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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

412 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, 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
2020 Loupe JM, Pinto RM, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, et al. Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out. Human Molecular Genetics. PMID 32876667 DOI: 10.1093/Hmg/Ddaa196  0.36
2020 Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, et al. Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. American Journal of Human Genetics. PMID 32589923 DOI: 10.1016/J.Ajhg.2020.05.012  0.36
2019 Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, ... ... Gusella JF, et al. Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease. Biological Psychiatry. PMID 32087949 DOI: 10.1016/J.Biopsych.2019.12.010  0.36
2019 Kim KH, Abu Elneel K, Shin JW, Keum JW, Seong D, Kwak S, Lee R, Gusella JF, MacDonald ME, Seong IS, Lee JM. Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA. Journal of Human Genetics. PMID 31296921 DOI: 10.1038/S10038-019-0639-8  0.36
2019 Murthy V, Tebaldi T, Yoshida T, Erdin S, Calzonetti T, Vijayvargia R, Tripathi T, Kerschbamer E, Seong IS, Quattrone A, Talkowski ME, Gusella JF, Georgopoulos K, MacDonald ME, Biagioli M. Hypomorphic mutation of the mouse Huntington's disease gene orthologue. Plos Genetics. 15: e1007765. PMID 30897080 DOI: 10.1371/Journal.Pgen.1007765  0.36
2019 Kedaigle AJ, Fraenkel E, Atwal RS, Wu M, Gusella JF, MacDonald ME, Kaye JA, Finkbeiner S, Mattis VB, Tom CM, Svendsen C, King AR, Chen Y, Stocksdale JT, Lim RG, et al. Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites. Human Molecular Genetics. PMID 30768179 DOI: 10.1093/Hmg/Ddy430  0.36
2018 Long JD, Lee JM, Aylward EH, Gillis T, Mysore JS, Abu Elneel K, Chao MJ, Paulsen JS, MacDonald ME, Gusella JF. Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. American Journal of Human Genetics. PMID 30122542 DOI: 10.1016/J.Ajhg.2018.07.017  0.36
2018 Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, ... Gusella JF, et al. Population-specific genetic modification of Huntington's disease in Venezuela. Plos Genetics. 14: e1007274. PMID 29750799 DOI: 10.1371/Journal.Pgen.1007274  0.44
2017 Handley RR, Reid SJ, Brauning R, Maclean P, Mears ER, Fourie I, Patassini S, Cooper GJS, Rudiger SR, McLaughlan CJ, Verma PJ, Gusella JF, MacDonald ME, Waldvogel HJ, Bawden CS, et al. Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases. Proceedings of the National Academy of Sciences of the United States of America. PMID 29229845 DOI: 10.1073/Pnas.1711243115  0.36
2017 Lee JM, Chao MJ, Harold D, Abu Elneel K, Gillis T, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF. A modifier of Huntington's disease onset at the MLH1 locus. Human Molecular Genetics. 26: 3859-3867. PMID 28934397 DOI: 10.1093/Hmg/Ddx286  0.36
2017 Chao MJ, Gillis T, Atwal RS, Mysore JS, Arjomand J, Harold D, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Haplotype-based stratification of Huntington's disease. European Journal of Human Genetics : Ejhg. PMID 28832564 DOI: 10.1038/Ejhg.2017.125  0.36
2017 Jacobsen JC, Erdin S, Chiang C, Hanscom C, Handley RR, Barker DD, Stortchevoi A, Blumenthal I, Reid SJ, Snell RG, MacDonald ME, Morton AJ, Ernst C, Gusella JF, Talkowski ME. Potential molecular consequences of transgene integration: The R6/2 mouse example. Scientific Reports. 7: 41120. PMID 28120936 DOI: 10.1038/Srep41120  0.36
2016 Shin JW, Kim KH, Chao MJ, Atwal RS, Gillis T, MacDonald ME, Gusella JF, Lee JM. Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Human Molecular Genetics. PMID 27634650 DOI: 10.1093/hmg/ddw286  0.36
2016 Labadorf A, Hoss AG, Lagomarsino V, Latourelle JC, Hadzi TC, Bregu J, MacDonald ME, Gusella JF, Chen JF, Akbarian S, Weng Z, Myers RH. Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression. Plos One. 11: e0160295. PMID 27454300 DOI: 10.1371/journal.pone.0160295  0.36
