53 research outputs found
HE-LHC: The High-Energy Large Hadron Collider – Future Circular Collider Conceptual Design Report Volume 4
- Author
- Abada A.
- Abbrescia M.
- AbdusSalam S. S.
- Abdyukhanov I.
- Abelleira Fernandez J.
- Abramov A.
- Aburaia M.
- Acar A. O.
- Adzic P. R.
- Agrawal P.
- Aguilar-Saavedra J. A.
- Aguilera-Verdugo J. J.
- Ahnen J. von
- Aiba M.
- Aichinger I.
- Aielli G.
- Akay A.
- Akhundov A.
- Aksakal H.
- Albacete J. L.
- Albergo S.
- Alekou A.
- Aleksa M.
- Aleksan R.
- Alemany Fernandez R. M.
- Alexahin Y.
- Alioli S.
- Alipour Tehrani N.
- Allanach B. C.
- Allport P. P.
- Altınlı M.
- Altmannshofer W.
- Alía R. G.
- Ambrosio G.
- Amorim D.
- Amstutz O.
- Anderlini L.
- Andreazza A.
- Andreini M.
- Andriatis A.
- Andris C.
- Andronic A.
- Angelucci M.
- Antinori F.
- Antipov S. A.
- Antonelli M.
- Antonello M.
- Antonioli P.
- Antusch S.
- Anulli F.
- Apolinário L.
- Apollinari G.
- Apollonio A.
- Appelö D.
- Appleby R. B.
- Apyan A.
- Apyan A.
- Arbey A.
- Arbuzov A.
- Arduini G.
- Arı V.
- Arias S.
- Armesto N.
- Arnaldi R.
- Arsenyev S. A.
- Arzeo M.
- Asai S.
- Aslanides E.
- Astapovych D.
- Atanasov M.
- Atieh S.
- Attié D.
- Auchmann B.
- Audurier A.
- Aull S.
- Aumon S.
- Aune S.
- Avino F.
- Avrillaud G.
- Aydın G.
- Azatov A.
- Azuelos G.
- Azzi P.
- Azzolini O.
- Azzurri P.
- Aßmann R. W.
- Bacchetta N.
- Bacchiocchi E.
- Bachacou H.
- Baek Y. W.
- Baglin V.
- Bai Y.
- Baird S.
- Baker M. J.
- Baldwin M. J.
- Ball A. H.
- Ballarino A.
- Banerjee S.
- Barber D. P.
- Barducci D.
- Barjhoux P.
- Barna D.
- Barnaföldi G. G.
- Barnes M. J.
- Barr A.
- Barranco García J.
- Barreiro Guimarães da Costa J.
- Bartmann W.
- Baryshevsky V.
- Barzi E.
- Bass S. A.
- Bastianin A.
- Baudouy B.
- Bauer F.
- Bauer M.
- Baumgartner T.
- Bautista-Guzmán I.
- Bayındır C.
- Beaudette F.
- Bedeschi F.
- Bellafont I.
- Bellagamba L.
- Bellegarde N.
- Belli E.
- Bellingeri E.
- Bellini F.
- Bellomo G.
- Belomestnykh S.
- Bencivenni G.
- Benedikt M.
- Bernardi G.
- Bernardi J.
- Bernet C.
- Bernhardt J. M.
- Bernini C.
- Berriaud C.
- Bertarelli A.
- Bertolucci S.
- Besana M. I.
- Besançon M.
- Beznosov O.
- Bhat C.
- Bhat P.
- Biagini M. E.
- Biarrotte J.-L.
- Bibet Chevalier A.
- Bielert E. R.
- Biglietti M.
- Bilei G. M.
- Bilki B.
- Biscari C.
- Bishara F.
- Blanco-García O. R.
- Blas J. de
- Blekman F.
- Blondel A.
- Blánquez F. R.
- Blümlein J.
- Boccali T.
- Boels R.
- Bogacz S. A.
- Bogomyagkov A.
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- Boland M. J.
- Bologna S.
- Bolukbasi O.
- Bomben M.
- Bondarenko S.
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- Bordini B.
- Bordry F.
- Borghello G.
- Borgonovi L.
