Chief Fellow - Children's Hospital of Philadelphia, Philadelphia, PA
Diplomate – American Board of Medical Genetics and Genomics (DABMG)
PhD - Indiana University, Bloomington, IN
Post-Doctoral Research Associate - Massachusetts General Hospital, Boston, MA
Laboratory Director, Division of Genomic Diagnostics
Associate Program Director, Laboratory Genetics and Genomics Fellowship Program
Associate Professor of Clinical Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
Stevens SJC, Stumpel CTRM, Diderich KEM, van Slegtenhorst MA, Abbott MA, Manning C, Balciuniene J, Pyle LC, Leonard J, Murrell JR, van de Putte R, van Rooij IALM, Hoischen A, Lasko P, Brunner HG.: The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene. Clin Genet 101, Feb 2022.
Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB.: Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? J Mol Diagn March 2022.
Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, Chedaheh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Strong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K.: Expanding the phenotypic spectrum of ARCN1-related syndrome. Genet Med 2022.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Murrell J, et al.: Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med March 2021.
Abrahamson EE, Kofler JK, Becker CR, Price JC, Newell KL, Ghetti B, Murrell JR, McLean CA, Lopez OL, Mathis CA, Klunk WE, Villemagne VL, Ikonomovic MD.: 11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous Brain Dec 2021.
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Murrell J, et al.: MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain 143: 55-68, January 2020.
Rajagopalan R, Murrell JR, Luo M, Conlin LK.: A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. Genome Med 12, January 2020.
Vissers L, Kalvakuri S, de Boer E, Geuer S, Oud M, Murrell J, et al.: De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. American Journal of Human Genetics 107(1): 164-172, June 2020.
Chauhan G, Adams HHH, Satizabal CL, Bis JC, Teumer A, Murrell J, et al; Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.: Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. Neurology. January 2019.
Newell K, Paron F, Mompean M, Murrell J, Salis E, Stuani C, Pattee G, Romano M, Laurents D, Ghetti B, Buratti E. : Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant. Brain Pathol 29(3): 397-413, May 2019.
Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB: Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. J Mol Diagn 21(1), 2019.
Gondim DD, Oblak A, Murrell JR, Richardson R, Epperson F, Ross OA, Ghetti B.: Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation. J. Neuropathol Exp Neurol 2019.
Peloso GM, van der Lee SJ; International Genomics of Alzheimer's Project (IGAP), Destefano AL, Seshardi S, Murrell J, et al.: Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease. Alzheimers Dement 10, 2018.
Risacher SL, Farlow MR, Bateman DR, Epperson F, Tallman EF, Richardson R, Murrell JR, Unverzagt FW, Apostolova LG, Bonnin JM, Ghetti B, Saykin AJ. : Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [18F]Flortaucipir PET. Acta Neuropathol Commun 6(1), 2018.
Santani, A., Murrell, J., Funke, B., Yu, Z., Hegde, M., Mao, R., Ferreira-Gonzalez, A., Voelkerding, K. V., Weck, K. E.: Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases. Arch Pathol Lab Med 141(6): 787-797, Jun 2017.
Jun Gyungah R, Chung Jaeyoon, Mez Jesse, Barber Robert, Beecham Gary W, Murrell J, et al.: Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimer's & dementia : the journal of the Alzheimer's Association 13(7): 727-738, Jul 2017.
Brown, B. K., Murrell, J., Karne, H., Anand, A.: The effects of DAT1 genotype on fMRI activation in an emotional go/no-go task. Brain Imaging Behav 11(1): 185-193, 2017.
Raj, T., Chibnik, L. B., McCabe, C., Wong, A., Replogle, J. M., Yu, L., Gao, S., Unverzagt, F. W., Stranger, B., Murrell, J., Barnes, L., Hendrie, H. C., Foroud, T., Krichevsky, A., Bennett, D. A., Hall, K. S., Evans, D. A., De Jager, P. L.: Genetic architecture of age-related cognitive decline in African Americans. Neurol Genet 3(1): e125, 2017.
Sims, R., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Murrell J, et al.: Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer''s disease. Nat Genet 49(9): 1373-1384, 2017.
Kim, S., Nho, K., Ramanan, V. K., Lai, D., Foroud, T. M., Lane, K., Murrell, J. R., Gao, S., Hall, K. S., Unverzagt, F. W., Baiyewu, O., Ogunniyi, A., Gureje, O., Kling, M. A., Doraiswamy, P. M., Kaddurah-Daouk, R., Hendrie, H. C., Saykin, A. J.: Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians. J Alzheimers Dis 49(4): 991-1003, 2016.
Karch Celeste M, Ezerskiy Lubov A, Bertelsen Sarah, Goate Alison M, Murrell J, et al. Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci. PloS one 11(2): e0148717, 2016.
Hohman, T. J., Cooke-Bailey, J. N., Reitz, C., Jun, G., Naj, A., Murrell J, et al. Alzheimer Disease Genetics, Consortium: Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. Alzheimers Dement 12(3): 233-43, 2016.
Gao, S., Ogunniyi, A., Hall, K. S., Baiyewu, O., Unverzagt, F. W., Lane, K. A., Murrell, J. R., Gureje, O., Hake, A. M., Hendrie, H. C.: Dementia incidence declined in African-Americans but not in Yoruba. Alzheimers Dement 12(3): 244-51, 2016.
Deters, K. D., Risacher, S. L., Yoder, K. K., Oblak, A. L., Unverzagt, F. W., Murrell, J. R., Epperson, F., Tallman, E. F., Quaid, K. A., Farlow, M. R., Saykin, A. J., Ghetti, B.: [(11)C]PiB PET in Gerstmann-Straussler-Scheinker disease. Am J Nucl Med Mol Imaging 6(1): 84-93, 2016.
