30 research outputs found
The Physics of the B Factories
- Author
- A Abashian
- A. A. Botov
- A. A. Grillo
- A. A. Korol
- A. A. Salnikov
- A. Abashian
- A. Adametz
- A. Agarwal
- A. Anjomshoaa
- A. B. Breon
- A. Bala
- A. Bay
- A. Bondar
- A. Bozek
- A. Buzzo
- A. C. Forti
- A. C. Wren
- A. Calcaterra
- A. Cecchi
- A. Cervelli
- A. Ceseracciu
- A. Chen
- A. Chuvikov
- A. Cotta Ramusino
- A. Crescente
- A. Cunha
- A. D. Bukin
- A. Das
- A. de Lesquen
- A. De Silva
- A. Dorigo
- A. Drutskoy
- A. Dvoretskii
- A. DâOrazio
- A. E. Rubin
- A. Farbin
- A. Fella
- A. Filippi
- A. Frey
- A. G. Denig
- A. Gaidot
- A. Garmash
- A. Gaz
- A. Go
- A. Gordon
- A. GoriĆĄek
- A. Hafner
- A. Hanushevsky
- A. Hasan
- A. Hauke
- A. Hicheur
- A. Höcker
- A. I. Panova
- A. I. Robertson
- A. Igarashi
- A. Ishikawa
- A. J. Bevan
- A. J. Edwards
- A. J. Hart
- A. J. Lankford
- A. J. Lyon
- A. J. Martinez
- A. J. R. Weinstein
- A. J. S. Smith
- A. J. Schwartz
- A. Jawahery
- A. K. McKemey
- A. K. Michael
- A. K. Mohapatra
- A. K. Yarritu
- A. Khan
- A. Khodjamirian
- A. Kibayashi
- A. Kirk
- A. Krasnykh
- A. Kreisel
- A. Kronfeld
- A. Kulikov
- A. Kurup
- A. Kusaka
- A. Kuzmin
- A. Lazzaro
- A. Limosani
- A. Lu
- A. Lusiani
- A. M. Bakich
- A. M. Boyarski
- A. M. Eichenbaum
- A. M. Eisner
- A. M. Gabareen
- A. M. Lutz
- A. M. Merchant
- A. M. Rahimi
- A. M. Ruland
- A. Manabe
- A. Mass
- A. Mathieu
- A. Matyja
- A. Mihalyi
- A. Mohapatra
- A. Moll
- A. Muir
- A. Murakami
- A. N. Yushkov
- A. Novokhatski
- A. Ogawa
- A. Olivas
- A. Oyanguren
- A. P. Onuchin
- A. P. Wagner
- A. Palano
- A. Penzkofer
- A. Perazzo
- A. Perez
- A. Petrella
- A. Petzold
- A. Pich
- A. Pilloni
- A. Poluektov
- A. Pompili
- A. R. Buzykaev
- A. R. Clark
- A. Randle-Conde
- A. Romosan
- A. Roodman
- A. Rossi
- A. Rostomyan
- A. Ryd
- A. Samuel
- A. Santroni
- A. Sarti
- A. Satpathy
- A. Seiden
- A. Sibidanov
- A. Sidorov
- A. Smol
- A. Snyder
- A. Soffer
- A. Soha
- A. Sokolov
- A. Somov
- A. Stocchi
- A. Sugi
- A. Sugiyama
- A. Suzuki
- A. T. Watson
- A. Trunov
- A. Tumanov
- A. V. Gritsan
- A. V. Telnov
- A. Valassi
- A. Vallereau
- A. Vinokurova
- A. Volk
- A. Vossen
- A. W. Borgland
- A. W. Weidemann
- A. Woch
- A. Y. Rakitin
- A. Yamaguchi
- A. Zallo
- A. Zghiche
- A. Zupanc
- A.I. Sekiya
- A.S. Fisher
- Aleksan
- ALEPH CDF, D0, DELPHI, L3, OPAL, SLD and the LEP, Tevatron and SLD Electroweak and Heavy Flavour Working Groups
- B. A. Petersen
- B. A. Schumm
- B. Aubert
- B. Bhuyan
- B. Brau
- B. Broomer
- B. C. K. Casey
- B. C. Shen
- B. C. Wray
- B. Camanzi
- B. Cheng
- B. Claxton
- B. D. Yabsley
- B. Dahmes
- B. Dey
- B. Di Girolamo
- B. Echenard
- B. Foster
- B. Franek
- B. G. Cheon
- B. G. Fulsom
- B. G. Zaslavsky
- B. Golob
- B. H. Kim
- B. Hamilton
- B. Harrop
- B. Hooberman
- B. J. Wogsland
- B. Kronenbitter
- B. L. Hartfiel
- B. Lewandowski
- B. Lindquist
- B. Malaescu
- B. Mayer
- B. Mellado
- B. N. Ratcliff
- B. Oberhof
- B. Pan
- B. R. Ko
- B. Reisert
- B. S. Ahn
- B. Serfass
- B. Shwartz
- B. Spaan
- B. Stugu
- B. T. Meadows
- B. Viaud
- B. W. Drummond
- B. Y. Han
- B. Zhang
- B.V. Grinyov
- Ball Ali
- Bartelt Aleksan
- Bernlochner and Schonherr
- Bigi Benson
- Blok Bigi
- Braaten Bodwin
- Braun Ball
- Buchalla Beneke
- Buchalla Beneke
- Buchalla Beneke
- Buchalla Beneke
- C. A. Chavez
- C. A. Heusch
- C. A. West
- C. Angelini
- C. B. Locke
- C. Beigbeder
- C. Borean
- C. Bozzi
- C. Brew
- C. Buchanan
- C. BĂŒnger
- C. C. Chiang
- C. C. Kuo
- C. C. Peng
- C. C. Wang
- C. C. Young
- C. C. Zhang
- C. Campagnari
- C. Cartaro
- C. Chen
- C. Condurache
- C. Dallapiccola
- C. Davies
- C. De la VaissiĂšre
- C. E. Marker
- C. Fabby
- C. Fanin
- C. Fukunaga
- C. G. West
- C. Gatto
- C. H. Cheng
- C. H. Kim
- C. H. Wang
- C. H. Wu
- C. Hagner
- C. Hast
- C. Hearty
- C. Hee
- C. J. Flacco
- C. J. Schilling
- C. Jacoby
- C. K. Clarke
- C. K. Lae
- C. Kiesling
- C. L. Brown
- C. L. Davis
- C. L. Edgar
- C. L. Hsu
- C. L. Lee
- C. L. Lim
- C. LeClerc
- C. Leonidopoulos
- C. Lindsay
- C. Liu
- C. Lu
- C. M. Brown
- C. M. Cormack
- C. M. Hawkes
- C. M. Jen
- C. Mackay
- C. Mindas
- C. Ng
- C. Niebuhr
- C. O. Vuosalo
- C. Oswald
- C. P. Jessop
- C. P. OâGrady
- C. P. Shen
- C. Padoan
- C. Patrignani
- C. Renard
- C. Rivetta
- C. Roat
- C. S. Lin
- C. S. Park
- C. Schwanda
- C. Sciacca
- C. T. Boeheim
- C. T. Day
- C. T. Hoi
- C. T. Potter
- C. Touramanis
- C. Van Hulse
- C. Voci
- C. Voena
- C. VoĂ
- C. W. Everton
- C. W. Park
- C. X. Yu
- C. Z. Yuan
- Ch. de la VaissiĂšre
- Ch. Thiebaux
- Ch. YĂ©che
- Chapovsky Beneke
- Cheung Braaten
- Contino Agashe
- Corazza Bernardini
- Cronin Christenson
- Czyz Rodrigo
- D. A. Bowerman
- D. A. Doll
- D. A. Hopkins
- D. A. Milanes
- D. A. Roberts
- D. A. Sanders
- D. Altenburg
- D. Andreotti
- D. Anipko
- D. Aston
- D. B. MacFarlane
- D. Beiline
- D. Bernard
- D. Bettoni
- D. Boutigny
- D. Breton
- D. C. Williams
- D. Cinabro
- D. Cote
- D. del Re
- D. Derkach
- D. Dujmic
- D. Dutta
- D. E. Azzopardi
- D. E. Hutchcroft
- D. E. Wagoner
- D. Epifanov
- D. Fortin
- D. G. Hitlin
- D. Gamba
- D. H. Kah
- D. H. Wright
- D. Heffernan
- D. Hufnagel
- D. I. Britton
- D. J. Asgeirsson
- D. J. Bard
- D. J. J. Mangeol
- D. J. Jackson
- D. J. Knowles
- D. J. Lange
- D. J. Payne
- D. J. Sherwood
- D. J. Summers
- D. Judd
- D. Kharakh
- D. Kirkby
- D. Kovalskyi
- D. L. Wagner
- D. Lindemann
- D. Liventsev
- D. Lopes Pegna
- D. M. Asner
- D. M. Rodriguez
- D. M. Wright
- D. Marlow
- D. Matvienko
- D. Mohapatra
- D. Monorchio
- D. N. Brown
- D. Nelson
- D. Newman-Coburn
- D. P. Coupal
- D. P. Stoker
- D. Piccolo
- D. R. Johnson
- D. R. Lavin
- D. R. Muller
- D. R. Peimer
- D. S. Bailey
- D. S. Best
- D. S. Chao
- D. S. Smith
- D. S. Yan
- D. Santel
- D. Semmler
- D. Smith
- D. Strom
- D. Su
- D. Teytelman
- D. Thiessen
- D. Troost
- D. van Winkle
- D. W. G. S. Leith
- D. W. Kim
- D. Walker
- D. Wallom
- D. Z. Shen
- D. Zander
- D. Zanin
- D. ZĂŒrcher
- D. Ćœontar
- Datta Browder
- De Rujula
- Degrassi Ciuchini
- Degrassi Ciuchini
- Dokshitzer Azimov
- Dunietz Aleksan
- DW Sivers
- DâAlesio Bacchetta
- E. A. Antillon
- E. A. Eckhart
- E. A. Kravchenko
- E. Antonioli
- E. Banas
- E. Baracchini
- E. Barberio
- E. Behn
- E. Ben-Haim
- E. Bloom
- E. Borsato
- E. C. Martin
- E. Campagna
- E. Charles
- E. Chen
- E. D. Frank
- E. Di Marco
- E. Erdos
- E. Feltresi
- E. Fioravanti
- E. Gabathuler
- E. Grauges
- E. Guido
- E. I. Rosenberg
- E. J. Hill
- E. Kato
- E. Kikutani
- E. Kou
- E. Kurihara
- E. L. Vinograd
- E. Lamanna
- E. Latour
- E. Leonardi
- E. Luppi
- E. M. Heenan
- E. M. T. Puccio
- E. Maly
- E. Manoni
- E. Mullin
- E. Nakano
- E. Nedelkovska
- E. O. Olaiya
- E. P. Solodov
- E. Panzenböck
- E. Paoloni
- E. Petigura
- E. Prebys
- E. Prencipe
- E. Robutti
- E. Roussot
- E. S. Swanson
- E. Salvati
- E. Sicard
- E. Soderstrom
- E. Solovieva
- E. Spencer
- E. Stevanato
- E. Torassa
- E. Torrence
- E. Treadwell
- E. Vallazza
- E. W. Thomas
- E. W. Tomassini
- E. W. Varnes
- E. White
- E. Won
- E. Won
- Eidelman Benayoun
- Eidelman Davier
- Eidelman Davier
- Ewerth Bobeth
- F. Anulli
- F. Bellini
- F. Bianchi
- F. Blanc
- F. Bosi
- F. Brochard
- F. Bucci
- F. C. Pastore
- F. C. Porter
- F. Colecchia
- F. Cossutti
- F. Couderc
- F. Dal Corso
- F. Daudo
- F. De Mori
- F. Di Lodovico
- F. Dohou
- F. Evangelisti
- F. F. Wilson
- F. Fabozzi
- F. Fang
- F. Ferrarotto
- F. Ferroni
- F. Forti
- F. Furano
- F. G. OâNeill
- F. Gaede
- F. Galeazzi
- F. Gallo
- F. Gastaldi
- F. Giordano
- F. Haitani
- F. Handa
- F. J. Decker
- F. J. Ronga
- F. Jackson
- F. Jensen
- F. Lanni
- F. Le Diberder
- F. Liu
- F. Mandl
- F. Martinez-Vidal
- F. Morsani
- F. Muheim
- F. Ohno
- F. Palombo
- F. Polci
- F. R. Wappler
- F. Raffaelli
- F. Renga
- F. Safai Tehrani
- F. Salvatore
- F. Sandrelli
- F. Simon
- F. Simonetto
- F. Tackmann
- F. Takasaki
- F. Taylor
- F. Thorne
- F. U. Bernlochner
- F. Winklmeier
- F. X. Yumiceva
- Fleming Bauer
- G. Alimonti
- G. B. Mohanty
- G. B. Mohanty
- G. Batignani
- G. Bellodi
- G. Benelli
- G. Blaylock
- G. Bonvicini
- G. Brandenburg
- G. Calderini
- G. Casarosa
- G. Castelli
- G. Cavoto
- G. Cerizza
- G. Cibinetto
- G. Cowan
- G. Crane
- G. Crosetti
- G. D. Lafferty
- G. Dahlinger
- G. De Domenico
- G. De Nardo
- G. Della Ricca
- G. Eigen
- G. F. Moorhead
- G. Finocchiaro
- G. Fouque
- G. Gokhroo
- G. Graziani
- G. Grosdidier
- G. Haller
- G. Hamel de Monchenault
- G. Iwai
- G. J. Grenier
- G. J. King
- G. Jackson
- G. Katano
- G. Kukartsev
- G. Leder
- G. Lynch
- G. M. Vitug
- G. Majumder
- G. Mancinelli
- G. Marchiori
- G. Markey
- G. Michelon
- G. N. Taylor
- G. Nesom
- G. Onorato
- G. P. Chen
- G. P. Dubois-Felsmann
- G. P. Gopal
- G. P. Taylor
- G. Pakhlova
- G. Piredda
- G. R. Bonneaud
- G. R. Moloney
- G. Ragghianti
- G. Raven
- G. Rizzo
- G. Rong
- G. S. Abrams
- G. Schnell
- G. Schott
- G. Sciolla
- G. Simi
- G. Tatishvili
- G. Thérin
- G. Tiozzo
- G. Triggiani
- G. Vaitsas
- G. Varner
