MacDonald ME. Huntington's disease: the case for genetic modifiers. Genome Medicine. 1: 80. PMID 19725930 DOI: 10.1186/gm80  0.52
2009 Saydam O, Shen Y, Würdinger 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. Molecular and Cellular Biology. 29: 5923-40. PMID 19703993 DOI: 10.1128/MCB.00332-09  0.52
2009 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 Medical Genomics. 2: 42. PMID 19589153 DOI: 10.1186/1755-8794-2-42  0.52
2009 Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Wheeler V, MacDonald ME, Gusella JF, Myers RH. Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). American Journal of Medical Genetics. Part A. 149: 1375-81. PMID 19507258 DOI: 10.1002/ajmg.a.32901  0.52
2009 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. Molecular and Cellular Biology. 29: 4250-61. PMID 19451225 DOI: 10.1128/MCB.01581-08  0.52
2009 LaFemina J, Roberts PA, Hung YP, Gusella JF, Sahani D, Fernández-del Castillo C, Warshaw AL, Thayer SP. Identification of a novel kindred with familial pancreatitis and pancreatic cancer. Pancreatology : Official Journal of the International Association of Pancreatology (Iap) ... [Et Al.]. 9: 273-9. PMID 19407482 DOI: 10.1159/000201553  0.52
2009 Gasic GP, Smoller JW, Perlis RH, Sun M, Lee S, Kim BW, Lee MJ, Holt DJ, Blood AJ, Makris N, Kennedy DK, Hoge RD, Calhoun J, Fava M, Gusella JF, et al. BDNF, relative preference, and reward circuitry responses to emotional communication. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 762-81. PMID 19388013 DOI: 10.1002/ajmg.b.30944  0.52
2009 Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Human Genetics. 124: 593-605. PMID 18985386 DOI: 10.1007/s00439-008-0582-9  0.52
2009 Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, ... ... Gusella JF, et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. Journal of Medical Genetics. 46: 242-8. PMID 18805830 DOI: 10.1136/jmg.2008.059907  0.52
2008 McQueen M, Maccollin M, Gusella J, Plotkin SR. Patient and physician attitudes regarding clinical trials in neurofibromatosis 1 Journal of Neuroscience Nursing. 40: 341-345. PMID 19170300 DOI: 10.1097/01376517-200812000-00005  0.52
2008 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, ... ... Gusella JF, et al. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. Bmc Medicine. 6: 32. PMID 18986508 DOI: 10.1186/1741-7015-6-32  0.52
2008 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, et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Journal of Human Genetics. 83: 511-9. PMID 18834967 DOI: 10.1016/j.ajhg.2008.09.005  0.52
2008 McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, ... ... Gusella JF, et al. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 1596-601. PMID 18649400 DOI: 10.1002/mds.22186  0.52
2008 DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, ... ... Gusella JF, et al. Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Human Genetics. 124: 95-9. PMID 18587682 DOI: 10.1007/s00439-008-0526-4  0.52
2008 Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, ... ... Gusella JF, et al. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology. 71: 28-34. PMID 18509094 DOI: 10.1212/01.wnl.0000304051.01650.23  0.52
2008 Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, ... ... Gusella JF, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature Genetics. 40: 776-81. PMID 18469813 DOI: 10.1038/ng.149  0.52
2008 Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. American Journal of Human Genetics. 82: 712-22. PMID 18319076 DOI: 10.1016/j.ajhg.2008.01.011  0.52
2008 Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, ... ... Gusella JF, et al. Association between microdeletion and microduplication at 16p11.2 and autism. The New England Journal of Medicine. 358: 667-75. PMID 18184952 DOI: 10.1056/NEJMoa075974  0.52
2008 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. Neurobiology of Disease. 29: 278-92. PMID 17962031 DOI: 10.1016/j.nbd.2007.09.002  0.52
2008 Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GAP, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, et al. Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011) American Journal of Human Genetics. 83: 425-427. DOI: 10.1016/j.ajhg.2008.08.011  0.52
2007 Gusella JF, MacDonald ME. Expanding the notion of disease in Huntington's disease. Biological Psychiatry. 62: 1340. PMID 18054536 DOI: 10.1016/j.biopsych.2007.09.009  0.52
2007 Abo-Dalo B, Kim HG, Roes M, Stefanova M, Higgins A, Shen Y, Mundlos S, Quade BJ, Gusella JF, Kutsche K. Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. American Journal of Medical Genetics. Part A. 143: 2668-74. PMID 17937436 DOI: 10.1002/ajmg.a.32034  0.52
2007 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. Clinical Chemistry. 53: 2051-9. PMID 17901113 DOI: 10.1373/clinchem.2007.090290  0.52
2007 Beyer KS, Beauchamp RL, Lee MF, Gusella JF, Näär AM, Ramesh V. Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation. The Journal of Biological Chemistry. 282: 32152-7. PMID 17848560 DOI: 10.1074/jbc.M706592200  0.52
2007 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 Genetics. 3: e135. PMID 17708681 DOI: 10.1371/journal.pgen.0030135  0.52
2007 Wheeler VC, Persichetti F, McNeil SM, Mysore JS, Mysore SS, MacDonald ME, Myers RH, Gusella JF, Wexler NS. Factors associated with HD CAG repeat instability in Huntington disease. Journal of Medical Genetics. 44: 695-701. PMID 17660463 DOI: 10.1136/jmg.2007.050930  0.52
2007 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. 90: 389-96. PMID 17644305 DOI: 10.1016/j.ygeno.2007.05.012  0.52
2007 Quintero-Rivera F, Leach NT, de la Chapelle A, Gusella JF, Morton CC, Harris DJ. Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? American Journal of Medical Genetics. Part A. 143: 1796-8. PMID 17568424 DOI: 10.1002/ajmg.a.31799  0.52
