C
Celeste Sassi
Researcher at Humboldt University of Berlin
Publications - 28
Citations - 3554
Celeste Sassi is an academic researcher from Humboldt University of Berlin. The author has contributed to research in topics: Genome-wide association study & Frontotemporal dementia. The author has an hindex of 13, co-authored 25 publications receiving 2996 citations. Previous affiliations of Celeste Sassi include UCL Institute of Neurology & University College London.
Papers
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Journal ArticleDOI
TREM2 Variants in Alzheimer's Disease
Rita Guerreiro,Rita Guerreiro,Aleksandra Wojtas,Jose Bras,Minerva M. Carrasquillo,Ekaterina Rogaeva,Elisa Majounie,Carlos Cruchaga,Celeste Sassi,Celeste Sassi,John S. K. Kauwe,Steven G. Younkin,Lili-Naz Hazrati,John Collinge,Jennifer M. Pocock,Tammaryn Lashley,Julie Williams,Jean-Charles Lambert,Philippe Amouyel,Alison Goate,Rosa Rademakers,Kevin Morgan,John Powell,Peter St George-Hyslop,Peter St George-Hyslop,Andrew B. Singleton,John Hardy +26 more
TL;DR: Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease.
Journal ArticleDOI
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease
Carlos Cruchaga,Celeste M. Karch,Sheng Chih Jin,Bruno A. Benitez,Y Cai,Rita Guerreiro,Oscar Harari,Joanne Norton,John P. Budde,Sarah Bertelsen,AT Jeng,B Cooper,Tara Skorupa,David Carrell,D Levitch,S Hsu,Jae-Young Choi,Mina Ryten,John Hardy,Daniah Trabzuni,Michael E. Weale,Adaikalavan Ramasamy,Colin Smith,Celeste Sassi,Jose Bras,Gibbs,Dena G. Hernandez,Michelle K. Lupton,John Powell,Paola Forabosco,Perry G. Ridge,Chris Corcoran,JoAnn T. Tschanz,Maria C. Norton,Ronald G. Munger,Cameron Schmutz,M Leary,F. Y. Demirci,Mikhil Bamne,Xingbin Wang,Oscar L. Lopez,Mary Ganguli,Christopher Medway,James Turton,Jenny Lord,Anne Braae,Imelda Barber,Kristelle Brown,Peter Passmore,David Craig,Janet A. Johnston,Bernadette McGuinness,Stephen Todd,R. Heun,Heike Kölsch,Patrick G. Kehoe,Nigel M. Hooper,Emma R.L.C. Vardy,David M. A. Mann,Stuart Pickering-Brown,Noor Kalsheker,James Lowe,Kevin Morgan,David, Smith, A,Gordon K. Wilcock,Donald Warden,Clive Holmes,Pau Pastor,Oswaldo Lorenzo-Betancor,Zoran Brkanac,E Scott,Eric J. Topol,Ekaterina Rogaeva,Andrew B. Singleton,MI Kamboh,St, George-Hyslop, P,Nigel J. Cairns,John C. Morris,John S. K. Kauwe,Alison Goate +79 more
TL;DR: The genetic and functional data indicate that carriers of PLD3 coding variants have a twofold increased risk for LOAD and thatPLD3 influences APP processing, and provides an example of how densely affected families may help to identify rare variants with large effects on risk for disease or other complex traits.
TREM2 Variants in Alz hei mer's Disease
Rita Guerreiro,Aleksandra Wojtas,Jose Bras,Minerva M. Carrasquillo,Ekaterina Rogaeva,Elisa Majounie,Carlos Cruchaga,Celeste Sassi,Steven G. Younkin,Lili-Naz Hazrati,John Collinge,Jennifer M. Pocock,T. Lashley,Julie Williams,Jean-Charles Lambert,Philippe Amouyel,Alison Goate,Rosa Rademakers,Kevin Morgan,John Powell,Andrew Singleton,John G. Hardy +21 more
TL;DR: Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alz hei mer’s disease.
Journal ArticleDOI
Missense variant in TREML2 protects against Alzheimer's disease
Bruno A. Benitez,Sheng Chih Jin,Rita Guerreiro,Rita Guerreiro,R. R. Graham,Jenny Lord,Denise Harold,Rebecca Sims,Jean-Charles Lambert,Jean-Charles Lambert,Jean-Charles Lambert,J. Raphael Gibbs,J. Raphael Gibbs,Jose Bras,Celeste Sassi,Celeste Sassi,Oscar Harari,Sarah Bertelsen,Michelle K. Lupton,John Powell,Céline Bellenguez,Céline Bellenguez,Céline Bellenguez,Kristelle Brown,Christopher Medway,Patrick C.G. Haddick,Marcel P. van der Brug,Tushar Bhangale,Ward Ortmann,Timothy W. Behrens,Richard Mayeux,Margaret A. Pericak-Vance,Margaret A. Pericak-Vance,Lindsay A. Farrer,Gerard D. Schellenberg,Jonathan L. Haines,Jim Turton,Anne Braae,Imelda Barber,Anne M. Fagan,David M. Holtzman,John C. Morris,Julie Williams,John S. K. Kauwe,Philippe Amouyel,Philippe Amouyel,Philippe Amouyel,Kevin Morgan,AB Singleton,John Hardy,Alison Goate,Carlos Cruchaga,Carlos Cruchaga +52 more
TL;DR: Complete analyses using whole-exome sequencing data, cerebrospinal fluid biomarker analyses, meta-analyses and cell-based functional studies support the role of the TREML2 coding missense variant p.R47H (rs3747742) as a potential driver of the meta-analysis AD-associated genome-wide association studies signal.
Journal ArticleDOI
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
Monia B. Hammer,Ghada Eleuch-Fayache,Lucia Schottlaender,Houda Nehdi,J. Raphael Gibbs,J. Raphael Gibbs,Sampath Arepalli,Sean B. Chong,Dena G. Hernandez,Dena G. Hernandez,A Sailer,Guoxiang Liu,Pramod K. Mistry,Huaibin Cai,Ginamarie Shrader,Celeste Sassi,Celeste Sassi,Yosr Bouhlal,Henry Houlden,Fayçal Hentati,Rim Amouri,Andrew B. Singleton +21 more
TL;DR: This study suggests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylceramide storage disease in humans.