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Research Synopsis
The Institute of Prion Diseases Genetics, Epigenetics and bioinformatics group seeks to discover and understand genetic and epigenetic risk factors for Creutzfeldt-Jakob disease. Our core activity is genome wide (and epigenome wide) association study for which we receive samples from around the world. We have recently identified risk conferred by variants in or near to genes other than the prion protein gene. We are currently seeking to understand the mechanisms of these effects and their potential for therapeutic targeting. Other projects include the development of diagnostic classifiers using methylomics, use of population genetic techniques to explore the adaption of populations in Papua New Guinea to the kuru epidemic, the diagnosis of inherited prion disease, diagnosis of dementia and Huntington’s disease like syndromes using genomic technologies and development of biofluid biomarkers for CJD.
We are always interested to hear from potential new recruits to the team.
The Institute of Prion Diseases Genetics, Epigenetics and bioinformatics group seeks to discover and understand genetic and epigenetic risk factors for Creutzfeldt-Jakob disease. Our core activity is genome wide (and epigenome wide) association study for which we receive samples from around the world. We have recently identified risk conferred by variants in or near to genes other than the prion protein gene. We are currently seeking to understand the mechanisms of these effects and their potential for therapeutic targeting. Other projects include the development of diagnostic classifiers using methylomics, use of population genetic techniques to explore the adaption of populations in Papua New Guinea to the kuru epidemic, the diagnosis of inherited prion disease, diagnosis of dementia and Huntington’s disease like syndromes using genomic technologies and development of biofluid biomarkers for CJD.
We are always interested to hear from potential new recruits to the team.
Research Interests
Papers共 378 篇Author StatisticsCo-AuthorSimilar Experts
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Audrey Coulon, Florian Rabiller,Mari Takalo,Avishek Roy,Henna Martiskainen,Dolores Siedlecki-Wullich,Tiago Mendes, Celia Lemeu, Lukas-Iohan Carvalho, Anaël Ehrardt,Ana Raquel Melo de Farias,Marc Hulsman, Chloé Najdek, Nina Lannette-Weimann, Alejandra Freire-Regatillo,Philippe Amouyel,Camille Charbonnier, Orio Dols-Icardo,Heli Jeskanen,Roosa-Maria Willman,Teemu Kuulasmaa,Mitja Kurki,John Hardy, Richard Wagner,Sami Heikkinen,Henne Holstege,Petra Mäkinen,Gaël Nicolas,Simon Mead,Michael Wagner,Alfredo Ramirez,Tuomas Rauramaa,Aarno Palotie,Rebecca Sims,Hilkka Soininen,John van Swieten,Julie Williams,Céline Bellenguez,Benjamin Grenier-Boley, Carla Gelle,Erwan Lambert,Anne-Marie Ayral,Florie Demiautte,Marcos R. Costa,Séverine Deforges,Devrim Kilinc,Christophe Mulle,Julien Chapuis,Mikko Hiltunen,Julie Dumont,Jean-Charles Lambert
biorxiv(2024)
Cyril Pottier,Fahri Küçükali,Matt Baker,Anthony Batzler,Gregory D Jenkins,Marka van Blitterswijk,Cristina T Vicente,Wouter De Coster,Sarah Wynants, Pieter Van de Walle,Owen A Ross,Melissa E Murray,Júlia Faura,Stephen J Haggarty,Jeroen Gj van Rooij,Merel O Mol,Ging-Yuek R Hsiung,Caroline Graff,Linn Öijerstedt,Manuela Neumann,Yan Asmann,Shannon K McDonnell,Saurabh Baheti,Keith A Josephs,Jennifer L Whitwell,Kevin F Bieniek,Leah Forsberg,Hilary Heuer,Argentina Lario Lago,Ethan G Geier,Jennifer S Yokoyama, Alexis P Oddi,Margaret Flanagan,Qinwen Mao,John R Hodges,John B Kwok,Kimiko Domoto-Reilly,Matthis Synofzik,Carlo Wilke,Chiadi Onyike,Bradford C Dickerson,Bret M Evers,Brittany N Dugger,David G Munoz,Julia Keith,Lorne Zinman,Ekaterina Rogaeva,EunRan Suh,Tamar Gefen,Changiz Geula,Sandra Weintraub,Janine Diehl-Schmid,Martin R Farlow,Dieter Edbauer,Bryan K Woodruff,Richard J Caselli, Laura L Donker Kaat,Edward D Huey,Eric M Reiman,Simon Mead,Andrew King,Sigrun Roeber,Alissa L Nana,Nilufer Ertekin-Taner,David S Knopman,Ronald C Petersen,Leonard Petrucelli,Ryan J Uitti,Zbigniew K Wszolek,Eliana Marisa Ramos,Lea T Grinberg,Maria Luisa Gorno Tempini,Howard J Rosen,Salvatore Spina,Olivier Piguet,Murray Grossman,John Q Trojanowski,Dirk C Keene,Jin Lee-Way,Johannes Prudlo,Daniel H Geschwind,Robert A Rissman,Carlos Cruchaga,Bernardino Ghetti,Glenda M Halliday,Thomas G Beach,Geidy E Serrano,Thomas Arzberger,Jochen Herms,Adam L Boxer,Lawrence S Honig,Jean P Vonsattel,Oscar L Lopez,Julia Kofler,Charles L White,Marla Gearing,Jonathan Glass,Jonathan D Rohrer,David J Irwin,Edward B Lee,Vivianna Van Deerlin,Rudolph Castellani,Marsel M Mesulam,Maria C Tartaglia,Elizabeth C Finger,Claire Troakes,Safa Al-Sarraj,Bruce L Miller,Harro Seelaar,Neill R Graff-Radford,Bradley F Boeve,Ian Ra Mackenzie,John C van Swieten,William W Seeley,Kristel Sleegers,Dennis W Dickson,Joanna M Biernacka,Rosa Rademakers