2007 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, ... ... Gusella JF, et al. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. Plos Genetics. 3: e80. PMID 17530927 DOI: 10.1371/journal.pgen.0030080  0.52
2007 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, et al. Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. American Journal of Human Genetics. 80: 792-9. PMID 17357084 DOI: 10.1086/513019  0.52
2007 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, ... ... Gusella JF, et al. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. American Journal of Human Genetics. 80: 616-32. PMID 17357069 DOI: 10.1086/512735  0.52
2007 Gusella JF, Macdonald M. Genetic criteria for Huntington's disease pathogenesis. Brain Research Bulletin. 72: 78-82. PMID 17352930 DOI: 10.1016/j.brainresbull.2006.10.014  0.52
2007 Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH. Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. American Journal of Medical Genetics. Part A. 143: 558-63. PMID 17304550 DOI: 10.1002/ajmg.a.31618  0.52
2007 Hims MM, Ibrahim EC, 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. Journal of Molecular Medicine (Berlin, Germany). 85: 149-61. PMID 17206408 DOI: 10.1007/s00109-006-0137-2  0.52
2007 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. Annals of Human Genetics. 71: 295-301. PMID 17181545 DOI: 10.1111/j.1469-1809.2006.00335.x  0.52
2007 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. American Journal of Medical Genetics. Part A. 143: 107-11. PMID 17163523 DOI: 10.1002/ajmg.a.31544  0.52
2006 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, ... ... Gusella JF, et al. Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology. 67: 2206-10. PMID 17190945 DOI: 10.1212/01.wnl.0000249149.22407.d1  0.52
2006 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. Neurobiology of Disease. 24: 280-5. PMID 16962786 DOI: 10.1016/j.nbd.2006.07.008  0.52
2006 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. American Journal of Human Genetics. 79: 716-23. PMID 16960808 DOI: 10.1086/507875  0.52
2006 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 Neuroscience. 7: 62. PMID 16959037 DOI: 10.1186/1471-2202-7-62  0.52
2006 Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gómez-Tortosa E, García CA, Suchowersky O, Klimek ML, ... ... Gusella JF, et al. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. Bmc Medical Genetics. 7: 71. PMID 16914060 DOI: 10.1186/1471-2350-7-71  0.52
2006 Lee MF, Beauchamp RL, Beyer KS, Gusella JF, Ramesh V. Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation. Biochemical and Biophysical Research Communications. 348: 826-31. PMID 16899217 DOI: 10.1016/j.bbrc.2006.07.126  0.52
2006 Gusella JF, MacDonald ME. Huntington's disease: seeing the pathogenic process through a genetic lens. Trends in Biochemical Sciences. 31: 533-40. PMID 16829072 DOI: 10.1016/j.tibs.2006.06.009  0.52
2006 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, ... ... Gusella JF, et al. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Archives of Neurology. 63: 826-32. PMID 16769863 DOI: 10.1001/archneur.63.6.826  0.52
2005 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, ... ... Gusella JF, et al. BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. Neurology. 65: 1823-5. PMID 16344533 DOI: 10.1212/01.wnl.0000187075.81589.fd  0.52
2005 Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, MacDonald ME. HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. Human Molecular Genetics. 14: 2871-80. PMID 16115812 DOI: 10.1093/hmg/ddi319  0.52
2005 Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. Journal of Medical Genetics. 42: 666-72. PMID 16061567 DOI: 10.1136/jmg.2004.026989  0.52
2005 Karamohamed S, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Liu J, Shoemaker CM, Wilk JB, ... ... Gusella JF, et al. Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 1188-91. PMID 15966003 DOI: 10.1002/mds.20515  0.52
2005 Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. American Journal of Human Genetics. 77: 16-26. PMID 15871139 DOI: 10.1086/431216  0.52
2005 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. The Journal of Biological Chemistry. 280: 12517-22. PMID 15699051 DOI: 10.1074/jbc.C400583200  0.52
2005 Wang J, Gines S, MacDonald ME, Gusella JF. Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. Bmc Neuroscience. 6: 1. PMID 15649316 DOI: 10.1186/1471-2202-6-1  0.52
2004 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. 23: 8815-25. PMID 15467741 DOI: 10.1038/sj.onc.1208110  0.52
2004 Parekh-Olmedo H, Wang J, Gusella JF, Kmiec EB. Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine. Journal of Molecular Neuroscience : Mn. 24: 257-67. PMID 15456939 DOI: 10.1385/JMN:24:2:257  0.52
2004 Matthysse S, Holzman PS, Gusella JF, Levy DL, Harte CB, Jørgensen A, Møller L, Parnas J. Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 128: 30-6. PMID 15211627 DOI: 10.1002/ajmg.b.30030  0.52
2004 Djoussé L, Knowlton B, Hayden MR, Almqvist EW, Brinkman RR, Ross CA, Margolis RL, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, ... ... Gusella JF, et al. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics. 5: 109-14. PMID 15029481 DOI: 10.1007/s10048-004-0175-2  0.52
2004 Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Human Molecular Genetics. 13: 429-36. PMID 14709595 DOI: 10.1093/hmg/ddh046  0.52
2003 Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, ... ... Gusella JF, et al. A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology. 61: 1557-61. PMID 14663042  0.52
2003 Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, et al. The GPR54 gene as a regulator of puberty. The New England Journal of Medicine. 349: 1614-27. PMID 14573733 DOI: 10.1056/NEJMoa035322  0.52