Dardis, A., Zampieri, S., Canterini, S., Newell, K. L., Stuani, C., Murrell, J. R., Ghetti, B., Fiorenza, M. T., Bembi, B., Buratti, E.: Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. Acta Neuropathol Commun 4(1): 52, 2016.
Anand, A., McClintick, J. N., Murrell, J., Karne, H., Nurnberger, J. I., Edenberg, H. J.: Effects of Lithium Monotherapy for Bipolar Disorder on Gene Expression in Peripheral Lymphocytes. Mol Neuropsychiatry 2(3): 115-123, 2016.
Ridge Perry G, Hoyt Kaitlyn B, Boehme Kevin, Mukherjee Shubhabrata, Crane Paul K, Murrell J, et al. Assessment of the genetic variance of late-onset Alzheimer's disease. Neurobiology of aging 41: 200.e13-200.e20, May 2016.
Wang, L. S., Naj, A. C., Graham, R. R., Crane, P. K., Kunkle, B. W., Murrell J, et al. Rarity of the Alzheimer disease-protective APP A673T variant in the United States. JAMA Neurol 72(2): 209-16, 2015.
Kertesz, A., Finger, E., Murrell, J., Chertkow, H., Ang, L. C., Baker, M., Ravenscroft, T., Rademakers, R., Munoz, D. G.: Progressive supranuclear palsy in a family with TDP-43 pathology. Neurocase 21(2): 178-84, 2015.
Jin, S. C., Carrasquillo, M. M., Benitez, B. A., Skorupa, T., Carrell, D., Patel, D., Lincoln, S., Krishnan, S., Kachadoorian, M., Reitz, C., Mayeux, R., Wingo, T. S., Lah, J. J., Levey, A. I., Murrell, J., Hendrie, H., Foroud, T., Graff-Radford, N. R., Goate, A. M., Cruchaga, C., Ertekin-Taner, N.: TREM2 is associated with increased risk for Alzheimer's disease in African Americans. Mol Neurodegener 10: 19, 2015.
Hendrie, H. C., Hake, A., Lane, K., Purnell, C., Unverzagt, F., Smith-Gamble, V., Murrell, J., Ogunniyi, A., Baiyewu, O., Callahan, C., Saykin, A., Taylor, S., Hall, K., Gao, S.: Statin Use, Incident Dementia and Alzheimer Disease in Elderly African Americans. Ethn Dis 25(3): 345-54, 2015.
Ghani, M., Reitz, C., Cheng, R., Vardarajan, B. N., Jun, G., Murrell J, et al. Alzheimer's Disease Genetics, Consortium: Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. JAMA Neurol 72(11): 1313-23, 2015.
Ehrlich, M., Hallmann, A. L., Reinhardt, P., Arauzo-Bravo, M. J., Korr, S., Ropke, A., Psathaki, O. E., Ehling, P., Meuth, S. G., Oblak, A. L., Murrell, J. R., Ghetti, B., Zaehres, H., Scholer, H. R., Sterneckert, J., Kuhlmann, T., Hargus, G.: Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein. Stem Cell Reports 5(1): 83-96, 2015.
Naj, A. C., Jun, G., Reitz, C., Kunkle, B. W., Perry, W., Murrell J, et al. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. JAMA Neurol 71(11): 1394-404, 2014.
Liachko, N. F., McMillan, P. J., Strovas, T. J., Loomis, E., Greenup, L., Murrell, J. R., Ghetti, B., Raskind, M. A., Montine, T. J., Bird, T. D., Leverenz, J. B., Kraemer, B. C.: The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43. PLoS Genet 10(12): e1004803, 2014.
Hoffmann, S., Murrell, J., Harms, L., Miller, K., Meisel, A., Brosch, T., Scheel, M., Ghetti, B., Goebel, H. H., Stenzel, W.: Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Brain Pathol 24(5): 452-8, 2014.
Hendrie, H. C., Murrell, J., Baiyewu, O., Lane, K. A., Purnell, C., Ogunniyi, A., Unverzagt, F. W., Hall, K., Callahan, C. M., Saykin, A. J., Gureje, O., Hake, A., Foroud, T., Gao, S.: APOE epsilon4 and the risk for Alzheimer disease and cognitive decline in African Americans and Yoruba. Int Psychogeriatr 26(6): 977-85, 2014.
Gao, S., Unverzagt, F. W., Hall, K. S., Lane, K. A., Murrell, J. R., Hake, A. M., Smith-Gamble, V., Hendrie, H. C.: Mild cognitive impairment, incidence, progression, and reversion: findings from a community-based cohort of elderly African Americans. Am J Geriatr Psychiatry 22(7): 670-81, 2014.
Gao, S., Jin, Y., Unverzagt, F. W., Cheng, Y., Su, L., Wang, C., Ma, F., Hake, A. M., Kettler, C., Chen, C., Liu, J., Bian, J., Li, P., Murrell, J. R., Clark, D. O., Hendrie, H. C.: Cognitive function, body mass index and mortality in a rural elderly Chinese cohort. Arch Public Health 72(1): 9, 2014.
Gallagher, M. D., Suh, E., Grossman, M., Elman, L., McCluskey, L., Murrell J, et al. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol 127(3): 407-18, 2014.
Deters, K. D., Risacher, S. L., Farlow, M. R., Unverzagt, F. W., Kareken, D. A., Hutchins, G. D., Yoder, K. K., Murrell, J. R., Spina, S., Epperson, F., Gao, S., Saykin, A. J., Ghetti, B.: Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers. Am J Neurodegener Dis 3(3): 103-14, 2014.