2016 Alexandrov V, Brunner D, Menalled LB, Kudwa A, Watson-Johnson J, Mazzella M, Russell I, Ruiz MC, Torello J, Sabath E, Sanchez A, Gomez M, Filipov I, Cox K, Kwan M, ... ... Gusella JF, et al. Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice. Nature Biotechnology. PMID 27376585 DOI: 10.1038/Nbt.3587  0.36
2016 Handley RR, Reid SJ, Patassini S, Rudiger SR, Obolonkin V, McLaughlan CJ, Jacobsen JC, Gusella JF, MacDonald ME, Waldvogel HJ, Bawden CS, Faull RL, Snell RG. Metabolic disruption identified in the Huntington's disease transgenic sheep model. Scientific Reports. 6: 20681. PMID 26864449 DOI: 10.1038/Srep20681  0.36
2016 Keum JW, Shin A, Gillis T, Mysore JS, Abu Elneel K, Lucente D, Hadzi T, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. American Journal of Human Genetics. 98: 287-298. PMID 26849111 DOI: 10.1016/J.Ajhg.2015.12.018  0.36
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 Labadorf A, Hoss AG, Lagomarsino V, Latourelle JC, Hadzi TC, Bregu J, MacDonald ME, Gusella JF, Chen JF, Akbarian S, Weng Z, Myers RH. RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression. Plos One. 10: e0143563. PMID 26636579 DOI: 10.1371/Journal.Pone.0143563  0.36
2015 Correia K, Harold D, Kim KH, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease. Journal of Huntington's Disease. 4: 279-84. PMID 26444025 DOI: 10.3233/Jhd-150169  0.36
2015 Lee JM, Kim KH, Shin A, Chao MJ, Abu Elneel K, Gillis T, Mysore JS, Kaye JA, Zahed H, Kratter IH, Daub AC, Finkbeiner S, Li H, Roach JC, Goodman N, ... ... Gusella JF, et al. Sequence-Level Analysis of the Major European Huntington Disease Haplotype. American Journal of Human Genetics. 97: 435-44. PMID 26320893 DOI: 10.1016/J.Ajhg.2015.07.017  0.36
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 Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, et al. Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. Human Molecular Genetics. 24: 2442-57. PMID 25574027 DOI: 10.1093/Hmg/Ddv006  0.36
2015 Dietz KN, Di Stefano L, Maher RC, Zhu H, Macdonald ME, Gusella JF, Walker JA. The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development. Human Molecular Genetics. 24: 330-45. PMID 25168387 DOI: 10.1093/Hmg/Ddu446  0.36
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 Thompson MN, MacDonald ME, Gusella JF, Myre MA. Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum. Journal of Huntington's Disease. 3: 261-71. PMID 25300330 DOI: 10.3233/Jhd-140112  0.36
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
2012 Mattis VB, Svendsen SP, Ebert A, Svendsen CN, King AR, Casale M, Winokur ST, Batugedara G, Vawter M, Donovan PJ, Lock LF, Thompson LM, Zhu Y, Fossale E, Atwal RS, ... ... Gusella JF, et al. Induced pluripotent stem cells from patients with huntington’s disease show CAG repeat expansion associated phenotypes Cell Stem Cell. 11: 264-278. DOI: 10.1016/J.Stem.2012.04.027  0.36
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  0.36
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 Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, ... ... Gusella JF, et al. Disruption of neurexin 1 associated with autism spectrum disorder. American Journal of Human Genetics. 82: 199-207. PMID 18179900 DOI: 10.1016/J.Ajhg.2007.09.011  0.36
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 DOI: 10.1212/01.Wnl.0000095966.99430.F4  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 DOI: 10.1093/Hmg/11.19.2233  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 DOI: 10.1093/Hmg/11.6.633  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 DOI: 10.1212/Wnl.57.6.1124  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: 10.1038/35039051  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 DOI: 10.3109/01677060009083477  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 DOI: 10.1093/Hmg/9.14.2175  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 DOI: 10.1093/Hmg/9.4.503  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 DOI: 10.1212/Wnl.53.6.1330  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 DOI: 10.1016/S0304-419X(99)00005-0  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 DOI: 10.1159/000015189  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 DOI: 10.1097/00005072-199812000-00008  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 Gusella JF, MacDonald ME. Huntingtin: a single bait hooks many species. Current Opinion in Neurobiology. 8: 425-30. PMID 9687360 DOI: 10.1016/S0959-4388(98)80071-8  0.36
