Quantifying prion disease penetrance using large population control cohorts

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works

Integrative genomics viewer

Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., & Mesirov, J. P. (2011) · Nature Biotechnology · doi:10.1038/nbt.1754 · Cited by 15,390 · see citing works

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works

Prions

Prusiner, S. B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.23.13363 · Cited by 5,373 · see citing works

ClinVar: public archive of relationships among sequence variation and human phenotype

Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516 · see citing works

Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering

Browning, S. R., & Browning, B. L. (2007) · The American Journal of Human Genetics · doi:10.1086/521987 · Cited by 3,138 · see citing works

ON ESTIMATING THE RELATION BETWEEN BLOOD GROUP AND DISEASE

Woolf, B. (1955) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1955.tb01348.x · Cited by 2,739 · see citing works

Mice devoid of PrP are resistant to scrapie

Büeler, H., Aguzzi, A., Sailer, A. W., Greiner, R., Autenried, P., Aguet, M., & Weissmann, C. (1993) · Cell · doi:10.1016/0092-8674(93)90360-3 · Cited by 2,098 · see citing works

Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein

Büeler, H., Fischer, M., Lang, Y., Bluethmann, H., Lipp, H., DeArmond, S. J., Prusiner, S. B., Aguet, M., & Weissmann, C. (1992) · Nature · doi:10.1038/356577a0 · Cited by 1,654 · see citing works

The Rotterdam Study: objectives and design update

Albert Hofman, D., Breteler, M. M. B., van Duijn, C. M., Krestin, G. P., Pols, H. A. P., Stricker, B. H. C., Tiemeier, H. W., Uitterlinden, A. G., Vingerling, J. R., & Witteman, J. C. M. (2007) · European Journal of Epidemiology · doi:10.1007/s10654-007-9199-x · Cited by 1,404 · see citing works

A polygenic burden of rare disruptive mutations in schizophrenia

Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385 · see citing works

A copy number variation morbidity map of developmental delay

Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351 · see citing works

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Stenson, P. D., Mort, M. E., Ball, E. V., Shaw, K., Phillips, A. D., & Cooper, D. N. (2013) · Human Genetics · doi:10.1007/s00439-013-1358-4 · Cited by 1,350 · see citing works

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature · doi:10.1038/nature13127 · Cited by 1,224 · see citing works

A framework for the interpretation of de novo mutation in human disease

Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3050 · Cited by 979 · see citing works

Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

Zerr, I., Kallenberg, K., Summers, D. M., Romero, C., Taratuto, A. L., Heinemann, U., Breithaupt, M., Varges, D., Meißner, B., Ladogana, A., et al. (2009) · Brain · doi:10.1093/brain/awp191 · Cited by 917 · see citing works

Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

Palmer, M. S., Dryden, A. J., Hughes, J. T., & Collinge, J. (1991) · Nature · doi:10.1038/352340a0 · Cited by 890 · see citing works

Prion protein (PrP) with amino‐proximal deletions restoring susceptibility of PrP knockout mice to scrapie.

Fischer, M. B., Rülicke, T., Raeber, A. J., Sailer, A. W., Moser, M., Oesch, B., Brandner, S., Aguzzi, A., & Weissmann, C. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00467.x · Cited by 878 · see citing works

Linkage of a prion protein missense variant to Gerstmann–Sträussler syndrome

Hsiao, K., Baker, H. F., Crow, T. J., Poulter, M., Owen, F., Terwilliger, J. D., Westaway, D. A., Ott, J., & Prusiner, S. B. (1989) · Nature · doi:10.1038/338342a0 · Cited by 848 · see citing works

Depleting Neuronal PrP in Prion Infection Prevents Disease and Reverses Spongiosis

Mallucci, G. R., Dickinson, A., Linehan, J. M., Klöhn, P., Brandner, S., & Collinge, J. (2003) · Science · doi:10.1126/science.1090187 · Cited by 772 · see citing works

Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism

Goldfarb, L. G., Petersen, R. B., Tabaton, M., Brown, P., LeBlanc, A. C., Montagna, P., Cortelli, P., Julien, J., Vital, C., Pendelbury, W. W., et al. (1992) · Science · doi:10.1126/science.1439789 · Cited by 713 · see citing works

The genetic ancestry of African Americans, Latinos, and European Americans across the United States

Bryc, K., Durand, E. Y., Macpherson, J. M., Reich, D., & Mountain, J. L. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.11.010 · Cited by 712 · see citing works

A Method of Estimating Comparative Rates from Clinical Data. Applications to Cancer of the Lung, Breast, and Cervix

Cornfield, J. (1951) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/11.6.1269 · Cited by 696 · see citing works

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.009 · Cited by 643 · see citing works

Prion biology and diseases.

Prusiner, S. B. (1991) · PubMed · Cited by 641 · see citing works

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Cooper, D. N., Krawczak, M., Polychronakos, C., Tyler‐Smith, C., & Kehrer‐Sawatzki, H. (2013) · Human Genetics · doi:10.1007/s00439-013-1331-2 · Cited by 639 · see citing works

Creutzfeldt‐Jakob disease: Patterns of worldwide occurrence and the significance of familial and sporadic clustering

Masters, C. L., Harris, J. O., Gajdusek, D. C., Gibbs, C. J., Bernoulli, C., & Asher, D. M. (1979) · Annals of Neurology · doi:10.1002/ana.410050212 · Cited by 625 · see citing works

Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene

Medori, R., Tritschler, H., LeBlanc, A., Villare, F., Manetto, V., Chen, H. Y., Xue, R., Leal, S. M., Montagna, P., Cortelli, P., et al. (1992) · New England Journal of Medicine · doi:10.1056/nejm199202133260704 · Cited by 605 · see citing works

Spontaneous Neurodegeneration in Transgenic Mice with Mutant Prion Protein

Hsiao, K., Scott, M., FOSTER, D. B., Groth, D., DeArmond, S. J., & Prusiner, S. B. (1990) · Science · doi:10.1126/science.1980379 · Cited by 529 · see citing works

Genetic prion disease: the EUROCJD experience

Kovács, G. G., Puopolo, M., Ladogana, A., Pocchiari, M., Budka, H., van Duijn, C. M., Collins, S. J., Boyd, A., Giulivi, A., Coulthart, M., et al. (2005) · Human Genetics · doi:10.1007/s00439-005-0020-1 · Cited by 449 · see citing works

The Prion's Elusive Reason for Being

Aguzzi, A., Baumann, F., & Bremer, J. (2008) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.31.060407.125620 · Cited by 420 · see citing works

Axonal prion protein is required for peripheral myelin maintenance

Bremer, J., Baumann, F., Tiberi, C., Wessig, C., Fischer, H., Schwarz, P., Steele, A. D., Toyka, K. V., Nave, K., Weis, J., et al. (2010) · Nature Neuroscience · doi:10.1038/nn.2483 · Cited by 395 · see citing works

The Rotterdam Study: 2016 objectives and design update

Albert Hofman, D., Brusselle, G., Murad, S. D., van Duijn, C. M., Franco, O. H., Goedegebure, A., Ikram, M. A., Klaver, C. C. W., Nijsten, T. E. C., Peeters, R. P., et al. (2015) · European Journal of Epidemiology · doi:10.1007/s10654-015-0082-x · Cited by 382 · see citing works

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

Kirov, G., Rees, E., Walters, J. T. R., Escott-Price, V., Georgieva, L., Richards, A. L., Chambert, K. D., Davies, G., Legge, S. E., Moran, J. L., et al. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.07.022 · Cited by 368 · see citing works

Production of cattle lacking prion protein

Richt, J. A., Kasinathan, P., Hamir, A. N., Castilla, J., Sathiyaseelan, T., Vargas, F., Sathiyaseelan, J., Wu, H., Matsushita, H., Koster, J. A., et al. (2006) · Nature Biotechnology · doi:10.1038/nbt1271 · Cited by 343 · see citing works

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

Amberger, J. S., Bocchini, C. A., & Hamosh, A. (2011) · Human Mutation · doi:10.1002/humu.21466 · Cited by 332 · see citing works

Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.

Goldfarb, L. G., Brown, P., McCombie, W. R., Goldgaber, D., Swergold, G. D., Wills, P. R., Červen̆áková, L., Baron, H., Gibbs, C. J., & Gajdusek, D. C. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.23.10926 · Cited by 331 · see citing works

Prion disease genetics

Mead, S. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201544 · Cited by 325 · see citing works

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

Révész, T., Holton, J. L., Lashley, T., Plant, G. T., Frangione, B., Rostagno, A. A., & Ghiso, J. A. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0501-8 · Cited by 293 · see citing works

Mutation of the Prion Protein in Libyan Jews with Creutzfeldt–Jakob Disease

Hsiao, K., Meiner, Z., Kahana, E., Cass, C., Kahana, I., Avrahami, D., Scarlato, G., Abramsky, O., Prusiner, S. B., & Gabizon, R. (1991) · New England Journal of Medicine · doi:10.1056/nejm199104183241604 · Cited by 277 · see citing works

Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome

Goldgaber, D., Goldfarb, L. G., Brown, P., Asher, D. M., Brown, W. T., Lin, S., Teener, J. W., Feinstone, S. M., Rubenstein, R., & Kascsak, R. J. (1989) · Experimental Neurology · doi:10.1016/0014-4886(89)90095-2 · Cited by 256 · see citing works

Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles

Hsiao, K., Dlouhy, S. R., Farlow, M. R., Cass, C., Costa, M. D., Conneally, P. M., Hodes, M. E., Ghetti, B. F., & Prusiner, S. B. (1992) · Nature Genetics · doi:10.1038/ng0492-68 · Cited by 245 · see citing works

On the use of familial aggregation in population-based case probands for calculating penetrance.

