332 research outputs found
Glass Beads in Iron Age Britain: a social approach
- Author
- Publication venue
- Publication date
- 01/01/2014
- Field of study
Studies of Iron Age artefacts from Britain tend to be dominated either by the study of metalwork, or pottery. This thesis presents a study not only of a different material, but also a different type of object: glass beads. These are found in a range of different sizes, shapes, colours, and employ a variety of different decorative motifs. Thus far, glass beads have been studied through typology (Guido 1978a) and compositional analysis (Bertini 2012; Henderson 1982), yet a thorough analysis of the social context of glass beads remains absent.
Through an analysis of glass beads from four key study regions in Britain, this thesis aims not only to address regional differences in appearance and chronology, but also to explore the role that this object played within the networks and relationships that constructed Iron Age society. It seeks to understand how they were used during their lives and how they came to be deposited within the archaeological record, in order to establish the social processes that glass beads were bound within.
The results indicate that glass beads were a strongly regionalised artefact, potentially reflecting differing local preferences for colour and motif. In addition, glass beads, in combination with several other types of object, were integral to Middle Iron Age dress. Given that the first century BC is often seen as a turning point in terms of settlements and material culture, this supports the possibility of strong continental exchange during an earlier period for either glass beads or raw materials. However, by the Late Iron Age in the first century BC and early first century AD, their use had severely diminished
Multidifferential study of identified charged hadron distributions in Z-tagged jets in proton-proton collisions at s=13 TeV
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- Williams Ifan
- Williams Mark Richard James
- Williams Mike
- Williams Richard Morgan
- Wilson Fergus
- Wislicki Wojciech
- Witek Mariusz
- Witola Lukas
- Wong Cheuk Ping
- Wormser Guy
- Wotton Stephen
- Wu Hangyi
- Wyllie Kenneth
- Xiang Zhiyu
- Xiao Dong
- Xie Yuehong
- Xu Ao
- Xu Jingyi
- Xu Li
- Xu Liangjun
- Xu Menglin
- Xu Qingnian
- Xu Zehua
- Xu Zhihao
- Yang Di
- Yang Shuangli
- Yang Youhua
- Yang Zhenwei
- Yang Zishuo
- Yeomans Lauren Emma
- Yin Hang
- Yu Jiesheng
- Yuan Xuhao
- Zaffaroni Ettore
- Zavertyaev Mikhail
- Zdybal Milosz
- Zenaiev Oleksandr
- Zeng Ming
- Zhang Chenjia
- Zhang Dongliang
- Zhang Liming
- Zhang Shulei
- Zhang Shunan
- Zhang Yanxi
- Zhang Yu
- Zharkova Alina
- Zhelezov Alexey
- Zheng Yangheng
- Zhou Tianwen
- Zhou Xiaokang
- Zhou Yixiong
- Zhovkovska Valeriia
- Zhu Xianglei
- Zhu Xiaoyu
- Zhu Zhanwen
- Zhukov Valery
- Zou Quan
- Zucchelli Stefano
- Zuliani Davide
- Zunica Gianluca
- Publication venue
- Publication date
- 24/08/2022
- Field of study
Jet fragmentation functions are measured for the first time in proton-proton
collisions for charged pions, kaons, and protons within jets recoiling against
a Z boson. The charged-hadron distributions are studied longitudinally and
transversely to the jet direction for jets with transverse momentum 20 <pT<100 GeV and in the pseudorapidity range 2.5<η<4. The
data sample was collected with the LHCb experiment at a center-of-mass energy
of 13 TeV, corresponding to an integrated luminosity of 1.64 fb−1. Triple
differential distributions as a function of the hadron longitudinal momentum
fraction, hadron transverse momentum, and jet transverse momentum are also
measured for the first time. This helps constrain transverse-momentum-dependent
fragmentation functions. Differences in the shapes and magnitudes of the
measured distributions for the different hadron species provide insights into
the hadronization process for jets predominantly initiated by light quarks.Comment: All figures and tables, along with machine-readable versions and any
supplementary material and additional information, are available at
https://cern.ch/lhcbproject/Publications/p/LHCb-PAPER-2022-013.html (LHCb
public pages
Study of the B−→Λc+Λˉc−K− decay
- Author
- Aaij Roel
- Abdelmotteleb Ahmed Sameh Wagih
- Abellan Beteta Carlos
- Abudinén Fernando Jesus
- Ackernley Thomas
- Adeva Bernardo
- Adinolfi Marco
- Adlarson Patrik Harri
- Afsharnia Hossein
- Agapopoulou Christina
- Aidala Christine Angela
- Aiola Salvatore
- Ajaltouni Ziad
- Akar Simon
- Akiba Kazuyoshi
- Albrecht Johannes
- Alessio Federico
- Alexander Michael
- Alfonso Albero Alejandro
- Aliouche Zakariya
- Alvarez Cartelle Paula
- Amalric Renaud
- Amato Sandra
- Amey Jake Lewis
- Amhis Yasmine
- An Liupan
- Anderlini Lucio
- Andersson Martin
- Andreianov Aleksei
- Andreotti Mirco
- Andreou Dimitra
- Ao Dong
- Archilli Flavio
- Artamonov Alexander
- Artuso Marina
- Aslanides Elie
- Atzeni Michele
- Audurier Benjamin
- Bachmann Sebastian
- Bachmayer Marie
- Back John
- Bailly-Reyre Aurelien
- Baladron Rodriguez Pablo
- Balagura Vladislav
- Baldini Wander
- Baptista de Souza Leite Juan
- Barbetti Matteo
- Barlow Roger
- Barsuk Sergey
- Barter William
- Bartolini Matteo
- Baryshnikov Fedor
- Basels Jan-Marc
- Bassi Giovanni
- Batsukh Baasansuren
- Battig Alexander
- Bay Aurelio
- Beck Anja
- Becker Maik
- Bedeschi Franco
- Bediaga Ignacio
- Beiter Andrew
- Belavin Vladislav
- Belin Samuel
- Bellee Violaine
- Belous Konstantin
- Belov Ilia
- Belyaev Ivan
- Ben-Haim Eli
- Benane Gaya
- Bencivenni Giovanni
- Berezhnoy Alexander
- Bernet Andres Sergi
- Bernet Roland
- Berninghoff Daniel
- Bernstein Harris Conan
- Bertella Claudia
- Bertolin Alessandro
- Betancourt Christopher
- Betti Federico
- Bezshyiko Iaroslava
- Bhasin Srishti
- Bhom Jihyun
- Bian Lingzhu
- Bieker Martin Stefan
- Biesuz Nicolo Vladi
- Bifani Simone
- Billoir Pierre
- Biolchini Alice
- Birch Matthew
- Bishop Fionn Caitlin Ros
- Bitadze Alexander
- Bizzeti Andrea
- Blago Michele Piero
- Blake Thomas
- Blanc Frederic
- Blank Jonah Evan
- Blusk Steven
- Bobulska Dana
- Boelhauve Julian Alexander
- Boente Garcia Oscar
- Boettcher Thomas
- Boldyrev Alexey
- Bolognani Carolina
- Bolzonella Riccardo
- Bondar Nikolay
- Borgato Federica
- Borghi Silvia
- Borsato Martino
- Borsuk Jozef Tomasz