2003 MacDonald ME, Gines S, Gusella JF, Wheeler VC. Huntington's disease. Neuromolecular Medicine. 4: 7-20. PMID 14528049 DOI: 10.1385/NMM:4:1-2:7  0.52
2003 Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dodé C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gómez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, ... ... Gusella JF, et al. A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. American Journal of Human Genetics. 73: 682-7. PMID 12900792 DOI: 10.1086/378133  0.52
2003 Djoussé L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, ... ... Gusella JF, et al. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. American Journal of Medical Genetics. Part A. 119: 279-82. PMID 12784292 DOI: 10.1002/ajmg.a.20190  0.52
2003 Nenguke T, Aladjem MI, Gusella JF, Wexler NS, Arnheim N. Candidate DNA replication initiation regions at human trinucleotide repeat disease loci. Human Molecular Genetics. 12: 1021-8. PMID 12700170 DOI: 10.1093/hmg/ddg111  0.52
2003 Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, ... ... Gusella JF, et al. Human chromosome 7: DNA sequence and biology. Science (New York, N.Y.). 300: 767-72. PMID 12690205 DOI: 10.1126/science.1083423  0.52
2003 Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Identification of the first non-Jewish mutation in familial Dysautonomia. American Journal of Medical Genetics. Part A. 118: 305-8. PMID 12687659 DOI: 10.1002/ajmg.a.20052  0.52
2003 Gines S, Seong IS, Fossale E, Ivanova E, Trettel F, Gusella JF, Wheeler VC, Persichetti F, MacDonald ME. Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Human Molecular Genetics. 12: 497-508. PMID 12588797 DOI: 10.1093/hmg/ddg046  0.52
2003 Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. American Journal of Human Genetics. 72: 749-58. PMID 12577200 DOI: 10.1086/368263  0.52
2002 Takano H, Gusella JF. The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor. Bmc Neuroscience. 3: 15. PMID 12379151 DOI: 10.1186/1471-2202-3-15  0.52
2002 Fossale E, Wheeler VC, Vrbanac V, Lebel LA, Teed A, Mysore JS, Gusella JF, MacDonald ME, Persichetti F. Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Human Molecular Genetics. 11: 2233-41. PMID 12217951  0.52
2002 Slaugenhaupt SA, Gusella JF. Familial dysautonomia. Current Opinion in Genetics & Development. 12: 307-11. PMID 12076674 DOI: 10.1016/S0959-437X(02)00303-9  0.52
2002 DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, ... ... Gusella JF, et al. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. American Journal of Human Genetics. 70: 1089-95. PMID 11920285 DOI: 10.1086/339814  0.52
2002 Wheeler VC, Gutekunst CA, Vrbanac V, Lebel LA, Schilling G, Hersch S, Friedlander RM, Gusella JF, Vonsattel JP, Borchelt DR, MacDonald ME. Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Human Molecular Genetics. 11: 633-40. PMID 11912178  0.52
2001 Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA. Cloning, characterization, and genomic structure of the mouse Ikbkap gene. Dna and Cell Biology. 20: 579-86. PMID 11747609 DOI: 10.1089/104454901317094990  0.52
2001 DeStefano AL, Golbe LI, Mark MH, Lazzarini AM, Maher NE, Saint-Hilaire M, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, ... ... Gusella JF, et al. Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology. 57: 1124-6. PMID 11571351  0.52
2001 Gómez-Tortosa E, MacDonald ME, Friend JC, Taylor SA, Weiler LJ, Cupples LA, Srinidhi J, Gusella JF, Bird ED, Vonsattel JP, Myers RH. Quantitative neuropathological changes in presymptomatic Huntington's disease. Annals of Neurology. 49: 29-34. PMID 11198293 DOI: 10.1002/1531-8249(200101)49:1<29::AID-ANA7>3.0.CO;2-B  0.52
2001 Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, ... ... Gusella JF, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. American Journal of Human Genetics. 68: 598-605. PMID 11179008 DOI: 10.1086/318810  0.52
2000 Gusella JF, MacDonald ME. Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nature Reviews. Neuroscience. 1: 109-15. PMID 11252773 DOI: 10.1038/nrd1077  0.52
2000 Lim DJ, Rubenstein AE, Evans DG, Jacks T, Seizinger BG, Baser ME, Beebe D, Brackmann DE, Chiocca EA, Fehon RG, Giovannini M, Glazer R, Gusella JF, Gutmann DH, Korf B, et al. Advances in neurofibromatosis 2 (NF2): a workshop report. Journal of Neurogenetics. 14: 63-106. PMID 10992163  0.52
2000 Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella JF, Vonsattel JP, MacDonald ME. Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. Human Molecular Genetics. 9: 2175-82. PMID 10958656  0.52
2000 Castells A, Gusella JF, Ramesh V, Rustgi AK. A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. Cancer Research. 60: 2836-9. PMID 10850424  0.52
2000 Wheeler VC, White JK, Gutekunst CA, Vrbanac V, Weaver M, Li XJ, Li SH, Yi H, Vonsattel JP, Gusella JF, Hersch S, Auerbach W, Joyner AL, MacDonald ME. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Human Molecular Genetics. 9: 503-13. PMID 10699173  0.52
2000 Chadwick BP, Leyne M, Gill S, Liebert CB, Mull J, Mezey E, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 11: 81-3. PMID 10603000 DOI: 10.1007/s003350010017  0.52
2000 Gusella JF. From superstition to rational therapy Neuroscience News. 3: 6-7.  0.52
2000 Gusella JF. Huntington's disease: Two decades from mystery to models Neuroscience News. 3: 15-22.  0.52
1999 Persichetti F, Trettel F, Huang CC, Fraefel C, Timmers HT, Gusella JF, MacDonald ME. Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment. Neurobiology of Disease. 6: 364-75. PMID 10527804 DOI: 10.1006/nbdi.1999.0260  0.52
1999 MacDonald ME, Vonsattel JP, Shrinidhi J, Couropmitree NN, Cupples LA, Bird ED, Gusella JF, Myers RH. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology. 53: 1330-2. PMID 10522893  0.52