Begg, C. (2002) · Journal of the National Cancer Institute · doi:10.1093/jnci/94.16.1221 · Cited by 226 · see citing works

Fatal familial insomnia

Medori, R., Montagna, P., Tritschler, H. J., LeBlanc, A. C., Cortelli, P., Tinuper, P., Lugaresi, E., & Gambetti, P. L. (1992) · Neurology · doi:10.1212/wnl.42.3.669 · Cited by 205 · see citing works

Phenotypic Variability of Gerstmann-Straussler-Scheinker Disease is Associated with Prion Protein Heterogeneity

Piccardo, P., Dlouhy, S. R., Lievens, P., Young, K., Bird, T. D., Nochlin, D., Dickson, D. W., Vinters, H. V., Zimmerman, T. R., Mackenzie, I. R., et al. (1998) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199810000-00010 · Cited by 203 · see citing works

Prospective 10-year surveillance of human prion diseases in Japan

Nozaki, I., Hamaguchi, T., Sanjo, N., Noguchi‐Shinohara, M., Sakai, K., Nakamura, Y., SATO, T. A., Kitamoto, T., Mizusawa, H., Moriwaka, F., et al. (2010) · Brain · doi:10.1093/brain/awq216 · Cited by 199 · see citing works

Single treatment with RNAi against prion protein rescues early neuronal dysfunction and prolongs survival in mice with prion disease

White, M. D., Farmer, M., Mirabile, I., Brandner, S., Collinge, J., & Mallucci, G. R. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802759105 · Cited by 199 · see citing works

High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes

Finckh, U., Müller‐Thomsen, T., Mann, U. M., Eggers, C., Marksteiner, J., Meins, W., Binetti, G. G., Alberici, A., Höck, C., Nitsch, R. M., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302702 · Cited by 192 · see citing works

An Amber Mutation of Prion Protein in Gerstmann-Sträussler Syndrome with Mutant PrP Plaques

Kitamoto, T., Iizuka, R., & Tateishi, J. (1993) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1993.1447 · Cited by 190 · see citing works

Molecular genetics of human prion diseases in Germany

Windl, O., Giese, A., Schulz‐Schaeffer, W., Zerr, I., Skworc, K., Arendt, S., Oberdieck, C., Bodemer, M., Poser, S., & Kretzschmar, H. A. (1999) · Human Genetics · doi:10.1007/s004399900124 · Cited by 182 · see citing works

Mutation in codon 200 of scrapie amyloid precursor gene linked to Creutzfeldt-Jakob disease in Sephardic Jews of Libyan and non-Libyan origin

Goldfarb, L. G., Korczyn, A. D., Brown, P., Chapman, J., & Gajdusek, D. C. (1990) · The Lancet · doi:10.1016/0140-6736(90)93443-s · Cited by 181 · see citing works

New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred

Goldfarb, L. G., Haltia, M., Brown, P., Nieto, A., Kovanen, J., McCombie, W. R., Trapp, S., & Gajdusek, D. C. (1991) · The Lancet · doi:10.1016/0140-6736(91)91198-4 · Cited by 169 · see citing works

Codon 219 lys allele of PRNP is not found in sporadic Creutzfeldt‐Jakob disease

Shibuya, S., Higuchi, J., Shin, R., Tateishi, J., & Kitamoto, T. (1998) · Annals of Neurology · doi:10.1002/ana.410430618 · Cited by 163 · see citing works

A Novel Prion Disease Associated with Diarrhea and Autonomic Neuropathy

Mead, S., Gandhi, S., Beck, J. A., Caine, D., Gajulapalli, D., Carswell, C. J., Hyare, H., Joiner, S., Ayling, H., Lashley, T., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1214747 · Cited by 156 · see citing works

A prion protein variant in a family with the telencephalic form of Gerstmann‐Straussler‐Scheinker syndrome

Hsiao, K., Cass, C., Schellenberg, G. D., Bird, T. D., Devine-Gage, E. A., Wisniewski, H., & Prusiner, S. B. (1991) · Neurology · doi:10.1212/wnl.41.5.681 · Cited by 153 · see citing works

Huntington Disease Phenocopy Is a Familial Prion Disease

Moore, R. C., Xiang, F., Monaghan, J., Han, D. G., Zhang, Z., Edström, L., Anvret, M., & Prusiner, S. B. (2001) · The American Journal of Human Genetics · doi:10.1086/324414 · Cited by 153 · see citing works

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease

Owen, F., Poulter, M., Shah, T., Collinge, J., Lofthouse, R., Baker, H. F., Ridley, R. M., McVey, J. H., & Crow, T. J. (1990) · Molecular Brain Research · doi:10.1016/0169-328x(90)90038-f · Cited by 148 · see citing works

Spontaneous Generation of Prion Infectivity in Fatal Familial Insomnia Knockin Mice

Jackson, W. S., Borkowski, A. W., Faas, H., Steele, A. D., King, O. D., Watson, N., Jasanoff, A., & Lindquist, S. L. (2009) · Neuron · doi:10.1016/j.neuron.2009.07.026 · Cited by 145 · see citing works

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

Webb, T., Poulter, M., Beck, J. A., Uphill, J. B., Adamson, G., Campbell, T., Linehan, J. M., Powell, C., Brandner, S., Pal, S., et al. (2008) · Brain · doi:10.1093/brain/awn202 · Cited by 138 · see citing works

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Flannick, J., Beer, N. L., Bick, A. G., Agarwala, V., Molnes, J., Gupta, N., Burtt, N. P., Florez, J. C., Meigs, J. B., Taylor, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2794 · Cited by 136 · see citing works

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP

Jansen, C., Parchi, P., Capellari, S., Vermeij, A. J., Corrado, P., Baas, F., Strammiello, R., van Gool, W. A., Swieten, J. C. V., & Rozemüller, A. J. M. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0609-x · Cited by 134 · see citing works

Evaluation of LRRK2 G2019S penetrance

Goldwurm, S., Zini, M., Mariani, L., Tesei, S., Miceli, R., Sironi, F. M., Clementi, M., Bonifati, V., & Pezzoli, G. (2007) · Neurology · doi:10.1212/01.wnl.0000254483.19854.ef · Cited by 132 · see citing works

Mutant Prion Protein Expression Causes Motor and Memory Deficits and Abnormal Sleep Patterns in a Transgenic Mouse Model

Dossena, S., Imeri, L., Mangieri, M., Garofoli, A., Ferrari, L. L., Senatore, A., Restelli, E., Balducci, C., Fiordaliso, F., Salio, M., et al. (2008) · Neuron · doi:10.1016/j.neuron.2008.09.008 · Cited by 131 · see citing works

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

Bick, A. G., Flannick, J. A., Ito, K., Cheng, S. C., Vasan, R. S., Parfenov, M. G., Herman, D. S., DePalma, S. R., Gupta, N., Gabriel, S., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.07.017 · Cited by 130 · see citing works

Fatal Transmissible Amyloid Encephalopathy: A New Type of Prion Disease Associated with Lack of Prion Protein Membrane Anchoring

Chesebro, B. W., Race, B., Meade-White, K. D., LaCasse, R. A., Race, R., Klingeborn, M., Striebel, J. F., Dorward, D. W., McGovern, G., & Jeffrey, M. (2010) · PLoS Pathogens · doi:10.1371/journal.ppat.1000800 · Cited by 128 · see citing works

Hardy, Weinberg and Language Impediments

Crow, J. F. (1999) · Genetics · doi:10.1093/genetics/152.3.821 · Cited by 127 · see citing works

The genetics of prion diseases

Mastrianni, J. A. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181cd7374 · Cited by 125 · see citing works

Genetic Creutzfeldt–Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis

Capellari, S., Strammiello, R., Saverioni, D., Kretzschmar, H. A., & Parchi, P. (2010) · Acta Neuropathologica · doi:10.1007/s00401-010-0760-4 · Cited by 120 · see citing works

Prion clearance in bigenic mice

Safar, J., DeArmond, S. J., Kociuba, K., Deering, C., Didorenko, S., Bouzamondo, E., Prusiner, S. B., & Tremblay, P. (2005) · Journal of General Virology · doi:10.1099/vir.0.80947-0 · Cited by 120 · see citing works

Human Prion Diseases in the United States

Holman, R. C., Belay, E. D., Christensen, K. L. Y., Maddox, R. A., Miniño, A., Folkema, A. M., Haberling, D. L., Hammett, T. A., Kochanek, K. D., Sejvar, J. J., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0008521 · Cited by 110 · see citing works

Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene

Krasemann, S., Zerr, I., Weber, T., Poser, S., Kretzschmar, H. A., Hunsmann, G., & Bodemer, W. (1995) · Molecular Brain Research · doi:10.1016/0169-328x(95)00175-r · Cited by 110 · see citing works

Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations

Hill, A. F., Joiner, S., Beck, J. A., Campbell, T., Dickinson, A., Poulter, M., Wadsworth, J. D. F., & Collinge, J. (2006) · Brain · doi:10.1093/brain/awl013 · Cited by 110 · see citing works

Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity

Mead, S. (2006) · Brain · doi:10.1093/brain/awl226 · Cited by 110 · see citing works

A new point mutation of the prion protein gene in Creutzfeldt‐Jakob disease

Pocchiari, M., Salvatore, M., Cutruzzolà, F., Genuardi, M., Travaglini‐Allocatelli, C., Masullo, C., Macchi, G., Alemà, G., Galgani, S., Xi, Y. G., et al. (1993) · Annals of Neurology · doi:10.1002/ana.410340608 · Cited by 108 · see citing works

Ancestry Composition: A Novel, Efficient Pipeline for Ancestry Deconvolution

Durand, E. Y., Do, C. B., Mountain, J. L., & Macpherson, J. M. (2014) · doi:10.1101/010512 · Cited by 108 · see citing works