- Bouchiba Sonia Amina
- Bowcock Themistocles
- Boyer Alexandre
- Bozzi Concezio
- Bradley Matthew John
- Braun Svende
- Brea Rodriguez Alexandre
- Brodzicka Jolanta
- Brossa Gonzalo Arnau
- Brown James David
- Brundu Davide
- Buonaura Annarita
- Buonincontri Laura
- Burke Aodhan Tomas
- Burr Christopher
- Bursche Albert
- Butkevich Anatoly
- Butter Jordy Sebastiaan
- Buytaert Jan
- Byczynski Wiktor
- Cadeddu Sandro
- Cai Hao
- Calabrese Roberto
- Calefice Lukas
- Cali Stefano
- Calladine Ryan
- Calvi Marta
- Calvo Gomez Miriam
- Campana Pierluigi
- Campora Perez Daniel Hugo
- Campoverde Quezada Angel Fernando
- Capelli Simone
- Capriotti Lorenzo
- Carbone Angelo
- Carboni Giovanni
- Cardinale Roberta
- Cardini Alessandro
- Carniti Paolo
- Carus Leon David
- Casais Vidal Adrian
- Caspary Rowina
- Casse Gianluigi
- Cattaneo Marco
- Cavallero Giovanni
- Cavallini Viola
- Celani Sara
- Cerasoli Jacopo
- Cervenkov Daniel
- Chadwick Abbie Jane
- Chapman Matthew George
- Charles Matthew
- Charpentier Philippe
- Chavez Barajas Carlos Alberto
- Chefdeville Maximilien
- Chen Chen
- Chen Shanzhen
- Chernov Aleksei
- Chernyshenko Serhii
- Chobanova Veronika
- Cholak Serhii
- Chrzaszcz Marcin
- Chubykin Aleksei
- Chulikov Vladimir
- Ciambrone Paolo
- Cicala Maria Flavia
- Cid Vidal Xabier
- Ciezarek Gregory
- Clarke Peter
- Clemencic Marco
- Cliff Harry
- Closier Joel
- Cobbledick John Leslie
- Coco Victor
- Coelho Joao A.B
- Cogan Julien
- Cogneras Eric
- Cojocariu Lucian
- Collins Paula
- Colombo Tommaso
- Congedo Liliana
- Contu Andrea
- Cooke Naomi
- Corredoira Imanol
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- Couturier Benjamin
- Craik Daniel Charles
- Cruz Torres Melissa Maria
- Currie Robert
- d'Ambrosio Carmelo
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- da Silva Cesar Luiz
- Dadabaev Shakhzod
- Dai Lingyun
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- Dalseno Jeremy
- Daniel Jessy
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- Davies Jonathan Edward
- Davis Adam
- de Aguiar Francisco Oscar
- de Boer Jan
- de Bruyn Kristof
- de Capua Stefano
- de Cian Michel
- de Freitas Carneiro da Graca Ulisses
- de Lucia Erika
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- de Paula Leandro
- de Serio Marilisa
- de Simone Dario
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- de Vellis Fabio
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- Dean Cameron Thomas
- Debernardis Francesco
- Decamp Daniel
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- del Buono Luigi
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- Dordei Francesca
- dos Reis Alberto
- Douglas Lauren
- Downes Anthony Gavin
- Duda Piotr Jakub
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- Eidelman Semen
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- Eisenhardt Stephan
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- Ek-In Surapat
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- Trilov Stoyan Miroslavov
- Trippl Carina
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- Tuning Niels
- Ukleja Artur
- Unverzagt Daniel Joachim
- Usachov Andrii
- Ustyuzhanin Andrey
- Uwer Ulrich
- Vagner Alexander
- Vagnoni Vincenzo
- Valassi Andrea
- Valenti Giovanni
- Valls Canudas Nuria
- van Beuzekom Martinus
- van Dijk Maarten
- van Hecke Hubert
- van Herwijnen Eric
- van Hulse Charlotte Barbara
- van Veghel Maarten
- Vazquez Gomez Ricardo
- Vazquez Regueiro Pablo
- Vecchi Stefania
- Velthuis Jaap
- Veltri Michele
- Venkateswaran Aravindhan
- Veronesi Michele
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- Vincent Pascal
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- Vorobyev Alexey
- Vorobyev Vitaly
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- Vrahas Constantinos
- Vázquez Sierra Carlos
- Waldi Roland
- Walsh John
- Wan Guanyue
- Wang Chishuai
- Wang Ganrong
- Wang Jialu
- Wang Jianchun
- Wang Jianqiao
- Wang Jike
- Wang Mengzhen
- Wang Rui
- Wang Xiaolin
- Wang Yilong
- Wang Zhenzi
- Wang Zirui
- Wang Ziyi
- Ward Jake Alexander
- Watson Nigel
- Websdale David
- Wei Yajing
- Weisser Constantin
- Westhenry Benedict Donald C
- White Dylan Jaide
- Whitehead Mark
- Wiederhold Aidan Richard
- Wiedner Dirk
- Wilkinson Guy
- Wilkinson Michael K
- Williams Ifan
- Williams Mark Richard James
- Williams Mike
- Williams Richard Morgan
- Wilson Fergus
- Wislicki Wojciech
- Witek Mariusz
- Witola Lukas
- Wong Cheuk Ping
- Wormser Guy
- Wotton Stephen
- Wu Hangyi
- Wu Jie
- Wyllie Kenneth
- Xiang Zhiyu
- Xiao Dong
- Xie Yuehong
- Xu Ao
- Xu Jingyi
- Xu Li
- Xu Liangjun
- Xu Menglin
- Xu Qingnian
- Xu Zehua
- Xu Zhihao
- Yang Di
- Yang Shuangli
- Yang Xueting
- Yang Youhua
- Yang Zhenwei
- Yang Zishuo
- Yeomans Lauren Emma
- Yeroshenko Vsevolod
- Yeung Ho Yin Dereck
- Yin Hang
- Yu Jiesheng
- Yuan Xuhao
- Zaffaroni Ettore
- Zavertyaev Mikhail
- Zdybal Milosz
- Zenaiev Oleksandr
- Zeng Ming
- Zhang Chenjia
- Zhang Dongliang
- Zhang Liming
- Zhang Shulei
- Zhang Shunan
- Zhang Yanxi
- Zhang Yu
- Zharkova Alina
- Zhelezov Alexey
- Zheng Yangheng
- Zhou Tianwen
- Zhou Xiaokang
- Zhou Yixiong
- Zhovkovska Valeriia
- Zhu Xianglei
- Zhu Xiaoyu
- Zhu Zhanwen
- Zhukov Valery
- Zou Quan
- Zucchelli Stefano
- Zuliani Davide
- Zunica Gianluca
- Publication venue
- Publication date
- 02/11/2022
- Field of study
The decay B−→Λc+Λˉc−K− is studied
in proton-proton collisions at a center-of-mass energy of s=13 TeV
using data corresponding to an integrated luminosity of 5 fb−1
collected by the LHCb experiment. In the Λc+K− system, the
Ξc(2930)0 state observed at the BaBar and Belle experiments is
resolved into two narrower states, Ξc(2923)0 and Ξc(2939)0,
whose masses and widths are measured to be m(Ξc(2923)0)=2924.5±0.4±1.1MeV,m(Ξc(2939)0)=2938.5±0.9±2.3MeV,Γ(Ξc(2923)0)=0004.8±0.9±1.5MeV,Γ(Ξc(2939)0)=0011.0±1.9±7.5MeV, where the first uncertainties are statistical and the second
systematic. The results are consistent with a previous LHCb measurement using a
prompt Λc+K− sample. Evidence of a new Ξc(2880)0
state is found with a local significance of 3.8σ, whose mass and width
are measured to be 2881.8±3.1±8.5MeV and 12.4±5.3±5.8MeV, respectively. In addition, evidence of a new decay mode
Ξc(2790)0→Λc+K− is found with a significance of
3.7σ. The relative branching fraction of B−→Λc+Λˉc−K− with respect to the B−→D+D−K−