1999 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. 117: 831-7. PMID 10500065 DOI: 10.1016/S0016-5085(99)70341-0  0.52
1999 Zhu JJ, Maruyama T, Jacoby LB, Herman JG, Gusella JF, Black PM, Wu JK. Clonal analysis of a case of multiple meningiomas using multiple molecular genetic approaches: pathology case report. Neurosurgery. 45: 409-16. PMID 10449091 DOI: 10.1097/00006123-199908000-00049  0.52
1999 Slaugenhaupt SA, Acierno JS, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. American Journal of Human Genetics. 65: 773-8. PMID 10441585 DOI: 10.1086/302549  0.52
1999 Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Genomics. 58: 302-9. PMID 10373328 DOI: 10.1006/geno.1999.5848  0.52
1999 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. 2: 101-8. PMID 10369886 DOI: 10.1007/s100480050060  0.52
1999 Gusella JF, Ramesh V, MacCollin M, Jacoby LB. Merlin: the neurofibromatosis 2 tumor suppressor. Biochimica Et Biophysica Acta. 1423: M29-36. PMID 10214350  0.52
1999 Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, ... ... Gusella JF, et al. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. American Journal of Human Genetics. 64: 1110-8. PMID 10090896 DOI: 10.1086/302339  0.52
1999 Leeflang EP, Tavaré S, Marjoram P, Neal CO, Srinidhi J, MacFarlane H, MacDonald ME, Gusella JF, de Young M, Wexler NS, Arnheim N. Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Human Molecular Genetics. 8: 173-83. PMID 9931325 DOI: 10.1093/hmg/8.2.173  0.52
1999 Wheeler VC, Auerbach W, White JK, Srinidhi J, Auerbach A, Ryan A, Duyao MP, Vrbanac V, Weaver M, Gusella JF, Joyner AL, MacDonald ME. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Human Molecular Genetics. 8: 115-22. PMID 9887339 DOI: 10.1093/hmg/8.1.115  0.52
1999 Leeflang EP, Tavare S, Marjoram P, Neal COS, Srinidhi J, MacFarlane H, MacDonald ME, Gusella JF, De Young M, Wexler NS, Amheim N. Corrigendum: Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism (Human Molecular Genetics (1999) 8 (173-183)) Human Molecular Genetics. 8: 717.  0.52
1998 Huang CC, Faber PW, Persichetti F, Mittal V, Vonsattel JP, MacDonald ME, Gusella JF. Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins. Somatic Cell and Molecular Genetics. 24: 217-33. PMID 10410676 DOI: 10.1023/B:SCAM.0000007124.19463.e5  0.52
1998 Chadwick BP, Helbling LA, Angrist M, Chakravarti A, Gusella JF, Slaugenhaupt SA. Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR. Cytogenetics and Cell Genetics. 83: 236-7. PMID 10072588  0.52
1998 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. 2: 73-4. PMID 9933303 DOI: 10.1007/s100480050054  0.52
1998 Cowley GS, Murthy AE, Parry DM, Schneider G, Korf B, Upadhyaya M, Harper P, MacCollin M, Bernards A, Gusella JF. Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression. Somatic Cell and Molecular Genetics. 24: 107-19. PMID 9919310 DOI: 10.1023/B:SCAM.0000007113.28381.53  0.52
1998 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. Journal of Neuropathology and Experimental Neurology. 57: 1164-7. PMID 9862639  0.52
1998 Rutter JL, Mitchell TI, Butticè G, Meyers J, Gusella JF, Ozelius LJ, Brinckerhoff CE. A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Research. 58: 5321-5. PMID 9850057  0.52
1998 Gusella JF, Podolsky DK. Inflammatory bowel disease: is it in the genes? Gastroenterology. 115: 1286-9. PMID 9797387 DOI: 10.1016/S0016-5085(98)70103-9  0.52
1998 Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa Y, Huang SC, ... ... Gusella JF, et al. The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends in Biochemical Sciences. 23: 281-2. PMID 9757824 DOI: 10.1016/S0968-0004(98)01237-7  0.52
1998 Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Jacoby D, Penney J, Risch NJ, Fahn S, Gusella JF, Breakefield XO. The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Advances in Neurology. 78: 93-105. PMID 9750906  0.52
1998 Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME. Huntingtin interacts with a family of WW domain proteins. Human Molecular Genetics. 7: 1463-74. PMID 9700202 DOI: 10.1093/hmg/7.9.1463  0.52
1998 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 & Development. 12: 1121-33. PMID 9553042  0.52
1998 Green T, Heinemann SF, Gusella JF. Molecular neurobiology and genetics: investigation of neural function and dysfunction. Neuron. 20: 427-44. PMID 9539120 DOI: 10.1016/S0896-6273(00)80986-1  0.52
1997 Pribill I, Barnes GT, Chen J, Church D, Buckler A, Baxendale S, Bates GP, Lehrach H, Gusella MJ, Duyao MP, Ambrose CM, Gusella JF, MacDonald ME. Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3. Somatic Cell and Molecular Genetics. 23: 413-27. PMID 9661704  0.52
1997 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. The American Journal of Pathology. 151: 1649-54. PMID 9403715  0.52
1997 White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nature Genetics. 17: 404-10. PMID 9398841 DOI: 10.1038/ng1297-404  0.52
1997 Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genetics. 17: 40-8. PMID 9288096 DOI: 10.1038/ng0997-40  0.52
1997 Kosinski CM, Cha JH, Young AB, Persichetti F, MacDonald M, Gusella JF, Penney JB, Standaert DG. Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons. Experimental Neurology. 144: 239-47. PMID 9168825 DOI: 10.1006/exnr.1997.6441  0.52
1997 McNeil SM, Novelletto A, Srinidhi J, Barnes G, Kornbluth I, Altherr MR, Wasmuth JJ, Gusella JF, MacDonald ME, Myers RH. Reduced penetrance of the Huntington's disease mutation. Human Molecular Genetics. 6: 775-9. PMID 9158152  0.52
1997 Penney JB, Vonsattel JP, MacDonald ME, Gusella JF, Myers RH. CAG repeat number governs the development rate of pathology in Huntington's disease. Annals of Neurology. 41: 689-92. PMID 9153534 DOI: 10.1002/ana.410410521  0.52