- G. Vasileiadis
- G. Vasseur
- G. Vuagnin
- G. W. London
- G. W. Morton
- G. Wagner
- G. Williams
- G. Wormser
- G. Yocky
- G. Zioulas
- Gabrielli Gabbiani
- Gambino Aquila
- GC Branco
- Girlanda Davier
- Giudice DâAmbrosio
- Godfrey Eichten
- Golowich Burdman
- Golowich Burdman
- Golowich Donoghue
- Grinstein Arnesen
- Grinstein Cirigliano
- Grojean Csaki
- Gronau Beneke
- Gronau Chiang
- Grossman Giri
- Grossman Grinstein
- Grossman Gronau
- Grzelinska Czyz
- GĂłmez Dumm
- H. A. Tanaka
- H. Ahmed
- H. Aihara
- H. Atmacan
- H. B. Crawley
- H. B. Li
- H. Briand
- H. Bulten
- H. C. Ha
- H. C. Huang
- H. Cohn
- H. DeStaebler
- H. F. Chen
- H. F. Sung
- H. Farhat
- H. Fujii
- H. Futterschneider
- H. Guler
- H. H. F. Choi
- H. Ha
- H. Hamasaki
- H. Hanada
- H. Hayashii
- H. Hirano
- H. Hu
- H. Ikeda
- H. Ikeda
- H. Ishino
- H. Iwasaki
- H. J. Hyun
- H. J. Kim
- H. Jasper
- H. K. Hadavand
- H. K. Jang
- H. K. Park
- H. Kagan
- H. Kaji
- H. Kakuno
- H. Kawai
- H. Kichimi
- H. Kim
- H. Koch
- H. Koiso
- H. Konishi
- H. Kurashiro
- H. L. Lynch
- H. L. Snoek
- H. Lebbolo
- H. Li
- H. Liu
- H. M. Lacker
- H. M. Liu
- H. Mamada
- H. Marsiske
- H. Matsumoto
- H. Matsuo
- H. Miyake
- H. Miyata
- H. Nakayama
- H. Nakazawa
- H. Neal
- H. Nicholson
- H. O. Kim
- H. Ozaki
- H. P. Paar
- H. Palka
- H. Park
- H. Quinn
- H. R. Band
- H. R. Khan
- H. S. Ahn
- H. Sagawa
- H. Sahoo
- H. Sakamoto
- H. Sakaue
- H. Schmuecker
- H. Schröder
- H. Schwarz
- H. Shibuya
- H. Singh
- H. Staengle
- H. Steininger
- H. Stoeck
- H. Tajima
- H. U. Flaecher
- H. W. Kim
- H. W. Shorthouse
- H. W. Wulsin
- H. W. Zhao
- H. Yamaguchi
- H. Yamamoto
- H. Yamaoka
- H. Yanai
- H. Yang
- H. Yuta
- H.-Y. Cheng
- Hashimoto Harada
- He Liu
- Hiller Ali
- I. Adachi
- I. Adam
- I. Bedny
- I. Bingham
- I. Bizjak
- I. Eschrich
- I. Gaponenko
- I. Garzia
- I. Higuchi
- I. I. Bigi
- I. J. Forster
- I. J. R. Aitchison
- I. J. Scott
- I. Jaegle
- I. Kitayama
- I. L. Osipenkov
- I. M. Derrington
- I. M. Nugent
- I. M. Peruzzi
- I. Nagai
- I. Nakamura
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- K. Cho
- K. E. Alwyn
- K. E. Ford
- K. E. Varvell
- K. F. Chen
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- K. Furukawa
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- K. Hamano
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- K. Hasuko
- K. Hayasaka
- K. Hayashi
- K. Honscheid
- K. Hoshina
- K. Ikado
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- K. Inami
- K. Itagaki
- K. Itoh
- K. J. Knoepfel
- K. K. Gan
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- K. Kasami
- K. Kinoshita
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- K. L. Tsai
- K. M. Williams
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- K. Neichi
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- Y. Nagashima
- Y. Nakahama
- Y. Nishio
- Y. Nosochkov
- Y. Ogawa
- Y. Ohnishi
- Y. Ohshima
- Y. Onuki
- Y. P. Lau
- Y. Pan
- Y. Penichot
- Y. Q. Chen
- Y. Rozen
- Y. Rozen
- Y. S. Lin
- Y. S. Sohn
- Y. S. Velikzhanin
- Y. S. Zhu
- Y. Sakai
- Y. Sato
- Y. Settai
- Y. Susaki
- Y. T. Duh
- Y. T. Shen
- Y. T. Tsai
- Y. Tanaka
- Y. Teramoto
- Y. Tsujita
- Y. Uchida
- Y. Unno
- Y. Ushiroda
- Y. Usov
- Y. Usuki
- Y. W. Chang
- Y. W. Tung
- Y. Watanabe
- Y. Xie
- Y. Y. Gao
- Y. Yamada
- Y. Yamaoka
- Y. Yamashita
- Y. Yan
- Y. Yasu
- Y. Yoshimura
- Y. Yuan
- Y. Yusa
- Y. Zheng
- Yu. G. Kolomensky
- Yu.I. Skovpen
- Z. C. Clifton
- Z. DoleĆŸal
- Z. DrĂĄsal
- Z. G. Zhao
- Z. Georgette
- Z. Huard
- Z. J. Guo
- Z. M. Zhu
- Z. Natkaniec
- Z. P. Mao
- Z. P. Zhang
- Z. P. Zheng
- Z. Q. Liu
- Z. W. Yin
- Z. Yasin
- Z. Yu
- Z. Z. Xu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2014
- Field of study
This work is on the Physics of the B Factories. Part A of this book contains a brief description of the SLAC and KEK B Factories as well as their detectors, BaBar and Belle, and data taking related issues. Part B discusses tools and methods used by the experiments in order to obtain results. The results themselves can be found in Part C
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
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- Adenis C. (Claude)
- AittomÀki K. (Kristiina)
- Andrulis I.L. (Irene)
- Anton-Culver H. (Hoda)
- Antoniou A.C. (Antonis)
- Arndt V. (Volker)
- Arun B.K. (Banu)
- Arver B. (Brita Wasteson)
- Asperen C.J. (Christi) van
- Ausems M.G.E.M. (Margreet)
- Bandera E.V. (Elisa)
- Barile M. (Monica)
- Barjhoux L. (Laure)
- Barkardottir R.B. (Rosa B.)
- Barouk-Simonet E. (Emmanuelle)
- Barrowdale D. (Daniel)
- Barwell J. (Julian)
- Baurand A. (Amandine)
- Beckmann M.W. (Matthias)
- Beesley J. (Jonathan)
- Belotti M. (Muriel)
- BenĂtez J. (Javier)
- Berchuck A. (Andrew)
- Berthet P. (Pascaline)
- Bertolone G. (Geoffrey)
- Bignon Y.-J. (Yves-Jean)
- Birot A.-M. (Anne-Marie)
- Bisogna M. (Maria)
- Bjorge L. (Line)
- Blomqvist C. (Carl)
- Blot W.J. (William)
- Bock G.H. (Geertruida) de
- Bogdanova N.V. (Natalia)
- Bojesen A. (Anders)
- Bojesen S.E. (Stig)
- Bolla M.K. (Manjeet K.)
- Bonadona V. (Valérie)
- Bonnani B. (Bernardo)
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- Bourdon V. (Violaine)
- Boutry-Kryza N. (N.)
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- Brennan P. (Paul)
- Brenner H. (Hermann)
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- Burwinkel B. (Barbara)
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- Leeuwen F.E. (Flora) van
- Leroux D. (Dominique)
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- Lesueur F. (Fabienne)
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- Whittemore A.S. (Alice)
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- Wildiers H. (Hans)
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- Yannoukakos D. (Drakoulis)
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- Zheng W. (Wei)
- Zheng Y. (Ying)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 07/09/2016
- Field of study
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 Ă 10-20), ER-negative BC (P=1.1 Ă 10-13), BRCA1-associated BC (P=7.7 Ă 10-16) and triple negative BC (P-diff=2 Ă 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 Ă 10-3) and ABHD8 (P<2 Ă 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3âČ-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk
AI is a viable alternative to high throughput screening: a 318-target study
- Author
- Abaffy Tatjana
- Abraham Elena Theres
- AbrahaÌo JoÌnatas Santos
- Abramyan Tigran M.
- Agianian Bogos
- Agogo-Mawuli Percy
- Agoulnik Alexander I.
- Agrawal Rajendra K.
- Aguilera Elena
- Ahmed Mostafa
- Akk Gustav
- Akopian Tatos
- Al-Yozbaki Minnatallah
- Aldhamen Yasser Ali
- Alkan Cigdem
- Alramadhani Dina
- Alteen Matthew G.
- Alvarez GuzmaÌn
- Ammendola Serena
- Anastasio Noelle C.
- Anderson Brandon M.
- Anderson Deborah H.
- Andricopulo Adriano D.
- Angell Richard M.
- Anthis Nicholas J.
- Antonelli Lorenzo
- Apfel Athena Marie
- Arias Juan Antonio Sanchez
- Arozarena Imanol
- Arrigoni Cristina
- ArtiÌa Zoraima
- Ashkar Shireen R.
- Ashton Mark R.
- Austin Richard C.
- Ayachi Aicha Gharbi
- Azeem Syeda Maryam
- Bailey-Elkin Ben A.
- Balakrishnan Bijina
- BalanÌa-Fouce Rafael
- Ballatore Carlo
- Banerjee Sourav
- Banerji Versha
- Banjo Toshihiro
- Barghash Marim M.
- Batey Robert A.
- Battistoni Andrea
- Baumann Ulrich
- Bdira Fredj Ben
- Bedi Mel
- Ben-Johny Manu
- Bergman Bastiaan
- Bernard Denzil
- Berti Andrew
- Bharambe Nikhil
- Bishop Ozlem Tastan
- Blanchet Xavier
- Blelloch Robert
- Blumenthal Robert M.
- BognaÌr Gabriella
- Bogomolovas Julijus
- Bon Carlotta
- Boorman Jacob
- Borowska Anna
- Borriello Francesco
- Bowman Gregory R.
- Bradley Robert K.
- Bradshaw William J.
- Brady-Kalnay Susann M.
- Breton Hairol E.
- Bruning John B.
- Bruning John Burt
- Bryant-Friedrich Amanda
- Buckner Frederick S.
- Buroni Silvia
- Butler Brittany
- Byrne Lee J.
- Byun Soo Young
- Caflisch Amedeo
- Cakir Isin
- Caliandro Ileana
- Caljon Guy
- Cann Andrew B.
- Caporali Andrea
- Capuzzi Stephen J.
- Caroleo Maria Cristina
- Cathcart Ann M.
- Celano Stephanie L.
- Cerna Mark Vincent C. dela
- Chadni Somaia Haque
- Champion Matthew M.
- Chan Nei-Li
- Chapman Carly J.
- Chaton Catherine T.
- Chatterjee Arnab K.
- Chaudhuri Dipayan
- Chauhan Shefali
- Chaytow Helena
- Chen Daniel
- Chen Lifeng
- Chen Yicheng
- Chern Ting-Rong
- Chini Andrea
- Chou Tristan
- Chou Tsui-Fen
- Christensen Emily M.
- Christodoulides Myron
- Chu Shaoyou
- Chua Benjamin Soon Kai
- Chuah Janelle
- Chung Zara
- Chuong Patrick
- Ciccia Alberto
- Cildir GoÌkhan
- Cione Erika
- Clayton W. Brent
- Coles John G.
- Colomba Audrey
- Colotti Gianni
- Conn Graeme L.
- Conticello Silvestro G.
- Contreras Stephanie
- Cools Julie
- Coombe Deirdre R.
- Corson Timothy W.
- Cortopassi Gino
- Corvo Ileana
- Costoya Jose A.
- Cowen Leah E.
- Cox Bryan D.
- Cuddihy Andrew R.
- Cullinane Ryan T.
- Cunningham Kathryn A.
- Dahal Gopal
- Dallman Sydney
- Dame Remus T.