Familial spongiform encephalopathy associated with a novel prion protein gene mutation

Nitrini, R., Rosemberg, S., Passos‐Bueno, M. R., da Silva, L. S. T., Iughetti, P., Papadopoulos, M., Carrilho, P. M., Caramelli, P., Albrecht, S., Zatz, M., et al. (1997) · Annals of Neurology · doi:10.1002/ana.410420203 · Cited by 106 · see citing works

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

Peoc’h, K., Manivet, P., Beaudry, P., Attane, F., Besson, G., Hannequin, D., Delasnerie-Lauprêtre, N., & Laplanche, J. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200005)15:5 · Cited by 100 · see citing works

Unique drug screening approach for prion diseases identifies tacrolimus and astemizole as antiprion agents

Karapetyan, Y. E., Sferrazza, G. F., Zhou, M., Ottenberg, G. K., Spicer, T., Chase, P. S., Fallahi, M., Hodder, P., Weissmann, C., & Lasmézas, C. I. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1303510110 · Cited by 100 · see citing works

Complete Penetrance of Creutzfeldt-Jakob Disease in Libyan Jews Carrying the E200K Mutation in the Prion Protein Gene

Spudich, S., Mastrianni, J. A., Wrensch, M., Gabizon, R., Meiner, Z., Kahana, I., Rosenmann, H., Kahana, E., & Prusiner, S. B. (1995) · Molecular Medicine · doi:10.1007/bf03401601 · Cited by 96 · see citing works

Seroepidemiological study of filovirus related to Ebola in the Philippines

Miranda, M. E., White, M., Mm, D., Cg, H., Ksiazek, T., & Burans, J. (1991) · The Lancet · doi:10.1016/0140-6736(91)91199-5 · Cited by 94 · see citing works

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

Beck, J. A., Poulter, M., Campbell, T., Adamson, G., Uphill, J. B., Guerreiro, R. J., Jackson, G. S., Stevens, J. C., Manji, H., Collinge, J., et al. (2010) · Human Mutation · doi:10.1002/humu.21281 · Cited by 94 · see citing works

The risk of developing Creutzfeldt‐Jakob disease in subjects with the PRNP gene codon 200 point mutation

Chapman, J., Ben-Israel, J., Goldhammer, Y., & Korczyn, A. D. (1994) · Neurology · doi:10.1212/wnl.44.9.1683 · Cited by 92 · see citing works

Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease

Lee, H. S., Sambuughin, N., Červen̆áková, L., Chapman, J., Pocchiari, M., Litvak, S., Qi, H. Y., Budka, H., del Ser, T., Furukawa, H., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302340 · Cited by 91 · see citing works

Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann‐Straussler‐Scheinker syndrome

Tateishi, J., Kitamoto, T., Doh‐ura, K., Sakaki, Y., Steinmetz, G., Tranchant, C., Warter, J., & Heldt, N. (1990) · Neurology · doi:10.1212/wnl.40.10.1578 · Cited by 90 · see citing works

Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene

Laplanche, J., Hachimi, K. H. E., Durieux, I., Thuillet, P., Defebvre, L., Delasnerie-Lauprêtre, N., Peoc’h, K., Foncin, J. F., & Destée, A. (1999) · Brain · doi:10.1093/brain/122.12.2375 · Cited by 89 · see citing works

Gerstmann‐Straussler‐Scheinker disease. I. Extending the clinical spectrum

Farlow, M. R., Yee, R. D., Dlouhy, S. R., Conneally, P. M., Azzarelli, B., & Ghetti, B. F. (1989) · Neurology · doi:10.1212/wnl.39.11.1446 · Cited by 86 · see citing works

Liposome-siRNA-Peptide Complexes Cross the Blood-Brain Barrier and Significantly Decrease PrPC on Neuronal Cells and PrPRES in Infected Cell Cultures

Pulford, B., Reim, N., Bell, A., Veatch, J., Forster, G., Bender, H., Meyerett, C., Hafeman, S., Michel, B., Johnson, T., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0011085 · Cited by 85 · see citing works

Loss of glycosylation associated with the T183A mutation in human prion disease

Grasbon-Frodl, E. M., Lorenz, H., Mann, U. M., Nitsch, R. M., Windl, O., & Kretzschmar, H. A. (2004) · Acta Neuropathologica · doi:10.1007/s00401-004-0913-4 · Cited by 85 · see citing works

Healthy goats naturally devoid of prion protein

Benestad, S. L., Austbø, L., Tranulis, M. A., Espenes, A., & Olsaker, I. (2012) · Veterinary Research · doi:10.1186/1297-9716-43-87 · Cited by 83 · see citing works

Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

Mead, S., Uphill, J. B., Beck, J., Poulter, M., Campbell, T., Lowe, J., Adamson, G., Hummerich, H., Klopp, N., Rückert, I., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr607 · Cited by 83 · see citing works

Hunting human disease genes: lessons from the past, challenges for the future

Brunham, L. R., & Hayden, M. R. (2013) · Human Genetics · doi:10.1007/s00439-013-1286-3 · Cited by 82 · see citing works

High incidence of genetic human transmissible spongiform encephalopathies in Italy

Ladogana, A., Puopolo, M., Poleggi, A., Almonti, S., Mellina, V., Equestre, M., & Pocchiari, M. (2005) · Neurology · doi:10.1212/01.wnl.0000160118.26865.11 · Cited by 81 · see citing works

Transgenic Fatal Familial Insomnia Mice Indicate Prion Infectivity-Independent Mechanisms of Pathogenesis and Phenotypic Expression of Disease

Bouybayoune, I., Mantovani, S., Del Gallo, F., Bertani, I., Restelli, E., Comerio, L., Tapella, L., Baracchi, F., Fernández-Borges, N., Mangieri, M., et al. (2015) · PLOS Pathogens · doi:10.1371/journal.ppat.1004796 · Cited by 81 · see citing works

Spontaneous generation of anchorless prions in transgenic mice

Stöhr, J., Watts, J. C., Legname, G., Oehler, A., Lemus, A., Nguyen, H.-O. B., Sussman, J., Wille, H., DeArmond, S. J., Prusiner, S. B., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1117827108 · Cited by 80 · see citing works

Familial prion disease with alzheimer disease‐like tau pathology and clinical phenotype

Jayadev, S., Nochlin, D., Poorkaj, P., Steinbart, E. J., Mastrianni, J. A., Montine, T. J., Ghetti, B. F., Schellenberg, G. D., Bird, T. D., & Leverenz, J. B. (2011) · Annals of Neurology · doi:10.1002/ana.22264 · Cited by 76 · see citing works

A New PRNP Mutation (G131V) Associated With Gerstmann-Sträussler-Scheinker Disease

Panegyres, P. K. (2001) · Archives of Neurology · doi:10.1001/archneur.58.11.1899 · Cited by 76 · see citing works

Intensity of human prion disease surveillance predicts observed disease incidence

Klug, G. M., Wand, H. C., Simpson, M. A., Boyd, A., Law, M. G., Masters, C. L., Matěj, R., Howley, R., Farrell, M., Breithaupt, M., et al. (2013) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-304820 · Cited by 75 · see citing works

A new point mutation in the prion protein gene at codon 210 in Creutzfeldt‐Jakob disease

Ripoll, L., Laplanche, J., Salzmann, M., Jouvet, A., Planques, B., Dussaucy, M., Chatelain, J., Beaudry, P., & Launay, J. (1993) · Neurology · doi:10.1212/wnl.43.10.1934 · Cited by 74 · see citing works

Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development.

Mitrova, E., & Belay, G. (2002) · PubMed · Cited by 72 · see citing works

Prion disease (PrP‐A117V) presenting with ataxia instead of dementia

Mastrianni, J. A., Curtis, M., Oberholtzer, J. C., Costa, M. M., DeArmond, S. J., Prusiner, S. B., & Garbern, J. Y. (1995) · Neurology · doi:10.1212/wnl.45.11.2042 · Cited by 70 · see citing works

A New Transgenic Mouse Model of Gerstmann–Sträussler–Scheinker Syndrome Caused by the A117V Mutation ofPRNP

Yang, W., Cook, J., Rassbach, B., Lemus, A., DeArmond, S. J., & Mastrianni, J. A. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.2542-09.2009 · Cited by 67 · see citing works

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism

Bishop, M., Pennington, C. M., Heath, C. A., Will, R. G., & Knight, R. (2009) · BMC Medical Genetics · doi:10.1186/1471-2350-10-146 · Cited by 65 · see citing works

A prion disease with a novel 96-base pair insertional mutation in the prion protein gene

Campbell, T., Palmer, M. S., Will, R. G., Gibb, W. R. G., Luthert, P. J., & Collinge, J. (1996) · Neurology · doi:10.1212/wnl.46.3.761 · Cited by 64 · see citing works

Creutzfeldt–Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene

Rossi, G., Giaccone, G., Giampaolo, L., Iussich, S., Puoti, G., Frigo, M., Cavaletti, G., Frattola, L., Bugiani, O., & Tagliavini, F. (2000) · Neurology · doi:10.1212/wnl.55.3.405 · Cited by 64 · see citing works

Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia

Beck, J. A., Mead, S., Campbell, T., Dickinson, A., Wientjens, D., Croes, E. A., van Duijn, C. M., & Collinge, J. (2001) · Neurology · doi:10.1212/wnl.57.2.354 · Cited by 63 · see citing works

Intracerebral Infusion of Antisense Oligonucleotides Into Prion-infected Mice

Nazor, K. E., Hung, G., Wancewicz, E. V., Giles, K., Black, C., Freier, S., Bennett, F., DeArmond, S. J., Freyman, Y., Lessard, P., et al. (2012) · Molecular Therapy — Nucleic Acids · doi:10.1038/mtna.2011.6 · Cited by 62 · see citing works