1997 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 (New York, N.Y.). 276: 791-4. PMID 9115203 DOI: 10.1126/science.276.5313.791  0.52
1997 Ferrante RJ, Gutekunst CA, Persichetti F, McNeil SM, Kowall NW, Gusella JF, MacDonald ME, Beal MF, Hersch SM. Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 3052-63. PMID 9096140  0.52
1997 Menon AG, Rutter JL, von Sattel JP, Synder H, Murdoch C, Blumenfeld A, Martuza RL, von Deimling A, Gusella JF, Houseal TW. Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative 'tumor progression' locus. Oncogene. 14: 611-6. PMID 9053860 DOI: 10.1038/sj.onc.1200853  0.52
1996 MacDonald ME, Duyao M, Calzonetti T, Auerbach A, Ryan A, Barnes G, White JK, Auerbach W, Vonsattel JP, Gusella JF, Joyner AL. Targeted inactivation of the mouse Huntington's disease gene homolog Hdh. Cold Spring Harbor Symposia On Quantitative Biology. 61: 627-38. PMID 9246489  0.52
1996 Gusella JF, McNeil S, Persichetti F, Srinidhi J, Novelletto A, Bird E, Faber P, Vonsattel JP, Myers RH, MacDonald ME. Huntington's disease. Cold Spring Harbor Symposia On Quantitative Biology. 61: 615-26. PMID 9246488  0.48
1996 Grosson CL, Cannon SC, Corey DP, Gusella JF. Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice. Brain Research. Molecular Brain Research. 42: 222-6. PMID 9013777 DOI: 10.1016/S0169-328X(96)00123-4  0.52
1996 Haines JL, Pritchard ML, Saunders AM, Schildkraut JM, Growdon JH, Gaskell PC, Farrer LA, Auerbach SA, Gusella JF, Locke PA, Rosi BL, Yamaoka L, Small GW, Conneally PM, Roses AD, et al. No association between alpha 1-antichymotrypsin and familial Alzheimer's disease. Annals of the New York Academy of Sciences. 802: 35-41. PMID 8993482 DOI: 10.1111/j.1749-6632.1996.tb32596.x  0.52
1996 Persichetti F, Carlee L, Faber PW, McNeil SM, Ambrose CM, Srinidhi J, Anderson M, Barnes GT, Gusella JF, MacDonald ME. Differential expression of normal and mutant Huntington's disease gene alleles. Neurobiology of Disease. 3: 183-90. PMID 8980018 DOI: 10.1006/nbdi.1996.0018  0.52
1996 Haines JL, Ter-Minassian M, Bazyk A, Gusella JF, Kim DJ, Terwedow H, Pericak-Vance MA, Rimmler JB, Haynes CS, Roses AD, Lee A, Shaner B, Menold M, Seboun E, Fitoussi RP, et al. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nature Genetics. 13: 469-71. PMID 8696344 DOI: 10.1038/ng0896-469  0.44
1996 Haines JL, Pritchard ML, Saunders AM, Schildkraut JM, Growdon JH, Gaskell PC, Farrer LA, Auerbach SA, Gusella JF, Locke PA, Rosi BL, Yamaoka L, Small GW, Conneally PM, Roses AD, et al. No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. Genomics. 33: 53-6. PMID 8617509 DOI: 10.1006/geno.1996.0158  0.52
1995 Johnson EW, Iyer LM, Rich SS, Orr HT, Gil-Nagel A, Kurth JH, Zabramski JM, Marchuk DA, Weissenbach J, Clericuzio CL, Davis LE, Hart BL, Gusella JF, Kosofsky BE, Louis DN, et al. Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. Genome Research. 5: 368-80. PMID 8750196  0.52
1995 Yong WH, Ueki K, Chou D, Reeves SA, von Deimling A, Gusella JF, Mohrenweiser HW, Buckler AJ, Louis DN. Cloning of a highly conserved human protein serine-threonine phosphatase gene from the glioma candidate region on chromosome 19q13.3. Genomics. 29: 533-6. PMID 8666404 DOI: 10.1006/geno.1995.9972  0.52
1995 Trofatter JA, Long KR, Murrell JR, Stotler CJ, Gusella JF, Buckler AJ. An expression-independent catalog of genes from human chromosome 22. Genome Research. 5: 214-24. PMID 8593609  0.4
1995 Leeflang EP, Zhang L, Tavaré S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF. Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Human Molecular Genetics. 4: 1519-26. PMID 8541834 DOI: 10.1093/hmg/4.9.1519  0.4
1995 Marchuk DA, Gallione CJ, Morrison LA, Clericuzio CL, Hart BL, Kosofsky BE, Louis DN, Gusella JF, Davis LE, Prenger VL. A locus for cerebral cavernous malformations maps to chromosome 7q in two families. Genomics. 28: 311-4. PMID 8530042 DOI: 10.1006/geno.1995.1147  0.52
1995 Ishioka C, Ballester R, Engelstein M, Vidal M, Kassel J, The I, Bernards A, Gusella JF, Friend SH. A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene. Oncogene. 10: 841-7. PMID 7898926  0.52
1995 Giordani B, Berent S, Boivin MJ, Penney JB, Lehtinen S, Markel DS, Hollingsworth Z, Butterbaugh G, Hichwa RD, Gusella JF. Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease. Archives of Neurology. 52: 59-64. PMID 7826277 DOI: 10.1001/archneur.1995.00540250063014  0.52
1995 Vonsattel JP, Aizawa H, Ge P, DiFiglia M, McKee AC, MacDonald M, Gusella JF, Landwehrmeyer GB, Bird ED, Richardson EP. An improved approach to prepare human brains for research. Journal of Neuropathology and Experimental Neurology. 54: 42-56. PMID 7815079  0.52
1995 von Deimling A, Kraus JA, Stangl AP, Wellenreuther R, Lenartz D, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD. Evidence for subarachnoid spread in the development of multiple meningiomas. Brain Pathology (Zurich, Switzerland). 5: 11-4. PMID 7767486  0.52
1995 Wellenreuther R, Kraus JA, Lenartz D, Menon AG, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD, von Deimling A. Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. The American Journal of Pathology. 146: 827-32. PMID 7717450  0.52
1995 Locke PA, Conneally PM, Tanzi RE, Gusella JF, Haines JL. Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases. Genetic Epidemiology. 12: 83-92. PMID 7713402 DOI: 10.1002/gepi.1370120108  0.52
1995 Yong WH, Chou D, Ueki K, Harsh GR, von Deimling A, Gusella JF, Mohrenweiser HW, Louis DN. Chromosome 19q deletions in human gliomas overlap telomeric to D19S219 and may target a 425 kb region centromeric to D19S112. Journal of Neuropathology and Experimental Neurology. 54: 622-6. PMID 7666049  0.52