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 DOI: 10.1101/GAD.12.8.1121  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 DOI: 10.1007/Bf02673751  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 DOI: 10.1093/Hmg/6.5.775  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 Gusella JF, Persichetti F, MacDonald ME. The genetic defect causing Huntington's disease: repeated in other contexts? Molecular Medicine (Cambridge, Mass.). 3: 238-46. PMID 9131586 DOI: 10.1007/Bf03401677  0.36
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 DOI: 10.1101/Sqb.1996.061.01.063  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 DOI: 10.1055/S-2008-1063867  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 MacDonald ME, Gusella JF. Huntington's disease: translating a CAG repeat into a pathogenic mechanism. Current Opinion in Neurobiology. 6: 638-43. PMID 8937828 DOI: 10.1016/S0959-4388(96)80097-3  0.36
1996 Gusella JF, MacDonald ME. Trinucleotide instability: a repeating theme in human inherited disorders. Annual Review of Medicine. 47: 201-9. PMID 8712774 DOI: 10.1146/Annurev.Med.47.1.201  0.36
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 DOI: 10.1101/Gr.5.4.368  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 DOI: 10.1101/GR.5.3.214  0.4
1995 Gusella JF, MacDonald ME. Huntington's disease: CAG genetics expands neurobiology. Current Opinion in Neurobiology. 5: 656-62. PMID 8580718 DOI: 10.1016/0959-4388(95)80072-7  0.36
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 DOI: 10.1097/00005072-199501000-00006  0.52
1995 Kozman HM, Keith TP, Donis-Keller H, White RL, Weissenbach J, Dean M, Vergnaud G, Kidd K, Gusella J, Royle NJ. The CEPH consortium linkage map of human chromosome 16. Genomics. 25: 44-58. PMID 7774955 DOI: 10.1016/0888-7543(95)80108-X  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 DOI: 10.1111/J.1750-3639.1995.Tb00571.X  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 DOI: 10.1097/00005072-199509000-00002  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 Gusella JF, MacDonald ME. Huntington's disease. Seminars in Cell Biology. 6: 21-8. PMID 7620118 DOI: 10.1016/1043-4682(95)90011-X  0.36
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 DOI: 10.1126/Science.7618107  0.52
1995 Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Rimmler JB, Locke PA, Conneally PM, Schmader KE, Tanzi RE. Apolipoprotein E, survival in Alzheimer's disease patients, and the competing risks of death and Alzheimer's disease. Neurology. 45: 1323-8. PMID 7617191 DOI: 10.1212/Wnl.45.7.1323  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 DOI: 10.1006/Nbdi.1994.0019  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 Ambrose CM, Duyao MP, Barnes G, Bates GP, Lin CS, Srinidhi J, Baxendale S, Hummerich H, Lehrach H, Altherr M. Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somatic Cell and Molecular Genetics. 20: 27-38. PMID 8197474 DOI: 10.1007/Bf02257483  0.52
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 Hummerich H, Baxendale S, Mott R, Kirby SF, MacDonald ME, Gusella J, Lehrach H, Bates GP. Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene. Human Molecular Genetics. 3: 73-8. PMID 8162055 DOI: 10.1093/Hmg/3.1.73  0.52
1994 Gusella JF, MacDonald ME. Huntington's disease and repeating trinucleotides. The New England Journal of Medicine. 330: 1450-1. PMID 8159202 DOI: 10.1056/Nejm199405193302011  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 DOI: 10.1126/Science.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 DOI: 10.1093/Hmg/3.3.407  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 Barnes GT, Duyao MP, Ambrose CM, McNeil S, Persichetti F, Srinidhi J, Gusella JF, MacDonald ME. Mouse Huntington's disease gene homolog (Hdh). Somatic Cell and Molecular Genetics. 20: 87-97. PMID 8009370 DOI: 10.1007/Bf02290678  0.36