Two novel insertions in the prion protein gene in patients with lateonset dementia

Laplanche, J., Delasnerie-Lauprêtre, N., Brandel, J., Dussaucy, M., Chatelain, J., & Launay, J. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.6.1109 · Cited by 60 · see citing works

Generation of goats lacking prion protein

Yu, G., Chen, J., Xu, Y., Zhu, C., Yu, H., Liu, S., Sha, H., Chen, J., Xu, X., Wu, Y., et al. (2008) · Molecular Reproduction and Development · doi:10.1002/mrd.20960 · Cited by 57 · see citing works

The Features of Genetic Prion Diseases Based on Chinese Surveillance Program

Shi, Q., Zhou, W. M., Chen, C., Zhang, B., Xiao, K., Zhang, X., Shen, X., Li, Q., Deng, L., Dong, J.-H., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0139552 · Cited by 56 · see citing works

Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease

Mastrianni, J. A., Iannicola, C., Myers, R., DeArmond, S. J., & Prusiner, S. B. (1996) · Neurology · doi:10.1212/wnl.47.5.1305 · Cited by 53 · see citing works

Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases

Kim, M., Calì, I., Oehler, A., Fong, J. C., Wong, K., See, T. M., Katz, J., Gambetti, P. L., Bettcher, B. M., DeArmond, S. J., et al. (2013) · Acta Neuropathologica Communications · doi:10.1186/2051-5960-1-80 · Cited by 53 · see citing works

Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases

Jackson, W. S., Borkowski, A. W., Watson, N., King, O. D., Faas, H., Jasanoff, A., & Lindquist, S. L. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1312006110 · Cited by 53 · see citing works

A NovelPRNP Y218NMutation in Gerstmann-Sträussler-Scheinker Disease With Neurofibrillary Degeneration

Alzualde, A., Indakoetxea, B., Ferrer, I., Moreno, F., Barandiarán, M., Gorostidi, A., Estanga, A., Ruiz, I., Calero, M., van Leeuwen, F. W., et al. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181e85737 · Cited by 52 · see citing works

An inherited prion disease with a PrP P105L mutation

Yamada, M., Itoh, Y., Inaba, A., Wada, Y., Takashima, M., Satoh, S., Kamata, T., Okeda, R., Kayano, T., Suematsu, N., et al. (1999) · Neurology · doi:10.1212/wnl.53.1.181 · Cited by 52 · see citing works

Molecular genetics of human prion diseases

Collinge, J., & Palmer, M. S. (1994) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.1994.0031 · Cited by 52 · see citing works

Human Prion Diseases in The Netherlands (1998–2009): Clinical, Genetic and Molecular Aspects

Jansen, C., Parchi, P., Capellari, S., Ibrahim‐Verbaas, C. A., Schuur, M., Strammiello, R., Corrado, P., Bishop, M., van Gool, W. A., Verbeek, M. M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036333 · Cited by 51 · see citing works

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease

Rodriguez, M. M., Peoc’h, K., Haı̈k, S., Bouchet, C., Vernengo, L., Mañana, G., Salamano, R., Carrasco, L., Lenne, M., Beaudry, P., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000158618.39527.93 · Cited by 49 · see citing works

Novel prion protein gene mutation presenting with subacute PSP-like syndrome

Rowe, D. B., Lewis, V., Needham, M., Rodríguez, M. E., Boyd, A., McLean, C., Roberts, H., Masters, C. L., & Collins, S. J. (2007) · Neurology · doi:10.1212/01.wnl.0000256819.61531.98 · Cited by 48 · see citing works

Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease

HITOSHI, S., Nagura, H., Yamanouchi, H., & Kitamoto, T. (1993) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(93)90275-4 · Cited by 48 · see citing works

Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study

Hoque, M. Z., Kitamoto, T., Furukawa, H., Muramoto, T., & Tateishi, J. (1996) · Acta Neuropathologica · doi:10.1007/s004010050544 · Cited by 48 · see citing works

A new prion disease: relationship with central and peripheral amyloidoses

Mead, S., & Reilly, M. M. (2015) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.263 · Cited by 46 · see citing works

V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation

Chasseigneaux, S., Haı̈k, S., Laffont-Proust, I., Marco, O. D., Lenne, M., Brandel, J., Hauw, J., Laplanche, J., & Peoc’h, K. (2006) · Neuroscience Letters · doi:10.1016/j.neulet.2006.08.008 · Cited by 46 · see citing works

Novel Prion Protein Gene Mutation in an Octogenarian With Creutzfeldt-Jakob Disease

Collins, S. J., Boyd, A., Fletcher, A., Byron, K. A., Harper, C. C., McLean, C., & Masters, C. L. (2000) · Archives of Neurology · doi:10.1001/archneur.57.7.1058 · Cited by 45 · see citing works

Creutzfeldt-Jakob Disease (CJD) with a Mutation at Codon 148 of Prion Protein Gene

Pastore, M., Chin, S., Bell, K. L., Dong, Z., Yang, Q., Yang, L., Yuan, J., Chen, S. G., Gambetti, P. L., & Zou, W. (2005) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)61254-0 · Cited by 44 · see citing works

A missense mutation at codon 105 with codon 129 polymorphism of the prison protein gene in a new variant of Gerstmann‐Strassler‐Scheinker disease

Yamada, M., Itoh, Y., Fujigasaki, H., Naruse, S., Kaneko, K., Kitamoto, T., Tateishi, J., Otomo, E., Hayakawa, M., Tanaka, J., et al. (1993) · Neurology · doi:10.1212/wnl.43.12.2723-a · Cited by 44 · see citing works

Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene

Capellari, S., Cardone, F., Notari, S., Schininà, M. E., Maras, B., Sità, D., Baruzzi, A., Pocchiari, M., & Parchi, P. (2005) · Neurology · doi:10.1212/01.wnl.0000152837.82388.de · Cited by 43 · see citing works

Inherited prion encephalopathy associated with the novel PRNP H187R mutation

Bütefisch, C. M., Gambetti, P. L., Červen̆áková, L., Park, K.-Y., Hallett, M., & Goldfarb, L. G. (2000) · Neurology · doi:10.1212/wnl.55.4.517 · Cited by 43 · see citing works

Creutzfeldt–Jakob disease in Australia 1970–1999

Collins, S. J., Boyd, A., Lee, J. S., Lewis, V., Fletcher, A. A., McLean, C., Law, M. G., Kaldor, J. M., Smith, M. J., & Masters, C. L. (2002) · Neurology · doi:10.1212/01.wnl.0000031793.11602.8c · Cited by 42 · see citing works

Reducing Pervasive False-Positive Identical-by-Descent Segments Detected by Large-Scale Pedigree Analysis

Durand, E. Y., Eriksson, N., & McLean, C. Y. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/msu151 · Cited by 42 · see citing works

Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease

Minikel, E. V., Zerr, I., Collins, S. J., Ponto, C., Boyd, A., Klug, G. M., Karch, A., Kenny, J., Collinge, J., Takada, L. T., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.09.003 · Cited by 41 · see citing works

Creutzfeldt–Jakob disease associated with a deletion of two repeats in the prion protein gene

Capellari, S., Parchi, P., Wolff, B., Campbell, J., Atkinson, R., Posey, D., Petersen, R. B., & Gambetti, P. L. (2002) · Neurology · doi:10.1212/01.wnl.0000035533.86833.28 · Cited by 39 · see citing works

High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy

D'Alessandro, M., Petraroli, R. P., Ladogana, A., & Pocchiari, M. (1998) · The Lancet · doi:10.1016/s0140-6736(05)61335-9 · Cited by 38 · see citing works

Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment

Roeber, S., Krebs, B., Neumann, M., Windl, O., Zerr, I., Grasbon‐Frodl, E., & Kretzschmar, H. A. (2005) · Acta Neuropathologica · doi:10.1007/s00401-004-0978-0 · Cited by 34 · see citing works

A novel familial prion disease causing pan‐autonomic‐sensory neuropathy and cognitive impairment

Matsuzono, K., Ikeda, Y., Liu, W., Kurata, T., Deguchi, S., Deguchi, K., & Abe, K. (2013) · European Journal of Neurology · doi:10.1111/ene.12089 · Cited by 33 · see citing works

Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders

Peoc’h, K., Levavasseur, E., Delmont, É., Simone, A. D., Laffont-Proust, I., Privat, N., Chebaro, Y., Chapuis, C., Bedoucha, P., Brandel, J., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds377 · Cited by 33 · see citing works

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors

Kaski, D. N., Pennington, C. M., Beck, J. A., Poulter, M., Uphill, J. B., Bishop, M., Linehan, J. M., O’Malley, C., Wadsworth, J. D. F., Joiner, S., et al. (2011) · Brain · doi:10.1093/brain/awr079 · Cited by 31 · see citing works

A novel PRNP -P105S mutation associated with atypical prion disease and a rare PrP Sc conformation

Tunnell, E., Wollman, R., Mallik, S., Cortés, C. J., DeArmond, S. J., & Mastrianni, J. A. (2008) · Neurology · doi:10.1212/01.wnl.0000330237.94742.fa · Cited by 29 · see citing works

Clinical Characterization of a Kindred With a Novel 12-Octapeptide Repeat Insertion in the Prion Protein Gene

Kumar, N., Boeve, B. F., Boot, B. P., Orr, C., Duffy, J. R., Woodruff, B. K., Nair, A. K., Ellison, J. W., Kuntz, K., Kantarci, K., et al. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.187 · Cited by 29 · see citing works

Novel prion protein insert mutation associated with prolonged neurodegenerative illness