1995 Slavc I, MacCollin MM, Dunn M, Jones S, Sutton L, Gusella JF, Biegel JA. Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas. International Journal of Cancer. Journal International Du Cancer. 64: 243-7. PMID 7657387 DOI: 10.1002/ijc.2910640406  0.52
1995 Sahin M, Slaugenhaupt SA, Gusella JF, Hockfield S. Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. Proceedings of the National Academy of Sciences of the United States of America. 92: 7859-63. PMID 7644504 DOI: 10.1073/pnas.92.17.7859  0.52
1995 Duyao MP, Auerbach AB, Ryan A, Persichetti F, Barnes GT, McNeil SM, Ge P, Vonsattel JP, Gusella JF, Joyner AL. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science (New York, N.Y.). 269: 407-10. PMID 7618107  0.52
1995 Reppert SM, Godson C, Mahle CD, Weaver DR, Slaugenhaupt SA, Gusella JF. Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. Proceedings of the National Academy of Sciences of the United States of America. 92: 8734-8. PMID 7568007 DOI: 10.1073/pnas.92.19.8734  0.52
1995 Slaugenhaupt SA, Roca AL, Liebert CB, Altherr MR, Gusella JF, Reppert SM. Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). Genomics. 27: 355-7. PMID 7558006 DOI: 10.1006/geno.1995.1056  0.52
1995 Blumenfeld A, Lucente DE, Trofatter JA, Lerner T, Slaugenhaupt SA, Liebert CB, Monahan M, Haines JL, Gusella JF, Breakefield XO, Parysek LM. Peripherin gene is linked to keratin 18 gene on human chromosome 12. Somatic Cell and Molecular Genetics. 21: 83-8. PMID 7541564 DOI: 10.1007/BF02255825  0.52
1995 Rustgi AK, Xu L, Pinney D, Sterner C, Beauchamp R, Schmidt S, Gusella JF, Ramesh V. Neurofibromatosis 2 gene in human colorectal cancer. Cancer Genetics and Cytogenetics. 84: 24-6. PMID 7497438 DOI: 10.1016/0165-4608(95)00059-3  0.52
1995 Joseph JT, Lisle DK, Jacoby LB, Paulus W, Barone R, Cohen ML, Roggendorf WH, Bruner JM, Gusella JF, Louis DN. NF2 gene analysis distinguishes hemangiopericytoma from meningioma. The American Journal of Pathology. 147: 1450-5. PMID 7485407  0.52
1995 Louis DN, Gusella JF. A tiger behind many doors: multiple genetic pathways to malignant glioma. Trends in Genetics : Tig. 11: 412-5. PMID 7482768 DOI: 10.1016/S0168-9525(00)89125-8  0.52
1994 Persichetti F, Srinidhi J, Kanaley L, Ge P, Myers RH, D'Arrigo K, Barnes GT, MacDonald ME, Vonsattel JP, Gusella JF. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiology of Disease. 1: 159-66. PMID 9173995  0.48
1994 Lerner TJ, Boustany RM, MacCormack K, Gleitsman J, Schlumpf K, Breakefield XO, Gusella JF, Haines JL. Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1. American Journal of Human Genetics. 54: 88-94. PMID 8279474  0.44
1994 Bianchi AB, Hara T, Ramesh V, Gao J, Klein-Szanto AJ, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nature Genetics. 6: 185-92. PMID 8162073 DOI: 10.1038/ng0294-185  0.4
1994 Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Pergola M, Del Senno L, MacDonald ME, Gusella JF. Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Human Molecular Genetics. 3: 93-8. PMID 8162059 DOI: 10.1093/hmg/3.1.93  0.36
1994 Bush AI, Pettingell WH, Multhaup G, d Paradis M, Vonsattel JP, Gusella JF, Beyreuther K, Masters CL, Tanzi RE. Rapid induction of Alzheimer A beta amyloid formation by zinc. Science (New York, N.Y.). 265: 1464-7. PMID 8073293  0.56
1994 Rubio MP, Correa KM, Ueki K, Mohrenweiser HW, Gusella JF, von Deimling A, Louis DN. The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC. Cancer Research. 54: 4760-3. PMID 8062276  0.52
1994 Haase VH, Trofatter JA, MacCollin M, Tarttelin E, Gusella JF, Ramesh V. The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms. Human Molecular Genetics. 3: 407-11. PMID 8012352  0.4
1994 Ali G, Wasco W, Cai X, Szabo P, Sheu KF, Cooper AJ, Gaston SM, Gusella JF, Tanzi RE, Blass JP. Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex. Somatic Cell and Molecular Genetics. 20: 99-105. PMID 8009371 DOI: 10.1007/BF02290679  0.52
1994 Rosen DR, Sapp P, O'Regan J, McKenna-Yasek D, Schlumpf KS, Haines JL, Gusella JF, Horvitz HR, Brown RH. Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers. American Journal of Medical Genetics. 51: 61-9. PMID 7913294 DOI: 10.1002/ajmg.1320510114  0.52
1994 Ueki K, Rubio MP, Ramesh V, Correa KM, Rutter JL, von Deimling A, Buckler AJ, Gusella JF, Louis DN. MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p. Human Molecular Genetics. 3: 1841-5. PMID 7849711  0.52
1994 Yan WL, Lerner TJ, Haines JL, Gusella JF. Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Genomics. 24: 375-7. PMID 7698763 DOI: 10.1006/geno.1994.1631  0.44
1993 Snell RG, Doucette-Stamm LA, Gillespie KM, Taylor SA, Riba L, Bates GP, Altherr MR, MacDonald ME, Gusella JF, Wasmuth JJ. The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library. Human Molecular Genetics. 2: 305-9. PMID 8499921  0.52
1993 Yan W, Boustany RM, Konradi C, Ozelius L, Lerner T, Trofatter JA, Julier C, Breakefield XO, Gusella JF, Haines JL. Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. American Journal of Human Genetics. 52: 89-95. PMID 8434611  0.52
1993 McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Human Molecular Genetics. 2: 745-9. PMID 8394762  0.52
1993 Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-Vance MA, Joo SH, Rosi BL, Gusella JF, Crapper-MacLachlan DR, Alberts MJ. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology. 43: 1467-72. PMID 8350998  0.52
1993 Farrer LA, Cupples LA, Wiater P, Conneally PM, Gusella JF, Myers RH. The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. American Journal of Human Genetics. 53: 125-30. PMID 8317477  0.52
1993 Pericak-Vance MA, St George-Hyslop PH, Gaskell PC, Growdon J, Crain BJ, Hulette C, Gusella JF, Yamaoka L, Tanzi RE, Roses AD. Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets. Genetic Epidemiology. 10: 361-4. PMID 8314027 DOI: 10.1002/gepi.1370100605  0.52