- Davtyan Aram
- De Keulenaer Gilles
- De Luise Monica
- de Oliveira Aldo Sena
- de Oliveira Saulo
- de Sousa Alessandra Mara
- de Souza Guilherme Eduardo
- Debonsi Hosana Maria
- Degterev Alexei
- DeHaan Nicholas
- Del Rio Flores Antonio
- Dempsey Garrett
- Desai Umesh R.
- Diallo Bakary Nâtji
- Dickhout Jeffrey
- Dickinson Bryan C.
- Dieck Chelsea L.
- Dirksen Dorian
- do Monte-Neto Rubens Lima
- Dolce Vincenza
- Donaldson William A.
- Douville ReneÌe N.
- Dowling David J.
- Drewry David H.
- Duggan Brendan M.
- Duncan Dustin
- Dymock Brian W.
- Dzhumaev Sergei
- DâAntuono Anna
- Ebright Richard H.
- Eckert Sam
- Edelman Benjamin L.
- Eitzen Gary
- ElSheikh Assmaa
- Englinger Bernhard
- Escaffre Olivier
- Espinoza Stefano
- Evans Jay D.
- Faller Kiterie M. E.
- Fan Erkang
- Fan Hua-Ying
- Fathallah M. Dahmani
- Feng Hui
- Ferrando Adolfo A.
- Ferraris Davide Maria
- Ferreira Jacob
- Ferreira Rafaela Salgado
- Fiermonte Giuseppe
- Finkelstein Joshua M.
- Fiorillo Annarita
- Fish Paul V.
- Foong Wuen Ee
- Foote Andrea Talbot
- Francisco Karol R.
- Frangos Zachary J.
- Fraser Cameron
- Freiberg Alexander N.
- Freywald Andrew
- Friedland Greg
- Fries Jacob
- Gadar Kavita
- Gandhi Neha S.
- Garaeva Alisa A.
- Garavaglia Silvia
- Garcia George A.
- GarciÌa-Cuesta Eva M.
- Garmendia Antonio E.
- Gasparre Giuseppe
- Gavathiotis Evripidis
- Gebauer Jan M.
- Geden Sandra E.
- Geisbrecht Brian V.
- Gelardi Edoardo Luigi Maria
- Gerwick William H.
- Ghilarducci Kim
- Ghosh Agnidipta
- Giardini Miriam A.
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- Wu Xiaoyang
- Wulff Heike
- Xiang Fei
- Xu Hongyang
- Xu Jiake
- Xu Jingyi
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- Yan Riqiang
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- Yen Yun
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- Yu Fang
- Yu Xinfang
- Yuan Haynes
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- Zahler Stefan
- Zeina Christina M.
- Zelinskaya Natalia
- Zhang Dingqiang
- Zhang Gang
- Zhang Wenjun
- Zhang Xu
- Zhang Yan Jessie
- Zhang Zhiguo
- Zhao Jinshi
- Zhou Han
- Zhou Hui
- Zhou Jia
- Zhou Pei
- Zhou Shan
- Zhu Jiaqi
- Zhu Siran
- Zhu Yini
- Zhuo Ling
- Zochodne Douglas William
- Publication venue
- Publication date
- 01/01/2024
- Field of study
: High throughput screening (HTS) is routinely used to identify bioactive small molecules. This requires physical compounds, which limits coverage of accessible chemical space. Computational approaches combined with vast on-demand chemical libraries can access far greater chemical space, provided that the predictive accuracy is sufficient to identify useful molecules. Through the largest and most diverse virtual HTS campaign reported to date, comprising 318 individual projects, we demonstrate that our AtomNetÂź convolutional neural network successfully finds novel hits across every major therapeutic area and protein class. We address historical limitations of computational screening by demonstrating success for target proteins without known binders, high-quality X-ray crystal structures, or manual cherry-picking of compounds. We show that the molecules selected by the AtomNetÂź model are novel drug-like scaffolds rather than minor modifications to known bioactive compounds. Our empirical results suggest that computational methods can substantially replace HTS as the first step of small-molecule drug discovery
The James Webb Space Telescope Mission
- Author
- Abbott Randy
- Abell James S.
- Abernathy Mark
- Abney Faith E.
- Abraham John G.
- Abraham Roberto
- Abul-Huda Yasin M.
- Acton Scott
- Adams Cynthia K.
- Adams Evan
- Adler David S.
- Adriaensen Maarten
- Aguilar Jonathan Albert
- Ahmed Mansoor
- Ahmed Nasif S.
- Ahmed Tanjira
- Alarcon Rafael Ramos
- Albat RĂŒdeger
- Albert LoĂŻc
- Alberts Stacey
- Aldridge David
- Allen Mary Marsha
- Allen Shaune S.
- Altenburg Martin
- Altunc Serhat
- Alvarez Jose Lorenzo
- Ambrose Leslie L.
- Anandakrishnan Satya M.
- Andersen Gregory C.
- Anderson Harry James
- Anderson Jay
- Anderson Kristen
- Anderson Sara M.
- Aprea Julio
- Archer Benita J.
- Arenberg Jonathan W.
- Argyriou Ioannis
- Arribas Santiago
- Artigau Ătienne
- Arvai Amanda Rose
- Atcheson Paul
- Atkinson Charles B.
- Averbukh Jesse
- Aymergen Cagatay
- Bacinski John J.
- Baggett Wayne E.
- Bagnasco Giorgio
- Baker Lynn L.
- Balzano Vicki Ann
- Banks Kimberly A.
- Baran David A.
- Barker Elizabeth A.
- Barrett Larry K.
- Barringer Bruce O.
- Barto Allison
- Bast William
- Baudoz Pierre
- Baum Stefi
- Beatty Thomas G.
- Beaulieu Mathilde
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- Beck Tracy
- Beddard Megan M.
- Beichman Charles
- Bellagama Larry
- Bely Pierre
- Berger Timothy W.
- Bergeron Louis E.
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- Bjorklund Kurt F.
- Blackwood James D.
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- Ling Sai-Kwong
- Link Lisa J.
- Link Miranda Nicole
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- Lund III James M.
- Lundquist Ray A.
- Lunine Jonathan
- Lynch Richard J.
- LĂłpez-Caniego Marcos
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- Roteliuk Anthony F.
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- Rouzaud Sylvain
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- Schneider Analyn
- Schreiber JĂŒrgen
- Schroeven-Deceuninck Hilde
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- Seaton Bonita L.
- Seely Bruce S.
- Seery Bernard
- Seidleck Mark
- Sembach Kenneth
- Shanahan Clare Elizabeth
- Shaughnessy Bryan
- Shaw Richard A.
- Shay Christopher Michael
- Sheehan Even
- Sheth Kartik
- Shih Hsin-Yi
- Shivaei Irene
- Siegel Noah
- Sienkiewicz Matthew G.
- Simmons Debra D.
- Simon Bernard P.
- Sirianni Marco
- Sivaramakrishnan Anand
- Slade Jeffrey E.
- Sloan G. C.
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- Slowinski Steven E.
- Smith Corbett T.
- Smith Eric P.
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- Stewart Alphonso C.
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- Stockman Jr. Hervey
- Strada Paolo
- Straughn Amber N.
- Streetman Scott
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- Strobele Jingping F.
- Stuhlinger Martin
- Stys Jeffrey Edward
- Such Miguel
- Sukhatme Kalyani
- Sullivan Joseph F.
- Sullivan Pamela C.
- Sumner Sandra M.
- Sun Fengwu
- Sunnquist Benjamin Dale
- Swade Daryl Allen
- Swam Michael S.
- Swenton Diane F.
- Swoish Robby A.
- Tamas Laszlo
- Tao Andrew
- Taylor David K.
- Taylor Joanna M.
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- Temim Tea
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- Thatte Deepashri G.
- Thompson Christopher Lee
- Thompson Linda M.
- Thomson Shaun R.
- Thronson Harley
- Tierney C. M.
- Tikkanen Tuomo
- Tinnin Lee
- Tippet William Thomas
- Todd Connor William
- Tran Hien D.
- Trauger John
- Trejo Edwin Gregorio
- Truong Justin Hoang Vinh
- Tsukamoto Christine L.
- Tufail Yasir
- Tumlinson Jason
- Tustain Samuel
- Tyra Harrison
- Ubeda Leonardo
- Underwood Kelli
- Uzzo Michael A.
- Vaclavik Steven
- Valenduc Frida
- Valenti Jeff A.
- Van Campen Julie
- van de Wetering Inge
- Van Der Marel Roeland P.
- van Dishoeck Ewine F.
- van Haarlem Remy
- Van Tea Mason
- Vandenbussche Bart
- Vanterpool Dona D.
- Vernoy Michael R.
- Volk Kevin
- Voorzaat Piet
- Voyton Mark F.
- Vydra Ekaterina
- Waddy Darryl J.
- Waelkens Christoffel
- Wahlgren Glenn Michael
- Walker Jr. Frederick E.
- Wander Michel
- Warfield Christine K.
- Warner Gerald
- Wasiak Francis C.
- Wasiak Matthew F.
- Wehner James
- Weiler Kevin R.
- Weilert Mark
- Weiss Stanley B.
- Wells Martyn
- Welty Alan D.
- Wheate Lauren
- Wheeler Thomas P.
- White Christy L.
- Whitehouse Paul
- Whiteleather Jennifer Margaret
- Whitman William Russell
- Williams Christina C.
- Willmer Christopher N. A.
- Willott Chris J.
- Willoughby Scott P.
- Wilson Andrew
- Wilson Debra
- Wilson Donna V.
- Windhorst Rogier
- Wislowski Emily Christine
- Wolfe David J.
- Wolfe Michael A.
- Wolff Schuyler
- Wondel Amancio
- Woo Cindy
- Woods Robert T.
- Worden Elaine
- Workman William
- Wright Gillian S.
- Wu Carl
- Wu Chi-Rai
- Wun Dakin D.
- Wymer Kristen B.
- Yadetie Thomas
- Yan Isabelle C.
- Yang Keith C.
- Yates Kayla L.
- Yeager Christopher R.
- Yerger Ethan John
- Young Erick T.
- Young Gary
- Yu Gene
- Yu Susan
- Zak Dean S.
- Zeidler Peter
- Zepp Robert
- Zhou Julia
- Zincke Christian A.
- Zonak Stephanie
- Zondag Elisabeth
- Ălvarez-MĂĄrquez Javier
- Ăstlin Göran
- Publication venue
- Publication date
- 10/04/2023
- Field of study
Twenty-six years ago a small committee report, building on earlier studies,
expounded a compelling and poetic vision for the future of astronomy, calling
for an infrared-optimized space telescope with an aperture of at least 4m.
With the support of their governments in the US, Europe, and Canada, 20,000
people realized that vision as the 6.5m James Webb Space Telescope. A
generation of astronomers will celebrate their accomplishments for the life of
the mission, potentially as long as 20 years, and beyond. This report and the
scientific discoveries that follow are extended thank-you notes to the 20,000
team members. The telescope is working perfectly, with much better image
quality than expected. In this and accompanying papers, we give a brief
history, describe the observatory, outline its objectives and current observing
program, and discuss the inventions and people who made it possible. We cite
detailed reports on the design and the measured performance on orbit.Comment: Accepted by PASP for the special issue on The James Webb Space
Telescope Overview, 29 pages, 4 figure
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- Author
- Aalfs Cora M.
- Adank Muriel A.
- Adenis Claude
- Adlard Julian
- Agata Simona
- Aghmesheh Morteza
- Agnarsson Bjarni A.
- Ahearn Thomas
- AittomÀki Kristiina
- Ambrosone Christine B.
- Amor David
- Andrews Lesley
- Andrulis Irene L.
- Antill Yoland
- Anton-Culver Hoda
- Antonenkova Natalia N.
- Antoniou Antonis C.
- Armitage Shane
- Arndt Volker
- Arnold Leanne
- Arnold Norbert
- Aronson Kristan J.
- Arun Banu K.
- Asseryanis Ella
- Auber Bernd
- Auvinen PĂ€ivi
- Azzollini Jacopo
- Balleine Rosemary
- Balmaña Judith
- Barkardottir Rosa B.
- Barnes Daniel R.
- Barouk-Simonet Emmanuelle
- Barrowdale Daniel
- Barwell Julian
- Bastick Patti
- Baurand Amandine
- Baxter Robert
- Beane Freeman Laura E.
- Beauparlant Charles Joly
- Beckmann Matthias W.
- Beesley Jonathan
- Behrens Sabine
- Beilby John
- Belotti Muriel
- Benitez Javier
- Bennett Ian
- Berger Raanan
- Bermisheva Marina
- Berthet Pascaline
- Bertolone Geoffrey
- Bertrand Ophélie
- Bignon Yves-Jean
- Birot Anne-Marie
- Blackburn Anneke
- Blanco Amie M.
- Blomqvist Carl
- Bogdanova Natalia V.
- Bogliolo Massimo
- Bogwitz Michael
- Bojesen Anders
- Bojesen Stig E.
- Bolla Manjeet K.
- Bonadona Valérie
- Bonanni Bernardo
- Bonnet Françoise
- Borg Ake
- Botes Leon
- Bourdon Violaine
- Boutry-Kryza Nadia
- Brady Angela F.