decay is measured to be 2.36±0.11±0.22±0.25, where the first
uncertainty is statistical, the second systematic and the third originates from
the branching fractions of charm hadron decays.Comment: All figures and tables, along with any supplementary material and
additional information, are available at
https://cern.ch/lhcbproject/Publications/p/LHCb-PAPER-2022-028.html (LHCb
public pages
Measurement of the ratios of branching fractions R(D∗) and R(D0)
- Author
- Aaij Roel
- Abdelmotteleb Ahmed Sameh Wagih
- Abellan Beteta Carlos
- Abudinén Fernando Jesus
- Ackernley Thomas
- Adeva Bernardo
- Adinolfi Marco
- Adlarson Patrik Harri
- Afsharnia Hossein
- Agapopoulou Christina
- Aidala Christine Angela
- Ajaltouni Ziad
- Akar Simon
- Akiba Kazuyoshi
- Albicocco Pietro
- Albrecht Johannes
- Alessio Federico
- Alexander Michael
- Alfonso Albero Alejandro
- Aliouche Zakariya
- Alvarez Cartelle Paula
- Amalric Renaud
- Amato Sandra
- Amey Jake Lewis
- Amhis Yasmine
- An Liupan
- Anderlini Lucio
- Andersson Martin
- Andreianov Aleksei
- Andreotti Mirco
- Andreou Dimitra
- Ao Dong
- Archilli Flavio
- Artamonov Alexander
- Artuso Marina
- Aslanides Elie
- Atzeni Michele
- Audurier Benjamin
- Bachiller Perea Irene
- Bachmann Sebastian
- Bachmayer Marie
- Back John
- Bailly-Reyre Aurelien
- Baladron Rodriguez Pablo
- Balagura Vladislav
- Baldini Wander
- Baptista de Souza Leite Juan
- Barbetti Matteo
- Barlow Roger
- Barsuk Sergey
- Barter William
- Bartolini Matteo
- Baryshnikov Fedor
- Basels Jan-Marc
- Bassi Giovanni
- Batsukh Baasansuren
- Battig Alexander
- Bay Aurelio
- Beck Anja
- Becker Maik
- Bedeschi Franco
- Bediaga Ignacio
- Beiter Andrew
- Belin Samuel
- Bellee Violaine
- Belous Konstantin
- Belov Ilia
- Belyaev Ivan
- Ben-Haim Eli
- Benane Gaya
- Bencivenni Giovanni
- Berezhnoy Alexander
- Bernet Andres Sergi
- Bernet Roland
- Berninghoff Daniel
- Bernstein Harris Conan
- Bertella Claudia
- Bertolin Alessandro
- Betancourt Christopher
- Betti Federico
- Bezshyiko Iaroslava
- Bhasin Srishti
- Bhom Jihyun
- Bian Lingzhu
- Bieker Martin Stefan
- Biesuz Nicolo Vladi
- Billoir Pierre
- Biolchini Alice
- Birch Matthew
- Bishop Fionn Caitlin Ros
- Bitadze Alexander
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- Shekhtman Lev
- Shen Zhihong
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- Watson Nigel
- Websdale David
- Wei Yajing
- Westhenry Benedict Donald C
- White Dylan Jaide
- Whitehead Mark
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- Wiedner Dirk
- Wilkinson Guy
- Wilkinson Michael K
- Williams Ifan
- Williams Mark Richard James
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- Wormser Guy
- Wotton Stephen
- Wu Hangyi
- Wu Jie
- Wyllie Kenneth
- Xiang Zhiyu
- Xie Yuehong
- Xu Ao
- Xu Jingyi
- Xu Li
- Xu Liangjun
- Xu Menglin
- Xu Qingnian
- Xu Zehua
- Xu Zhihao
- Yang Di
- Yang Shuangli
- Yang Xueting
- Yang Youhua
- Yang Zhenwei
- Yang Zishuo
- Yeomans Lauren Emma
- Yeroshenko Vsevolod
- Yeung Ho Yin Dereck
- Yin Hang
- Yu Jiesheng
- Yuan Xuhao
- Zaffaroni Ettore
- Zavertyaev Mikhail
- Zdybal Milosz
- Zeng Ming
- Zhang Chenjia
- Zhang Dongliang
- Zhang Liming
- Zhang Shulei
- Zhang Shunan
- Zhang Yanxi
- Zhang Yu
- Zhao Ya
- Zharkova Alina
- Zhelezov Alexey
- Zheng Yangheng
- Zhou Tianwen
- Zhou Xiaokang
- Zhou Yixiong
- Zhovkovska Valeriia
- Zhu Xianglei
- Zhu Xiaoyu
- Zhu Zhanwen
- Zhukov Valery
- Zou Quan
- Zucchelli Stefano
- Zuliani Davide
- Zunica Gianluca
- Publication venue
- Publication date
- 01/01/2023
- Field of study
The ratios of branching fractions
R(D∗)≡B(Bˉ→D∗τ−νˉτ)/B(Bˉ→D∗μ−νˉμ) and R(D0)≡B(B−→D0τ−νˉτ)/B(B−→D0μ−νˉμ) are measured, assuming isospin symmetry, using a
sample of proton-proton collision data corresponding to 3.0 fb−1 of
integrated luminosity recorded by the LHCb experiment during 2011 and 2012. The
tau lepton is identified in the decay mode
τ−→μ−ντνˉμ. The measured values are
R(D∗)=0.281±0.018±0.024 and
R(D0)=0.441±0.060±0.066, where the first uncertainty is
statistical and the second is systematic. The correlation between these
measurements is ρ=−0.43. Results are consistent with the current average
of these quantities and are at a combined 1.9 standard deviations from the
predictions based on lepton flavor universality in the Standard Model.Comment: All figures and tables, along with any supplementary material and
additional information, are available at
https://cern.ch/lhcbproject/Publications/p/LHCb-PAPER-2022-039.html (LHCb
public pages
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 Inês
- 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
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- Bolton-Maggs Paula
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- Vijayarangakannan Parthiban
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- 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
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- Wellesley Diana
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- Whyte Tamieka
- Widaa Sara
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- 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)
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
- Author
- Abou Jamra Rami
- Accogli Andrea
- Ahmed Munaza
- Aitken Stuart
- Akawi Nadia
- Alvi Mohsan,
- Ambridge Kirsty
- Amburgey Kimberly
- Anderlid Britt Marie
- Anjum Uruj
- Archer Hayley
- Armstrong Ruth
- Awada Jana
- Azzarello-Burri Silvia
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Barnicoat Angela
- Barrett Daniel
- Barrett Jeffrey
- Basinger Alice
- Batstone Paul
- Baty David
- Baxter Samantha
- Bayzetinova Tanya
- Bennett Chris
- Berg Jonathan
- Bernhard Birgitta
- Bevan A. Paul
- Bianchini Claudia,
- Bird Lynne
- Bitner-Glindzicz Maria
- Blair Edward
- Blyth Moira
- Bohanna David
- Bourdon Louise
- Bourn David
- Bradley Lisa
- Brady Angela,
- Brent Simon
- Brewer Carole
- Brunstrom Kate
- Buchert Rebecca
- Bunyan David
- Burn John
- Canham Natalie
- Carré Wilfrid
- Castle Bruce
- Ceulemans Sophia
- Chandler Kate
- Charles Perrine
- Chatzimichali Elena
- Cilliers Deirdre
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clowes Virginia
- Coates Andrea
- Cole Trevor
- Colgiu Irina
- Collins Amanda
- Collinson Morag
- Connell Fiona
- Cooper Nicola
- Cox Helen
- Cresswell Lara
- Cross Gareth
- Crow Yanick