Cheng, Y., Jin, Y., Unverzagt, F. W., Su, L., Yang, L., Ma, F., Hake, A. M., Kettler, C., Chen, C., Liu, J., Bian, J., Li, P., Murrell, J. R., Hendrie, H. C., Gao, S.: The relationship between cholesterol and cognitive function is homocysteine-dependent. Clin Interv Aging 9: 1823-9, 2014.
Wang, H. X., Jin, Y., Hendrie, H. C., Liang, C., Yang, L., Cheng, Y., Unverzagt, F. W., Ma, F., Hall, K. S., Murrell, J. R., Li, P., Bian, J., Pei, J. J., Gao, S.: Late life leisure activities and risk of cognitive decline. J Gerontol A Biol Sci Med Sci 68(2): 205-13, 2013.
Spina, S., Van Laar, A. D., Murrell, J. R., Hamilton, R. L., Kofler, J. K., Epperson, F., Farlow, M. R., Lopez, O. L., Quinlan, J., DeKosky, S. T., Ghetti, B.: Phenotypic variability in three families with valosin-containing protein mutation. Eur J Neurol 20(2): 251-8, 2013.
Ridge Perry G, Mukherjee Shubhabrata, Crane Paul K, Kauwe John S K; Murrell J, et al. Alzheimer's disease: analyzing the missing heritability. PloS one 8(11): e79771, 2013.
Reitz, C., Jun, G., Naj, A., Rajbhandary, R., Vardarajan, B. N., Murrell J, et al. Alzheimer Disease Genetics, Consortium: Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E 4,and the risk of late-onset Alzheimer disease in African Americans. JAMA 309(14): 1483-92, 2013.
Miyashita Akinori, Koike Asako, Jun Gyungah, Wang Li-San, Takahashi Satoshi, Murrell J, et al. SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PloS one 8(4): e58618, 2013.
Lambert J C, Ibrahim-Verbaas C A, Harold D, Naj A C, Sims R, Bellenguez C, Murrell J, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature genetics 45(12): 1452-8, Dec 2013 Notes: Fenotype of patient samples along with the DNA.
Hendrie, H. C., Baiyewu, O., Lane, K. A., Purnell, C., Gao, S., Hake, A., Ogunniyi, A., Gureje, O., Unverzagt, F. W., Murrell, J., Deeg, M. A., Hall, K.: Homocysteine levels and dementia risk in Yoruba and African Americans. Int Psychogeriatr 25(11): 1859-66, 2013.
Garringer, H. J., Murrell, J., Sammeta, N., Gnezda, A., Ghetti, B., Vidal, R.: Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice. PLoS One 8(2): e56426, 2013.
Reitz Christiane, Mayeux Richard, Alzheimer's Disease Genetics Consortium: TREM2 and neurodegenerative disease. The New England journal of medicine 369(16): 1564-5, Oct 2013.
Yang, L., Unverzagt, F. W., Jin, Y., Hendrie, H. C., Liang, C., Hall, K. S., Cao, J., Ma, F., Murrell, J. R., Cheng, Y., Li, P., Bian, J., Gao, S.: Normative data for neuropsychological tests in a rural elderly Chinese cohort. Clin Neuropsychol 26(4): 641-53, 2012.
Whitcomb David C, LaRusch Jessica, Krasinskas Alyssa M, Klei Lambertus, Smith Jill P, Murrell J, et al. Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Nature genetics 44(12): 1349-54, Dec 2012 Notes: Fenotype of patient samples along with the DNA.
Gao, S., Jin, Y., Unverzagt, F. W., Liang, C., Hall, K. S., Cao, J., Ma, F., Murrell, J. R., Cheng, Y., Li, P., Bian, J., Hendrie, H. C.: Selenium level and depressive symptoms in a rural elderly Chinese cohort. BMC Psychiatry 12: 72, 2012.
Ferrari, R., Mok, K., Moreno, J. H., Cosentino, S., Goldman, J., Pietrini, P., Mayeux, R., Tierney, M. C., Kapogiannis, D., Jicha, G. A., Murrell, J. R., Ghetti, B., Wassermann, E. M., Grafman, J., Hardy, J., Huey, E. D., Momeni, P.: Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging 33(8): 1850 e1-11, 2012.
Ogunniyi, A., Lane, K. A., Baiyewu, O., Gao, S., Gureje, O., Unverzagt, F. W., Murrell, J. R., Smith-Gamble, V., Hall, K. S., Hendrie, H. C.: Hypertension and incident dementia in community-dwelling elderly Yoruba Nigerians. Acta Neurol Scand 124(6): 396-402, 2011.
Ogunniyi, A., Gao, S., Unverzagt, F. W., Baiyewu, O., Gureje, O., Nguyen, J. T., Smith-Gamble, V., Murrell, J. R., Hake, A. M., Hall, K. S., Hendrie, H. C.: Weight loss and incident dementia in elderly Yoruba Nigerians: a 10-year follow-up study. Int Psychogeriatr 23(3): 387-94, 2011.
Hagen, M. C., Murrell, J. R., Delisle, M. B., Andermann, E., Andermann, F., Guiot, M. C., Ghetti, B.: Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene. Brain Pathol 21(5): 575-82, 2011.
Espay, A. J., Spina, S., Houghton, D. J., Murrell, J. R., de Courten-Myers, G. M., Ghetti, B., Litvan, I.: Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease. J Neurol Neurosurg Psychiatry 82(7): 751-3, 2011.
Chen-Plotkin, A. S., Martinez-Lage, M., Sleiman, P. M., Hu, W., Greene, R., Murrell J, et al. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 68(4): 488-97, 2011.
Van Deerlin, V. M., Sleiman, P. M., Martinez-Lage, M., Chen-Plotkin, A., Wang, L. S., Murrell J, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 42(3): 234-9, 2010.