1994 Grosson CL, MacDonald ME, Duyao MP, Ambrose CM, Roffler-Tarlov S, Gusella JF. Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 5: 424-8. PMID 7919654 DOI: 10.1007/Bf00357002  0.36
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 DOI: 10.1093/Hmg/3.10.1841  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 Tagle DA, Blanchard-McQuate KL, Valdes J, Castilla L, MacDonald ME, Gusella JF, Collins FS. Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus. Human Molecular Genetics. 2: 489. PMID 8504314 DOI: 10.1093/Hmg/2.4.489  0.36
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 DOI: 10.1093/Hmg/2.3.305  0.52
1993 Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell. 72: 791-800. PMID 8453669 DOI: 10.1016/0092-8674(93)90406-G  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 Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genetics. 4: 393-7. PMID 8401588 DOI: 10.1038/Ng0893-393  0.36
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 DOI: 10.1093/Hmg/2.6.745  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 DOI: 10.1212/Wnl.43.8.1467  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 Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nature Genetics. 5: 344-50. PMID 8298641 DOI: 10.1038/Ng1293-344  0.52
1993 Myers RH, MacDonald ME, Koroshetz WJ, Duyao MP, Ambrose CM, Taylor SA, Barnes G, Srinidhi J, Lin CS, Whaley WL. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nature Genetics. 5: 168-73. PMID 8252042 DOI: 10.1038/ng1093-168  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 DOI: 10.1212/Wnl.43.11.2275  0.52
1993 Gusella JF, MacDonald ME. Hunting for Huntington's disease. Molecular Genetic Medicine. 3: 139-58. PMID 8220162 DOI: 10.1016/B978-0-12-462003-2.50009-2  0.36
1993 Gusella JF, MacDonald ME, Ambrose CM, Duyao MP. Molecular genetics of Huntington's disease. Archives of Neurology. 50: 1157-63. PMID 8215974 DOI: 10.1001/Archneur.1993.00540110037003  0.36
1993 Myers RH, MacDonald ME, Gusella JF. Discrepancy resolved. Nature Genetics. 5: 215. PMID 8110292 DOI: 10.1038/ng1193-215b  0.52
1993 Watanabe M, Kondo I, Nissato S, Wakisaka A, Toda T, Ikeda J, Wasmuth JJ, Gusella JF, Kanazawa I. A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families. The Japanese Journal of Human Genetics. 38: 193-201. PMID 8102909 DOI: 10.1007/BF01883710  0.36
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 Haines JL, Yan WL, Boustany RM, Jewell A, Julier C, Breakefield XO, Gusella JF. Linkage analysis in juvenile neuronal ceroid lipofuscinosis. American Journal of Medical Genetics. 42: 542-5. PMID 1609835 DOI: 10.1002/Ajmg.1320420424  0.44
1992 Baxter LR, Mazziotta JC, Pahl JJ, Grafton ST, St George-Hyslop P, Haines JL, Gusella JF, Szuba MP, Selin CE, Guze BH. Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease. Archives of General Psychiatry. 49: 148-54. PMID 1532304 DOI: 10.1001/Archpsyc.1992.01820020068009  0.52
1992 Allitto BA, McClatchey AI, Barnes G, Altherr M, Wasmuth J, Frischauf AM, MacDonald ME, Gusella J. Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4. Molecular and Cellular Probes. 6: 513-20. PMID 1480191 DOI: 10.1016/0890-8508(92)90048-3  0.36
1992 Scott HS, Nelson PV, MacDonald ME, Gusella JF, Hopwood JJ, Morris CP. An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. Genomics. 14: 1118-20. PMID 1478658 DOI: 10.1016/S0888-7543(05)80145-4  0.36
1992 Grafton ST, Mazziotta JC, Pahl JJ, St George-Hyslop P, Haines JL, Gusella J, Hoffman JM, Baxter LR, Phelps ME. Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. Archives of Neurology. 49: 1161-7. PMID 1444883 DOI: 10.1001/Archneur.1992.00530350075022  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 DOI: 10.1016/S0888-7543(05)80173-9  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 Altherr MR, Plummer S, Bates G, MacDonald M, Taylor S, Lehrach H, Frischauf AM, Gusella JF, Boehnke M, Wasmuth JJ. Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. Genomics. 13: 1040-6. PMID 1387106 DOI: 10.1016/0888-7543(92)90017-M  0.36