- Culliton Lisa
- Currò Aurora
- Dabir Tabib
- Davidson Rosemarie
- Davies Sally
- de Vries Dylan
- Dean John
- Demurger Florence
- Deshpande Charu
- Devlin Gemma
- Dixit Abhijit
- Dobbie Angus
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Douglas Angela
- Douzgou Sofia
- Dowling James,
- Duban-Bedu Bénédicte
- Dubourg Christèle
- Duncan Alexis
- D’Alessandro Mariella
- Eason Jacqueline
- Eiset Saga Elise
- Ellard Sian
- Ellis Ian
- Elmslie Frances
- Escobar Luis
- Evans Karenza
- Everest Sarah
- Faundes Víctor
- Fendick Tina
- Ferrarini Alessandra
- Firth Helen
- Fisher Richard
- Fitzgerald Tomas
- Fitzpatrick David
- Flinter Frances
- Foulds Nicola
- Fry Andrew
- Fryer Alan
- Gardiner Carol
- Gaunt Lorraine
- Ghali Neeti
- Gibbons Richard
- Gill Harinder
- Goodship Judith
- Goudie David
- Gray Emma
- Green Andrew
- Greene Philip
- Greenhalgh Lynn
- Gribble Susan
- Haack Tobias,
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hashim Mona
- Hawkins Rose
- He Liu
- Heide Solveig
- Helbig Ingo
- Helbig Katherine,
- Hellens Stephen
- Henderson Alex
- Heredia Raul
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holder Muriel
- Holder Susan
- Hollingsworth Georgina
- Homfray Tessa
- Humphreys Mervyn
- Hurles Matthew,
- Hurst Jane
- Hutton Ben
- Héron Delphine
- Ingram Stuart
- Irving Melita
- Isidor Bertrand
- Islam Lily
- Jackson Andrew
- Jarvis Joanna
- Jenkins Lucy
- Johnson Diana
- Jonasson Amy
- Jones Elizabeth
- Jones Philip,
- Jones Wendy
- Joset Pascal
- Josifova Dragana
- Joss Shelagh
- Kaemba Beckie
- Kaplanis Joanna
- Kazembe Sandra
- Kelsell Rosemary
- Keren Boris
- Kerr Bronwyn
- King Daniel
- Kingston Helen
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kok Fernando
- Kraus Alison
- Krishnappa Netravathi
- Kroes Hester
- Kumar Dhavendra
- Kumar V.
- Lachlan Katherine
- Lam Wayne
- Lampe Anne
- Langman Caroline
- Lavillaureix Alinoë
- Lees Melissa
- Lim Derek
- Longman Cheryl
- Lowther Gordon
- Lu Xin
- Luria Victor
- Lynch Sally
- Maas Saskia
- Maegawa Gustavo H.B.
- Magee Alex
- Maher Eddy
- Male Alison
- Mansour Sahar
- Marcelis Carlo L.M.
- Mark Paul
- Marks Karen
- Martin Katherine,
- Mason Laura
- Masruha Marcelo
- Maye Una
- McCann Emma
- McConnell Vivienne
- McEntagart Meriel
- McGowan Ruth
- McKay Kirsten
- McKee Shane
- McLaughlin Heather
- McMullan Dominic
- McNerlan Susan
- McRae Jeremy
- McWalter Kirsty
- McWilliam Catherine
- Mehta Sarju
- Melchinger Esther
- Mercimek-Andrews Saadet
- Metcalfe Kay
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Mohammed Shehla
- Montgomery Tara
- Moore David
- Morgan Sian,
- Morton Jenny
- Mugalaasi Hood
- Murday Victoria
- Murphy Helen
- Naik Swati
- Nava Caroline
- Nellåker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Norman Andrew
- Ogilvie Caroline
- Ong Kai-Ren
- O’Donnell-Luria Anne
- O’Shea Rosie
- Pais Lynn
- Park Soo-Mi
- Parker Michael
- Patel Chirag
- Paterson Joan
- Payne Stewart
- Pendziwiat Manuela
- Perrett Daniel
- Person Richard,
- Phipps Julie
- Pilz Daniela,
- Pollard Martin
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Quarrell Oliver
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Ramelli Gian Paolo
- Ramos Luiza L.P.
- Randall Josh
- Rankin Julia
- Rauch Anita
- Raymond Lucy
- Reavey Caitlin
- Renieri Alessandra
- Rice Debbie
- Rieß Angelika
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Jonathan
- Roberts Paul
- Rodan Lance,
- Ross Alison
- Rosser Elisabeth
- Saggar Anand
- Samant Shalaka
- Sampson Julian
- Sanchez-Valle Amarilis
- Sandford Richard
- Sarkar Ajoy
- Sattar Shifteh
- Saunders Carol
- Schwarz Niklas
- Schweiger Susann
- Scott Richard
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Sequeira Cheryl
- Shannon Nora
- Sharif Saba
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Sifrim Alejandro
- Simonic Ingrid
- Singh Tarjinder
- Singzon Roldan
- Skitt Zara
- Smith Audrey
- Smith Kath
- Smithson Sarah
- Smol Thomas
- Sneddon Linda
- Splitt Miranda
- Squires Miranda
- Srour Myriam
- Steindl Katharina
- Stewart Fiona
- Stewart Helen
- Straub Volker
- Suri Mohnish
- Sutton Vivienne
- Sveden Abigail
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Syrbe Steffen
- Tatton-Brown Kate
- Taylor Cat
- Taylor Jenny
- Taylor Rohan
- Tein Mark
- Telegrafi Aida
- Temple I. Karen
- Thiffault Isabelle
- Thomson Jenny
- Tischkowitz Marc
- Tivey Adrian
- Tomkins Susan
- Torokwa Audrey
- Trauner Doris
- Treacy Becky
- Turner Claire
- Turnpenny Peter
- Tysoe Carolyn
- van der Linden Helio
- van Koningsbruggen Silvana
- Vandersteen Anthony,
- Varghese Vinod
- Vasudevan Pradeep
- Vijayarangakannan Parthiban
- Villard Laurent
- Vogel Ida
- Vogt Julie
- Wakeling Emma
- Wallwark Sarah
- Waters Jonathon
- Weber Astrid
- Weber Yvonne
- Wellesley Diana
- Wentzensen Ingrid
- Whiteford Margo
- Widaa Sara
- Widjaja Elysa
- Wilcox Sarah
- Wilkinson Emily
- Williams Denise
- Williams Nicola
- Wilson Louise
- Wood Jordan
- Woods Geoff
- Wragg Christopher
- Wright Caroline
- Wright Michael
- Yates Laura
- Yau Michael
- Zak Jaroslav
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2019
- Field of study
We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities
Effect of angiotensin-converting enzyme inhibitor and angiotensin receptor blocker initiation on organ support-free days in patients hospitalized with COVID-19
- Author
- ?ivko Iris
- Abbass Hakam
- Abdeladim Lilia
- Abdelhady Hesham
- Abdelkharim Hussam
- Abdelrazik Marwa
- Abdi Zakee
- Abdukahil Sheryl Ann
- Abel Lynn
- Abraham Jacinta
- Abrahamson Gail
- Abusamra Yousuf
- Aceto Romina
- Adams Nick
- Adams Peter
- Adebambo Olumide
- Adhikari Neill
- Adhikari Sheetal
- Affleck Julia
- Agha Gloria
- Aghemo Alessio
- Agno Ronan
- Ahmad Norfaizan
- Ain Quratul
- Ainscough Kate
- Ainsworth James
- Aitken Lindianne
- Akamp Ceren
- Al Enezi Farhan
- Al-Bassam Wisam
- Al-Beidh Farah
- Albert Martin
- Albrett Jonathan
- Alderman Meera
- Aldo Bonizzoni Matteo
- Alegria Ana
- Alessandro Carà Gianmarco
- Alexander Brian
- Alexander Peter
- Alfonso Jordan
- Ali Maryam
- Ali Murtaza
- Allam Hayat
- Allen Barbara
- Allen Louise
- Allibone Suzanne
- Almeshhedani Hasham
- AlQahtani Samah
- Alswaidan Lolowa
- Altomy Mohammed
- Al Amri Ali
- Al Qasim Eman
- Amatya Sameena
- Ambrosino Richard
- Anderson Thomas
- Andreae Mark
- Aneman Anders
- Angus Derek C.