Kepe, V., Ghetti, B., Farlow, M. R., Bresjanac, M., Miller, K., Huang, S. C., Wong, K. P., Murrell, J. R., Piccardo, P., Epperson, F., Repovs, G., Smid, L. M., Petric, A., Siddarth, P., Liu, J., Satyamurthy, N., Small, G. W., Barrio, J. R.: PET of brain prion protein amyloid in Gerstmann-Straussler-Scheinker disease. Brain Pathol 20(2): 419-30, 2010.
Garringer, H. J., Murrell, J., D'Adamio, L., Ghetti, B., Vidal, R.: Modeling familial British and Danish dementia. Brain Struct Funct 214(2-3): 235-44, 2010.
Campbell, N. L., Boustani, M. A., Lane, K. A., Gao, S., Hendrie, H., Khan, B. A., Murrell, J. R., Unverzagt, F. W., Hake, A., Smith-Gamble, V., Hall, K.: Use of anticholinergics and the risk of cognitive impairment in an African American population. Neurology 75(2): 152-9, 2010.
Kovacs, G. G., Murrell, J. R., Horvath, S., Haraszti, L., Majtenyi, K., Molnar, M. J., Budka, H., Ghetti, B., Spina, S.: TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov Disord 24(12): 1843-7, 2009.
Hamilton JA, Steinrauf LK, Braden BC, Murrell JR, Benson MD (2009) : Structural changes in transthyretin produced by the Ile 84 Ser mutation which result in decreased affinity for retinol-binding protein, Amyloid, 3:1, 1-12, DOI: 10.3109/13506129609014349. Amyloid 3(1): 1-12, 2009 Notes: Received 16 Feb 1995, Accepted 13 Jun 1995, Published online: 06 Jul 2009https://doi.org/10.3109/13506129609014349
Hall, K. S., Gao, S., Baiyewu, O., Lane, K. A., Gureje, O., Shen, J., Ogunniyi, A., Murrell, J. R., Unverzagt, F. W., Dickens, J., Smith-Gamble, V., Hendrie, H. C.: Prevalence rates for dementia and Alzheimer's disease in African Americans: 1992 versus 2001. Alzheimers Dement 5(3): 227-33, 2009.
Gao, S., Jin, Y., Unverzagt, F. W., Liang, C., Hall, K. S., Ma, F., Murrell, J. R., Cheng, Y., Matesan, J., Li, P., Bian, J., Hendrie, H. C.: Correlates of depressive symptoms in rural elderly Chinese. Int J Geriatr Psychiatry 24(12): 1358-66, 2009.
Gao, S., Jin, Y., Unverzagt, F. W., Liang, C., Hall, K. S., Ma, F., Murrell, J. R., Cheng, Y., Matesan, J., Bian, J., Li, P., Hendrie, H. C.: Hypertension and cognitive decline in rural elderly Chinese. J Am Geriatr Soc 57(6): 1051-7, 2009.
Gao, S., Jin, Y., Hall, K. S., Liang, C., Unverzagt, F. W., Ma, F., Cheng, Y., Shen, J., Cao, J., Matesan, J., Li, P., Bian, J., Hendrie, H. C., Murrell, J. R.: Selenium level is associated with apoE epsilon4 in rural elderly Chinese. Public Health Nutr 12(12): 2371-6, 2009.
Spina, S., Farlow, M. R., Unverzagt, F. W., Kareken, D. A., Murrell, J. R., Fraser, G., Epperson, F., Crowther, R. A., Spillantini, M. G., Goedert, M., Ghetti, B.: The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family. Brain 131(Pt 1): 72-89, 2008.
Kovacs, G. G., Majtenyi, K., Spina, S., Murrell, J. R., Gelpi, E., Hoftberger, R., Fraser, G., Crowther, R. A., Goedert, M., Budka, H., Ghetti, B.: White matter tauopathy with globular glial inclusions: a distinct sporadic frontotemporal lobar degeneration. J Neuropathol Exp Neurol 67(10): 963-75, 2008.
Ghetti, B., Spina, S., Murrell, J. R., Huey, E. D., Pietrini, P., Sweeney, B., Wassermann, E. M., Keohane, C., Farlow, M. R., Grafman, J.: In vivo and postmortem clinico anatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17. Neurodegener Dis 5(3-4): 215-7, 2008.
Gao, S., Jin, Y., Unverzagt, F. W., Ma, F., Hall, K. S., Murrell, J. R., Cheng, Y., Shen, J., Ying, B., Ji, R., Matesan, J., Liang, C., Hendrie, H. C.: Trace element levels and cognitive function in rural elderly Chinese. J Gerontol A Biol Sci Med Sci 63(6): 635-41, 2008.
Deeg, M., Baiyewu, O., Gao, S., Ogunniyi, A., Shen, J., Gureje, O., Taylor, S., Murrell, J., Unverzagt, F., Smith-Gamble, V., Evans, R., Dickens, J., Hendrie, H., Hall, K.: A comparison of cardiovascular disease risk factor biomarkers in African Americans and Yoruba Nigerians. Ethn Dis 18(4): 427-33, 2008.
Szwast, S. J., Hendrie, H. C., Lane, K. A., Gao, S., Taylor, S. E., Unverzagt, F., Murrell, J., Deeg, M., Ogunniyi, A., Farlow, M. R., Hall, K. S.: Association of statin use with cognitive decline in elderly African Americans. Neurology 69(19): 1873-80, 2007.
Spina, S., Murrell, J. R., Yoshida, H., Ghetti, B., Bermingham, N., Sweeney, B., Dlouhy, S. R., Crowther, R. A., Goedert, M., Keohane, C.: The novel Tau mutation G335S: clinical, neuropathological and molecular characterization. Acta Neuropathol 113(4): 461-70, 2007.