- Brauch Hiltrud
- Braye Stephen
- Brennan Meagan
- Brenner Hermann
- Bressac-de-Paillerets Brigitte
- Bronner Myriam
- Brown Melissa
- BrĂŒning Thomas
- Bubien Virginie
- Buckley Michael
- Buecher Bruno
- Burgess Matthew
- Burke Jo
- Burwinkel Barbara
- Butow Phyllis
- Buys Saundra S.
- Bézieau Stéphane
- Cadoo Karen
- Caldon Liz
- Caldés Trinidad
- Caleca Laura
- Calender Alain
- Caliebe Almuth
- Caligo Maria A.
- Callen David
- Campa Daniele
- Campbell Ian G.
- Canzian Federico
- Caputo Sandrine
- Caron Olivier
- Carpenter Jane
- Castelao Jose E.
- Castera Laurent
- Catucci Irene
- Chang-Claude Jenny
- Chanock Stephen J.
- Chauhan Deepa
- Chauhan Manisha
- Chenevix-Trench Georgia
- Chiesa Jean
- Christian Alice
- Chung Wendy K.
- Claes Kathleen B. M.
- Clarke Christine L.
- Cohen Paul
- Colas Chrystelle
- Collavoli Anita
- Colley Alison
- Collonge-Rame Marie-AgnĂšs
- Conner Thomas A.
- Coron Fanny
- Couch Fergus J.
- Coulet Florence
- Coupier Isabelle
- Cox David G.
- Crook Ashley
- Cui James
- Culling Bronwyn
- Cummings Margaret
- Cybulski Cezary
- Czene Kamila
- Dahlstrom Jane
- Daly Mary B.
- Damette Alexandre
- Dawson Sarah-Jane
- de la Hoya Miguel
- de Pauw Antoine
- DeFazio Anna
- Delatycki Martin
- Delnatte Capucine
- Dennis Joe
- Devilee Peter
- Dickson Rebecca
- Diez Orland
- Ding Yuan Chun
- Dite Gillian S.
- Ditsch Nina
- Dixon Joanne
- Dobrovic Alexander
- Domchek Susan M.
- Dorfling Cecilia M.
- dos-Santos-Silva Isabel
- Dreyfus HĂ©lĂšne
- Dudding Tracy
- Dumont Aurélie
- Dunning Alison M.
- Dupré Anaïs
- Durda Katarzyna
- Dwek Miriam
- Dörk Thilo
- Easton Douglas F.
- Eccles Diana M.
- Edkins Ted
- Edwards Stacey
- Eisenbruch Maurice
- Ekici Arif B.
- Eliassen A. Heather
- Ellberg Carolina
- Eriksson Mikael
- Evans D. Gareth
- Faivre Laurence
- Farshid Gelareh
- Fasching Peter A.
- Feillel Viviane
- Fellows Andrew
- Fenton Georgina
- Fert-Ferrer Sandra
- Field Michael
- Figlioli Gisella
- Figueroa Jonine
- Flanagan James
- Flyger Henrik
- Fong Peter
- Forbes John
- Forrest Laura
- Fostira Florentia
- Foulkes William D.
- Fourme Emmanuelle
- Fox Stephen
- French Juliet
- Friebel Tara M.
- Friedlander Michael
- Friedman Eitan
- Gabrielson Marike
- Gaddam Pragna
- Gaff Clara
- Gago-Dominguez Manuela
- Gallego-Ortega David
- Gao Chi
- Gapstur Susan M.
- Garber Judy
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- GarcĂa-SĂĄenz JosĂ© A.
- Gattas Mike
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- George Peter
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- Gill Grantley
- Giraud Sophie
- Gladieff Laurence
- Glendon Gord
- Godwin Andrew K.
- Goldberg Mark S.
- Goldgar David E.
- Golmard Lisa
- Greene Mark H.
- Greening Sian
- Guillaud-Bataille Marine
- Guimbaud Rosine
- Gutierrez-Barrera Angelica M.
- Guénel Pascal
- Haan Eric
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A.
- Hall Per
- Hamann Ute
- Harrington Patricia A.
- Harris Marion
- Hart Stewart
- Hayward Nick
- Hein Alexander
- Heiniger Louise
- Heyworth Jane
- Hillemanns Peter
- Hollestelle Antoinette
- Hopper John L.
- Hosgood H. Dean
- Howell Anthony
- Hu Chunling
- Hulick Peter J.
- Hunt Clare
- Hunter David J.
- HĂ„kansson Niclas
- Imyanitov Evgeny N.
- Ingster Olivier
- Isaacs Claudine
- Jacquot Caroline
- Jakimovska Milena
- Jakubowska Anna
- James Paul
- Janavicius Ramunas
- Janni Wolfgang
- Jenkins Mark
- John Esther M.
- Jones Michael E.
- Jung Audrey
- Kaaks Rudolf
- Karlan Beth Y.
- Kefford Rick
- Khusnutdinova Elza
- Kidd Alexa
- Kientz Caroline
- Kiiski Johanna I.
- Kirk Judy
- Kitahara Cari M.
- Koehler Jessica
- Kollias James
- Konstantopoulou Irene
- Koutros Stella
- Kraft Peter
- Lakhani Sunil
- Lallaoui Hakima
- Lambrechts Diether
- Lasheras Sandra Viz
- Lasset Christine
- Lazaro Conxi
- Le Marchand Loic
- Le Mentec Marine
- Lebrun Marine
- Lee C. Soon
- Legrand Clémentine
- Lejbkowicz Flavio
- Lejeune Sophie
- Leroux Christine Dominique
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lilyquist Jenna
- Lindeman Geoff
- Lipton Lara
- Lizard Sarab
- Lobb Liz
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- Loud Jennifer T.
- Lu Karen H.
- Luben Robert N.
- Lubinski Jan
- Lush Michael
- LĂ©one MĂ©lanie
- Mann Graham
- Mannermaa Arto
- Manoochehri Mehdi
- Manoukian Siranoush
- Manouvrier-Hanu Sylvie
- Margolin Sara
- Mari VĂ©ronique
- Marsh Deborah
- Martens John W. M.
- Maurer Tabea
- Mavroudis Dimitrios
- McGuffog Lesley
- McLachlan Sue Anne
- Mebirouk Noura
- Meindl Alfons
- Meiser Bettina
- Menon Usha
- Michailidou Kyriaki
- Miller Austin
- Milne Roger L.
- Molina-Gomes Denise
- Moncoutier Virginie
- Montagna Marco
- Morey Adrienne
- Mortemousque Isabelle
- Muller DaniĂšle
- Muranen Taru A.
- Nathanson Katherine L.
- Neuhausen Susan L.
- Nevanlinna Heli
- Newman William G.
- Nguyen-Dumont Tu
- Nielsen Finn Cilius
- Nielsen Sarah
- Nightingale Sophie
- Nikitina-Zake Liene
- Noguchi Tetsuro
- NoguĂšs Catherine
- Offit Kenneth
- Olah Edith
- Olopade Olufunmilayo I.
- Olshan Andrew F.
- Olson Janet E.
- Olsson HĂ„kan
- Osorio Ana
- Ottini Laura
- OâConnell Shona
- OâSullivan Sarah
- Pachter Nick
- Parsons Michael T.
- Pathmanathan Nirmala
- Patterson Briony
- Peissel Bernard
- Peixoto Ana
- Peterlongo Paolo
- Peto Julian
- Peysselon Magalie
- Pharoah Paul D. P.
- Phillips Kelly
- Pieper Ellen
- Plaseska-Karanfilska Dijana
- Pocza Timea
- Popovici Cornel
- Presneau Nadege
- Prieur Fabienne
- Pujana Miquel Angel
- Pujol Pascal
- Pujol Roser
- Punie Kevin
- Rack Brigitte
- Radice Paolo
- Ramus Susan J.
- Rantala Johanna
- Rashid Muhammad U.
- Rau-Murthy Rohini
- Rebischung Christine
- Remenieras Audrey
- Rennert Gad
- Rhenius Valerie
- Rickard Edwina
- Robinson Bridget
- Romero Atocha
- Rookus Matti A.
- Ross Eric A.
- Rossing Maria
- Rudaitis Vilius
- Ruebner Matthias
- Révillion Françoise
- Saleh Mona
- Salisbury Elizabeth
- Saloustros Emmanouil
- Sambrook Joe
- Sanden Kristin
- Santamariña Marta
- Saule Claire
- Saunders Christobel
- Saunus Jodi
- Scheuner Maren T.
- Schmidt Marjanka K.
- Schmutzler Rita K.
- Schneider Michael
- Scott Christopher
- Scott Clare
- Scott Elizabeth
- Scott Rodney
- Senter Leigha
- Sevenet Nicolas
- Sexton Adrienne
- Shah Mitul
- Sharma Priyanka
- Shelling Andrew
- Shu Xiao-Ou
- Simard Jacques
- Simpson Peter
- Singer Christian F.
- Sobol Hagay
- Sohn Christof
- Sokolowska Johanna
- Soubrier Florent
- Soucy Penny
- Southey Melissa C.
- Spigelman Allan
- Spinelli John J.
- Spurdle Amanda
- Steele Linda
- Stoppa-Lyonnet Dominique
- Surrallés Jordi
- Swerdlow Anthony J.
- Tapper William J.
- Taylor Jessica
- Teixeira Manuel R.
- Terry Mary Beth
- Thomassen Mads
- Thompson Jennifer
- Thorne Heather
- Thull Darcy L.
- Tischkowitz Marc
- Toland Amanda E.
- Tollenaar Rob A.E.M.
- Torres Diana
- Toulas Christine
- Trainer Alison
- Troester Melissa A.
- Truong ThérÚse
- Tucker Kathy
- Tung Nadine
- Uhrhammer Nancy
- Untch Michael
- Vachon Celine M.
- van Rensburg Elizabeth J.
- van Veen Elke M.
- Vaur Dominique
- Vega Ana
- Viel Alessandra
- Visvader Jane
- VĂ©nat-Bouvet Laurence
- Walker Logan
- Wang Qin
- Wappenschmidt Barbara
- Warcoin Mathilde
- Weitzel Jeffrey N.
- Wendt Camilla
- Wieme Greet
- Wilcken Nicholas
- Williams Rachael
- Winship Ingrid
- Wolk Alicja
- Yang Xiaohong R.
- Yip Desmond
- Young Mary Ann
- Zeps Nikolajs
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K.
- Publication venue
- npj Breast Cancer
- Publication date
- 01/01/2019
- Field of study
Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCMâ/â patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors
The Physics of the B Factories
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- Zheng Z.P.
- Zhilich V.
- Zhou P.
- Zhu R.Y.
- Zhu Y.S.
- Zhu Z.M.
- Zhulanov V.
- Ziegler T.
- Ziegler V.
- Zioulas G.
- Zisman M.
- Zito M.
- Zupan J.
- Zupanc A.
- Zwahlen N.
- Zyukova O.
- ZĂŒrcher D.
- Ćœivko T.
- Ćœontar D.
- Publication venue
- Springer Verlag
- Publication date
- 29/01/2015
- Field of study
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
- Author
- Aalfs C.M. (Cora)
- Adamo P. (Pio) d'
- Adank M.A. (Muriel)
- Adenis C. (Claude)
- Adlard J.W. (Julian)
- Agata S. (Simona)
- Ahearn T. (Thomas)
- AittomÀki K. (Kristiina)
- Andrieu N. (Nadine)
- Andrulis I.L. (Irene L.)
- Anton-Culver H. (Hoda)
- Antoniou A.C. (Antonis C.)
- Arndt V. (Volker)
- Arnold N. (Norbert)
- Aronson K.J. (Kristan J.)
- Arun B.K. (Banu)
- Augustinsson A. (Annelie)
- Ausems M.G.E.M. (Margreet)
- Azzollini J.
- Barjhoux L. (Laure)
- Barnes D. (Daniel)
- Barouk-Simonet E. (Emmanuelle)
- Barrowdale D. (Daniel)
- Barwell J. (Julian)
- Baurand A. (Amandine)
- Baxter R. (Robert)
- Baynes C. (Caroline)
- Becher H. (Heko)
- Beesley J. (Jonathan)
- Belotti M. (Muriel)
- Bermisheva M. (Marina)
- Bernstein L. (Leslie)
- Berthet P. (Pascaline)
- Bertolone G. (Geoffrey)
- Bertrand O. (Ophélie)
- BiaĆkowska K. (Katarzyna)
- Bignon Y.-J. (Yves-Jean)
- Birot A.-M. (Anne-Marie)
- Blok M.J. (Marinus J.)
- Blomqvist C. (Carl)
- Bock G.H. (Geertruida) de
- Bojesen S.E. (Stig)
- Bolla M.K. (Manjeet K.)
- Bonadona V. (Valérie)
- Bonnani B. (Bernardo)
- Bonnet F. (Françoise)
- Borg Ă . (Ă ke)
- Bourdon V. (Violaine)
- Boutry-Kryza N. (N.)
- Bowtell D. (David)
- Brady A. (A.)
- Brauch H. (Hiltrud)
- Brenner H. (Hermann)
- Bressac-de Paillerets B. (Brigitte)
- Brewer C. (Carole)
- Bronner M. (Myriam)
- Bubien V. (Virginie)
- Buecher B. (Bruno)
- Burwinkel B. (Barbara)
- Buys S.S. (Saundra S.)