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- Boscherini D.
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- Braccini V.
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- Brückman De Renstrom P.
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- Buffat X.
- Bulyak E.
- Burkart F.
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- Dubovyk I.
- Duda P.
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- Duellmann D.
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- El Khechen D.
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- Faus-Golfe A.
- Fawcett W. J.
- FCC Collaboration
- Felici G.
- Felsberger L.
- Ferdeghini C.
- Fernandez Navarro A. M.
- Fernández-Téllez A.
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- Florio M.
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- Garzia I.
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- Gerwig H.
- Giacomelli P.
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- Gianotti F.
- Giffoni F.
- Gil Costa M.
- Gilardoni S. S.
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- Giudice G. F.
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- Glukhov S.
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- Publication venue
- Springer Verlag
- Publication date
- 09/02/2021
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre-of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
FCC-ee: The Lepton Collider – Future Circular Collider Conceptual Design Report Volume 2
- Author
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- Abbrescia M.
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- Wilkinson G.
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- Zupan J.
- Zurita J.
- Özcan V.
- Özdemir K.
- Publication venue
- Springer Verlag
- Publication date
- 14/11/2019
- Field of study
Get PDFFCC-ee: The Lepton Collider: Future Circular Collider Conceptual Design Report Volume 2
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agaliotis EL
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Alaniz EC
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alexahin Y
- Alia RG
- Alioli S
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Ambrosio G
- Amorim D
- Amstutz O
- Anderlini L
- Andreazza A
- Andreini M
- Andriatis A
- Andris C
- Andronic A
- Angelucci M
- Antinori F
- Antipov SA
- Antonelli M
- Antonello M
- Antonioli P
- Antusch S
- Anulli F
- Apolinario L
- Apollinari G
- Apollonio A
- Appelo D
- Appleby RB
- Apyan A
- Apyan A
- Arbey A
- Arbuzov A
- Arduini G
- Ari V
- Arias S
- Armesto N
- Arnaldi R
- Arsenyev SA
- Arzeo M
- Asai S
- Aslanides E
- Assmann RW
- Astapovych D
- Atanasov M
- Atieh S
- Attie D
- Auchmann B
- Audurier A
- Aull S
- Aumon S
- Aune S
- Avino F
- Avrillaud G
- Aydin G
- Azatov A
- Azuelos G
- Azzi P
- Azzolini O
- Azzurri P
- Bacchetta N
- Bacchiocchi E
- Bachacou H
- Baek YW
- Baglin V
- Bai Y
- Baird S
- Baker MJ
- Baldwin MJ
- Ball AH
- Ballarino A
- Banerjee S
- Barber DP
- Barducci D
- Barjhoux P
- Barna D
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- Barnes MJ
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- Behr JK
- Bellafont I
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- Bencivenni G
- Benedikt M
- Bermudez SI
- Bernardi G
- Bernardi J
- Bernet C
- Bernhardt JM
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- Bertarelli A
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- Briffa JA
- Britzger D
- Brodsky SJ
- Brooke JJ
- Bruce R
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- Brunner O
- Bruzual HM
- Bruzzone P
- Buffat X
- Bulyak E
- Burkart F
- Burkhardt H
- Burnet J-P
- Butin F
- Buttazzo D
- Butterworth A
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- Publication venue
- SPRINGER HEIDELBERG
- Publication date
- 01/06/2019