Spina, S., Murrell, J. R., Huey, E. D., Wassermann, E. M., Pietrini, P., Grafman, J., Ghetti, B.: Corticobasal syndrome associated with the A9D Progranulin mutation. J Neuropathol Exp Neurol 66(10): 892-900, 2007.
Spina, S., Murrell, J. R., Huey, E. D., Wassermann, E. M., Pietrini, P., Baraibar, M. A., Barbeito, A. G., Troncoso, J. C., Vidal, R., Ghetti, B., Grafman, J.: Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. Neurology 68(11): 820-7, 2007.
Ringman, J. M., Rodriguez, Y., Diaz-Olavarrieta, C., Chavez, M., Thompson, M., Fairbanks, L., Paz, F., Varpetian, A., Chaparro, H., Macias-Islas, M. A., Murrell, J., Ghetti, B., Kawas, C.: Performance on MMSE sub-items and education level in presenilin-1 mutation carriers without dementia. Int Psychogeriatr 19(2): 323-32, 2007.
Gao, S., Jin, Y., Hall, K. S., Liang, C., Unverzagt, F. W., Ji, R., Murrell, J. R., Cao, J., Shen, J., Ma, F., Matesan, J., Ying, B., Cheng, Y., Bian, J., Li, P., Hendrie, H. C.: Selenium level and cognitive function in rural elderly Chinese. Am J Epidemiol 165(8): 955-65, 2007.
Filley, C. M., Rollins, Y. D., Anderson, C. A., Arciniegas, D. B., Howard, K. L., Murrell, J. R., Boyer, P. J., Kleinschmidt-DeMasters, B. K., Ghetti, B.: The genetics of very early onset Alzheimer disease. Cogn Behav Neurol 20(3): 149-56, 2007.
Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M., Klug, A., Ghetti, B.: Mutations in the tau gene (MAPT) in FTDP-17: the family with Multiple System Tauopathy with Presenile Dementia (MSTD). J Alzheimers Dis 9(3 Suppl): 373-80, 2006.
Shiarli, A. M., Jennings, R., Shi, J., Bailey, K., Davidson, Y., Murrell J, et al. Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease. Neuropathol Appl Neurobiol 32(4): 374-87, 2006.
Schweitzer, K., Decker, E., Zhu, L., Miller, R. E., Mirra, S. S., Spina, S., Ghetti, B., Wang, M., Murrell, J.: Aberrantly regulated proteins in frontotemporal dementia. Biochem Biophys Res Commun 348(2): 465-72, 2006.
Murrell, J., Ghetti, B., Cochran, E., Macias-Islas, M. A., Medina, L., Varpetian, A., Cummings, J. L., Mendez, M. F., Kawas, C., Chui, H., Ringman, J. M.: The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. Neurogenetics 7(4): 277-9, 2006.
Murrell, J. R., Price, B., Lane, K. A., Baiyewu, O., Gureje, O., Ogunniyi, A., Unverzagt, F. W., Smith-Gamble, V., Gao, S., Hendrie, H. C., Hall, K. S.: Association of apolipoprotein E genotype and Alzheimer disease in African Americans. Arch Neurol 63(3): 431-4, 2006.
Murrell, J. R., Price, B. M., Baiyewu, O., Gureje, O., Deeg, M., Hendrie, H., Ogunniyi, A., Hall, K.: The fourth apolipoprotein E haplotype found in the Yoruba of Ibadan. Am J Med Genet B Neuropsychiatr Genet 141B(4): 426-7, 2006.
Hendrie, H. C., Murrell, J., Gao, S., Unverzagt, F. W., Ogunniyi, A., Hall, K. S.: International studies in dementia with particular emphasis on populations of African origin. Alzheimer Dis Assoc Disord 20(3 Suppl 2): S42-6, 2006.
Hall, K., Murrell, J., Ogunniyi, A., Deeg, M., Baiyewu, O., Gao, S., Gureje, O., Dickens, J., Evans, R., Smith-Gamble, V., Unverzagt, F. W., Shen, J., Hendrie, H.: Cholesterol, APOE genotype, and Alzheimer disease: an epidemiologic study of Nigerian Yoruba. Neurology 66(2): 223-7, 2006.
Gureje, O., Ogunniyi, A., Baiyewu, O., Price, B., Unverzagt, F. W., Evans, R. M., Smith-Gamble, V., Lane, K. A., Gao, S., Hall, K. S., Hendrie, H. C., Murrell, J. R.: APOE epsilon4 is not associated with Alzheimer's disease in elderly Nigerians. Ann Neurol 59(1): 182-5, 2006.
Ringman, J. M., Diaz-Olavarrieta, C., Rodriguez, Y., Chavez, M., Fairbanks, L., Paz, F., Varpetian, A., Maldonado, H. C., Macias-Islas, M. A., Murrell, J., Ghetti, B., Kawas, C.: Neuropsychological function in nondemented carriers of presenilin-1 mutations. Neurology 65(4): 552-8, 2005.
Murrell, J. R., Randall, J. D., Rosoff, J., Zhao, J. L., Jensen, R. V., Gullans, S. R., Haupert, G. T., Jr.: Endogenous ouabain: upregulation of steroidogenic genes in hypertensive hypothalamus but not adrenal. Circulation 112(9): 1301-8, 2005.
Gemignani, A., Pietrini, P., Murrell, J. R., Glazier, B. S., Zolo, P., Guazzelli, M., Ghetti, B.: Slow wave and rem sleep mechanisms are differently altered in hereditary pick disease associated with the TAU G389R mutation. Arch Ital Biol 143(1): 65-79, 2005.
Boeve, B. F., Tremont-Lukats, I. W., Waclawik, A. J., Murrell, J. R., Hermann, B., Jack, C. R., Jr., Shiung, M. M., Smith, G. E., Nair, A. R., Lindor, N., Koppikar, V., Ghetti, B.: Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. Brain 128(Pt 4): 752-72, 2005.