Lewis, V., Collins, S. J., Hill, A. F., Boyd, A., McLean, C., Smith, M. J., & Masters, C. L. (2003) · Neurology · doi:10.1212/01.wnl.0000065887.14609.0e · Cited by 28 · see citing works

Predictive testing for inherited prion disease: report of 22 years experience

Owen, J., Beck, J. A., Campbell, T., Adamson, G., Gorham, M., Thompson, A. G. B., Smithson, S., Rosser, E., Rudge, P., Collinge, J., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.42 · Cited by 27 · see citing works

PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China

Liu, Z., Longfei, J., Jing, Y., Zhang, X., Haiqing, S., Haiyan, L., Wang, F., Xiu-min, D., & Jia, J. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30761 · Cited by 27 · see citing works

Mortality trend from sporadic Creutzfeldt-Jakob disease (CJD) in Italy, 1993–2000

Puopolo, M., Ladogana, A., Almonti, S., Daude, N., Bevivino, S., Petraroli, R. P., Poleggi, A., Quanguo, L., & Pocchiari, M. (2003) · Journal of Clinical Epidemiology · doi:10.1016/s0895-4356(02)00606-6 · Cited by 26 · see citing works

A novel mutation I215V in the PRNP gene associated with Creutzfeldt–Jakob and Alzheimer’s diseases in three patients with divergent clinical phenotypes

Muñoz-Nieto, M., Ramonet, N., López-Gastón, J. I., Cuadrado‐Corrales, N., Calero, O., Díaz-Hurtado, M., Ipiens, J. R., y Cajal, S. R., de Pedro‐Cuesta, J., & Calero, M. (2012) · Journal of Neurology · doi:10.1007/s00415-012-6588-1 · Cited by 26 · see citing works

Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP

Roeber, S., Grasbon‐Frodl, E., Windl, O., Krebs, B., Xiang, W., Vollmert, C., Illig, T., Schröter, A., Arzberger, T., Weber, P., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002147 · Cited by 26 · see citing works

Genetic Creutzfeldt–Jakob disease with R208H mutation presenting as progressive supranuclear palsy

Matěj, R., Kovács, G. G., Johanidesová, S., Keller, J., Matějčková, M., Nováková, J., Šigut, V., Keller, O., & Rusina, R. (2012) · Movement Disorders · doi:10.1002/mds.24002 · Cited by 26 · see citing works

Novel compounds lowering the cellular isoform of the human prion protein in cultured human cells

Silber, B. M., Gever, J. R., Rao, S., Li, Z., Renslo, A. R., Widjaja, K., Wong, C., Giles, K., Freyman, Y., Elepano, M., et al. (2014) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2014.01.001 · Cited by 25 · see citing works

Gerstmann-Straüssler-Scheinker disease

Jones, M. S., Odunsi, S., du Plessis, D., Vincent, A. C., Bishop, M., Head, M. W., Ironside, J. W., & Gow, D. L. (2014) · Neurology · doi:10.1212/wnl.0000000000000500 · Cited by 25 · see citing works

Atypical Prion Protein Conformation in Familial Prion Disease with PRNP P105T Mutation

Polymenidou, M., Prokop, S., Jung, H. H., Hewer, E., Peretz, D., Moos, R., Tolnay, M., & Aguzzi, A. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00439.x · Cited by 25 · see citing works

Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment

Jeong, B., Jeon, Y., Lee, Y., Cho, H.-J., Park, S. J., Chung, D.-I., Kim, J., Kim, S. H., Ht, K., Choi, E., et al. (2010) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2010.01094.x · Cited by 24 · see citing works

Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease

Mouillet‐Richard, S., Teil, C., Lenne, M., Hugon, S., Taleb, O., & Laplanche, J. (1999) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(99)00179-3 · Cited by 24 · see citing works

Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene

Pietrini, V., Puoti, G., Limido, L., Rossi, G., Fede, G. D., Giaccone, G., Mangieri, M., F, T., Bondavalli, A., Mancia, D., et al. (2003) · Neurology · doi:10.1212/01.wnl.0000092017.74772.ca · Cited by 23 · see citing works

Creutzfeldt-Jakob disease with PRNP G114V mutation in a Chinese family

Liu, Z., Jia, L., Piao, Y.-S., Lü, D., Wang, F., Lv, H., Lu, Y., & Jia, J. (2009) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2009.01236.x · Cited by 22 · see citing works

Gerstmann-Sträussler-Scheinker disease due to a novel prion protein gene mutation

Hinnell, C., Coulthart, M., Jansen, G. H., Cashman, N. R., Lauzon, J., Clark, A., Costello, F., White, C., Midha, R., Wiebe, S. A., et al. (2011) · Neurology · doi:10.1212/wnl.0b013e31820a0ab2 · Cited by 22 · see citing works

Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

Rogaeva, E. A., Zadikoff, C., Ponesse, J. S., Schmitt‐Ulms, G., Kawarai, T., Sato, C., Salehi‐Rad, S., George‐Hyslop, P. S., & Lang, A. E. (2006) · Archives of Neurology · doi:10.1001/archneur.63.7.1016 · Cited by 22 · see citing works

Familial Creutzfeldt-Jakob Disease With an R208H-129V Haplotype and Kuru Plaques

Basset-Leobon, C., Uro‐Coste, E., Peoc’h, K., Haı̈k, S., Sazdovitch, V., Rigal, M., Andréoletti, O., Hauw, J., & Delisle, M. (2006) · Archives of Neurology · doi:10.1001/archneur.63.3.449 · Cited by 22 · see citing works

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation

Beck, J. A., Collinge, J., & Mead, S. (2011) · Brain · doi:10.1093/brain/awr294 · Cited by 22 · see citing works

Creutzfeldt–Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP

Nishida, Y., Sodeyama, N., Toru, Y., Toru, S., Kitamoto, T., & Mizusawa, H. (2004) · Neurology · doi:10.1212/01.wnl.0000144196.43430.e1 · Cited by 21 · see citing works

Unusual Clinical and Molecular-Pathological Profile of Gerstmann-Sträussler-Scheinker Disease Associated With a NovelPRNPMutation (V176G)

Simpson, M. A., Johanssen, V. A., Boyd, A., Klug, G. M., Masters, C. L., Li, Q., Pamphlett, R., McLean, C., Lewis, V., & Collins, S. J. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.165 · Cited by 20 · see citing works

Novel mutation of the PRNPgene of a clinical CJD case

Kotta, K., Paspaltsis, I., Bostantjopoulou, S., Latsoudis, H., Plaitakis, A., Kazis, D. A., Collinge, J., & Sklaviadis, T. (2006) · BMC Infectious Diseases · doi:10.1186/1471-2334-6-169 · Cited by 20 · see citing works

Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jacob disease

Shi, Q., Shen, X.-J., Zhou, W., Xiao, K., Zhang, X., Zhang, B., & Dong, X. (2014) · Prion · doi:10.4161/19336896.2014.967040 · Cited by 19 · see citing works

Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome

Bernardi, L., Cupidi, C., Frangipane, F., Anfossi, M., Gallo, M., Conidi, M. E., Vasso, F., Colao, R., Puccio, G., Curcio, S. A. M., et al. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.06.006 · Cited by 19 · see citing works

Novel PRNP mutation in a patient with a slow progressive dementia syndrome

Heinemann, U., Krasnianski, A., Meißner, B., Grasbon-Frodl, E. M., Kretzschmar, H. A., & Zerr, I. (2008) · PubMed · doi:10.5167/uzh-18180 · Cited by 18 · see citing works

Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene

Krebs, B., Lederer, R. M., Windl, O., Grasbon‐Frodl, E., Zerr, I., & Kretzschmar, H. A. (2005) · Neurogenetics · doi:10.1007/s10048-004-0208-x · Cited by 17 · see citing works

Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt–Jakob disease

Zhang, H., Wang, M., Wu, L., Zhang, H., Jin, T., Wu, J., & Sun, L. J. (2013) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2013.03.016 · Cited by 17 · see citing works

Can 23andMe have it all?

Servick, K. (2015) · Science · doi:10.1126/science.349.6255.1472 · Cited by 17 · see citing works

Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP)

Hilton, D. A., Head, M. W., Singh, V. K., Bishop, M. D., & Ironside, J. W. (2008) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2008.00964.x · Cited by 16 · see citing works

Pathologic Evidence That the T188R Mutation inPRNPIs Associated With Prion Disease

Tartaglia, M. C., Thai, J. N., See, T. M., Kuo, A. L., Harbaugh, R. E., Raudabaugh, B., Calì, I., Sattavat, M., Sanchez, H. C., DeArmond, S. J., et al. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181ffc39c · Cited by 15 · see citing works

Convection-Enhanced Delivery of AAV2-PrPshRNA in Prion-Infected Mice

Ahn, M., Bajsarowicz, K., Oehler, A., Lemus, A., Bankiewicz, K. S., & DeArmond, S. J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0098496 · Cited by 15 · see citing works

Rare V203I mutation in thePRNPgene of a Chinese patient with Creutzfeldt–Jakob disease

Shi, Q., Chen, C., Wang, X., Zhou, W., Wang, J., Zhang, B., Tian, C., Gao, C., Han, J., & Dong, X. (2013) · Prion · doi:10.4161/pri.24674 · Cited by 14 · see citing works

A new point mutation of the PRNP gene in Gerstmann-Sträussler-Scheinker case in Poland.