medRxiv the preprint server for health sciences (2024)
Daljit Sangar,Elizabeth Hill,Kezia Jack,Mark Batchelor, Beenaben Mistry, Juan M Ribes,Graham S Jackson,Simon Mead,Jan Bieschke
eLife (2024)
NEUROSCIENTISTno. 4 (2024): 397-397
Neurologypp.319-367, (2024)
Holger Hummerich,Helen Speedy,Tracy Campbell,Lee Darwent,Elizabeth Hill,Steven Collins,Christiane Stehmann,Gabor G. Kovacs,Michael D. Geschwind,Karl Frontzek,Herbert Budka,Ellen Gelpi,Adriano Aguzzi,Sven J. van der Lee,Cornelia M. van Duijn,Pawel P. Liberski,Miguel Calero,Pascual Sanchez-Juan,Elodie Bouaziz-Amar,Jean-Louis Laplanche,Stephane Haik,Jean-Phillipe Brandel,Angela Mammana,Sabina Capellari,Anna Poleggi,Anna Ladogana,Maurizio Pocchiari,Saima Zafar,Stephanie Booth,Gerard H. Jansen,Ausrine Areskeviciute,Eva Lobner Lund,Katie Glisic,Piero Parchi,Peter Hermann,Inga Zerr,Brian S. Appleby,Jiri Safar,Pierluigi Gambetti,John Collinge,Simon Mead
PLOS ONEno. 7 (2024)
NATURE MEDICINEno. 3 (2024)
Fahri Küçükali,Elizabeth Hill, Tijs Watzeels, Holger Hummerich,Tracy Campbell,Lee Darwent,Steven Collins,Christiane Stehmann,Gabor G Kovacs,Michael D Geschwind,Karl Frontzek,Herbert Budka,Ellen Gelpi,Adriano AA Aguzzi,Sven J van der Lee,Cornelia M van Duijn,Pawel P Liberski,Miguel Calero,Pascual Sanchez-Juan,Elodie Bouaziz-Amar,Jean-Louis Laplanche,Stéphane Haïk,Jean-Phillipe Brandel,Angela Mammana,Sabina Capellari,Anna Poleggi,Anna Ladogana,Maurizio Pocchiari,Saima Zafar,Stephanie Booth,Gerard H Jansen,Aušrinė Areškevičiūtė,Eva Løbner Lund,Katie Glisic,Piero Parchi,Peter Hermann,Inga Zerr,Jiri Safar,Pierluigi Gambetti,Brian S Appleby,John Collinge,Kristel Sleegers,Simon H Mead
medrxiv(2024)
Olivier Quenez,Catherine Schramm, Kevin Cassinari,Aude Nicolas, Joan Groeneveld,Guillaume Huguet, Benjamin Grenier-Boley, Marc Hulsman, Anne-Claire Richard, Stéphane Rousseau, Shahzad Ahmad,Najaf Amin,Philippe Amouyel, Olivia Belbin, Céline Bellenguez, Claudine Berr, Anne Boland, Paola Bossù, Femke Bouwman, Jose Bras, Jordi Clarimon, Antonio Daniele, Jean-François Dartigues,Stéphanie Debette, Jean-François Deleuze, Nicola Denning, Oriol Dols-Icardo, Cornelia M, van Dujin, Victoria Fernandez, Wiesje M. van der Flier, Juan Fortea, Nick C. Fox, Ruth Frikke-Schmidt,Daniela Galimberti, Emmanuelle Genin, Roberta Ghidoni, Vilmantas Giedraitis, Johan J. P. Gille,Detelina Grozeva, Rita Guerreiro,Edna Grünblatt,John Hardy, Steffi G. Riedel-Heller, Mikko Hiltunen,Clive Holmes,Henne Holstege, Jakub Hort,Holger Hummerich, M. Arfan Ikram, M. Kamran Ikram, Martin Ingelsson, Iris E. Jansen,Amit Kawalia, Robert Kraaij, Patrick G. Kehoe, Marc Lathrop, Morgane Lacour, Afina W. Lemstra, Alberto Lleò,Lauren Luckcuck, Marcel M. A. M. Mannens, Rachel Marshall, Carlo Masullo,Simon Mead,Patrizia Mecocci, Alexandre de Mendonça,Alun Meggy, Shima Mehrabian, Merel O. Mol,Kevin Morgan, Alexandre Morin,Benedetta Nacmias, Penny J. Norsworthy,Florence Pasquier, Pau Pastor, Fabrizio Piras,Julius Popp,Alfredo Ramirez, Rachel Raybould, Richard Redon, Marcel J. T. Reinders,Fernando Rivadeneira, Jeroen G. J. van Rooij, Natalie S. Ryan, Salha Saad, Pascual Sanchez-Juan, Nikolaos Scarmeas, Philip Scheltens, Jonathan M. Schott, Davide Seripa,Daoud Sie, Rebecca Sims, Erik A. Sistermans,Sandro Sorbi,Kristel Sleegers, Resie van Spaendonk, John C. van Swieten,Niccolo Tesi, Betty M Tijms, André G. Uitterlinden,Magda Tsolaki,Pieter Jelle Visser,Michael Wagner, Julie Williams,Aline Zarea, David Wallon, Sébastien Jacquemont, Jean-Charles Lambert, Sven J. van der Lee,Camille Charbonnier, Gaël Nicolas
crossref(2024)
NATURE REVIEWS DISEASE PRIMERSno. 1 (2024)
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Author Statistics
#Papers: 376
#Citation: 29918
H-Index: 74
G-Index: 170
Sociability: 9
Diversity: 0
Activity: 3
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