Baba, Y., Tsuboi, Y., Baker, M. C., Uitti, R. J., Hutton, M. L., Murrell J, et al. The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord 11(4): 205-8, 2005.
Takao, M., Ghetti, B., Yoshida, H., Piccardo, P., Narain, Y., Murrell, J. R., Vidal, R., Glazier, B. S., Jakes, R., Tsutsui, M., Spillantini, M. G., Crowther, R. A., Goedert, M., Koto, A.: Early-onset dementia with Lewy bodies. Brain Pathol 14(2): 137-47, 2004.
Roher, A. E., Kokjohn, T. A., Esh, C., Weiss, N., Childress, J., Kalback, W., Luehrs, D. C., Lopez, J., Brune, D., Kuo, Y. M., Farlow, M., Murrell, J., Vidal, R., Ghetti, B.: The human amyloid-beta precursor protein770 mutation V717F generates peptides longer than amyloid-beta-(40-42) and flocculent amyloid aggregates. J Biol Chem 279(7): 5829-36, 2004.
Ringman J M, Diaz-Olavarrieta C, Rodriguez Y, Chavez M, Paz F, Murrell J, Macias M Angel, Hill M, Kawas C: Female preclinical presenilin-1 mutation carriers unaware of their genetic status have higher levels of depression than their non-mutation carrying kin. Journal of neurology, neurosurgery, and psychiatry 75(3): 500-2, Mar 2004.
Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Murrell, J., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Parkinson Study, Group: Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum Mol Genet 12(20): 2599-608, 2003.
Lane, K. A., Gao, S., Hui, S. L., Murrell, J. R., Hall, K. S., Hendrie, H. C.: Apolipoprotein E and mortality in African-Americans and Yoruba. J Alzheimers Dis 5(5): 383-90, 2003.
Desai, P. P., Hendrie, H. C., Evans, R. M., Murrell, J. R., DeKosky, S. T., Kamboh, M. I.: Genetic variation in apolipoprotein D affects the risk of Alzheimer disease in African-Americans. Am J Med Genet B Neuropsychiatr Genet 116B(1): 98-101, 2003.
Tsuboi, Y., Uitti, R. J., Delisle, M. B., Ferreira, J. J., Brefel-Courbon, C., Rascol, O., Ghetti, B., Murrell, J. R., Hutton, M., Baker, M., Wszolek, Z. K.: Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallido-ponto-nigral degeneration kindred and a French family. Arch Neurol 59(6): 943-50, 2002.
Tsuboi, Y., Baker, M., Hutton, M. L., Uitti, R. J., Rascol, O., Delisle, M. B., Soulages, X., Murrell, J. R., Ghetti, B., Yasuda, M., Komure, O., Kuno, S., Arima, K., Sunohara, N., Kobayashi, T., Mizuno, Y., Wszolek, Z. K.: Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology 59(11): 1791-3, 2002.
Takao, M., Ghetti, B., Hayakawa, I., Ikeda, E., Fukuuchi, Y., Miravalle, L., Piccardo, P., Murrell, J. R., Glazier, B. S., Koto, A.: A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta Neuropathol 104(2): 155-70, 2002.
Adamec, E., Murrell, J. R., Takao, M., Hobbs, W., Nixon, R. A., Ghetti, B., Vonsattel, J. P.: P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein. J Neurol Sci 200(1-2): 85-93, 2002.
Yazaki, M., Liepnieks, J. J., Murrell, J. R., Takao, M., Guenther, B., Piccardo, P., Farlow, M. R., Ghetti, B., Benson, M. D.: Biochemical characterization of a neuroserpin variant associated with hereditary dementia. Am J Pathol 158(1): 227-33, 2001.
Ringman JM, Jain V, Murrell JR, Ghetti B, Cochran EJ. : Human Gene Mutations: Gene Symbol: PSEN1, Disease: Alzheimer disease. Human Genetics 2001;109:242. 109: 242, 2001.
Takao, M., Benson, M. D., Murrell, J. R., Yazaki, M., Piccardo, P., Unverzagt, F. W., Davis, R. L., Holohan, P. D., Lawrence, D. A., Richardson, R., Farlow, M. R., Ghetti, B.: Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy. J Neuropathol Exp Neurol 59(12): 1070-86, 2000.
Quaid, K. A., Murrell, J. R., Hake, A. M., Farlow, M. R., Ghetti, B.: Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics. J Genet Couns 9(4): 327-41, 2000.
Murrell, J. R., Hake, A. M., Quaid, K. A., Farlow, M. R., Ghetti, B.: Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. Arch Neurol 57(6): 885-7, 2000.
Koch, M., Murrell, J. R., Hunter, D. D., Olson, P. F., Jin, W., Keene, D. R., Brunken, W. J., Burgeson, R. E.: A novel member of the netrin family, beta-netrin, shares homology with the beta chain of laminin: identification, expression, and functional characterization. J Cell Biol 151(2): 221-34, 2000.
Ghetti, B., Murrell, J. R., Zolo, P., Spillantini, M. G., Goedert, M.: Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a Pick disease-like syndrome. Ann N Y Acad Sci 920: 52-62, 2000.
Delisle, M. B., Uro-Coste, E., Murrell, J. R., Rascol, O., Ghetti, B.: [Neurodegenerative disease associated with a mutation of codon 279 (N279K) in exon 10 of Tau protein] Bull Acad Natl Med 184(4): 799-809; discussion 809-11, 2000.
Varani, L., Hasegawa, M., Spillantini, M. G., Smith, M. J., Murrell, J. R., Ghetti, B., Klug, A., Goedert, M., Varani, G.: Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc Natl Acad Sci U S A 96(14): 8229-34, 1999.