- Bézieau S. (Stéphane)
- Caldes T. (Trinidad)
- Calender A. (Alain)
- Caligo M.A. (Maria A.)
- Campa D. (Daniele)
- Campbell I. (Ian)
- Caputo S. (Sandrine)
- Caron O. (Olivier)
- Carpenter T.A. (Adrian)
- Carter B.D. (Brian D.)
- Castelao J.E. (Jose )
- Castera L. (Laurent)
- Chang-Claude J. (Jenny)
- Chanock S.J. (Stephen J.)
- Chenevix-Trench G. (Georgia)
- Chiesa J. (Jean)
- Chung W.K. (Wendy K.)
- Claes K.B.M. (Kathleen B. M.)
- Clarke C. (Christine)
- Clarke C.L. (Christine L.)
- Coignard J. (Juliette)
- Colas C. (Chrystelle)
- Collonge-Rame M.-A.
- Collée J.M. (J. Margriet)
- Collée J.M. (J. Margriet)
- Conroy D.M. (Don M.)
- Cook J. (Jackie)
- Coron F. (Fanny)
- Couch F.J. (Fergus)
- Coulet F. (Florence)
- Coupier I. (Isabelle)
- Cronenburg T.C.T.E.F. van
- Czene K. (Kamila)
- Daly M.B. (Mary B.)
- Damette A. (Alexandre)
- Damiola F. (Francesca)
- Davidson R. (Rosemarie)
- Davis A. (Alison)
- De Fazio A. (Anna)
- de Pauw A. (Antoine)
- Deb S. (Sid)
- Delnatte C. (Capucine)
- Dennis J. (Joe)
- Deurzen C.H.M. (Carolien) van
- Devilee P. (Peter)
- Diez O. (Orland)
- Ding Y.C. (Yuan Chun)
- Domchek S.M. (Susan)
- Donaldson A. (Alan)
- Dreyfus H. (HĂ©lĂšne)
- Dumont A. (Aurélie)
- Dunning A.M. (Alison M.)
- Dupré A. (Anaïs)
- Dwek M. (Miriam)
- Dörk T. (Thilo)
- Eason J. (Jacqueline)
- Eccles D. (Diana)
- Eccles D.M. (Diana M.)
- Eeles R. (Rosalind)
- Eliassen A.H. (A. Heather)
- Engel C. (Christoph)
- Eriksson M. (Mikael)
- Evans D.G. (D. Gareth)
- Faivre L. (Laurence)
- Fasching P.A. (Peter)
- Feillel V. (Viviane)
- Ferrer S.F.
- Floris O.A.M.
- Flyger H. (Henrik)
- Foo C. (Claire)
- Fostira F. (Florentia)
- Fourme E. (Emmanuelle)
- Fox S.B. (Stephen)
- Friedman E. (Eitan)
- Fritschi L. (Lin)
- Frost D. (Debra)
- Gago-Dominguez M. (Manuela)
- Gapstur S.M. (Susan M.)
- Garber J. (Judy)
- Garcia-Barberan V. (Vanesa)
- GarcĂa-Closas M. (Montserrat)
- GarcĂa-SĂĄenz J.A. (JosĂ© A.)
- Gaudet M.M. (Mia M.)
- Gauthier-Villars M. (Marion)
- Gayther S.A. (Simon)
- Gehrig A. (Andrea)
- Georgoulias V. (Vassilios)
- Gesta P. (Paul)
- Giles G.G. (Graham G.)
- Gille J.J.P. (J. J.P.)
- Giraud S. (Sophie)
- Gladieff L. (Laurence)
- Godwin A.K. (Andrew K.)
- Goldberg M.S. (Mark)
- Golmard L. (Lisa)
- GonzĂĄlez-Neira A. (Anna)
- Graham D. (Dinny)
- Greene M.H. (Mark H.)
- Gregory H. (Helen)
- Guillaud-Bataille M. (Marine)
- Guimbaud R. (Rosine)
- Guénel P. (Pascal)
- GĂłmez Garcia E.B. (Encarna B.)
- Haeberle L. (Lothar)
- Hahnen E. (Eric)
- Haiman C.A. (Christopher)
- Hall P. (Per)
- Hamann U. (Ute)
- Harrington P.A. (Patricia A.)
- Hart S.N. (Steven N.)
- He W. (Wei)
- Henderson A. (Alex)
- Hogervorst F.B.L. (Frans B. L.)
- Hollestelle A. (Antoinette)
- Hooning M.J. (Maartje)
- Hopper J.L. (John)
- Horcasitas D.J. (Darling J.)
- Houdayer C. (Claude)
- Hout A.H. (Annemarie) van der
- Hulick P.J. (Peter J.)
- Hunter D.J. (David J.)
- HĂ„kansson N. (Niclas)
- Imyanitov E.N. (Evgeny)
- Ingster O. (Olivier)
- Izatt L. (Louise)
- Jacquot C. (Caroline)
- Jager A. (Agnes)
- Jakubowska A. (Anna)
- James M. (Margaret)
- Jensen U.B. (Uffe Birk)
- John E.M. (Esther)
- Jones M.E. (Michael E.)
- Joseph V. (Vijai)
- Kaaks R. (Rudolf)
- Kapoor P.M. (Pooja Middha)
- Karlan B.Y. (Beth)
- Keeman R. (Renske)
- Kennedy M.J. (M. John)
- Kets C.M. (Marleen)
- Khusnutdinova E.K. (Elza)
- Kientz C. (Caroline)
- Kiiski J.I. (Johanna I.)
- Kirk J. (Judy)
- Ko Y.-D. (Yon-Dschun)
- Kolk L.E. (Lizet) van der
- Kosma V.-M. (Veli-Matti)
- Kraft P. (Peter)
- Kurian A.W. (Allison W.)
- Laitman Y. (Yael)
- Lallaoui H. (Hakima)
- Lalloo F. (Fiona)
- Lambrechts D. (Diether)
- Lange J.L. (J.) de
- Lasset C. (Christine)
- Le Marchand L. (Loic)
- Le Mentec M. (Marine)
- Lebrun M. (Marine)
- Leeuwen F.E. (Flora) van
- Leroux D. (Dominique)
- Leslie G. (Goska)
- Lester J. (Jenny)
- Lesueur F. (Fabienne)
- Lindeman G.J. (Geoffrey)
- Lindstrom T. (Tricia)
- Lizard S. (Sarab)
- Longy M. (Michel)
- Lopez-FernĂĄndez A. (Adria)
- Loud J.T. (Jennifer T.)
- Luccarini C. (Craig)
- Lush M. (Michael)
- LĂ©one M. (MĂ©lanie)
- Mannermaa A. (Arto)
- Manoukian S. (Siranoush)
- Margolin S. (Sara)
- Mari V. (VĂ©ronique)
- Marsh D. (Deborah)
- Martens J.W.M. (John)
- Mazoyer S. (Sylvie)
- McCann E. (Emma)
- McGuffog L. (Lesley)
- Mebirouk N. (Noura)
- Meijers-Heijboer E.J. (Hanne)
- Meindl A. (Alfons)
- Mensenkamp A.R. (Arjen R.)
- Miedzybrodzka Z. (Zosia)
- Miller A. (Austin)
- Milne R.L. (Roger L.)
- Milne R.L. (Roger)
- Molina-Gomes D. (Denise)
- Moncoutier V. (Virginie)
- Montagna M. (Marco)
- Morrison P.J. (Patrick J.)
- Mortemousque I. (Isabelle)
- Mourits M.J. (Marjan)
- Muller D.W. (DaniĂšle)
- Murray A. (Alexandra)
- Nathanson K.L. (Katherine)
- Nevanlinna H. (Heli)
- Nielsen F.C. (Finn C.)
- Noguchi T. (Tetsuro)
- Noguchi T. (Tetsuro)
- Nogues C. (Catherine)
- Obdeijn A.I.M. (Inge-Marie)
- Offit K. (Kenneth)
- Olopade O.I. (Olofunmilayo)
- Olson J.E. (Janet)
- Olsson H. (HĂ„kan)
- Ong K.-R. (Kai-ren)
- Oosterwijk J.C. (Jan)
- Osorio A. (Ana)
- Ottini L. (Laura)
- Ouweland A.M.W. (Ans) van den
- Overbeek L.I.H. (Lucy)
- OâBrien K.M. (Katie M.)
- OâMara T.A. (Tracy A.)
- Park S.K. (Sue K.)
- Park-Simon T.-W. (Tjoung-Won)
- Parsons M. (Marilyn)
- Pathmanathan N. (Nirmala)
- Pedersen I.S. (Inge Sokilde)
- Peshkin B. (Beth)
- Peterlongo P. (Paolo)
- Peto J. (Julian)
- Peysselon M. (Magalie)
- Pharoah P.D.P. (Paul)
- Phillips K.-A. (Kelly-Anne)
- Pol C. (Carmen) van der
- Polley E.C. (Eric C.)
- Popovici C. (Cornel)
- Poppe B. (Bruce)
- Porteous M.E. (Mary)
- Presneau N. (Nadege)
- Price M. (Melanie)
- Prieur F. (Fabienne)
- Pujana M.A. (Miquel Angel)
- Pujol P. (Pascal)
- Punie K. (Kevin)
- Radice P. (Paolo)
- Radice P. (Paolo)
- Rantala J. (Johanna)
- Rashid M.U. (Muhammad)
- Rebischung C. (Christine)
- Remenieras A. (Audrey)
- Rennert G. (Gad)
- Rennert H.S. (Hedy S.)
- Robson M. (Mark)
- Rogers M.T. (Mark)
- Romero A. (Atocha)
- Rookus M.A. (Matti)
- Rossing M. (Maria)
- Russell N.S. (Nicola)
- Révillion F. (Françoise)
- Sachchithananthan M. (Mythily)
- Saloustros E. (Emmanouil)
- Sandler D.P. (Dale P.)
- Santella R.M. (Regina)
- Santos Silva I. (Isabel) dos
- Saule C. (Claire)
- Scheuner M.T. (Maren T.)
- Schmidt G. (Gunnar)
- Schmidt M.K. (Marjanka K.)
- Schmutzler R.K. (Rita)
- Scott C. (Christopher)
- Scott R.J. (Rodney)
- Sevenet N. (Nicolas)
- Seynaeve C.M. (Caroline)
- Sharma P. (Priyanka)
- Side L.E. (Lucy E.)
- Siesling S. (Sabine)
- Simard J. (Jacques)
- Simpson P. (Peter)
- Sinilnikova O. (Olga)
- Snape K. (Katie)
- Sobol H. (Hagay)
- Sokolowska J. (Johanna)
- Soubrier F. (Florent)
- Soucy P. (Penny)
- Southey M.C. (Melissa C.)
- Southey M.C. (Melissa)
- Spinelli J.J. (John J.)
- Spurdle A. (Amanda)
- Steinsnyder Z. (Zoe)
- Stone J. (Jennifer)
- Stoppa-Lyonnet D. (Dominique)
- Swerdlow A.J. (Anthony )
- Tamimi R. (Rulla)
- Tapper W.J. (William J.)
- Tassell M. (Margaret)
- Taylor J.A. (Jack A.)
- Terry M.B. (Mary Beth)
- Teulé A. (Alex)
- Thomassen M. (Mads)
- Thull D.L. (Darcy L.)
- Tischkowitz M. (Marc)
- Toland A.E. (Amanda)
- Torres D. (Diana)
- Toulas C. (Christine)
- Trainer A.H. (Alison H.)
- Truong T. (ThérÚse)
- Tung N. (Nadine)
- Tyrer J.P. (Jonathan P.)
- Uhrhammer N. (Nancy)
- Vachon C. (Celine)
- van Asperen C.J. (Christi J.)
- van der Luijt R.B. (Rob B.)
- Vaur D. (Dominique)
- Vega A. (Ana)
- Verny-Pierre C. (Carole)
- VĂ©nat-Bouvet L. (Laurence)
- Walker L. (Lisa)
- Wang Q. (Qin)
- Wappenschmidt B. (Barbara)
- Warcoin M. (Mathilde)
- Webb P. (Penny)
- Weinberg C.R. (Clarice R.)
- Weitzel J.N. (Jeffrey)
- Wendt C. (Camilla)
- Wijnands R. (R.)
- Wijnen J.T. (Juul)
- Wolk K. (Kerstin)
- Yadav S. (Siddhartha)
- Yang X.R. (Xiaohong R.)
- Yannoukakos D. (Drakoulis)
- Yip D. (Desmond)
- Zheng W. (Wei)
- Ziogas A. (Argyrios)
- Zorn K.K. (Kristin K.)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 17/02/2021
- Field of study
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10â8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- Author
- Adenis Claude
- AittomÀki Kristiina
- Andrulis Irene L.
- Anton-Culver Hoda
- Antoniou Antonis C.
- Arndt Volker
- Arun Banu K.
- Arver Brita
- Ausems M. G E M
- Bandera Elisa V.
- Barile Monica
- Barjhoux Laure
- Barkardottir Rosa B.