- Anjum Aisha
- Ankert Juliane
- Annane Djillali
- Anne-Laure Fedou
- Anstey Matthew
- Antcliffe David
- Anthony Alpha
- Antoine Marchalot
- Antoine Pierre
- Antoine Studer
- Anumakonda Vikram
- Aparicio Christelle
- Aquino Maia
- Arabi Yaseen M.
- Arachchige Malka
- Aravindan Latha
- Arbane Gill
- Archambault Patrick
- Archer Simon
- Aref Noah
- Arias Ana-Marie
- Arias Sonia
- Arishi Hatim
- Arnold Donald
- Arnold John
- Arnott Andrew
- Arora Anand
- Aryal Diptesh
- Asghar Adeeba
- Asif Namra
- Aspinwall Angelique
- Attokaran Antony
- Attwood Ben
- Au Carly
- Audry Mathilde
- Austin Karen
- Austin Pauline
- Auvet Adrien
- Avard Bronwyn
- Awan Sidra
- Ayee Robert
- Azaiz Amine
- Azzaui Harun
- Babu Suresh
- Bacon Gina
- Badalamenti Salvatore
- Badie Julio
- Bagavathy Kavitha
- Bagot Catherine
- Bagshaw Sean
- Baig Nadia
- Baikady Ravishankar
- Bailey Lucy
- Baillie Kenneth
- Bain William
- Baker Alice
- Baker Evelyn
- Baker Stuart
- Bakthavatsalam Dhanalakshmi
- Balaie Morteza
- Balls-Burgess Sam
- Bamford Amy
- Bamford Peter
- Banach Dorota
- Bannard-Smith Jonathan
- Barbash Ian
- Barber Russell
- Barbier François
- Barge Deborah
- Bariola Ryan
- Barker Gareth
- Barker Stephanie
- Barnes Nicky
- Baron Rebecca M.
- Barreau Amelie
- Barreau Amélie
- Bart Robert
- Bartholomew Jazz
- Bartley Shauna
- Barton David
- Barton Frances
- Bashyal Archana
- Basile Kim
- Bass Frances
- Bassford Christopher
- Bastos Joana Margarida Pereira Sousa
- Bates Michelle
- Bates Samantha
- Batista Teresa Margarida Oliveira
- Bauchmuller Kris
- Bayne Madeleine
- Bean Sarah
- Beane Abi
- Beane Abigail
- Beard Gregory
- Beasley Richard
- Beaudoin Rosalie
- Beavis Sarah
- Beddows Seonaid
- Bedford Caroline
- Beer Deborah
- Beer Sally
- Begin Phillipe
- Begum Salma
- Bell Gillian
- Bellemare David
- Belletti Allesandro
- Bendjemar Lynda
- Benettaib Fatna
- Bensen Nicole
- Bentley Andrew
- Benyon Sarah
- Benzekri Dalila
- Beqai Besa
- Berdaguer Fernando
- Beresford Stephanie
- Bergin Colin
- Berry Lindsay R.
- Berry Scott
- Berryman Emily
- Bertel Melanie
- Best-Lane Janis
- Besten Henny
- Bevan Emily
- Bewley Jeremy
- Beyerl Ashley
- Bhagani Sanjay
- Bhandal Khushpreet
- Bharaj Kiranjit
- Bhattarai Bina
- Bhattarai Binita
- Bhonagiri Deepak
- Biddie Simon
- Bigas Judit
- Bihari Shailesh
- Bin Hasan Mohd Shahnaz
- Bindels Manon
- Binnie Alexandra
- Biradar Vishwanath
- Birch Catherine
- Birch Janine
- Birch Sophie
- Birchall Kathrine
- Birkinshaw Isobel
- Black Ethel
- Blackledge Bethany
- Blakemore Hayley
- Blanck Wendy
- Bland Yvonne
- Blank Elisabeth
- Bleasdale John
- Bloomfield Jack
- Bloos Frank
- Board Jasmin
- Boardman Melanie
- Boari Gianluca
- Bocher Simon
- Bociek Aneta
- Boivin Anne-Helene
- Boivin Anne-Hélène
- Bojunga Jörg
- Bomken Charlotte
- Bonaccorso Allesandra
- Bongaerts Katherine
- Bonner Stephen
- Bonten Marc J. M.
- Borgatta Barbara
- Borislavova Borislava
- Borrill Zoe
- Boschert Catherine
- Bossard Isabelle
- Bothma Pieter
- Boudineau Michel
- Boulanger Marie-Claude
- Boumahni Dounia
- Bouman Angela
- Bounab Rania
- Bourgoin Charlotte
- Bourne Michelle
- Bourne Richard
- Boutin Mireille
- Bouvier Elodie
- Bouw-Ruiter Marianne
- Boué Yvonnick
- Bowen James
- Bowler Helen
- Boyd Craig
- Boyles Rebecca
- Bracke Stephanie
- Bradbury Charlotte A.
- Bradley Paul
- Brady Kara
- Brailsford Jane
- Brain Matthew
- Brakké Karen
- Brant Emily
- Brasselet Aurélie
- Breen Patrick
- Bremmer Pamela
- Brend Morwenna
- Brennan Aoife
- Bretagnol Anne
- Brett Stephen
- Brewer Chris
- Brickell Kathy
- Bridges Sarah
- Brieger Klaus-Gerd
- Brightling Chris
- Brimfield Lutece
- Brittain Michael
- Britton Kate
- Brochard Laurent
- Brodbeck Andreas
- Brohi Farooq
- Brooks Nicole
- Brown Cynthia
- Brown Julia
- Brown Louise
- Brown Nerissa
- Brown Zarah
- Brugman Curt
- Brunetta Enrico
- Brunkhorst Frank M.