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 Ramesh V, Cheng SV, Kozak CA, Herron BJ, Shih VE, Taylor BA, Gusella JF. Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 3: 17-22. PMID 1349842 DOI: 10.1007/Bf00355836  0.56
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 DOI: 10.1159/000133208  0.52
1992 Taylor SA, Barnes GT, MacDonald ME, Gusella JF. A dinucleotide repeat polymorphism at the D4S127 locus. Human Molecular Genetics. 1: 142. PMID 1339471 DOI: 10.1093/Hmg/1.2.142-A  0.36
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 McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH, Gusella JF. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita Cell. 68: 769-774. PMID 1310898 DOI: 10.1016/0092-8674(92)90151-2  0.52
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 Bates GP, Valdes J, Hummerich H, Baxendale S, Le Paslier DL, Monaco AP, Tagle D, MacDonald ME, Altherr M, Ross M. Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region. Nature Genetics. 1: 180-7. PMID 1303232 DOI: 10.1038/Ng0692-180  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 DOI: 10.1073/Pnas.89.24.11988  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 DOI: 10.1073/Pnas.89.22.10758  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 DOI: 10.1111/J.1749-6632.1991.Tb37776.X  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 Konradi C, Ozelius L, Yan W, Gusella JF, Breakefield XO. Dinucleotide repeat polymorphism (D16S285) on human chromosome 16. Nucleic Acids Research. 19: 5449. PMID 1923837 DOI: 10.1093/NAR/19.19.5449  0.52
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 Doucette-Stamm LA, Riba L, Handelin B, Difilippantonio M, Ward DC, Wasmuth JJ, Gusella JF, Housman DE. Generation and characterization of irradiation hybrids of human chromosome 4. Somatic Cell and Molecular Genetics. 17: 471-80. PMID 1837181 DOI: 10.1007/Bf01233171  0.48
1991 MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF. Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somatic Cell and Molecular Genetics. 17: 421-5. PMID 1832239 DOI: 10.1007/Bf01233067  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 DOI: 10.1016/0960-8966(91)90095-A  0.64
1991 Baxendale S, Bates GP, MacDonald ME, Gusella JF, Lehrach H. The direct screening of cosmid libraries with YAC clones. Nucleic Acids Research. 19: 6651. PMID 1754409 DOI: 10.1093/Nar/19.23.6651  0.52
1991 Lin CS, Altherr M, Bates G, Whaley WL, Read AP, Harris R, Lehrach H, Wasmuth JJ, Gusella JF, MacDonald ME. New DNA markers in the Huntington's disease gene candidate region. Somatic Cell and Molecular Genetics. 17: 481-8. PMID 1684879 DOI: 10.1007/BF01233172  0.52
1991 Lazarou LP, Snell RG, MacDonald ME, Gusella JF, Wasmuth JJ, Shaw DJ. MboI RFLP at the D4S43 (C4H) locus. Nucleic Acids Research. 19: 5445. PMID 1681512 DOI: 10.1093/Nar/19.19.5445-A  0.36
1991 Horn GT, McClatchey AI, Richards B, MacDonald ME, Gusella JF. Detection by PCR of a VNTR polymorphism at D4S43. Nucleic Acids Research. 19: 4772. PMID 1679922 DOI: 10.1093/Nar/19.17.4772  0.36
1991 Schuback D, Kramer P, Ozelius L, Holmgren G, Forsgren L, Kyllerman M, Wahlström J, Craft CM, Nygaard T, Brin M, de Leon D, Bressman S, Moskowitz CB, Burke RE, Sanner G, ... ... Gusella JF, et al. Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia Human Genetics. 87: 311-316. PMID 1677923 DOI: 10.1007/BF00200910  0.52
1991 Allitto BA, Horn GT, Altherr MR, Richards B, McClatchey AI, Wasmuth JJ, Gusella JF. Detection by PCR of the VNTR polymorphism at D4S95. Nucleic Acids Research. 19: 4015. PMID 1677758 DOI: 10.1093/nar/19.14.4015-a  0.36
1991 Thompson LM, Plummer S, Schalling M, Altherr MR, Gusella JF, Housman DE, Wasmuth JJ. A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. Genomics. 11: 1133-42. PMID 1664411 DOI: 10.1016/0888-7543(91)90041-C  0.52