- Barouk-Simonet Emmanuelle
- Barrowdale Daniel
- Barwell Julian
- Baurand Amandine
- Beckmann Matthias W.
- Beesley Jonathan
- Belotti Muriel
- Benitez Javier
- Berchuck Andrew
- Berthet Pascaline
- Bertolone Geoffrey
- Bignon Yves Jean
- Birot Anne Marie
- Bisogna Maria
- Bjorge Line
- Blomqvist Carl
- Blot William
- Bogdanova Natalia
- Bojesen Anders
- Bojesen Stig E.
- Bolla Manjeet K.
- Bonadona Valérie
- Bonanni Bernardo
- Bonnet Françoise
- Bourdon Violaine
- Boutry-Kryza Nadia
- Bowtell David
- Brady Angela
- Brauch Hiltrud
- Brennan Paul
- Brenner Hermann
- Bressac-De-Paillerets Brigitte
- Bronner Myriam
- Bruinsma Fiona
- Brunet Joan
- Bubien Virginie
- Buecher Bruno
- Buhari Shaik Ahmad
- Burwinkel Barbara
- Butzow Ralf
- Buys Saundra S.
- Bézieau Stéphane
- BĂžrresen-Dale Anne Lise
- Cai Qiuyin
- Caldes Trinidad
- Calender Alain
- Campbell Ian
- Canniotto Rikki
- Caron Olivier
- Castera Laurent
- Chang-Claude Jenny
- Chenevix-Trench Georgia
- Chiquette Jocelyne
- Choi Ji Yeob
- Claes Kathleen B M
- Colas Chrystelle
- Collonge-Rame Marie AgnĂšs
- Collée J. M.
- Cook Jackie
- Cook Linda S.
- Coron Fanny
- Couch Fergus J.
- Coulet Florence
- Coupier Isabelle
- Cox Angela
- Cramer Daniel W.
- Cross Simon S.
- Cybulski Cezary
- Czene Kamila
- Daly Mary B.
- Damette Alexandre
- Damiola Francesca
- Dansonka-Mieszkowska Agnieszka
- Darabi Hatef
- De Bock G. H.
- De La Hoya Miguel
- De Lange J. L.
- De Leeneer Kim
- De Pauw Antoine
- DeFazio Anna
- Delgado Melissa K.
- Delnatte Capucine
- Dennis Joe
- Devilee Peter
- Diez Orland
- Doherty Jennifer A.
- Domchek Susan M.
- Donaldson Alan
- Dorfling Cecilia M.
- Dreyfus HĂ©lĂšne
- Dumont Martine
- Dunning Alison M.
- Dörk Thilo
- Eason Jacqueline
- Easton Douglas F.
- Edwards Stacey L.
- Ehrencrona Hans
- Ejlertsen Bent
- Elan Camille
- Ellis Steve
- Engel Christoph
- Evans D. Gareth
- Faivre Laurence
- Fasching Peter A.
- Feillel Viviane
- Feliubadalo Lidia
- Ferrer Sandra Fert
- Figueroa Jonine
- Flesch-Janys Dieter
- Fletcher Olivia
- Flyger Henrik
- Foo Claire
- Foretova Lenka
- Fostira Florentia
- Foulkes William D.
- Fourme Emmanuelle
- Fournier Joëlle
- Fox Stephen
- Freedman Matthew L.
- French Juliet D.
- Fricker Jean Pierre
- Fridley Brooke L.
- Friedman Eitan
- Frost Debra
- Gambino Gaetana
- Ganz Patricia A.
- Garber Judy
- GarcĂa-Closas Montserrat
- Gauthier-Villars Marion
- Gayther Simon A.
- Gentry-Maharaj Aleksandra
- Ghoussaini Maya
- Giles Graham G.
- Giraud Sophie
- Gladieff Laurence
- Glasspool Rosalind
- Godwin Andrew K.
- Goldberg Mark S.
- Goldgar David E.
- Golmard Lisa
- GonzĂĄlez-Neira Anna
- Goode Ellen L.
- Goodman Marc T.
- Greene Mark H.
- Gregory Helen
- Gronwald Jacek
- Guillaud-Bataille Marine
- Guimbaud Rosine
- Guénel Pascal
- GĂłmez-Garcia E. B.
- Haiman Christopher A.
- Hall Per
- Hallberg Emily
- Hamann Ute
- Hansen Thomas V O
- Harrington Patricia A.
- Hartman Mikael
- Hassan Norhashimah
- Healey Sue
- Heitz Florian
- Henderson Alex
- Herzog Josef
- Hogervorst Frans B L
- Hollestelle Antoinette
- Hooning M. J.
- Hopper John L.
- Houdayer Claude
- Hulick Peter J.
- Huzarski Tomasz
- HĂžgdall Claus K.
- HĂžgdall Estrid
- Imyanitov Evgeny N.
- Isaacs Claudine
- Ito Hidemi
- Jacquot Caroline
- Jakubowska Anna
- Janavicius Ramunas
- Jensen Allan
- John Esther M.
- Johnson Nichola
- Kabisch Maria
- Kang Daehee
- Kapuscinski Miroslav
- Kar Siddhartha
- Karlan Beth Y.
- Kennedy M. John
- Kets C. M.
- Khan Sofia
- Khanna Kum Kum
- Kiemeney Lambertus A.
- Kientz Caroline
- Kirk Judy
- Kjaer Susanne Kruger
- Knight Julia A.
- Konstantopoulou Irene
- Kosma Veli Matti
- Kristensen Vessela
- Kuchenbaeker Karoline
- Kupryjanczyk Jolanta
- Kwong Ava
- Laitman Yael
- Lalloo Fiona
- Lambrechts Diether
- Lasset Christine
- Laurent Maïté
- Lawrenson Kate
- Le Marchand Loic
- Le Nhu
- Lebrun Marine
- Lee Eunjung
- Lee Janet M.
- Leroux Dominique
- Lester Jenny
- Lesueur Fabienne
- Levine Douglas A.
- Li Jingmei
- Li Qiyuan
- Lindblom Annika
- Lindeman Geoff
- Lizard Sarab
- Long Jirong
- Longy Michel
- Lophatananon Artitaya
- Loud Jennifer T.
- Lu Karen
- Lubinski Jan
- LĂ©one MĂ©lanie
- Mannermaa Arto
- Manoukian Siranoush
- Margolin Sara
- Mari VĂ©ronique
- Marme Frederik
- Massuger Leon F A G
- Matsuo Keitaro
- Mazoyer Sylvie
- McCann Emma
- McCue Karen
- McGuffog Lesley
- McLean Catriona
- McNeish Iain
- Mebirouk Noura
- Meijers-Heijboer H. E J
- Meindl Alfons
- Menon Usha
- Mensenkamp Arjen R.
- Michailidou Kyriaki
- Miedzybrodzka Zosia
- Milne Roger L.
- Moncoutier Virginie
- Montagna Marco
- Monteiro Alvaro N.
- Morrison Patrick J.
- Mortemousque Isabelle
- Mourits M. J.
- Moysich Kirsten B.
- Muir Kenneth
- Muller DaniĂšle
- Mulligan Anna Marie
- Murray Alex
- Nathanson Katherine L.
- Ness Roberta B.
- Neuhausen Susan L.
- Nevanlinna Heli
- Noguchi Tetsuro
- Nord Silje
- Nussbaum Robert L.
- O'Malley David
- Obdeijn I. M.
- Odunsi Kunle
- Offit Kenneth
- Olah Edith
- Olopade Olufunmilayo I.
- Olson Janet E.
- Olswold Curtis
- Oosterwijk J. C.
- Orlow Irene
- Orr Nick
- Osorio Ana
- Overbeek L. I H
- Park Sue Kyung
- Pearce Celeste L.
- Pejovic Tanja
- Peterlongo Paolo
- Peyrat Jean Philippe
- Peysselon Magalie
- Pfeiler Georg
- Pharoah Paul D.
- Phelan Catherine M.
- Poole Elizabeth M.
- Porteous Mary E.
- Price Melanie
- Prieur Fabienne
- Pujol Pascal
- PylkÀs Katri
- Radice Paolo
- Ramus Susan J.
- Rantala Johanna
- Rashid Muhammad Usman
- Rebischung Christine
- Remenieras Audrey
- Rennert Gad
- Rhenius Valerie
- Rhiem Kerstin
- Risch Harvey A.
- Rodriguez Gus
- Rogers Mark T.
- Rookus M. A.
- Rossing Mary Anne
- Rouleau Etienne
- Rudolph Anja
- Russell N. S.
- Révillion Françoise
- Salvesen Helga B.
- Sangrajrang Suleeporn
- Saule Claire
- Sawyer Elinor J.
- Schildkraut Joellen M.
- Schmidt M. K.
- Schmidt Marjanka K.
- Schmutzler Rita K.
- Sellers Thomas A.
- Sevenet Nicolas
- Seynaeve C.
- Seynaeve Caroline
- Shah Mitul
- Shen Chen Yang
- Shu Xiao Ou
- Side Lucy E.
- Sieh Weiva
- Siesling S.
- Simard Jacques
- Singer Christian F.
- Sinilnikova Olga M.
- Slager Susan
- Snape Katie
- Sobol Hagay
- Sokolowska Johanna
- Song Honglin
- Soubrier Florent
- Soucy Penny
- Southey Melissa C.
- Stenmark-Askmalm Marie
- Stoppa-Lyonnet Dominique
- Sutter Christian
- Swerdlow Anthony
- Tchatchou Sandrine
- Teixeira Manuel R.
- Teo Soo H.
- Terry Kathryn L.
- Terry Mary Beth
- Thomassen Mads
- Tibiletti Maria Grazia
- Tihomirova Laima
- Tognazzo Silvia
- Toland Amanda Ewart
- Tollenaar R. A E M
- Tomlinson Ian
- Torres Diana
- Toulas Christine
- Truong ThérÚse
- Tseng Chiu Chen
- Tung Nadine
- Tworoger Shelley S.
- Tyrer Jonathan
- Uhrhammer Nancy
- Vachon Celine
- Van Asperen C. J.
- Van Cronenburg T. C T E F
- Van Den Ouweland Ans M W
- Van Der Kolk L. E.
- Van Der Pol C. C.
- Van Deurzen C. H M
- Van Doorn Helena C.
- Van Leeuwen F. E.
- Van Os T. A M
- Van Rensburg Elizabeth J.
- Van't Veer Laura J.
- Vanderstichele Adriaan
- Vasen H. F.
- Vaur Dominique
- Vergote Ignace
- Verloop J.
- Verny-Pierre Carole
- Vijai Joseph
- VĂ©nat-Bouvet Laurence
- Waisfisz Q.
- Walker Lisa
- Wang Qin
- Wang-Gohrke Shan
- Warcoin Mathilde
- Webb Penny
- Weitzel Jeffrey N.
- Wentzensen Nicolas
- Whittemore Alice S.
- Wijnands R.
- Wildiers Hans
- Winqvist Robert
- Wu Anna H.
- Yannoukakos Drakoulis
- Yoon Sook Yee
- Yu Jyh Cherng
- Zheng Wei
- Zheng Ying
- Publication venue
- Publication date
- 01/01/2016
- Field of study
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P = 9.2 x 10(-20)), ER-negative BC (P = 1.1 x 10(-13)), BRCA1-associated BC (P = 7.7 x 10(-16)) and triple negative BC (P-diff = 2 x 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P = 2 x 10(-3)) and ABHD8 (PPeer reviewe
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
- Author
- Aalfs Cora M.
- Adank Muriel A.
- Adank Muriel A.
- Adenis Claude
- Adlard Julian
- Agata Simona
- Ahearn Thomas
- AittomÀki Kristiina
- Andrieu Nadine
- Andrulis Irene L.
- Anton-Culver Hoda
- Antoniou Antonis C.
- Arndt Volker
- Arnold Norbert
- Aronson Kristan J.
- Arun Banu K.
- Augustinsson Annelie
- Ausems Margreet G. E. M.
- Azzollini Jacopo
- Barjhoux Laure
- Barnes Daniel R.
- Barouk-Simonet Emmanuelle
- Barrowdale Daniel
- Barwell Julian
- Baurand Amandine
- Baxter Robert
- Baynes Caroline
- Becher Heko
- Beesley Jonathan
- Belotti Muriel
- Bermisheva Marina
- Bernstein Leslie
- Berthet Pascaline
- Bertolone Geoffrey
- Bertrand Ophélie
- BiaĆkowska Katarzyna
- Bignon Yves- Jean
- Birot Anne-Marie
- Blok Marinus J.
- Blomqvist Carl
- Bojesen Stig E.
- Bolla Manjeet K.
- Bonadona Valérie
- Bonanni Bernardo
- Bonnet Françoise
- Borg Ake
- Bourdon Violaine
- Boutry-Kryza Nadia
- Bowtell David
- Brady Angela
- Brauch Hiltrud
- Brenner Hermann
- Bressac-de-Paillerets Brigitte
- Brewer Carole
- Bronner Myriam
- Bubien Virginie
- Buecher Bruno
- Burwinkel Barbara
- Buys Saundra S.
- Bézieau Stéphane
- Caldés Trinidad
- Calender Alain
- Caligo Maria A.
- Campa Daniele
- Campbell Ian
- Caputo Sandrine
- Caron Olivier
- Carpenter Jane
- Carter Brian D.