1993 Kwiatkowski DJ, Dib C, Slaugenhaupt SA, Povey S, Gusella JF, Haines JL. An index marker map of chromosome 9 provides strong evidence for positive interference. American Journal of Human Genetics. 53: 1279-88. PMID 8250044  0.44
1993 Henske EP, Ozelius L, Gusella JF, Haines JL, Kwiatkowski DJ. A high-resolution linkage map of human 9q34.1. Genomics. 17: 587-91. PMID 8244374 DOI: 10.1006/geno.1993.1376  0.44
1993 Rogaev EI, Lukiw WJ, Vaula G, Haines JL, Rogaeva EA, Tsuda T, Alexandrova N, Liang Y, Mortilla M, Amaducci L, Bergamini L, Bruni AC, Foncin JF, Macciardi F, Montesi M, ... ... Gusella JF, et al. Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease. Neurology. 43: 2275-9. PMID 8232942  0.52
1993 Myers RH, MacDonald ME, Gusella JF. Discrepancy resolved. Nature Genetics. 5: 215. PMID 8110292 DOI: 10.1038/ng1193-215b  0.52
1993 Locke PA, MacDonald ME, Srinidhi J, Gilliam TC, Tanzi RE, Conneally PM, Wexler NS, Haines JL, Gusella JF. A genetic linkage map of the chromosome 4 short arm. Somatic Cell and Molecular Genetics. 19: 95-101. PMID 8096345 DOI: 10.1007/BF01233958  0.52
1993 Ramesh N, Ramesh V, Gusella JF, Geha R. Chromosomal localization of the gene for human B-cell antigen CD40. Somatic Cell and Molecular Genetics. 19: 295-8. PMID 7687385 DOI: 10.1007/BF01233077  0.52
1993 Cannon SC, McClatchey AI, Gusella JF. Modification of the Na+ current conducted by the rat skeletal muscle alpha subunit by coexpression with a human brain beta subunit. PflüGers Archiv : European Journal of Physiology. 423: 155-7. PMID 7683789 DOI: 10.1007/BF00374974  0.52
1993 Church DM, Banks LT, Rogers AC, Graw SL, Housman DE, Gusella JF, Buckler AJ. Identification of human chromosome 9 specific genes using exon amplification. Human Molecular Genetics. 2: 1915-20. PMID 7506603 DOI: 10.1093/hmg/2.11.1915  0.52
1992 Altherr MR, Gusella JF, Wasmuth JJ, Kummer MA, McKercher SW, Johnson VP. Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome. American Journal of Medical Genetics. 44: 449-54. PMID 1442886 DOI: 10.1002/ajmg.1320440413  0.52
1992 Ozelius LJ, Kwiatkowski DJ, Schuback DE, Breakefield XO, Wexler NS, Gusella JF, Haines JL. A genetic linkage map of human chromosome 9q. Genomics. 14: 715-20. PMID 1427899  0.44
1992 Tanzi RE, Romano DM, Berger R, Buraczynska MJ, Gaston SM, Kurnit DM, Patterson D, Gusella JF, Stewart GD. Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21. Genomics. 14: 498-502. PMID 1427866 DOI: 10.1016/S0888-7543(05)80251-4  0.52
1992 Youngman S, Bates GP, Williams S, McClatchey AI, Baxendale S, Sedlacek Z, Altherr M, Wasmuth JJ, MacDonald ME, Gusella JF. The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. Genomics. 14: 350-6. PMID 1427851 DOI: 10.1016/S0888-7543(05)80225-3  0.52
1992 Snell RG, Thompson LM, Tagle DA, Holloway TL, Barnes G, Harley HG, Sandkuijl LA, MacDonald ME, Collins FS, Gusella JF. A recombination event that redefines the Huntington disease region. American Journal of Human Genetics. 51: 357-62. PMID 1386495  0.52
1992 Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF. Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. American Journal of Human Genetics. 50: 619-28. PMID 1347197  0.52
1992 Tanzi RE, Watkins PC, Stewart GD, Wexler NS, Gusella JF, Haines JL. A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age. American Journal of Human Genetics. 50: 551-8. PMID 1347193  0.56
1992 Haines JL, Trofatter JA, Tanzi RE, Watkins P, Wexler NS, Conneally PM, Gusella JF. Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree. Cytogenetics and Cell Genetics. 59: 88-9. PMID 1346592  0.52
1992 Trofatter JA, Sytsma ML, Gusella JF, Haines JL. Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2). Human Molecular Genetics. 1: 455. PMID 1338763  0.44
1992 Rosen DR, Sapp PC, O'Regan J, Horvitz HR, Donaldson DH, Nussbaum C, Gusella JF, Haines JL, Pestka S, Jung V. Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1. Human Molecular Genetics. 1: 547. PMID 1307256  0.52
1992 Donaldson DH, Rosen DR, O'Regan J, Sapp PC, Horvitz HR, Gusella JF, Haines JL, Pestka S, Jung V, Nusbaum C. Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1). Human Molecular Genetics. 1: 651. PMID 1301176 DOI: 10.1093/hmg/1.8.651  0.52
1992 Huang Q, Zhou D, Chase K, Gusella JF, Aronin N, DiFiglia M. Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus. Proceedings of the National Academy of Sciences of the United States of America. 89: 11988-92. PMID 1281547  0.52
1992 Wasco W, Bupp K, Magendantz M, Gusella JF, Tanzi RE, Solomon F. Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor. Proceedings of the National Academy of Sciences of the United States of America. 89: 10758-62. PMID 1279693  0.52
1991 Fontaine B, Rouleau GA, Seizinger BR, Menon AG, Jewell AF, Martuza RL, Gusella JF. Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma). Annals of the New York Academy of Sciences. 615: 338-43. PMID 2039155  0.52
1991 Tanzi RE, George-Hyslop PS, Gusella JF. Molecular genetics of Alzheimer disease amyloid. The Journal of Biological Chemistry. 266: 20579-82. PMID 1939107  0.56
1991 Brown RH, Horvitz HR, Rouleau GA, McKenna-Yasek D, Beard C, Sapp P, Haines JL, Gusella JF, Figlewicz DA. Gene linkage in familial amyotrophic lateral sclerosis: a progress report. Advances in Neurology. 56: 215-26. PMID 1853758  0.52
1991 Fontaine B, Trofatter J, Rouleau GA, Khurana TS, Haines J, Brown R, Gusella JF. Different gene loci for hyperkalemic and hypokalemic periodic paralysis. Neuromuscular Disorders : Nmd. 1: 235-8. PMID 1822800  0.64
1990 Rouleau GA, Bazanowski A, Gusella JF, Haines JL. A genetic map of chromosome 1: comparison of different data sets and linkage programs. Genomics. 7: 313-8. PMID 2365352  0.64