Bratosiewicz, J., Barcikowska, M., Červen̆áková, L., Brown, P., Gajdusek, D. C., & Liberski, P. P. (2000) · PubMed · Cited by 13 · see citing works

The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation inPRNP

Chen, C., Shi, Q. W., Tian, C., Li, Q., Zhou, W., Gao, C., Han, J., & Dong, X. (2011) · Prion · doi:10.4161/pri.5.3.16796 · Cited by 12 · see citing works

Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene

Komatsu, J., Sakai, K., Hamaguchi, T., Sugiyama, Y., Iwasa, K., & Yamada, M. (2014) · Prion · doi:10.4161/19336896.2014.971569 · Cited by 12 · see citing works

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease

Vita, M. G., Gaudino, S., Giuda, D. D., Sauchelli, D., Alboini, P. E., Gangemi, E., Bizzarro, A., Scaricamazza, E., Capellari, S., Parchi, P., et al. (2013) · Journal of Neurology · doi:10.1007/s00415-013-7078-9 · Cited by 9 · see citing works

Can Mortality Data Provide Reliable Indicators for Creutzfeldt-Jakob Disease Surveillance? A Study in France from 2000 to 2008

Brandel, J., Welaratne, A., Salomon, D., Capek, I., Vaillant, V., Aouaba, A., Haı̈k, S., & Alpérovitch, A. (2011) · Neuroepidemiology · doi:10.1159/000332764 · Cited by 9 · see citing works

Reply: Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation

Nozaki, I., Sakai, K., Kitamoto, T., & Yamada, M. (2011) · Brain · doi:10.1093/brain/awr295 · Cited by 4 · see citing works

Untitled work

Solano (2000) · doi:10.1002/1531-8249(200002)47:2 · Cited by 3 · see citing works

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

Parchi, P., Giese, A., Capellari, S., Brown, P., Schulz-Schaeffer, W., Windl, O., Zerr, I., Budka, H., Kopp, N., Piccardo, P., et al. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199908)46:2

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.004 · Cited by 1,391 · see citing works

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.042 · Cited by 1,224 · see citing works

Integrative omics for health and disease

Karczewski, K. J., & Snyder, M. P. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2018.4 · Cited by 1,158 · see citing works

A brief history of human disease genetics

Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works

Variant interpretation using population databases: Lessons from gnomAD

Gudmundsson, S., Singer‐Berk, M., Watts, N. A., Phu, W., Goodrich, J. K., Solomonson, M., Rehm, H. L., MacArthur, D. G., & O’Donnell‐Luria, A. (2021) · Human Mutation · doi:10.1002/humu.24309 · Cited by 681 · see citing works

Infant gut microbiome associated with cognitive development

Carlson, A. L., Xia, K., Azcarate-Peril, M. A., Goldman, B. D., Ahn, M., Styner, M. A., Thompson, A. L., Geng, X., Gilmore, J. H., & Knickmeyer, R. C. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.06.021 · Cited by 541 · see citing works

Rheological characterisation of ceramic inks for 3D direct ink writing: A review

del‐Mazo‐Barbara, L., & Ginebra, M. (2021) · Journal of the European Ceramic Society · doi:10.1016/j.jeurceramsoc.2021.08.031 · Cited by 455 · see citing works

New insights into the generation and role of de novo mutations in health and disease

Acuña‐Hidalgo, R., Veltman, J. A., & Hoischen, A. (2016) · Genome biology · doi:10.1186/s13059-016-1110-1 · Cited by 451 · see citing works

Objectives, design and main findings until 2020 from the Rotterdam Study

Ikram, M. A., Brusselle, G., Ghanbari, M., Goedegebure, A., Ikram, M. K., Kavousi, M., Kieboom, B. C. T., Klaver, C. C. W., de Knegt, R. J., Luik, A. I., et al. (2020) · European Journal of Epidemiology · doi:10.1007/s10654-020-00640-5 · Cited by 450 · see citing works

Using high-resolution variant frequencies to empower clinical genome interpretation

Whiffin, N., Minikel, E., Walsh, R., O’Donnell-Luria, A. H., Karczewski, K., Ing, A. Y., Barton, P. J. R., Funke, B., Cook, S. A., MacArthur, D., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.26 · Cited by 441 · see citing works

The Rotterdam Study: 2018 update on objectives, design and main results

Ikram, M. A., Brusselle, G., Murad, S. D., van Duijn, C. M., Franco, O. H., Goedegebure, A., Klaver, C. C. W., Nijsten, T. E. C., Peeters, R. P., Stricker, B. H. C., et al. (2017) · European Journal of Epidemiology · doi:10.1007/s10654-017-0321-4 · Cited by 431 · see citing works

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Niemi, M. E. K., Martin, H. C., Rice, D. L., Gallone, G., Gordon, S., Kelemen, M., McAloney, K., McRae, J., Radford, E. J., Yu, S., et al. (2018) · Nature · doi:10.1038/s41586-018-0566-4 · Cited by 340 · see citing works

Advanced Materials for Health Monitoring with Skin‐Based Wearable Devices

Jin, H., Abu‐Raya, Y. S., & Haick, H. (2017) · Advanced Healthcare Materials · doi:10.1002/adhm.201700024 · Cited by 317 · see citing works

Prions, prionoids and protein misfolding disorders

Scheckel, C., & Aguzzi, A. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0011-4 · Cited by 308 · see citing works

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

Kingdom, R., & Wright, C. F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.920390 · Cited by 294 · see citing works

The Genetic Landscape of Diamond-Blackfan Anemia

Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.027 · Cited by 272 · see citing works

The biological function of the cellular prion protein: an update

Wulf, M.-A., Senatore, A., & Aguzzi, A. (2017) · BMC Biology · doi:10.1186/s12915-017-0375-5 · Cited by 267 · see citing works

A Practical Guide for Transparency in Psychological Science

Klein, O., Hardwicke, T. E., Aust, F., Breuer, J., Danielsson, H., Mohr, A. H., IJzerman, H., Nilsonne, G., Vanpaemel, W., & Frank, M. C. (2018) · Collabra Psychology · doi:10.1525/collabra.158 · Cited by 233 · see citing works

Insulin Resistance in Alzheimer's Disease

Ferreira, L. S. S., Fernandes, C., Vieira, M. N. N., & Felice, F. G. D. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00830 · Cited by 229 · see citing works

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Wright, C. F., West, B., Tuke, M., Jones, S. E., Patel, K., Laver, T. W., Beaumont, R. N., Tyrrell, J., Wood, A. R., Frayling, T. M., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.12.015 · Cited by 212 · see citing works

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

Rutten, J. W., Dauwerse, H. G., Gravesteijn, G., van Belzen, M. J., van der Grond, J., Polke, J. M., Bernal-Quirós, M., & Oberstein, S. A. J. L. (2016) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.344 · Cited by 204 · see citing works

Evaluating drug targets through human loss-of-function genetic variation

Minikel, E. V., Karczewski, K. J., Martin, H. C., Cummings, B. B., Whiffin, N., Rhodes, D., Alföldi, J., Trembath, R. C., van Heel, D. A., Daly, M. J., et al. (2020) · Nature · doi:10.1038/s41586-020-2267-z · Cited by 182 · see citing works

Role of titin in cardiomyopathy: from DNA variants to patient stratification

Ware, J. S., & Cook, S. A. (2017) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2017.190 · Cited by 172 · see citing works

Thread-based multiplexed sensor patch for real-time sweat monitoring

Terse-Thakoor, T., Punjiya, M., Matharu, Z., Lyu, B., Ahmad, M., Giles, G. E., Owyeung, R. E., Alaimo, F., Baghini, M. S., Brunyé, T. T., et al. (2020) · npj Flexible Electronics · doi:10.1038/s41528-020-00081-w · Cited by 172 · see citing works

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretationPreprint

Traynelis, J. L., Silk, M. A., Wang, Q., Berkovic, S. F., Liu, L., Ascher, D. B., Balding, D. J., & Petrovski, S. (2017) · Genome Research · doi:10.1101/gr.226589.117 · Cited by 166 · see citing works

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

On behalf of the European Society of Human Genetics, de Wert, G. M. W. R., Dondorp, W., Clarke, A. J., Dequeker, E. M. C., Cordier, C., Deans, Z. C., van El, C. G., Fellmann, F., Hastings, R. J., et al. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-00758-w · Cited by 156 · see citing works

PrP is a central player in toxicity mediated by soluble aggregates of neurodegeneration-causing proteins

Corbett, G. T., Wang, Z., Hong, W., Colom‐Cadena, M., Rose, J. L., Liao, M., Asfaw, A., Hall, T. C., Ding, L., DeSousa, A., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02114-9 · Cited by 153 · see citing works

Antisense oligonucleotides extend survival of prion-infected mice

Raymond, G. J., Zhao, H. T., Race, B., Raymond, L. D., Williams, K., Swayze, E. E., Graffam, S., Le, J., Caron, T. J., Stathopoulos, J., et al. (2019) · JCI Insight · doi:10.1172/jci.insight.131175 · Cited by 144 · see citing works

Recent advances in the histo‐molecular pathology of human prion disease

Baiardi, S., Rossi, M., Capellari, S., & Parchi, P. (2018) · Brain Pathology · doi:10.1111/bpa.12695 · Cited by 143 · see citing works

Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints

Minikel, E. V., Zhao, H. T., Le, J., O’Moore, J., Pitstick, R., Graffam, S., Carlson, G. A., Kavanaugh, M. P., Križ, J., Kim, J. B., et al. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa616 · Cited by 140 · see citing works

Sporadic Creutzfeldt–Jakob disease

Zerr, I., & Parchi, P. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63945-5.00009-x · Cited by 136 · see citing works

Genetic PrP Prion Diseases

Kim, M.-O., Takada, L. T., Wong, K., Forner, S. A., & Geschwind, M. D. (2018) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a033134 · Cited by 130 · see citing works

Neutrophil phenotypes in health and disease

Hellebrekers, P., Vrisekoop, N., & Koenderman, L. (2018) · European Journal of Clinical Investigation · doi:10.1111/eci.12943 · Cited by 128 · see citing works

The effect of LRRK2 loss-of-function variants in humans

Whiffin, N., Armean, I. M., Kleinman, A., Marshall, J. L., Minikel, E. V., Goodrich, J. K., Quaife, N. M., Cole, J. B., Wang, Q. S., Karczewski, K. J., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-0893-5 · Cited by 125 · see citing works

The Genetic Basis of Metabolic Disease

Barroso, I., & McCarthy, M. I. (2019) · Cell · doi:10.1016/j.cell.2019.02.024 · Cited by 124 · see citing works

Brainwide silencing of prion protein by AAV-mediated delivery of an engineered compact epigenetic editor

Neumann, E. N., Bertozzi, T. M., Wu, E., Serack, F. E., Harvey, J. W., Brauer, P. P., Pirtle, C. P., Coffey, A. A., Howard, M., Kamath, N., et al. (2024) · Science · doi:10.1126/science.ado7082 · Cited by 120 · see citing works

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

Cardoso, L., Stevenson, M., & Thakker, R. V. (2017) · Human Mutation · doi:10.1002/humu.23337 · Cited by 119 · see citing works

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation

Homburger, J. R., Green, E. M., Caleshu, C. A., Sunitha, M. S., Taylor, R. E., Ruppel, K. M., Metpally, R. P. R., SHaRe Investigators, Colan, S. D., Michels, M., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1606950113 · Cited by 113 · see citing works

3D printing and modelling of customized implants and surgical guides for non-human primates.