- Castelao Jose E.
- Castera Laurent
- Chang-Claude Jenny
- Chanock Stephen J.
- Chenevix-Trench Georgia
- Chiesa Jean
- Chung Wendy K.
- Claes Kathleen B. M.
- Clarke Christine
- Clarke Christine L.
- Coignard Juliette
- Colas Chrystelle
- Collonge-Rame Marie-AgnĂšs
- Collée J. Margriet
- Collée J. Margriet
- Conroy Don M.
- Cook Jackie
- Coron Fanny
- Couch Fergus J.
- Coulet Florence
- Coupier Isabelle
- Czene Kamila
- Daly Mary B.
- Damette Alexandre
- Damiola Francesca
- Davidson Rosemarie
- Davis Alison
- de Bock G. H.
- de Fazio Anna
- de Lange Judith L.
- de Pauw Antoine
- Deb Sid
- Delnatte Capucine
- Dennis Joe
- Devilee Peter
- Diez Orland
- Ding Yuan Chun
- Domchek Susan M.
- Donaldson Alan
- dos-Santos-Silva Isabel
- Dreyfus H. lĂšne
- Dumont Aurélie
- Dunning Alison M.
- Dupré Anaïs
- Dwek Miriam
- Dörk Thilo
- Eason Jacqueline
- Easton Douglas F.
- Eccles Diana
- Eccles Diana M.
- Eeles Rosalind A.
- Eliassen A. Heather
- Engel Christoph
- Eriksson Mikael
- Evans D. Gareth
- Faivre Laurence
- Fasching Peter A.
- Feillel Viviane
- Ferrer Sandra Fert
- Flyger Henrik
- Foo Claire
- Fostira Florentia
- Fourme Emmanuelle
- Fox Stephen
- Friedman Eitan
- Fritschi Lin
- Frost Debra
- Gago-Dominguez Manuela
- Gapstur Susan M.
- Garber Judy
- Garcia-Barberan Vanesa
- GarcĂa-Closas Montserrat
- GarcĂa-SĂĄenz JosĂ© A.
- Gaudet Mia M.
- Gauthier-Villars Marion
- Gayther Simon A.
- Gehrig Andrea
- Georgoulias Vassilios
- Gesta Paul
- Giles Graham G.
- Gille J. J. P.
- Giraud Sophie
- Gladieff Laurence
- Godwin Andrew K.
- Goldberg Mark S.
- Goldgar David E.
- Golmard Lisa
- GonzĂĄlez-Neira Anna
- Graham Dinny
- Greene Mark H.
- Gregory Helen
- Guillaud-Bataille Marine
- Guimbaud Rosine
- Guénel Pascal
- GĂłmez Garcia Encarna B.
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A.
- Hall Per
- Hamann Ute
- Harrington Patricia A.
- Hart Steven N.
- He Wei
- Henderson Alex
- Hogervorst Frans B. L.
- Hollestelle Antoinette
- Hooning Maartje J.
- Hopper John L.
- Horcasitas Darling J.
- Houdayer Claude
- Hulick Peter J.
- Hunter David J.
- HĂ„kansson Niclas
- Imyanitov Evgeny N.
- Ingster Olivier
- Izatt Louise
- Jacquot Caroline
- Jager Agnes
- Jakubowska Anna
- James Paul A.
- Jensen Uffe Birk
- John Esther M.
- Jones Michael E.
- Kaaks Rudolf
- Kapoor Pooja Middha
- Karlan Beth Y.
- Keeman Renske
- Kennedy M. John
- Kets Carolien M.
- Khusnutdinova Elza
- Kientz Caroline
- Kiiski Johanna I.
- Kirk Judy
- Ko Yon-Dschun
- Kosma Veli-Matti
- Kraft Peter
- Kurian Allison W.
- Laitman Yael
- Lallaoui Hakima
- Lalloo Fiona
- Lambrechts Diether
- Lasset Christine
- le Marchand Loic
- le Mentec Marine
- Lebrun Marine
- Leroux Dominique
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lindeman Geoff
- Lindstrom Tricia
- Lizard Sarab
- Longy Michel
- Lopez-FernĂĄndez Adria
- Loud Jennifer T.
- Luccarini Craig
- Lush Michael
- LĂ©one M. lanie
- Mannermaa Arto
- Manoukian Siranoush
- Margolin Sara
- Mari V. ronique
- Marsh Deborah
- Martens John W. M.
- Mazoyer Sylvie
- McCann Emma
- McGuffog Lesley
- Mebirouk Noura
- Meijers-Heijboer Hanne E. J.
- Meindl Alfons
- Mensenkamp Arjen R.
- Miedzybrodzka Zosia
- Miller Austin
- Milne Roger
- Milne Roger L.
- Molina-Gomes Denise
- Moncoutier Virginie
- Montagna Marco
- Morrison Patrick J.
- Mortemousque Isabelle
- Mourits Marian J. E.
- Muller DaniĂšle
- Murray Alex
- Nathanson Katherine L.
- Neuhausen Susan L.
- Nevanlinna Heli
- Nielsen Finn C.
- Noguchi Tetsuro
- Noguchi Tetsuro
- NoguĂšs Catherine
- Obdeijn Inge M.
- Offit Kenneth
- Olopade Olufunmilayo I.
- Olson Janet E.
- Olsson H. kan
- Ong Kai-ren
- Oosterwijk Jan C.
- Osorio Ana
- Ottini Laura
- Overbeek Lucy
- OâBrien Katie M.
- OâMara Tracy A.
- Park Sue K.
- Park-Simon Tjoung-Won
- Parsons Michael T.
- Pathmanathan Nirmala
- Pedersen Inge Sokilde
- Peshkin Beth
- Peterlongo Paolo
- Peto Julian
- Peysselon Magalie
- Pharoah Paul D. P.
- Phillips Kelly-Anne
- Polley Eric C.
- Popovici Cornel
- Poppe Bruce
- Porteous Mary E.
- Presneau Nadege
- Price Melanie
- Prieur Fabienne
- Pujana Miquel Angel
- Pujol Pascal
- Punie Kevin
- Radice Paolo
- Rantala Johanna
- Rashid Muhammad U.
- Rebischung Christine
- Remenieras Audrey
- Rennert Gad
- Rennert Hedy S.
- Robson Mark
- Rogers Mark T.
- Romero Atocha
- Rookus Matti A.
- Rossing Maria
- Russell Nicola S.
- Révillion Françoise
- Sachchithananthan Mythily
- Saloustros Emmanouil
- Sandler Dale P.
- Santella Regina
- Saule Claire
- Scheuner Maren T.
- Schmidt Gunnar
- Schmidt Marjanka K.
- Schmutzler Rita K.
- Scott Christopher
- Scott Rodney
- Sevenet Nicolas
- Seynaeve Caroline
- Sharma Priyanka
- Side Lucy E.
- Siesling Sabine
- Simard Jacques
- Simpson Peter
- Sinilnikova Olga
- Snape Katie
- Sobol Hagay
- Sokolowska Johanna
- Soubrier Florent
- Soucy Penny
- Southey Melissa
- Southey Melissa C.
- Spinelli John J.
- Spurdle Amanda
- Steinsnyder Zoe
- Stone Jennifer
- Stoppa-Lyonnet Dominique
- Swerdlow Anthony
- Tamimi Rulla M.
- Tapper William J.
- Tassell Margaret
- Taylor Jack A.
- Terry Mary Beth
- Teulé Alex
- Thomassen Mads
- Thull Darcy L.
- Tischkowitz Marc
- Toland Amanda E.
- Torres Diana
- Toulas Christine
- Trainer Alison H.
- Truong ThérÚse
- Tung Nadine
- Tyrer Jonathan P.
- Uhrhammer Nancy
- Vachon Celine M.
- van Asperen Christi J.
- van Cronenburg T. C. T. E. F.
- van den Ouweland Ans M. W.
- van der Hout Annemieke H.
- van der Kolk Lizet E.
- van der Luijt Rob B.
- van der Pol Carmen C.
- van Deurzen Carolien H. M.
- van Leeuwen Flora E.
- Vaur Dominique
- Vega Ana
- Verny-Pierre Carole
- Vijai Joseph
- VĂ©nat-Bouvet Laurence
- Walker Lisa
- Wang Qin
- Wappenschmidt Barbara
- Warcoin Mathilde
- Webb Penny
- Weinberg Clarice R.
- Weitzel Jeffrey N.
- Wendt Camilla
- Wijnands R.
- Wijnen Juul T.
- Wolk Alicja
- Yadav Siddhartha
- Yang Xiaohong R.
- Yannoukakos Drakoulis
- Yip Desmond
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K.
- Publication venue
- Nature Communications
- Publication date
- 01/02/2021
- Field of study
Abstract: Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10â8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
- Author
- Ahmed Munaza
- Aitken Stuart
- Aitman Timothy
- Akawi Nadia
- Al Turki Saeed
- Alachkar Hana
- Ali Sonia
- Allen Hana Lango
- Allen Louise
- Allsup David
- Alvi Mohsan
- Ambegaonkar Gautum
- Ambridge Kirsty
- Anderson Carl
- Anderson Julie
- Anjum Uruj
- Anney Richard
- Antony Dinu
- Antrobus Richard
- Archer Hayley
- Armstrong Ruth
- Armstrong Ruth
- Arno Gavin
- Artigas Maria Soler
- Arumugakani Gururaj
- Ashford Sofie
- Astle William
- Attwood Antony
- Austin Steve
- Awada Jana
- Ayub Muhammad
- Bacchelli Chiara
- Bakchoul Tamam
- Balasubramaniam Senduran
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Bariana Tadbir K.
- Barnicoat Angela
- Barrett Daniel M.
- Barrett Jeffrey C.
- Barrett Jeffrey C.
- Barroso InĂȘs
- Batstone Paul
- Baty David
- Baxendale Helen
- Bayzetinova Tanya
- Beales Phil
- Bennett Chris
- Bennett David
- Bentham Jamie
- Berg Jonathan
- Bernhard Birgitta
- Bethune Claire
- Bevan A. Paul
- Bhattacharya Shoumo
- Bibi Shahnaz
- Birney Ewan
- Bitner-Glindzicz Maria
- Bitner-Glindzicz Maria
- Blackwood Douglas
- Blair Edward
- Bleda Marta
- Blyth Moira
- Bobrow Martin
- Bochukova Elena
- Boggard Harm
- Bohanna David
- Bolton Patrick
- Bolton-Maggs Paula
- Booth Claire
- Bounds Rebecca
- Bourdon Louise
- Bourn David
- Boustred Chris
- Bradley John R.
- Bradley Lisa
- Brady Angela
- Brady Angie
- Breen Gerome
- Brent Simon
- Brewer Carole
- Brown Matthew
- Browning Michael
- Brunstrom Kate
- Bryant Emily
- Bryson Christine
- Bunyan David J.
- Burn John
- Burns Siobhan
- Calissano Mattia
- Calleja Paul
- Canham Natalie
- Canham Natalie
- Carmichael Jenny
- Carss Keren
- Carss Keren
- Carss Keren J.
- Carvill Gemma L.
- Castle Bruce
- Caulfield Mark
- Chalmers Elizabeth
- Chandler Kate
- Chandra Anita
- Chatterjee Krishna
- Chatzimichali Elena
- Chen Lu
- Chinnery Patrick
- Chitre Manali
- Church Colin
- Ciampi Antonio
- Cilliers Deirdre
- Cirak Sebhattin
- Clapham Peter
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clement Emma
- Clement Gail
- Clements-Brod Naomi
- Clowes Virginia
- Clowes Virginia
- Coates Andrea
- Coates Guy
- Coghlan Gerry
- Cole Trevor
- Colgiu Irina
- Collier David
- Collins Amanda
- Collins Peter
- Collinson Morag N.
- Connell Fiona
- Cooper Nichola
- Cooper Nicola
- Cosgrove Catherine
- Cox Helen
- Cox Tony
- Craddock Nick
- Creaser-Myers Amanda
- Cresswell Lara
- Crooks Lucy
- Cross Gareth
- Cross J. Helen
- Crow Yanick
- Curran Sarah
- Curtis David
- D?Alessandro Mariella
- Dabir Tabib
- DaCosta Rosa
- Daly Allan
- Daugherty Louise
- Davidson Rosemarie
- Davies Sally
- Davies Sophie
- Davis John
- Day Ian N.M.
- Day-Williams Aaron
- de Vries Dylan
- De Vries Minka
- Dean John
- Debelle Geoff D.
- Deegan Patrick
- Deevi Sri V.V.
- Deshpande Charu
- Deshpande Charu
- Devlin Gemma
- Devlin Lisa
- Dewhurst Eleanor
- Dixit Abhijit
- Dobbie Angus
- Doffinger Rainer
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Dormand Natalie
- Douglas Angela
- Douzgou Sofia
- Down Thomas
- Drewe Elizabeth
- Du Yuanping
- Duncan Alexis
- Dunham Ian
- Eason Jacqueline
- Edgar David
- Edkins Sarah
- Egner William
- Ellard Sian
- Ellis Ian
- Ellis Peter
- Elmslie Frances
- Erber Wendy N.