- Brunskill Nigel
- Bryan-Morris Kayla
- Bryden Emma
- Budd Joanna
- Buehner Ulrike
- Buhay Megan
- Buhr Heidi
- Burbee Dylan
- Burda Dorota
- Burgess Richard
- Burke David
- Burke Tara
- Burkey Jason
- Burnish Rachel
- Burns Dean
- Burns Karen
- Burrell Aidan
- Burt Karen
- Buscher Hergen
- Butler Amelia
- Butler Magdalena
- Butler Susan
- Buxton Meredith
- Buzgau Adrian
- Byrne Kathleen
- Byrne Rahim
- Cabrelli Louise
- Cabreros Leilani
- Cairns Tom
- Calfee Carolyn
- Callahan Jean-Christophe
- Cambalova Lenka
- Campbell Andrew
- Campbell Bridget
- Campbell Debbie
- Campbell Hilary
- Campbell Lewis
- Campbell Marion
- Campbell Ryan
- Campion Alexandra
- Campisi Josie
- Camsooksai Julie
- Caplin Cecile
- Carbonneau Elaine
- Carmichael Samantha
- Carmona Rosario
- Carn Vanessa
- Carpio Lillian
- Carr Zoe
- Carr-Wilkinson Joanne
- Carrier François
- Carrier Marc
- Carter Angus
- Carter Brittney
- Carter David
- Carter Jay
- Carter Michael
- Casali Sherry
- Casey Ruth
- Casey Siobhan
- Castelain Vincent
- Castle James
- Cathcart Susanne
- Catorze Nuno José Teodoro Amaro dos Santos
- Cattelan Jessy
- Cavayas Alexandros
- Cawley Kathryn
- Cecconi Maurizio
- Centofanti John
- Chambers Emma
- Champanerkar Shreekant
- Chan Carmen
- Chan Charles
- Chan Peter
- Chapman Rachel
- Chapman Susan
- Charles Bethan
- Charles Walton
- Charlewood Richard
- Charlton Sam
- Charron Cyril
- Chartier Delphine
- Chasse Michael
- Chassé Michaël
- Chen Jonathan
- Chen Lixian
- Chen Yan
- Cheng Allen C.
- Cherian Shiney
- Chhablani Manish
- Chin Teri
- Chudeau Nicolas
- Chukkambotla Sri
- Ciccarelli Michele
- Cirstea Emanuel
- Clair Bernard
- Clark Amy
- Clark Michele
- Clark Richard
- Clark Sarah
- Clarke Frances
- Clarke Jennifer
- Claxton Andrew
- Cleary Joanne
- Clement Ian
- Clere-Jehl Raphael
- Clermont Giles
- Clermont Gilles
- Clinton Alison
- Cloutier Ève
- Cockrell Maeve
- Codreanu Daniel
- Coetzee Samantha
- Coghlan Phoebe
- Cole Jade
- Coles Jennifer
- Colin Gwenhael
- Collier Dawn
- Collins Amy
- Collins Daniel
- Collins Emma
- Collins Joanne
- Collins Érin
- Collis Matthew
- Combaux Daniele
- Commons Robert
- Comp Susan
- Concha Pablo
- Connolly Karen
- Constantini Elena
- Constantino-Occhipinti Claudia
- Contou Damien
- Convery Karen
- Conway Robert
- Conzelmann Nadine
- Cook Deborah
- Cook Tim
- Cooke Jill
- Cooke Justin
- Cooper Jamie
- Cooper Josh
- Cooper Lauren
- Cooper Melanie
- Cooper Nichola
- Corbett Sarah
- Corcoran Ele
- Corcoran Kathleen
- Cornell Sarah
- Cornell Thomas
- Cort Jon
- Costerousse Olivier
- Couillard-Chénard Émilie
- Courtin Laura
- Coutts Amanda
- Couture Lourie
- Cove Matthew
- Cowdrey Keri-Anne
- Cowley Nicholas
- Cowton Amanda
- Coyne Mark
- Craddock Richard
- Craner Michelle
- Craven Thomas
- Crawshaw Sarah
- Creagh-Brown Ben
- Creange Vanessa
- Cremer Olaf
- Crisp Nikki
- Croft Maria
- Csabi Peter
- Cudlipp Joanna
- Cuesta Jeronimo
- Cuffaro Raffaele
- Curley Gerard
- Currie Andrew
- Cusack Rebecca
- Cuthbertson Brian
- Cutler Sean
- Cárcel Sheila
- Côté Émilie
- D?Amato Fabiola
- D?Aragon Frédérick
- Daebis Admad
- Daher Rana
- Dale Katie
- Daley Jessica
- Dalton James
- Daly James
- Daly Zoe
- Daneman Nick
- Dark Paul
- Darnell Robert
- Darreau Cedric
- Daugherty Jason
- Davey Miriam
- Davidson Neil
- Davies Ellie
- Davies Gwyneth
- Davies Jennifer
- Davies Louisa
- Davies Michelle
- Davies Rhys
- Dawson Laura Ann
- Dawvda Ashlish
- Day Christopher
- Da Rocha Joana
- De Bus Liesbet
- de Courcy-Golder Kim
- de Groot Klaas
- de Jong Menno
- de Jonge Evert
- De Keulenaer Bart
- de la Torre Cisneros Julian
- de Man Angelique
- De Neef Mark
- De Smeytere Anouska
- Deacon Bethan
- Dean Steven
- Dean Tessa
- Dearden Joy
- Dechert William
- Declercq Pierre-Louis
- Degracia Anna
- del Sorbo Lorenzo
- Dela Rosa Arnold
- Delaney Kirsha
- Dell Abbie
- del Prado Michael
- Demetriou Carrie
- Dempster Debra
- Denham Lynn
- Denmade Craig
- Dent Martin
- Depante Maria
- Depuydt Pieter
- Dequin Pierre-François
- Derde Lennie P. G.
- Deshpande Kush
- Detry Michelle A.
- Deye Nicolas
- de la Fuente Carmen
- De Waele Jan
- Dheke Krishan
- Di Lucca Giuseppe
- Dias Priya
- Dice Julie
- Digby Stephen
- Diridis Kristina
- Distler Michael
- Dobell-Brown Kelsey
- Doble Patricia
- Dobson Jade
- Doherty Kaleigh
- Doherty Ronan
- Doi Yohei
- Dolman Rozzie
- Domingo-Marco Joana
- Donadee Chenell
- Donaldson Kate
- Dondrop Arjen
- Donegan Clare
- Donlon Sinead
- Donnelly Adrian
- Donnelly Kieran
- Donnison Phil
- Doonan Reece
- Doran Peter
- Dore Rachael
- Dormand Natalie
- Dos Santos Filipa
- Douillard Thomas
- Drake Chelsea
- Drapola Debra
- Drayss Maria
- Drummond Andrew
- Drury Kay
- Duan Erick
- Duberley Stephen
- Duffy Eamon
- Duffy Oscar
- Duke Graeme
- Duke Zoe
- Duncan Tracy
- Dunsavage Janice
- Duplaix Mathilde
- Duric Natalie
- Duroux Maree
- Dushianthan Ahilanandan
- Dyas Sarah
- Eapen Beena
- Eastgate Christine
- Ebenezer R
- Edmunds Natasha
- Edwards Alexandra
- Efford Georgia
- Egreteau Pierre
- Ehrmann Stephan
- Eichenauer Dennis
- Eisenbeis Simone
- Ekhérian Jean-Michel
- El-Khawas Khaled
- Elender Corinna
- Elgendy Ahmad
- Elhassan Munzir
- Ellervee Anneli
- Ellis Chiara
- Ellis Christine
- Ellis Yvette
- Elmahi Einas
- Elsefi Tarek
- Eltayeb Ayaa
- Elvira Evangeline
- England Jenna
- Englert Sarah
- English Shane
- Epelman¸ Slava
- Eroglu Ege
- Estcourt Lise J.