1990 St George-Hyslop PH, Haines JL, Farrer LA, Polinsky R, Van Broeckhoven C, Goate A, McLachlan DR, Orr H, Bruni AC, Sorbi S, Rainero I, Foncin JF, Pollen D, Cantu JM, Tupler R, ... ... Gusella JF, et al. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature. 347: 194-7. PMID 2395471 DOI: 10.1038/347194A0  0.52
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 DOI: 10.1016/0888-7543(90)90163-O  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 Haines JL, Ozelius LJ, McFarlane H, Menon A, Tzall S, Martiniuk F, Hirschhorn R, Gusella JF. A genetic linkage map of chromosome 17. Genomics. 8: 1-6. PMID 2081586 DOI: 10.1016/0888-7543(90)90218-J  0.52
1990 Grafton ST, Mazziotta JC, Pahl JJ, St George-Hyslop P, Haines JL, Gusella J, Hoffman JM, Baxter LR, Phelps ME. A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease. Annals of Neurology. 28: 614-21. PMID 1979723 DOI: 10.1002/Ana.410280503  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 DOI: 10.1159/000116477  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 DOI: 10.1017/S0317167100029772  0.56
1989 MacDonald ME, Haines JL, Zimmer M, Cheng SV, Youngman S, Whaley WL, Wexler N, Bucan M, Allitto BA, Smith B. Recombination events suggest potential sites for the Huntington's disease gene. Neuron. 3: 183-90. PMID 2576211 DOI: 10.1016/0896-6273(89)90031-7  0.52
1989 Youngman S, Sarfarazi M, Bucan M, MacDonald M, Smith B, Zimmer M, Gilliam C, Frischauf AM, Wasmuth JJ, Gusella JF, Lehrach H, Harper PS, Shaw DJ. A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene Genomics. 5: 802-809. PMID 2574148 DOI: 10.1016/0888-7543(89)90122-5  0.52
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 Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon AG, Gusella JF, Michels VV, Schmidt MA, Dewald GW, Collins FS. Physical mapping of a translocation breakpoint in neurofibromatosis Science. 244: 1085-1087. PMID 2543076 DOI: 10.1126/Science.2543076  0.52
1989 Irwin CC, Wexler NS, Young AB, Ozelius LJ, Penney JB, Shoulson I, Snodgrass SR, Ramos-Arroyo MA, Sanchez-Ramos J, Penchaszadeh GK. The role of mitochondrial DNA in Huntington's disease. Journal of Molecular Neuroscience : Mn. 1: 129-36. PMID 2534902 DOI: 10.1007/Bf02896896  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 Sax DS, Bird ED, Gusella JF, Myers RH. Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4. Neurology. 39: 1332-6. PMID 2529452 DOI: 10.1212/Wnl.39.10.1332  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
1989 St George-Hyslop PH, Myers RH, Haines JL, Farrer LA, Tanzi RE, Conneally PM, Polinsky RJ, Gusella JF. Authors' response to commentaries Neurobiology of Aging. 10: 446-448. DOI: 10.1016/0197-4580(89)90094-8  0.52
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 DOI: 10.1016/0888-7543(88)90140-1  0.56
1988 Geissler EN, Cheng SV, Gusella JF, Housman DE. Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W. Proceedings of the National Academy of Sciences of the United States of America. 85: 9635-9. PMID 3200849  0.56
1988 Wu J, Ramesh V, Kidd JR, Castiglione CM, Myers S, Carson N, Anderson L, Gusella JF, Simpson NE, Kidd KK. The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10 Cytogenetic and Genome Research. 48: 126-127. PMID 3197452 DOI: 10.1159/000132606  0.52
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 DOI: 10.1093/Nar/16.24.11848  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 Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, Collins FS. Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. Proceedings of the National Academy of Sciences of the United States of America. 85: 6437-41. PMID 2901098 DOI: 10.1073/Pnas.85.17.6437  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 DOI: 10.1073/Pnas.85.16.6032  0.56
1988 Youngman S, Shaw DJ, Gusella JF, Macdonald M, Stanbridge EJ, Wasmuth J, Harper PS. A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3 Nucleic Acids Research. 16: 1648. PMID 2894638 DOI: 10.1093/Nar/16.4.1648  0.52
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 DOI: 10.1093/Nar/16.4.1646  0.64