Chen, X., Possel, J. K., Wacongne, C., van Ham, A. F., Klink, P. C., & Roelfsema, P. R. (2017) · Journal of Neuroscience Methods · doi:10.1016/j.jneumeth.2017.05.013 · Cited by 106 · see citing works

Creutzfeldt–Jakob disease and other prion diseases

Zerr, I., Ladogana, A., Mead, S., Hermann, P., Forloni, G., & Appleby, B. S. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00497-y · Cited by 106 · see citing works

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Manolio, T. A., Fowler, D. M., Starita, L. M., Haendel, M. A., MacArthur, D. G., Biesecker, L. G., Worthey, E. A., Chisholm, R. L., Green, E. D., Jacob, H. J., et al. (2017) · Cell · doi:10.1016/j.cell.2017.03.005 · Cited by 104 · see citing works

The Effect of Glucocorticoid and Glucocorticoid Receptor Interactions on Brain, Spinal Cord, and Glial Cell Plasticity

Madalena, K. M., & Lerch, J. K. (2017) · Neural Plasticity · doi:10.1155/2017/8640970 · Cited by 104 · see citing works

Electrochemically active materials and wearable biosensors for the in situ analysis of body fluids for human healthcare

Park, H., Park, W., & Lee, C. H. (2021) · NPG Asia Materials · doi:10.1038/s41427-020-00280-x · Cited by 104 · see citing works

Age at onset in genetic prion disease and the design of preventive clinical trials

Minikel, E. V., Vallabh, S. M., Orseth, M. C., Brandel, J., Haı̈k, S., Laplanche, J., Zerr, I., Parchi, P., Capellari, S., Safar, J., et al. (2019) · Neurology · doi:10.1212/wnl.0000000000007745 · Cited by 103 · see citing works

Expanding ACMG variant classification guidelines into a general framework

Masson, E., Zou, W., Génin, E., Cooper, D. N., Gac, G. L., Fichou, Y., Pu, N., Rebours, V., Férec, C., Liao, Z., et al. (2022) · Human Genomics · doi:10.1186/s40246-022-00407-x · Cited by 102 · see citing works

Fatal familial insomnia and sporadic fatal insomnia

Cracco, L., Appleby, B. S., & Gambetti, P. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63945-5.00015-5 · Cited by 101 · see citing works

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature

Takada, L. T., Kim, M., Cleveland, R. W., Wong, K., Forner, S. A., Illán‐Gala, I., Fong, J. C., & Geschwind, M. D. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32505 · Cited by 100 · see citing works

Learning of Artificial Sensation Through Long-Term Home Use of a Sensory-Enabled Prosthesis

Cuberovic, I., Gill, A., Resnik, L. J., Tyler, D. J., & Graczyk, E. L. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00853 · Cited by 99 · see citing works

The function of the cellular prion protein in health and disease

Watts, J. C., Bourkas, M. E. C., & Arshad, H. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1790-y · Cited by 97 · see citing works

Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases

Bagyinszky, E., Giau, V. V., Youn, Y. C., An, S. S. A., & Kim, S. (2018) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s165445 · Cited by 97 · see citing works

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

Mirshahi, U. L., Colclough, K., Wright, C. F., Wood, A. R., Beaumont, R. N., Tyrrell, J., Laver, T. W., Stahl, R. C., Golden, A. M., Goehringer, J., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.09.014 · Cited by 92 · see citing works

The current state of clinical interpretation of sequence variants

Hoskinson, D. C., Dubuc, A. M., & Mason‐Suares, H. (2017) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2017.01.001 · Cited by 91 · see citing works

Genetic Factors in Mammalian Prion Diseases

Mead, S., Lloyd, S. E., & Collinge, J. (2019) · Annual Review of Genetics · doi:10.1146/annurev-genet-120213-092352 · Cited by 91 · see citing works

Detection of low glucose levels in sweat with colorimetric wearable biosensors

Vaquer, A., Barón, E., & de la Rica, R. (2021) · The Analyst · doi:10.1039/d1an00283j · Cited by 89 · see citing works

Towards a treatment for genetic prion disease: trials and biomarkers

Vallabh, S. M., Minikel, E. V., Schreiber, S. L., & Lander, E. S. (2020) · The Lancet Neurology · doi:10.1016/s1474-4422(19)30403-x · Cited by 88 · see citing works

To Replicate or Not to Replicate? Exploring Reproducibility in Economics through the Lens of a Model and a Pilot Study

Maniadis, Z., Tufano, F., & List, J. A. (2017) · The Economic Journal · doi:10.1111/ecoj.12527 · Cited by 84 · see citing works

Genetic Creutzfeldt–Jakob disease

Ladogana, A., & Kovács, G. G. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63945-5.00013-1 · Cited by 84 · see citing works

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population

Chami, N., Preuss, M. H., Walker, R. W., Moscati, A., & Loos, R. J. F. (2020) · PLoS Medicine · doi:10.1371/journal.pmed.1003196 · Cited by 84 · see citing works

Infant gut microbiome composition is associated with non-social fear behavior in a pilot study

Carlson, A. L., Xia, K., Azcárate-Peril, M. A., Rosin, S. P., Fine, J. P., Mu, W., Zopp, J. B., Kimmel, M., Styner, M. A., Thompson, A. L., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-23281-y · Cited by 83 · see citing works

Key components of engineering vascularized 3-dimensional bioprinted bone constructs

Shahabipour, F., Ashammakhi, N. A., Oskuee, R. K., Bonakdar, S., Hoffman, T., Shokrgozar, M. A., & Khademhosseini, A. (2019) · Translational research · doi:10.1016/j.trsl.2019.08.010 · Cited by 81 · see citing works

Oral Vancomycin Prophylaxis Is Highly Effective in Preventing Clostridium difficile Infection in Allogeneic Hematopoietic Cell Transplant Recipients

Ganetsky, A., Han, J., Hughes, M. E., Babushok, D. V., Frey, N. V., Gill, S. I., Hexner, E. O., Loren, A. W., Luger, S. M., Mangan, J. K., et al. (2018) · Clinical Infectious Diseases · doi:10.1093/cid/ciy822 · Cited by 79 · see citing works

A thermoresponsive microfluidic system integrating a shape memory polymer-modified textile and a paper-based colorimetric sensor for the detection of glucose in human sweat

He, J., Xiao, G., Chen, X., Qiao, Y., Xu, D., & Lu, Z. (2019) · RSC Advances · doi:10.1039/c9ra02831e · Cited by 76 · see citing works

Cytokine engineering for targeted cancer immunotherapy

Bonati, L., & Tang, L. (2021) · Current Opinion in Chemical Biology · doi:10.1016/j.cbpa.2021.01.007 · Cited by 75 · see citing works

Interaction between Prion Protein's Copper-Bound Octarepeat Domain and a Charged C-Terminal Pocket Suggests a Mechanism for N-Terminal Regulation

Evans, E. G. B., Pushie, M. J., Markham, K. A., Lee, H., & Millhauser, G. L. (2016) · Structure · doi:10.1016/j.str.2016.04.017 · Cited by 75 · see citing works

PVA/PAA based electrospun nanofibers with pH-responsive color change using bromothymol blue and on-demand ciprofloxacin release properties

Arafat, M. T., Mahmud, M. M., Wong, S. Y., & Li, X. (2020) · Journal of Drug Delivery Science and Technology · doi:10.1016/j.jddst.2020.102297 · Cited by 71 · see citing works

Pharmacological inactivation of the prion protein by targeting a folding intermediate

Spagnolli, G., Massignan, T., Astolfi, A., Biggi, S., Rigoli, M., Brunelli, P., Libergoli, M., Ianeselli, A., Orioli, S., Boldrini, A., et al. (2021) · Communications Biology · doi:10.1038/s42003-020-01585-x · Cited by 69 · see citing works

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

McGurk, K. A., Zhang, X., Theotokis, P. I., Thomson, K. L., Harper, A. R., Buchan, R. J., Mazaika, E., Ormondroyd, E., Wright, W. T., Macaya, D., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.08.003 · Cited by 69 · see citing works

Bayesian approach to determining penetrance of pathogenic SDH variants

Benn, D. E., Zhu, Y., Andrews, K. A., Wilding, M., Duncan, E. L., Dwight, T., Tothill, R. W., Burgess, J. R., Crook, A., Gill, A. J., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105427 · Cited by 68 · see citing works