Murrell, J. R., Spillantini, M. G., Zolo, P., Guazzelli, M., Smith, M. J., Hasegawa, M., Redi, F., Crowther, R. A., Pietrini, P., Ghetti, B., Goedert, M.: Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. J Neuropathol Exp Neurol 58(12): 1207-26, 1999.
Murrell, J. R., Hunter, D. D.: An olfactory sensory neuron line, odora, properly targets olfactory proteins and responds to odorants. J Neurosci 19(19): 8260-70, 1999.
Mirra, S. S., Murrell, J. R., Gearing, M., Spillantini, M. G., Goedert, M., Crowther, R. A., Levey, A. I., Jones, R., Green, J., Shoffner, J. M., Wainer, B. H., Schmidt, M. L., Trojanowski, J. Q., Ghetti, B.: Tau pathology in a family with dementia and a P301L mutation in tau. J Neuropathol Exp Neurol 58(4): 335-45, 1999.
Ghetti, B., Murrell, J., Spillantini, M. G.: Mutations in the Tau gene cause frontotemporal dementia. Brain Res Bull 50(5-6): 471-2, 1999.
Delisle, M. B., Murrell, J. R., Richardson, R., Trofatter, J. A., Rascol, O., Soulages, X., Mohr, M., Calvas, P., Ghetti, B.: A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropathol 98(1): 62-77, 1999.
Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M. R., Klug, A., Ghetti, B.: Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci U S A 95(13): 7737-41, 1998.
Schormann, N., Murrell, J. R., Benson, M. D.: Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation. Amyloid 5(3): 175-87, 1998.
Spillantini, M. G., Goedert, M., Crowther, R. A., Murrell, J. R., Farlow, M. R., Ghetti, B.: Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. Proc Natl Acad Sci U S A 94(8): 4113-8, 1997.
Pelletier, M. K., Murrell, J. R., Shirley, B. W.: Characterization of flavonol synthase and leucoanthocyanidin dioxygenase genes in Arabidopsis. Further evidence for differential regulation of "early" and "late" genes. Plant Physiol 113(4): 1437-45, 1997.
Murrell, J. R., Koller, D., Foroud, T., Goedert, M., Spillantini, M. G., Edenberg, H. J., Farlow, M. R., Ghetti, B.: Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17. Am J Hum Genet 61(5): 1131-8, 1997.
Hanes, D., Zech, L. A., Murrell, J., Benson, M. D.: Metabolism of normal and Met30 transthyretin. Adv Food Nutr Res 40: 149-55, 1996.
Benson, M. D., Kluve-Beckerman, B., Liepnieks, J. J., Murrell, J. R., Hanes, D., Uemichi, T.: Metabolism of amyloid proteins. Ciba Found Symp 199: 104-13; discussion 113-8, 1996.
Au, K. S., Murrell, J., Buckler, A., Blanton, S. H., Northrup, H.: Report of a critical recombination further narrowing the TSC1 region. J Med Genet 33(7): 559-61, 1996.
Trofatter, J. A., Long, K. R., Murrell, J. R., Stotler, C. J., Gusella, J. F., Buckler, A. J.: An expression-independent catalog of genes from human chromosome 22. Genome Res 5(3): 214-24, 1995.
Schormann, N., Murrell, J. R., Liepnieks, J. J., Benson, M. D.: Tertiary structure of an amyloid immunoglobulin light chain protein: a proposed model for amyloid fibril formation. Proc Natl Acad Sci U S A 92(21): 9490-4, 1995.
Rosen, H. N., Murrell, J. R., Liepnieks, J. J., Benson, M. D., Cody, V., Moses, A. C.: Threonine for alanine substitution at position 109 of transthyretin differentially alters human transthyretin's affinity for iodothyronines. Endocrinology 134(1): 27-34, 1994.
McAllister, K. A., Grogg, K. M., Johnson, D. W., Gallione, C. J., Baldwin, M. A., Jackson, C. E., Helmbold, E. A., Markel, D. S., McKinnon, W. C., Murrell, J., et al.,: Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary hemorrhagic telangiectasia type 1. Nat Genet 8(4): 345-51, 1994.
Farlow, M., Murrell, J., Ghetti, B., Unverzagt, F., Zeldenrust, S., Benson, M.: Clinical characteristics in a kindred with early-onset Alzheimer's disease and their linkage to a G-->T change at position 2149 of the amyloid precursor protein gene. Neurology 44(1): 105-11, 1994.
Church, D. M., Stotler, C. J., Rutter, J. L., Murrell, J. R., Trofatter, J. A., Buckler, A. J.: Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nat Genet 6(1): 98-105, 1994.
Berni, R., Malpeli, G., Folli, C., Murrell, J. R., Liepnieks, J. J., Benson, M. D.: The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein. J Biol Chem 269(38): 23395-8, 1994.
Trofatter, J. A., MacCollin, M. M., Rutter, J. L., Murrell, J. R., Duyao, M. P., Parry, D. M., Eldridge, R., Kley, N., Menon, A. G., Pulaski, K., et al.,: A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 75(4): 826, 1993.
Steinrauf, L. K., Hamilton, J. A., Braden, B. C., Murrell, J. R., Benson, M. D.: X-ray crystal structure of the Ala-109-->Thr variant of human transthyretin which produces euthyroid hyperthyroxinemia. J Biol Chem 268(4): 2425-30, 1993.
Rosen, H. N., Moses, A. C., Murrell, J. R., Liepnieks, J. J., Benson, M. D.: Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants. J Clin Endocrinol Metab 77(2): 370-4, 1993.