1988 Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farmer GE, Lamiell JM, Haines J, Yuen JW, Collins D, Majoor-Krakauer D. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 332: 268-9. PMID 2894613 DOI: 10.1038/332268A0  0.52
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 Meissen GJ, Myers RH, Mastromauro CA, Koroshetz WJ, Klinger KW, Farrer LA, Watkins PA, Gusella JF, Bird ED, Martin JB. Predictive testing for Huntington's disease with use of a linked DNA marker. The New England Journal of Medicine. 318: 535-42. PMID 2893260 DOI: 10.1056/Nejm198803033180903  0.52
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 Seizinger BR, Martuza RL, Rouleau G, Breakefield XO, Gusella JF. Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis. Developmental Neuroscience. 9: 144-53. PMID 3119309 DOI: 10.1159/000111618  0.52
1987 Seizinger BR, Rouleau G, Ozelius LJ, Lane AH, St George-Hyslop P, Huson S, Gusella JF, Martuza RL. Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science (New York, N.Y.). 236: 317-9. PMID 3105060 DOI: 10.1126/Science.3105060  0.52
1987 Seizinger BR, de la Monte S, Atkins L, Gusella JF, Martuza RL. Molecular genetic approach to human meningioma: loss of genes on chromosome 22. Proceedings of the National Academy of Sciences of the United States of America. 84: 5419-23. PMID 3037550 DOI: 10.1073/Pnas.84.15.5419  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 MacDonald ME, Anderson MA, Gilliam TC, Tranejaerg L, Carpenter NJ, Magenis E, Hayden MR, Healey ST, Bonner TI, Gusella JF. A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics. 1: 29-34. PMID 2889660 DOI: 10.1016/0888-7543(87)90101-7  0.52
1987 MacDonald ME, Anderson MA, Lockyer JL, Milstien S, Hobbs WJ, Faryniarz AG, Kaufman S, Ledley FD, Woo SL, Gusella JF. Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4. Somatic Cell and Molecular Genetics. 13: 569-74. PMID 2889272 DOI: 10.1007/Bf01534498  0.44
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 Simpson NE, Kidd KK, Goodfellow PJ, McDermid H, Myers S, Kidd JR, Jackson CE, Duncan AM, Farrer LA, Brasch K. Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature. 328: 528-30. PMID 2886918 DOI: 10.1038/328528A0  0.52
1987 Gilliam TC, Tanzi RE, Haines JL, Bonner TI, Faryniarz AG, Hobbs WJ, MacDonald ME, Cheng SV, Folstein SE, Conneally PM. Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell. 50: 565-71. PMID 2886227 DOI: 10.1016/0092-8674(87)90029-8  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 DOI: 10.1136/Jmg.24.5.257  0.56
1987 Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Faryniarz AG, Chao MV, Huson S, Korf BR, Parry DM, Pericak-Vance MA. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell. 49: 589-94. PMID 2884037 DOI: 10.1016/0092-8674(87)90534-4  0.52
1987 Gilliam TC, Healey ST, MacDonald ME, Stewart GD, Wasmuth JJ, Tanzi RE, Roy JC, Gusella JF. Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Research. 15: 1445-58. PMID 2881276 DOI: 10.1093/Nar/15.4.1445  0.52
1987 Wexler NS, Young AB, Tanzi RE, Travers H, Starosta-Rubinstein S, Penney JB, Snodgrass SR, Shoulson I, Gomez F, Ramos Arroyo MA. Homozygotes for Huntington's disease. Nature. 326: 194-7. PMID 2881213 DOI: 10.1038/326194A0  0.52
1986 Seizinger BR, Tanzi RE, Gilliam TC, Bader JL, Parry DM, Spence MA, Marazita ML, Gibbons K, Hobbs W, Gusella JF. Genetic linkage analysis of neurofibromatosis with DNA markers. Annals of the New York Academy of Sciences. 486: 304-10. PMID 3105395 DOI: 10.1111/J.1749-6632.1986.Tb48083.X  0.32
1986 Seizinger BR, Martuza RL, Gusella JF. Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature. 322: 644-7. PMID 3092103 DOI: 10.1038/322644a0  0.52
1986 Youngman S, Sarfarazi M, Quarrell OWJ, Conneally PM, Gibbons K, Harper PS, Shaw DJ, Tanzi RE, Wallace MR, Gusella JF. Studies of a DNA marker (G8) genetically linked to Huntington disease in British families Human Genetics. 73: 333-339. PMID 3017842 DOI: 10.1007/Bf00279096  0.52