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics, the Future Circular Collider (FCC) study was launched, as an international collaboration hosted by CERN. This study covers a highest-luminosity high-energy lepton collider (FCC-ee) and an energy-frontier hadron collider (FCC-hh), which could, successively, be installed in the same 100 km tunnel. The scientific capabilities of the integrated FCC programme would serve the worldwide community throughout the 21st century. The FCC study also investigates an LHC energy upgrade, using FCC-hh technology. This document constitutes the second volume of the FCC Conceptual Design Report, devoted to the electron-positron collider FCC-ee. After summarizing the physics discovery opportunities, it presents the accelerator design, performance reach, a staged operation scenario, the underlying technologies, civil engineering, technical infrastructure, and an implementation plan. FCC-ee can be built with today’s technology. Most of the FCC-ee infrastructure could be reused for FCC-hh. Combining concepts from past and present lepton colliders and adding a few novel elements, the FCC-ee design promises outstandingly high luminosity. This will make the FCC-ee a unique precision instrument to study the heaviest known particles (Z, W and H bosons and the top quark), offering great direct and indirect sensitivity to new physics
FCC Physics Opportunities: Future Circular Collider Conceptual Design Report Volume 1
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Ahnen JV
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Alaniz EC
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alexahin Y
- Alia RG
- Alioli S
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Amann RW
- Ambrosio G
- Amorim D
- Amstutz O
- Anderlini L
- Andreazza A
- Andreini M
- Andriatis A
- Andris C
- Andronic A
- Angelucci M
- Antinori F
- Antipov SA
- Antonelli M
- Antonello M
- Antonioli P
- Antusch S
- Anulli F
- Apolinario L
- Apollinari G
- Apollonio A
- Appeloe D
- Appleby RB
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- Valet JM
- Valizadeh R
- Valle JWF
- Vallecorsa S
- Vallone G
- van Leeuwen M
- van Riesen-Haupt L
- Varasteh M
- Vecchi L
- Vedrine P
- Velev G
- Veness R
- Ventura A
- Venturini Delsolaro W
- Verducci M
- Verhaaren CB
- Vernieri C
- Verweij AP
- Verwilligen O
- Viazlo O
- Vicini A
- Viehhauser G
- Vignaroli N
- Vignolo M
- Vita SD
- Vitrano A
- Vivarelli I
- Vlachos S
- Voelkl V
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- Vogt DM
- Volkov P
- Volpini G
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- Voutsinas GG
- Vysotsky V
- Wagner U
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- Wang K
- Wang L-T
- Wang R
- Ward BFL
- Was Z
- Watson NK
- Watson TP
- Weiland C
- Weinzierl S
- Welsch CP
- Wenninger J
- Widorski M
- Wiedemann UA
- Wienands H-U
- Wilkinson G
- Williams PH
- Winter A
- Wohlfahrt A
- Wojton T
- Wollmann D
- Womersley J
- Woog D
- Wu X
- Wulzer A
- Yanehsari MK
- Yanehsari MK
- Yang G
- Yang HJ
- Yao W-M
- Yazgan E
- Yermolchik V
- Yildiz HD
- Yilmaz A
- Yilmaz A
- Yoo H-D
- Yost SA
- You T
- Young C
- Yu F
- Yu T-T
- Zaborowska A
- Zadeh SG
- Zadeh SG
- Zahnd M
- Zanetti M
- Zanotto L
- Zawiejski L
- Zeiler P
- Zerlauth M
- Zernov SM
- Zevi Dell Porta G
- Zhang C
- Zhang H
- Zhang Y
- Zhang Z
- Zhao Z
- Zhong Y-M
- Zhou D
- Zhou J
- Zhuang P
- Zick G
- Zimmermann F
- Zinn-Justin J
- Zivkovic L
- Zlobin AV
- Zobov M
- Zupan J
- Zurita J
- Publication venue
- 'Springer Fachmedien Wiesbaden GmbH'
- Publication date
- 01/06/2019
- Field of study
Get PDFWe review the physics opportunities of the Future Circular Collider, covering its e+e-, pp, ep and heavy ion programmes. We describe the measurement capabilities of each FCC component, addressing the study of electroweak, Higgs and strong interactions, the top quark and flavour, as well as phenomena beyond the Standard Model. We highlight the synergy and complementarity of the different colliders, which will contribute to a uniquely coherent and ambitious research programme, providing an unmatchable combination of precision and sensitivity to new physics
HE-LHC: The High-Energy Large Hadron Collider: Future Circular Collider Conceptual Design Report Volume 4
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
- Alexahin Y
- Alia RG
- Alioli S