Uemichi, T., Murrell, J. R., Zeldenrust, S., Benson, M. D.: A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. J Med Genet 29(12): 888-91, 1992.
Murrell, J. R., Schoner, R. G., Liepnieks, J. J., Rosen, H. N., Moses, A. C., Benson, M. D.: Production and functional analysis of normal and variant recombinant human transthyretin proteins. J Biol Chem 267(23): 16595-600, 1992.
Ghetti, B., Murrell, J., Benson, M. D., Farlow, M. R.: Spectrum of amyloid beta-protein immunoreactivity in hereditary Alzheimer disease with a guanine to thymine missense change at position 1924 of the APP gene. Brain Res 571(1): 133-9, 1992.
Steinrauf, L. K., Cao, Y. J., Hamilton, J., Murrell, J., Liepnieks, J. J., Benson, M. D.: Preparation and crystallization of human transthyretin (prealbumin) variants. Biochem Biophys Res Commun 179(2): 804-9, 1991.
Murrell, J., Farlow, M., Ghetti, B., Benson, M. D.: A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 254(5028): 97-9, 1991.
Ghetti B, Takao M, Yazaki M, Farlow MR, Unverzagt FW, Piccardo P, Murrell JR, Benson MD.: Neuropathology at the crossroad of neuropsychiatry and genetics: New insights into neuroserpin encephalopathy. International Seminar on Nuclear War and Planetary Emergencies. 27th session Ragaini R, (Ed). (eds.). Page: 550-67, 2003.
Farlow MR, Murrell J, Unverzagt FW, Phillips M, Takao M, Hulette C, Ghetti B. : Familial Alzheimer's Disease with spastic paraparesis associated with a mutation at codon 261 of the presenilin 1 gene. IN: Alzheimer's Disease: Advance in Etiology, Pathogenesis and Therapeutics, Iqbal K, Sisodia SS, Winblad B, (Eds.) (eds.). John Wiley & Sons Ltd. Page: 53-60, 2001.
Ghetti B, Murrell JR, Zolo P, Spillantini MG, Goedert M. : A mutation in tau gene (G389R) causes a Pick disease-like syndrome. IN: Molecular Genetics of Dementia. Growden JH, Wurtman RJ, Corkin S, Nitsch RM, (Eds.) (eds.). Zurich, Page: 65-77, 2000.
Goedert M, Crowther RA, Jakes R, Hasegawa M, Smith MJ, Murrell J, Ghetti B, Spillantini MG. : Filamentous tau protein and alpha-synuclein deposits in neurodegenerative diseases. IN: Alzheimer's Disease and Related Disorders. Iqbal K, Swaab DF, Winblad B, Wisniewski HM (Eds.) (eds.). John Wiley & Sons Ltd. Page: 245-258, 1999.
Spillantini MB, Goedert M, Crowther RA, Murrell JR, Farlow MJ, Ghetti B.: Characterization of tau pathology in familial multiple system tauopathy with presenile dementia. I. Alzheimer's disease: Biology, diagnosis and therapeutics. Iqbal K, Winblad B, Nishimura T, Takeda M, Wisniewski HM (Eds.) (eds.). John Wiley & Sons Ltd., Chichester, England, Page: 213-223, 1997.
Murrell JR, Schoner RG, Benson MD. : In vitro production of recombinant human transthyretin (TTR) Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders. Costa PP, DeFreita AF, Saraiva MJM (Eds.) (eds.). 1990 Notes: Arquivos De Medicina, Portugal.
Murrell JR, Schoner R, Moses A, Rosen H, Benson MD. 1990.: Structure and function of recombinant human transthyretin. In: Amyloid and Amyloidosis. Natvig J.B., et al. (Eds.) (eds.). Kluwer Academic Publishers, Dordrecht. 1990.
Fanning EA, Dulik MC, Rafferty KA, Weckselblatt B, Luo M, Murrell J, Strong A, Zackai E, Spinner NB, Conlin L. : Chromosomal Microarray Analysis: Should Reanalysis Become the New Normal? ACMG Annual Meeting, Seattle, Washington (717). Poster. 2019.
Murrell J. Created online learning course: "Fundamental Molecular Biology" https://area9lyceum.com/laboratorymedicine/course/foundational-molecular... in collaboration with New England Journal of Medicine and AACC Learning Lab. Mar 2022.
Murrell J. "Non-Invasive Prenatal Testing (NIPT): A Powerful (but Misunderstood) Screening Tool", Association For Molecular Pathology, virtual. Feb 2022.
Murrell J. "Lunch and Learn, Questions and Answers about COVID", Association For Molecular Pathology, virtual. Aug 2021.
Murrell J. "Molecular Diagnostic Testing for Cancer During the COVID-19 Pandemic", Association for Molecular Pathology,Virtual. Mar 2021.
2017-present, Reviewer, Journal of Molecular Diagnostics
2016-present, Reviewer, Genetics in Medicine
2014-present, Editorial Board, JSM Alzheimer's Disease and Related Dementia
2012-present, Senior Editor, American Journal of Neurodegeneration
2012-present, Reviewer, American Association of Human Genetics DNA Day Essay Contest
2021-present, Genomic Diagnostic Laboratory Test Utilization Committee, Chairman
2020-present, Laboratory Medicine and Supply Chain Integration Committee
2019-present, Laboratory Genetics and Genomics Fellowship Program Evaluation Committee
2019-present, Clinical Competency Committee for the laboratory Genetics and Genomics Fellowship Program, Chairman
2014-present, Association for Molecular Pathologists
- 2019-present, Professional Relations Committee, Chairman
- 2017-present, Professional Relations Committee
2017-present, American College of Medical Genetics
2008-present, Association for Frontotemporal Dementias (AFTD)
- 2008-present, Medical Advisory Council
1987-present, American Society of Human Genetics