- Erwood Marie
- Evans David
- Evans Karenza
- Everest Sarah
- Everington Tamara
- Faroogi Sadaf
- Fatemifar Ghazaleh
- Favier Remi
- Fendick Tina
- Firth Helen
- Firth Helen V.
- Fisher Richard
- Fitzgerald Tomas W.
- FitzPatrick David R.
- Fitzpatrick David R.
- Fletcher Debra
- Flicek Paul
- Flinter Frances
- Flinter Frances
- Flyod James
- Foley A. Reghan
- Foulds Nicola
- Fox James C.
- Franklin Christopher S.
- Frary Amy
- Freson Kathleen
- Fry Andrew
- Fryer Alan
- Furie Bruce
- Furnell Abigail
- Futema Marta
- Gale Daniel
- Gallagher Louise
- Gardham Alice
- Gardiner Carol
- Gattens Michael
- Gaunt Lorraine
- Geihs Matthias
- Geschwind Daniel
- Ghali Neeti
- Ghali Neeti
- Ghataorhe Pavandeep K.
- Ghurye Rohit
- Gibbons Richard
- Gibbs Simon
- Gill Harinder
- Gilmour Kimberley
- Gissen Paul
- Goddard Sarah
- Gomez Keith
- Goodship Judith
- Gordins Pavel
- Gorman Kathleen M.
- Goudie David
- Gray Emma
- Green Andrew
- Greene Daniel
- Greene Philip
- Greenhalgh Alan
- Greenhalgh Lynn
- Greinacher Andreas
- Gribble Susan
- Griffin Heather
- Grigoriadou Sofia
- Grozeva Detelina
- GrÀf Stefan
- Guo Xiaosen
- Guo Xueqin
- Gurling Hugh
- Haack Tobias B.
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Haimel Matthias
- Halmagyi Csaba
- Hammerton Tracey
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hart Daniel
- Hart Deborah
- Hawkins Rose
- Hayman Grant
- He Liu
- Heemskerk Johan W.M.
- Hellens Stephen
- Henderson Alex
- Henderson Robert
- Hendricks Audrey
- Hensiek Anke
- Henskens Yvonne
- Herwadkar Archana
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holden Simon
- Holder Muriel
- Holder Muriel
- Holder Susan
- Holder Susan
- Hollingsworth Georgina
- Holmans Peter
- Homfray Tessa
- Howie Bryan
- Hu Fengyuan
- Huang Liren
- Hubbard Tim
- Huissoon Aarnoud
- Humbert Marc
- Humphreys Mervyn
- Humphries Steve E.
- Hurles Matthew E.
- Hurles Matthew E.
- Hurst Jane
- Hurst Jane
- Hutton Ben
- Hysi Pirro
- Ingram Stuart
- Iotchkova Valentina
- Irving Melita
- Islam Lily
- Jackson Andrew
- Jackson David K.
- James Roger
- Jamshidi Yalda
- Jan-Kamsteeg Eric
- Jarvis Joanna
- Jenkins Lucy
- Jing Tian
- Johnson Diana
- Jolles Stephen
- Jones Elizabeth
- Jones Philip
- Jones Wendy D.
- Josifova Dragana
- Josifova Dragana
- Joss Shelagh
- Joyce Chris
- Kaemba Beckie
- Kaplanis Joanna
- Kaye Jane
- Kazembe Sandra
- Kazmi Rashid
- Keane Thomas
- Keeling David
- Kelleher Peter
- Kelly Anne M.
- Kelsell Rosemary
- Kemp John
- Kennedy Fiona
- Kennedy Karen
- Keogh Julia
- Kerr Bronwyn
- Kiely David
- King Daniel
- King Mary D.
- Kingston Helen
- Kingston Nathalie
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kolb-Kokocinski Anja
- Koziell Ania
- Kraus Alison
- Krishnakumar Deepa
- Krishnappa Netravathi
- Kuijpers Taco W.
- Kumar Dhavendra
- Kumar V. K. Ajith
- Kumararatne Dinakantha
- Kurian Manju
- Kurian Manju A.
- Lachance Genevieve
- Lachlan Katherine
- Laffan Michael A.
- Lam Wayne
- Lambert Michele P.
- Lampe Anne
- Langford Cordelia
- Langman Caroline
- Lawrie Allan
- Lawson Daniel
- Lear Sara
- Lee Irene
- Lees Melissa
- Lees Melissa
- Lek Monkol
- Lentaigne Claire
- Li Rui
- Li Yingrui
- Liang Jieqin
- Liesner Ri
- Lim Derek
- Lin Hong
- Linger Rachel
- Liu Ryan
- Longhurst Hilary
- Longman Cheryl
- Lopes Margarida
- Lorenzo Lorena
- Lowther Gordon
- Lynch Sally A.
- Lönnqvist Jouko
- MacArthur Daniel
- Machado Rajiv
- Mackenzie Rob
- MacLaren Robert
- Magee Alex
- Maher Eamonn
- Maher Eamonn R.
- Maher Eddy
- Maimaris Jesmeen
- Male Alison
- Mangles Sarah
- Manson Ania
- Mansour Sahar
- Mapeta Rutendo
- Marchini Jonathan
- Marenne Gaëlle
- Marks Karen
- Markus Hugh S.
- Martin Jennifer
- Martin Katherine
- Masati Larahmie
- Maslen John
- Mason Laura E.
- Massimo Mangino
- Mathias Mary
- Mathieson Iain
- Matser Vera
- Maw Anna
- Maye Una
- McCann Emma
- McConnell Vivienne
- McCullagh Gary
- McDermott Elizabeth
- McEntagart Meriel
- McGowan Ruth
- McGuffin Peter
- McIntosh Andrew
- McJannet Coleen
- McKay Kirsten
- McKechanie Andrew G.
- McKee Shane
- McMullan Dominic J.
- McNerlan Susan
- McQuillin Andrew
- McRae Jeremy F.
- McTague Amy
- McWilliam Catherine
- Meacham Stuart
- Meehan Sharon
- Mefford Heather C.
- Megy Karyn
- Mehta Sarju
- Mehta Sarju
- Metcalfe Kay
- Metrustry Sarah
- Meyer Esther
- Michaelides Michel
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Millar Carolyn M.
- Millichap John J.
- Mitchison Hannah
- Moayyeri Alireza
- Mohammed Shehla
- Moledina Shahin
- Montgomery Tara
- Moore Anthony
- Moore David
- Morgan Sian
- Morrell Nicholas
- Morris James
- Morton Jenny
- Morton Jenny
- Mugalaasi Hood
- Mumford Andrew
- Muntoni Francesco
- Murday Victoria
- Murng Sai
- Murphy Elaine
- Murphy Helen
- Naik Swati
- Nejentsev Sergey
- NellÄker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Noorani Sadia
- Norman Andrew
- Northstone Kate
- Nurden Paquita
- O'Donovan Michael
- O'Rahilly Stephen
- O'Shea Rosie
- Ogilvie Caroline
- Oksenhendler Eric
- Ong Kai-Ren
- Onoufriadis Alexandros
- Oualkacha Karim
- Ouwehand Willem H.
- Owen Michael J.
- Paciorkowski Alex R.
- Palotie Aarno
- Panoutsopoulou Kalliope
- Papadia Sofia
- Park Soo-Mi
- Park Soo-Mi
- Parker Alasdair
- Parker Michael
- Parker Michael J.
- Parker Victoria
- Parr Jeremy R.
- Pasi John
- Patch Chris
- Patel Chirag
- Paternoster Lavinia
- Paterson Joan
- Paterson Joan
- Paunio Tiina
- Payne Felicity
- Payne Jeanette
- Payne Stewart
- Peacock Andrew
- Peerlinck Kathelijne
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Perrett Daniel
- Perry David J.
- Phipps Julie
- Pietilainen Olli
- Pilz Daniela T.
- Plagnol Vincent
- Poduri Annapurna
- Pollard Martin
- Pollock Val
- Polwarth Gary
- Ponsford Mark
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Pressler Ronit M.
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Qasim Waseem
- Quail Michael A.
- Quarrell Oliver
- Quaye Lydia
- Quinti Isabella
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Randall Josh
- Rankin Julia
- Rankin Julia
- Rankin Stuart
- Raymond F. Lucy
- Raymond F. Lucy
- Raymond Lucy
- Raymond Lucy
- Rehnstrom Karola
- Rehnström Karola
- Reich Adi
- Reid Evan
- Rhodes Christopher J.
- Rice Debbie
- Richards Michael
- Richardson Sylvia
- Richter Alex
- Ring Susan
- Ritchie Graham R.S.
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Irene
- Roberts Jonathan
- Roberts Nicola
- Roberts Paul
- Rondina Matthew
- Ross Alison
- Rosser Elisabeth
- Rosser Elisabeth
- Roughley Catherine
- Rue-Albrecht Kevin
- Saggar Anand
- Samant Shalaka
- Samarghitean Crina
- Sampson Julian
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sandford Richard
- Sandford Richard
- Santra Saikat
- Sargur Ravishankar
- Sarkar Ajoy
- Savage David B.
- Savic Sinisa
- Scambler Peter
- Scheffer Ingrid E.
- Schiffels Stephen
- Schmidts Miriam
- Schneider Amy L.
- Schoenmakers Nadia
- Schulman Sol
- Schulze Harald
- Schweiger Susann
- Scott Richard
- Scott Richard
- Scully Marie
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Semple Robert K.
- Seneviratne Suranjith
- Sequeira Cheryl
- Serra Eva
- Sewell Carrock
- Shamardina Olga
- Shannon Nora
- Sharif Saba
- Sharp Sally I.
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Shin So-Youn
- Shipley Debbie
- Sieciechowicz Diana
- Sifrim Alejandro
- Simeoni Ilenia
- Simonic Ingrid
- Simpson Michael A.
- Singh Tarjinder
- Singzon Roldan
- Sivapalaratnam Suthesh
- Skitt Zara
- Skuse David
- Small Kerrin
- Smith Audrey
- Smith Kath
- Smith Kenneth
- Smithson Sarah
- Sneddon Linda
- Sohal Aman
- Southam Lorraine
- Southgate Laura
- Spasic-Boskovic Olivera
- Spinelli Egidio
- Splitt Miranda
- Squires Miranda
- St Clair David
- St Pourcian Beate
- Staines Simon
- Stalker Jim
- Staples Emily
- Stauss Hans
- Stein Penelope
- Stephens Jonathan
- Stevens Elizabeth
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- Stewart Helen
- Stirrups Kathleen
- Stock Sophie
- Straub Volker
- Sun Jianping
- Suntharalingam Jay
- Suri Mohnish
- Sutton Vivienne
- Suvisaari Jaana
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Tachmazidou Ionna
- Tait R. Campbell
- Talks Kate
- Tan Yvonne
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- Taylor Cat
- Taylor Rohan
- Tein Mark
- Temple I. Karen
- Thachil Jecko
- Thaventhiran James
- Thomas Ellen
- Thomas Moira
- Thompson Dorothy
- Thomson Jenny
- Thrasher Adrian
- Tischkowitz Marc
- Tischkowitz Marc
- Titterton Catherine
- Tivey Adrian R.
- Tobin Martin D.
- Toh Cheng-Hock
- Tomkins Susan
- Torokwa Audrey
- Toshner Mark
- Treacy Becky
- Treacy Carmen
- Trembath Richard
- Tuna Salih
- Turek Wojciech
- Turner Claire
- Turnpenny Peter
- Turro Ernest
- Tysoe Carolyn
- Valdes Ana
- Van Geet Chris
- Van Kogelenberg Margriet
- Vandersteen Anthony
- Varghese Vinod
- Vasudevan Pradeep
- Veltman Marijke
- Vijayarangakannan Parthiban
- Vijayarangakannan Parthiban
- Visscher Peter M.
- Vogt Julie
- Vogt Julie
- von Ziegenweldt Julie
- Vonk Noordegraaf Anton
- Wain Louise V.
- Wakeling Emma
- Wakeling Emma
- Wallwark Sarah
- Walters James T.R.
- Wang Guangbiao
- Wang Jun
- Wang Yu
- Wanjiku Ivy
- Ward Kirsten
- Warner Timothy Q.
- Wassmer Evangeline
- Wassmer Evangeline
- Waters Jonathon
- Watkins Hugh
- Weber Astrid
- Webster Andrew
- Welch Steve
- Wellesley Diana
- Westbury Sarah
- Wharton John
- Wheeler Elanor
- Whiteford Margo
- Whitehorn Deborah
- Whyte Tamieka
- Widaa Sara
- Wilcox Sarah
- Wilkins Martin
- Wilkinson Emily
- Willcocks Lisa
- Williams Denise
- Williams Hywel
- Williams Nicola
- Williamson Catherine
- Williamson Kathleen A.
- Wilson Crispian
- Wilson Louise
- Wong Kim
- Woods Geoff
- Woods Geoffrey
- Wort John
- Wragg Christopher
- Wright Caroline F.
- Wright Michael
- Xu ChangJiang
- Yang Jian
- Yates Laura
- Yau Michael
- Yeatman Nigel
- Yong Patrick
- Young Tim
- Yu Ping
- Zhang Fend
- Zhang Pingbo
- Publication venue
- AJHG
- Publication date
- 01/01/2019
- Field of study
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)