- Alipour Tehrani N
- Allanach BC
- Allport PP
- Altinli M
- Altmannshofer W
- Ambrosio G
- Amorim D
- Amstutz O
- Anderlini L
- Andreazza A
- Andreini M
- Andriatis A
- Andris C
- Andronic A
- Angelucci M
- Antinori F
- Antipov SA
- Antonelli M
- Antonello M
- Antonioli P
- Antusch S
- Anulli F
- Apolinario L
- Apollinari G
- Apollonio A
- Appeloe D
- Appleby RB
- Apyan A
- Apyan A
- Arbey A
- Arbuzov A
- Arduini G
- Ari V
- Arias S
- Armesto N
- Arnaldi R
- Arsenyev SA
- Arzeo M
- Asai S
- Aslanides E
- Assmann RW
- Astapovych D
- Atanasov M
- Atieh S
- Attie D
- Auchmann B
- Audurier A
- Aull S
- Aumon S
- Aune S
- Avino F
- Avrillaud G
- Aydin G
- Azatov A
- Azuelos G
- Azzi P
- Azzolini O
- Azzurri P
- Bacchetta N
- Bacchiocchi E
- Bachacou H
- Baek YW
- Baglin V
- Bai Y
- Baird S
- Baker MJ
- Baldwin MJ
- Ball AH
- Ballarino A
- Banerjee S
- Barber DP
- Barducci D
- Barjhoux P
- Barna D
- Barnafoldi GG
- Barnes MJ
- Barr A
- Barranco Garcia J
- Barreiro Guimaraes da Costa J
- Bartmann W
- Baryshevsky V
- Barzi E
- Bass SA
- Bastianin A
- Baudouy B
- Bauer F
- Bauer M
- Baumgartner T
- Bautista-Guzman I
- Bayindir C
- Beaudette F
- Bedeschi F
- Beguin M
- Bellafont I
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- Bellegarde N
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- Bellingeri E
- Bellini F
- Bellomo G
- Belomestnykh S
- Bencivenni G
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- Bernardi G
- Bernardi J
- Bernet C
- Bernhardt JM
- Bernini C
- Berriaud C
- Bertarelli A
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- Bovone G
- Bozbey A
- Bozovic Jelisavic I
- Bozzi C
- Bozzini D
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- de Blas J
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- De Lucia E
- de Rijk G
- De Roeck A
- de Vivie de Regie JB
- Deandrea A
- Debono CJ
- Deghaye S
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- Denner A
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- Duarte L
- Dubovyk I
- Duda P
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- Englert C
- Eriksson H
- Eskola KJ
- Esposito LS
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- Falkowski A
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- Farilla A
- Farinelli R
- Farinon S
- Faroughy DA
- Fartoukh SD
- Faus-Golfe A
- Fawcett WJ
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- Fiorendi S
- Fiorio C
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- Honorato CG
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- Ishino M
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- Jadach S
- Jamin DO
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- Jiang X
- Jimenez JM
- Jones MA
- Jones OR
- Jowett JM
- Jung S
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- Kannike K
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- Karpov I
- Kartal S
- Karyukhin A
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- Katharina Behr J
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- Thomas S
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- Yilmaz A
- Yilmaz A
- Yoo H-D
- Yost SA
- You T
- Young C
- Yu F
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- Zaborowska A
- Zadeh SG
- Zahnd M
- Zanetti M
- Zanotto L
- Zawiejski L
- Zeiler P
- Zerlauth M
- Zernov SM
- Zevi Dell Porta G
- Zhang C
- Zhang H
- Zhang Y
- Zhang Z
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- Zhong Y-M
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- Zinn-Justin J
- Zivkovic L
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- Zurita J
- Publication venue
- SPRINGER HEIDELBERG
- Publication date
- 01/07/2019
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre-of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
FCC-hh: The Hadron Collider: Future Circular Collider Conceptual Design Report Volume 3
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 18/12/2018
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
HE-LHC: The High-Energy Large Hadron Collider
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- Abbrescia M
- AbdusSalam SS