- Estensen Kristen
- Evans Amy
- Evans Andrew
- Evans Debra
- Evans Gabrielle
- Everitt Robert
- Evers Mirjam
- Evetts George
- Ewalds Esther
- Ezekowitz Justin
- Fagan Laura
- Fagbodun Elizabeth
- Farahi Neda
- Fareed Komal
- Farnell-Ward Sarah
- Fartoukh Muriel
- Faulkner Beverley
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- Kremling Julius
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- Krishnamoorthy S
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- Kruger Peter
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- McAdams David
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- McCarthy Aine
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- McGoldrick Clare
- McGuigan Peter
- McGuinness Shay P.
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- Mouncey Paul R.
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- Paramasivam Elankumaran
- Parekh Dhruv
- Parikh Harshel G.
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- Ralston Maximillian
- Ramakrishnan N
- Ramali Mohamed
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- Saunders Christina T.
- Saunderson Paula
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- Saxena Manoj
- Sayada Sarah
- Sayehli Cyrus
- Scanlan Jeremy
- Scano Riccardo
- Schaaf Bernhard
- Schlegel Christian
- Schmidhofer Mark
- Schneider Francis
- Schoenling Andrew
- Scholl Denise
- Schotsman Joost
- Schouten Jeroen
- Schueler Robert
- Schuster-Bruce Martin
- Schutgens Roger
- Schweikert Sacha
- Scott Kathryn
- Scott Zoe
- Scully Michael
- Seaman Rebecca
- Seidel Antje
- Seidu Fatima
- Seigne Patick
- Sekiwala Rose
- Sellers Katharine
- Selmi Carlo
- Sement Arnaud
- Senya Ho
- Seppelt Ian
- Sernicola Elisa
- Serri Karim
- Sevilla Chanthou
- Seymour Christopher W.
- Shah Faraaz
- Shahid Tasnin
- Shaikh Arif
- Shaikh Mohiuddin
- Shakya Roshni
- Shankar-Hari Manu
- Sharma Deepak
- Shaw David
- Shaw Deborah
- Shaw Joanne
- Shearer Audrey
- Sheath Ben
- Sheffield Jonathan
- Shehabi Yahya
- Shekar Kiran
- Shelton Sarah
- Sherwood Nick
- Shetty Varun
- Shields Fiona
- Shimabukuro-Vornhagen Alexander
- Shintani Ayumi
- Shirley Kim
- Shovelton Charmaine
- Shree Madhu
- Shrestha Namrata
- Shrestha Sabita
- Shrestha Tapaswi
- Shu Ki Lok Jennifer
- Shyamsundar Murali
- Siami Shidasp
- Sibin Sindhu
- Sicat Christine
- Siddiqui Atif
- Siddiqui Ayesha
- Sidéris Georgios
- Siewerski Chris
- Siika Wangari
- Sikondari Nyma
- Silversides Jon
- Sim Malcolm
- Simmonds Catherine
- Simons Koen
- Simpson Benjamin
- Simpson Joanna
- Simpson Scott
- Simpson Tom
- Sinclair Julie-Ann
- Singh Jayaprakash
- Singh Rajeev
- Singh Vanessa
- Singler Karen
- Singleton Jo
- Sinha Pratik
- Skinner Denise
- Skinner Tabitha
- Skorko Agnieszka
- Skrtich Aimee
- Slaughter Melanie
- Slieker Kitty
- Sligl Wendy
- Sloan Andrew
- Sloots-Cuppen Sonja
- Small Charlotte
- Smallshaw Karen
- Smallwood Andrew
- Smee Joanna
- Smit Albertine
- Smith Alex
- Smith Catherine
- Smith Eleanor
- Smith Emma
- Smith John
- Smith Judith
- Smith Julie
- Smith Kerry
- Smith Lucie
- Smith Matthew
- Smith Natalie
- Smith Oliver
- Smith Paul
- Smith Simon
- Smith Tim
- Smuts Sara
- Smyth Kirsty
- Smyth Michelle
- Smyth Naoise
- Soar Natalie
- Solesbury Amanda
- Somerville Alastair
- Song Rima
- Soukup Jens
- Southern David
- Southin Sara
- Spain Sandra
- Speight Holly
- Spencer Kayleigh
- Spencer Stephen
- Spencer Thomas
- Speyer Rebecca
- Spiers Catriona
- Spittle Nick
- Spivey Michael
- Spong Adam
- Sprinckmoller Stefan
- Squires Rebecca
- Stambaugh Martha
- Stammers Katie
- Stanciu Delia
- Stanley Timothy
- Stanworth Simon
- Stapleton Liana
- Starke Lisa
- Stavor Dara
- Stedman Roger
- Steffen Melanie
- Stephanie Gelinotte
- Stephens Deanna
- Stevenson Lesley
- Stewart Richard
- Stienstra Riejanne
- Stone Sarah
- Stowe Bethan
- Stratton Emma
- Stronach Lucy
- Suber Tomeka
- Sukuraman Anila
- Summerfield Anna
- Summers Charlotte
- Sundaram Radha
- Sundaran Dhinesh
- Sunkara Krishna
- Surti Zuhra
- Sutherland Helen
- Sutherland Sara-Beth
- Sutterlin Laetitia
- Sutton Joanne
- Sutu Mihaela
- Sven?ek Franc
- Svit?kar Nikolai
- Swabe Jacqueline
- Sweet Katie
- Sy Eric
- Szakmany Tamas
- Szawarski Piotr
- Tai Charlotte
- Tait Jennifer
- Talia Nadine
- Tallott Mandy
- Tamm Tina
- Tamme Kadri
- Taqdees Huda
- Tarr Esther
- Tate Margaret
- Tatham Kate
- Tavares Silvia
- Taylor Holly
- Taylor Melanie
- Taylor Sian
- Tee Ameila
- Templeton Maie
- Teo Hoon
- Terrill Lenae
- The Stephanie
- Thedinga Karen
- Thomas Amy
- Thomas Ashly
- Thomas Emma
- Thomas Helen
- Thomas Matt
- Thomas Vicky
- Thompson Patricia
- Thompson Taylor
- Thomson Nicola
- Thrush Jessica
- Thurairatnam Saranya
- Tierney Carey
- Tinmouth Alan
- Tirot Patrice
- Tlayjeh Haytham
- Toffalo Sue
- Tolppa Timo
- Tomasi Enrico
- Tomlinson Helen
- Tong Steve
- Tong Steven
- Tony Kiran
- Totzke Juliane
- Touma Omar
- Towns Miriam
- Trapani Tony
- Trask Kara
- Traverse Eleanor
- Trickey Jemma
- Trim Fiona
- Trimmer Ken
- Triulzi Darrell
- Troeman Darren
- Trues Estefania
- Truman Nicholas
- Tsakiridou Kyriaki
- Tsang Jennifer
- Tsinaslanidis Georgios
- Tuckwell Caroline
- Tully Redmond
- Tully Riona
- Tung Raymond
- Tupper-Carey Daryl
- Turgeon Alexis F.