1990 Tanzi RE, Haines JL, Gusella JF. Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex. Progress in Clinical and Biological Research. 360: 15-26. PMID 2247506  0.56
1990 Fontaine B, Rouleau GA, Seizinger B, Jewell AF, Hanson MP, Martuza RL, Gusella JF. Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. American Journal of Human Genetics. 47: 823-7. PMID 2220822  0.52
1990 Rouleau GA, Seizinger BR, Wertelecki W, Haines JL, Superneau DW, Martuza RL, Gusella JF. Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. American Journal of Human Genetics. 46: 323-8. PMID 2105641  0.52
1990 Palmert MR, Podlisny MB, Golde TE, Cohen ML, Kovacs DM, Tanzi RE, Gusella JF, Whitehouse PJ, Witker DS, Oltersdorf T. Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products. Advances in Neurology. 51: 181-4. PMID 2104687  0.52
1990 Fontaine B, Hanson MP, Liou HC, Glimcher LH, Rouleau GA, Gusella JF. BanI polymorphism at the XBP1 locus. Nucleic Acids Research. 18: 5578. PMID 1977120 DOI: 10.1093/nar/18.18.5578-a  0.52
1989 St George-Hyslop PH, Tanzi RE, Haines JL, Polinsky RJ, Farrer L, Myers RH, Gusella JF. Molecular genetics of familial Alzheimer's disease. European Neurology. 29: 25-7. PMID 2693103  0.56
1989 St George-Hyslop PH, Myers RH, Haines JL, Farrer LA, Tanzi RE, Abe K, James MF, Conneally PM, Polinsky RJ, Gusella JF. Familial Alzheimer's disease: progress and problems. Neurobiology of Aging. 10: 417-25. PMID 2682321 DOI: 10.1016/0197-4580(89)90082-1  0.52
1989 St George-Hyslop PH, Haines JL, Polinsky RJ, Tanzi RE, Farrer L, Myers RH, Gusella JF. Molecular genetics of familial Alzheimer's disease. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 16: 465-7. PMID 2680005  0.56
1989 Rouleau GA, Haines JL, Bazanowski A, Colella-Crowley A, Trofatter JA, Wexler NS, Conneally PM, Gusella JF. A genetic linkage map of the long arm of human chromosome 22. Genomics. 4: 1-6. PMID 2563348 DOI: 10.1016/0888-7543(89)90306-6  0.52
1989 Van Keuren ML, Stewart GD, Bradley CM, Kurnit DM, Neve RL, Watkins PC, Tanzi RE, Gusella JF, Patterson D. Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes. American Journal of Medical Genetics. 33: 369-75. PMID 2529766 DOI: 10.1002/ajmg.1320330316  0.52
1989 Palmert MR, Podlisny MB, Golde TE, Cohen ML, Kovacs DM, Tanzi RE, Gusella JF, Whitehouse PJ, Witker DS, Oltersdorf T. The beta amyloid protein precursor: mRNAs, membrane-associated forms, and soluble derivatives. Progress in Clinical and Biological Research. 317: 971-84. PMID 2513588  0.52
1989 Tanzi RE, St George-Hyslop PH, Gusella JF. Molecular genetic approaches to Alzheimer's disease. Trends in Neurosciences. 12: 152-8. PMID 2470173 DOI: 10.1016/0166-2236(89)90055-6  0.56
1988 Sacchi N, Cheng SV, Tanzi RE, Gusella JF, Drabkin HA, Patterson D, Haines JH, Papas TS. The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21). Genomics. 3: 110-6. PMID 3267212  0.56
1988 Wertelecki W, Rouleau GA, Superneau DW, Forehand LW, Williams JP, Haines JL, Gusella JF. Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. The New England Journal of Medicine. 319: 278-83. PMID 3134615 DOI: 10.1056/NEJM198808043190505  0.64
1988 Tanzi RE, Haines JL, Watkins PC, Stewart GD, Wallace MR, Hallewell R, Wong C, Wexler NS, Conneally PM, Gusella JF. Genetic linkage map of human chromosome 21. Genomics. 3: 129-36. PMID 2906323 DOI: 10.1016/0888-7543(88)90143-7  0.52
1988 Rouleau GA, Bazanowski A, Cohen EH, Guellaen G, Gusella JF. Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism. Nucleic Acids Research. 16: 11848. PMID 2905445  0.64
1988 Phelan MC, Morton CC, Stevenson RE, Tanzi RE, Stewart GD, Watkins PC, Gusella JF, Amos JA. Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. American Journal of Human Genetics. 43: 511-9. PMID 2902789  0.52
1988 Cheng SV, Nadeau JH, Tanzi RE, Watkins PC, Jagadesh J, Taylor BA, Haines JL, Sacchi N, Gusella JF. Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17. Proceedings of the National Academy of Sciences of the United States of America. 85: 6032-6. PMID 2901095  0.56
1988 Rouleau GA, Kurnit DM, Neve RL, Bazanowsky A, Patterson D, Gusella JF. D22S15--a fetal brain cDNA with BanII and SacI RFLP. Nucleic Acids Research. 16: 1646. PMID 2894636  0.64
1988 Tanzi RE, McClatchey AI, Lamperti ED, Villa-Komaroff L, Gusella JF, Neve RL. Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature. 331: 528-30. PMID 2893290 DOI: 10.1038/331528a0  0.56
1988 Martuza RL, Seizinger BR, Jacoby LB, Rouleau GA, Gusella JF. The molecular biology of human glial tumors. Trends in Neurosciences. 11: 22-7. PMID 2469150 DOI: 10.1016/0166-2236(88)90045-8  0.52
1988 Palmert MR, Golde TE, Cohen ML, Kovacs DM, Tanzi RE, Gusella JF, Usiak MF, Younkin LH, Younkin SG. Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease. Science (New York, N.Y.). 241: 1080-4. PMID 2457949  0.52
1987 Cheng SV, Gross Lugo T, Tanzi RE, Whitney JB, Fournier RE, Gusella JF. Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker. Dna (Mary Ann Liebert, Inc.). 6: 401-7. PMID 2890502  0.52
1987 Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. 329: 246-8. PMID 2888021 DOI: 10.1038/329246a0  0.52
1987 Tanzi RE, St George-Hyslop PH, Haines JL, Polinsky RJ, Nee L, Foncin JF, Neve RL, McClatchey AI, Conneally PM, Gusella JF. The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Nature. 329: 156-7. PMID 2888020 DOI: 10.1038/329156a0  0.52
1987 Watkins PC, Eddy R, Beck AK, Vellucci V, Leverone B, Tanzi RE, Gusella JF, Shows TB. DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11. Dna (Mary Ann Liebert, Inc.). 6: 205-12. PMID 2885163  0.56
1987 Watkins PC, Tanzi RE, Cheng SV, Gusella JF. Molecular genetics of human chromosome 21. Journal of Medical Genetics. 24: 257-70. PMID 2884319  0.56
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