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 18/12/2018
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre-of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
FCC-hh: The Hadron Collider: Future Circular Collider Conceptual Design Report Volume 3
- Author
- Abada A
- Abbrescia M
- AbdusSalam SS
- Abdyukhanov I
- Abelleira Fernandez J
- Abramov A
- Aburaia M
- Acar AO
- Adzic PR
- Agrawal P
- Aguilar-Saavedra JA
- Aguilera-Verdugo JJ
- Aiba M
- Aichinger I
- Aielli G
- Akay A
- Akhundov A
- Aksakal H
- Albacete JL
- Albergo S
- Alekou A
- Aleksa M
- Aleksan R
- Alemany Fernandez RM
- Alexahin Y
- Alia RG
- Alioli S
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- Allanach BC
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- Zlobin AV
- Zobov M
- Zupan J
- Zurita J
- Publication venue
- SPRINGER HEIDELBERG
- Publication date
- 01/07/2019
- Field of study
Get PDFIn response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
- Author
- Akhtar Rizvi SR
- Antonarakis SE
- Audebert-Bellanger S
- Barr EE
- Berger SM
- Besnard T
- Blanc X
- Boisseau P
- Bonneau D
- Bouman A
- Brischoux-Boucher E
- Bréhéret F
- Bézieau S
- Caro-Llopis A
- Charles P
- Chung WK
- Cobb MH
- Cogné B
- Colin E
- Coury SA
- Deb W
- Denommé-Pichon A-S
- Duy PQ
- Friez MJ
- Gilbert-Dussardier B
- Grozeva D
- Guihard SH
- Haider S
- Hao LT
- Ilves P
- Isidor B
- Jaykumar AB
- Josiah SS
- Kahle KT
- Keren B
- Kiziltug E
- Kundishora AJ
- Küry S
- Le Guillou X
- Li H
- Lindenbaum P
- Louie RJ
- Martínez F
- McWalter K
- Mercier S
- Milla SS
- Monaghan KG
- Odent S
- Panchagnula S
- Pasquier L
- Pereira EM
- Pérez-Peña H
- Quinquis D
- Rajabi F
- Ranza E
- Raymond FL
- Redon R
- Reinson K
- Retterer K
- Rhodes L
- Rio M
- Robert SM
- Rosenfeld JA
- Scalais E
- Schmitt S
- Schwartz CE
- Seaby EG
- Stevenson RE
- Stouffs K
- Torti E
- Toutain A
- van Bever Y
- van Slegtenhorst M
- Vignard V
- Vincent M
- Wentzensen IM
- Wilson A
- Zeng X
- Zhang J
- Õunap K
- Publication venue
- 'Elsevier BV'
- Publication date
- 09/06/2022
- Field of study
Get PDFThis is the author accepted manuscript. The final version is available from Elsevier via the DOI in this recordData availability: All data are available upon request. The sequence variants in WNK3 (NM_004656.3) reported in the paper have been deposited in ClinVar database. Their respective accession numbers (SCV002107163 to SCV002107168) are indicated in Tables 1 and S1.Purpose
WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown.
Method
We ascertained exome or genome sequences of individuals with rare familial or sporadic forms of intellectual disability (ID).
Results
We identified a total of 6 different maternally-inherited, hemizygous, 3 loss-of-function or 3 pathogenic missense variants (p.Pro204Arg, p.Leu300Ser, p.Glu607Val) in WNK3 in 14 male individuals from 6 unrelated families. Affected individuals had identifier with variable presence of epilepsy and structural brain defects. WNK3 variants cosegregated with the disease in 3 different families with multiple affected individuals. This included 1 large family previously diagnosed with X-linked Prieto syndrome. WNK3 pathogenic missense variants localize to the catalytic domain and impede the inhibitory phosphorylation of the neuronal-specific chloride cotransporter KCC2 at threonine 1007, a site critically regulated during the development of synaptic inhibition.
Conclusion
Pathogenic WNK3 variants cause a rare form of human X-linked identifier with variable epilepsy and structural brain abnormalities and implicate impaired phospho-regulation of KCC2 as a pathogenic mechanism.Estonian Research CouncilNational Natural Science Foundation of ChinaRoyal SocietySouth Carolina Department of Disabilities and Special Needs (SCDDSN)National Institute of Neurological Disorders and Stroke (NINDS
The Letter of Aristeas and the Greek Translation of the Pentateuch in Egypt
- Author
- Publication venue
- 'Cambridge University Press (CUP)'
- Publication date
- Field of study
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