1986 Gusella JF, Gilliam TC, Tanzi RE, MacDonald ME, Cheng SV, Wallace M, Haines J, Conneally PM, Wexler NS. Molecular genetics of Huntington's disease. Cold Spring Harbor Symposia On Quantitative Biology. 51: 359-64. PMID 2884064 DOI: 10.1101/Sqb.1986.051.01.043  0.52
1986 Martin JB, Gusella JF. Huntington's disease. Pathogenesis and management. The New England Journal of Medicine. 315: 1267-76. PMID 2877396 DOI: 10.1056/NEJM198611133152006  0.52
1985 Kidd KK, Gusella J. Report of the committee on the genetic constitution of chromosomes 3 and 4 Cytogenetics and Cell Genetics. 40: 107-127. PMID 3864591 DOI: 10.1159/000132171  0.52
1985 Wexler NS, Conneally PM, Housman D, Gusella JF. A DNA Polymorphism for Huntington's Disease Marks the Future Archives of Neurology. 42: 20-24. PMID 3155610 DOI: 10.1001/Archneur.1985.04060010026009  0.52
1985 Harper PS, Youngman S, Anderson MA, Sarfarazi M, Quarrell O, Tanzi R, Shaw D, Wallace P, Conneally PM, Gusella JF. Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families Journal of Medical Genetics. 22: 447-450. PMID 3001311 DOI: 10.1136/Jmg.22.6.447  0.52
1985 Stewart GD, Tanzi RE, Gusella JF. RFLPS at the D21S19 locus of human chromosome 21. Nucleic Acids Research. 13: 7168. PMID 2997741 DOI: 10.1093/Nar/13.19.7168  0.32
1985 Gusella JF, Tanzi RE, Watkins PC, Gibbons KT, Hobbs WJ, Faryniarz AG, Healey ST, Anderson MA. Genetic linkage map for chromosome 21. Annals of the New York Academy of Sciences. 450: 25-31. PMID 2990310 DOI: 10.1111/J.1749-6632.1985.Tb21480.X  0.56
1984 Amos JA, Fleming BC, Gusella JF, Jacoby LB. Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts. Biochimica Et Biophysica Acta. 782: 247-53. PMID 6733108 DOI: 10.1016/0167-4781(84)90059-9  0.52
1984 Fisher JH, Gusella JF, Scoggin CH. Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations. Proceedings of the National Academy of Sciences of the United States of America. 81: 520-4. PMID 6582508 DOI: 10.1073/PNAS.81.2.520  0.52
1984 Anderson MA, Gusella JF. Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines In Vitro. 20: 856-858. PMID 6519667 DOI: 10.1007/BF02619631  0.52
1984 Gusella JF, Tanzi RE, Anderson MA, Hobbs W, Gibbons K, Raschtchian R, Gilliam TC, Wallace MR, Wexler NS, Conneally PM. DNA markers for nervous system diseases Science. 225: 1320-1326. PMID 6089346 DOI: 10.1126/science.6089346  0.52
1984 Minden M, Gusella J, Housman D. Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells Blood. 64: 842-846. DOI: 10.1182/Blood.V64.4.842.Bloodjournal644842  0.32
1982 Gusella JF, Jones C, Kao FT, Housman D, Puck TT. Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 79: 7804-8. PMID 6961451 DOI: 10.1073/Pnas.79.24.7804  0.52
1982 Housman D, Kidd K, Gusella JF. Recombinant DNA approach to neurogenetic disorders Trends in Neurosciences. 5: 320-323. DOI: 10.1016/0166-2236(82)90192-8  0.52
1980 Gusella JF, Keys C, VarsanyiBreiner A, Kao FT, Jones C, Puck TT, Housman D. Isolation and localization of DNA segments from specific human chromosomes. Proceedings of the National Academy of Sciences of the United States of America. 77: 2829-33. PMID 6930670 DOI: 10.1073/Pnas.77.5.2829  0.56
1980 Gusella J, Weil S, Tsiftsoglou A, Volloch V, Neumann J, Keys C, Housman D. Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation Blood. 56: 481-487. DOI: 10.1182/BLOOD.V56.3.481.481  0.32
1979 Gusella J, Varsanyi-Breiner A, Kao FT, Jones C, Puck TT, Keys C, Orkin S, Housman D. Precise localization of human beta-globin gene complex on chromosome 11. Proceedings of the National Academy of Sciences of the United States of America. 76: 5239-42. PMID 291941 DOI: 10.1073/Pnas.76.10.5239  0.52
1979 Varsanyi-Breiner A, Gusella JF, Keys C, Housman DE, Sullivan D, Brisson N, Verma DP. The organization of a nuclear DNA sequence from a higher plant: molecular cloning and characterization of soybean ribosomal DNA. Gene. 7: 317-34. PMID 160361 DOI: 10.1016/0378-1119(79)90051-9  0.52
1976 Gusella JF, Housman D. Induction of erythroid differentiation in vitro by purines and purine analogues. Cell. 8: 263-9. PMID 971485 DOI: 10.1016/0092-8674(76)90010-6  0.64
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