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

Loveday, C., Josephs, K. S., Chubb, D., Gunning, A. C., Izatt, L., Tischkowitz, M. D., Ellard, S., & Turnbull, C. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-02529 · Cited by 67 · see citing works

Cancer: A disease at the crossroads of trade‐offs

Jacqueline, C. M., Biro, P. A., Beckmann, C., Møller, A. P., Renaud, F., Sorci, G., Tasiemski, A., Újvári, B., & Frédéric Thomas, A. (2016) · Evolutionary Applications · doi:10.1111/eva.12444 · Cited by 65 · see citing works

The SPID-GBA study

Straniero, L., Asselta, R., Bonvegna, S., Rimoldi, V., Melistaccio, G., Soldà, G., Aureli, M., Porta, M. G. D., Lucca, U., Fonzo, A. D., et al. (2020) · Neurology Genetics · doi:10.1212/nxg.0000000000000523 · Cited by 63 · see citing works

Developing Therapeutics for PrP Prion DiseasesPreprint

Giles, K., Olson, S. H., & Prusiner, S. B. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a023747 · Cited by 62 · see citing works

Genetic testing in dementia — utility and clinical strategies

Koriath, C., Kenny, J., Ryan, N. S., Rohrer, J. D., Schott, J. M., Houlden, H., Fox, N. C., Tabrizi, S. J., & Mead, S. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-020-00416-1 · Cited by 60 · see citing works

The benefits of sensation on the experience of a hand: A qualitative case series

Graczyk, E. L., Gill, A., Tyler, D. J., & Resnik, L. J. (2019) · PLoS ONE · doi:10.1371/journal.pone.0211469 · Cited by 60 · see citing works

Neuronal excitatory-to-inhibitory balance is altered in cerebral organoid models of genetic neurological diseases

Foliaki, S. T., Schwarz, B. H., Groveman, B. R., Walters, R. O., Ferreira, N., Orru, C. D., Smith, A., Wood, A. R., Schmit, O. M., Freitag, P., et al. (2021) · Molecular Brain · doi:10.1186/s13041-021-00864-w · Cited by 59 · see citing works

Genetic aspects of human prion diseases

Appleby, B. S., Shetty, S., & Elkasaby, M. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.1003056 · Cited by 56 · see citing works

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J. A., Quinn, L. J. E., Mok, T. H., Dimitriadis, A., Norsworthy, P. J., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0224-0 · Cited by 56 · see citing works

Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease

Vallabh, S. M., Minikel, E. V., Williams, V. J., Carlyle, B. C., McManus, A. J., Wennick, C., Bolling, A. M., Trombetta, B. A., Urick, D., Nobuhara, C. K., et al. (2020) · BMC Medicine · doi:10.1186/s12916-020-01608-8 · Cited by 56 · see citing works

Phenotypic diversity of genetic Creutzfeldt–Jakob disease: a histo-molecular-based classification

Baiardi, S., Rossi, M., Mammana, A., Appleby, B. S., Barria, M. A., Calì, I., Gambetti, P. L., Gelpí, E., Giese, A., Ghetti, B. F., et al. (2021) · Acta Neuropathologica · doi:10.1007/s00401-021-02350-y · Cited by 55 · see citing works

In vivo base editing extends lifespan of a humanized mouse model of prion disease

An, M., Davis, J. R., Levy, J. M., Serack, F. E., Harvey, J. W., Brauer, P. P., Pirtle, C. P., Berríos, K. N., Newby, G. A., Yeh, W.-H., et al. (2025) · Nature Medicine · doi:10.1038/s41591-024-03466-w · Cited by 55 · see citing works

Monitoring of Pediatric Type 1 Diabetes

Marks, B. E., & Wolfsdorf, J. I. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00128 · Cited by 55 · see citing works

Colonization of Cutibacterium avidum during infant gut microbiota establishment

Martin, V. N. R., Schwab, C., Krych, Ł., Voney, E., Geirnaert, A., Braegger, C., & Lacroix, C. (2018) · FEMS Microbiology Ecology · doi:10.1093/femsec/fiy215 · Cited by 54 · see citing works

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification

Nicolas, G., Charbonnier, C., Campion, D., & Veltman, J. A. (2017) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32605 · Cited by 54 · see citing works

Synthesis and applications of graphene oxide aerogels in bone tissue regeneration: a review

Berrio, M. E., Oñate, Á., Salas, A., Fernández, K. F., & Melendrez, M. F. (2021) · Materials Today Chemistry · doi:10.1016/j.mtchem.2021.100422 · Cited by 54 · see citing works

Tumor microenvironment conditions that favor vessel co-option in colorectal cancer liver metastases: A theoretical model

Rada, M., Lazaris, A., Kapelanski‐Lamoureux, A., Mayer, T. Z., & Metrakos, P. P. (2020) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2020.09.001 · Cited by 53 · see citing works

Cellular Prion Protein (PrPc): Putative Interacting Partners and Consequences of the Interaction

Mahabadi, H. M., & Taghibiglou, C. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21197058 · Cited by 53 · see citing works

Prion Diseases

Tee, B. L., Longoria-Ibarrola, E. M., & Geschwind, M. D. (2018) · Neurologic Clinics · doi:10.1016/j.ncl.2018.07.005 · Cited by 53 · see citing works

How an Infection of Sheep Revealed Prion Mechanisms in Alzheimer’s Disease and Other Neurodegenerative Disorders

Carlson, G. A., & Prusiner, S. B. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22094861 · Cited by 51 · see citing works

Towards authentic transgenic mouse models of heritable PrP prion diseases

Watts, J. C., Giles, K., Bourkas, M. E. C., Patel, S. S., Oehler, A., Gavidia, M., Bhardwaj, S., Lee, J., & Prusiner, S. B. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1585-6 · Cited by 49 · see citing works

Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development

Vallabh, S. M., Nobuhara, C. K., Llorens, F., Zerr, I., Parchi, P., Capellari, S., Kuhn, E. W., Klickstein, J. A., Safar, J., Nery, F. C., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1901947116 · Cited by 49 · see citing works

The effect of bariatric surgery on breast cancer incidence and characteristics: A meta-analysis and systematic review

Lovrics, O., Butt, J., Lee, Y., Lovrics, P. J., Boudreau, V., Anvari, M., Hong, D., & Doumouras, A. G. (2021) · The American Journal of Surgery · doi:10.1016/j.amjsurg.2021.03.016 · Cited by 49 · see citing works

Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis

Sleat, D. E., Gedvilaite, E., Zhang, Y., Lobel, P., & Xing, J. (2016) · Gene · doi:10.1016/j.gene.2016.08.031 · Cited by 48 · see citing works

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

Olinger, E. G., Schaeffer, C., Kidd, K. O., Elhassan, E. A. E., Cheng, Y., Dufour, I., Schiano, G., Mabillard, H. R., Pasqualetto, E., Hofmann, P., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2114734119 · Cited by 48 · see citing works

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

Wright, C. F., Sharp, L. N., Jackson, L. M., Murray, A., Ware, J. S., MacArthur, D. G., Rehm, H. L., Patel, K., & Weedon, M. N. (2024) · Nature Genetics · doi:10.1038/s41588-024-01842-3 · Cited by 47 · see citing works

Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases

Roos, A., Thompson, R., Horváth, R., Lochmüller, H., & Sickmann, A. (2017) · PROTEOMICS - CLINICAL APPLICATIONS · doi:10.1002/prca.201700073 · Cited by 47 · see citing works

Pharmacological Agents Targeting the Cellular Prion Protein

Barreca, M. L., Iraci, N., Biggi, S., Cecchetti, V., & Biasini, E. (2018) · Pathogens · doi:10.3390/pathogens7010027 · Cited by 47 · see citing works

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

Johnson, S. R., Ellis, J. J., Leo, P. J., Anderson, L. K., Ganti, U., Harris, J. E., Curran, J. A., McInerney-Leo, A. M., Paramalingam, N., Song, X., et al. (2018) · Pediatric Diabetes · doi:10.1111/pedi.12766 · Cited by 46 · see citing works

Strong Inference in Mathematical Modeling: A Method for Robust Science in the Twenty-First Century

Ganusov, V. V. (2016) · Frontiers in Microbiology · doi:10.3389/fmicb.2016.01131 · Cited by 44 · see citing works

Open nanofluidic films with rapid transport and no analyte exchange for ultra-low sample volumes

Twine, N. B., Norton, R. M., Brothers, M. C., Hauke, A., Gomez, E. F., & Heikenfeld, J. (2018) · Lab on a Chip · doi:10.1039/c8lc00186c · Cited by 43 · see citing works

Prion variant pathogenicity through large-scale population sequencing

Burgess, D. J. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.9 · Cited by 2 · see citing works

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases

Ruhan, A., Jia, X.-X., Zhou, D.-H., Wu, Y.-Z., Wang, Y., Zhang, W. W., Xiao, K., Liang, D.-L., Gao, L., Zhou, W., et al. (2026) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzag054

Genetics of Prion Disease

Mastrianni, J. A. (2023) · Springer eBooks · doi:10.1007/978-3-031-20565-1_19 · Cited by 3 · see citing works

Evaluating the causality of novel sequence variants in the prion protein gene by example

Mok, T. H., Koriath, C., Jaunmuktane, Z., Campbell, T., Joiner, S., Wadsworth, J. D. F., Hosszu, L. L. P., Brandner, S., Parvez, A., Truelsen, T. C., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.05.011 · Cited by 12 · see citing works

Mortality of Individuals With PRNP Variants Associated With Prion Disease in the United States, 1998–2024

Lian, Y., Kotobelli, K., Glisic, K., Sprague, D. A., Vallabh, S. M., Appleby, B. S., & Minikel, E. V. (2026) · Neurology Genetics · doi:10.1212/nxg.0000000000200423 · Cited by 3 · see citing works