- Turki Salah
- Turner Anne M.
- Turner Elizabeth
- Turner Keri
- Turner-Bone Ian
- Turns Margaret
- TV Bharath
- Udayanga Ishara
- Uddin Ruzena
- Udy Andrew
- Ullmann Hannah
- Umrani Zulfiqar
- Unsworth Adam
- Uriel Alison
- Ustianowski Andrew
- Uyeki Tim
- Vaara Suvi
- Vaduganathan Muthiah
- Vahtera Annukka
- Vale Cassandra
- Valentine Eliza
- Vamplew Luke
- van Amerongen Roosmarijn
- van Bentum-Puijk Wilma
- van Bree Sjoerd
- van de Veerdonk Frank L.
- van den Berg Lettie
- van den Oever Huub
- van der Eng Hetty
- Van Der Heyden Kymbalee
- van der Kraan-Donker Annemarie
- van Gulik Laura
- van Haren Frank
- Van Hecke Jolien
- van Kimmenade Roland
- van Nieuwkoop Kees
- van Zanten Arthur
- van Zuylen Tamara
- Van?t Hoff William
- Vandewoestyne Sophie
- Vanjak Christian
- Vanmali Piyush
- van Opdorp Marjolein
- van Vonderen Marit
- Vargas Jr. Jesus
- Varghese Siby
- Vautier Sarah
- Vazquez-Grande Gloria
- Veenith Tonny
- Veillard Marion
- Venkatesh Bala
- Verlander Mark
- Vermassen Joris
- Vermeiren Daisy
- Vermont - van der Staaij Janine
- Verrier Nathalie
- Vertue Mark
- Verula Jerik
- Victor Saji
- Viehman Alex
- Vieillard-Baron Antoine
- Vignesh C
- Villot Solenne
- Vilá Clara
- Vincent Rachel
- Virdee Satwinder
- Visentin Elisa
- Visser Yorik
- Vita Tina
- Vivier Dominique
- Vodovar Dominique
- Voicu Sebastian
- Voigt Ingo
- Voiriot Guillaume
- Volkov Lev
- Voza Gennaro
- Vuylsteke Alain
- Wada Asako
- Waddington Natalia
- Wahl Nadine
- Waite Alicia
- Walden Andrew
- Walker Gena
- Walker Rachel
- Walker Susan
- Walsh Joanne
- Walsh Tim
- Walsham James
- Walton Catherine
- Wang Shu
- Ward Geraldine
- Ward Kathryn
- Ward Luke
- Warnapura Loku
- Warnock Majella
- Watchorn Olivia
- Waters Abby
- Waterson Sharon
- Watkins Claire
- Watpool Irene
- Watters Malcolm
- Watts Angela
- Waugh Victoria
- Webb Steve A.
- Weber Lisa
- Webster Denise
- Weerasinghe Thanuja
- Weismann Dirk
- Weiss Daniel
- Weissman Alexandra
- Wells Alan
- Wells Colin
- Wells Karen
- Welters Ingeborg
- West Lauren
- Westlake Samantha
- Wetherill Bill
- Wetzold Richard
- Whileman Amanda
- Whitbread Jennifer
- White Alison
- White Hayden
- White Ian
- White Katie
- Whitehead Christina
- Whitehouse Tony
- Wibrow Bradley
- Wigbers Jeanette
- Wijewardena Gayathri
- Wilby Elizabeth
- Wilcox Elizabeth
- Wilcox Louise
- Wild Helen
- Wild Laura
- Wilding Laura
- Wiles Matt
- Wiley Daisy
- Wilhelmsen Elva
- Wilkinson Dean
- Willams Felicity
- Williams Alexandra
- Williams Angharad
- Williams Anna
- Williams Erin
- Williams Gemma
- Williams Hannah
- Williams Karen
- Williams Marie
- Williams Patricia
- Williams Penny
- Williams Tony
- Williams Virginie
- Williamson Dawn
- Williamson James D
- Willis Joanna
- Willson Jayne
- Wilson Anna
- Wilson Craig
- Wilson Jean
- Wilson Maggie
- Winters James
- Winters Lauren
- Wise Matt
- Wisniewski Mary
- Wittekamp Bastiaan
- Wittenberg Wendy
- Wnuk Chris
- Woelke Amy
- Wong Jenny
- Wong Onyee
- Wood Erica
- Wood Hannah
- Wood Tracy
- Woods Jane
- Woods Lindsey
- Woodward Robert
- Woolett Melissa
- Worner Ruth
- Wren Jess
- Wren Lynn
- Wrey Brown Caroline
- Wright Chris
- Wright Kim
- Wunderley Renee
- Wyatt Rachel
- Wylie Katharine
- Xavier Kugan
- Yamagishi Yoshiaki
- Yamashita Chizuru
- Yang Yang
- Yarad Elizabeth
- Yates Bryan
- Yates David
- Yealy Donald
- Young Ian
- Young Meredith
- Young Paul
- Youngstein Taryn
- Yu Haili
- Yusuff Hakeem
- Zaharia Mihaela
- Zaidi Abbas
- Zaki Ahmed
- Zaman Mohsin
- Zarychanski Ryan
- Zdanavidiene Ausra
- Zhao Xiao
- Zinzoni Vanessa
- Zitter Letizia
- Zouita Louisa
- Publication venue
- 'American Medical Association (AMA)'
- Publication date
- 11/04/2023
- Field of study
IMPORTANCE Overactivation of the renin-angiotensin system (RAS) may contribute to poor clinical outcomes in patients with COVID-19.
Objective To determine whether angiotensin-converting enzyme (ACE) inhibitor or angiotensin receptor blocker (ARB) initiation improves outcomes in patients hospitalized for COVID-19.
DESIGN, SETTING, AND PARTICIPANTS In an ongoing, adaptive platform randomized clinical trial, 721 critically ill and 58 non–critically ill hospitalized adults were randomized to receive an RAS inhibitor or control between March 16, 2021, and February 25, 2022, at 69 sites in 7 countries (final follow-up on June 1, 2022).
INTERVENTIONS Patients were randomized to receive open-label initiation of an ACE inhibitor (n = 257), ARB (n = 248), ARB in combination with DMX-200 (a chemokine receptor-2 inhibitor; n = 10), or no RAS inhibitor (control; n = 264) for up to 10 days.
MAIN OUTCOMES AND MEASURES The primary outcome was organ support–free days, a composite of hospital survival and days alive without cardiovascular or respiratory organ support through 21 days. The primary analysis was a bayesian cumulative logistic model. Odds ratios (ORs) greater than 1 represent improved outcomes.
RESULTS On February 25, 2022, enrollment was discontinued due to safety concerns. Among 679 critically ill patients with available primary outcome data, the median age was 56 years and 239 participants (35.2%) were women. Median (IQR) organ support–free days among critically ill patients was 10 (–1 to 16) in the ACE inhibitor group (n = 231), 8 (–1 to 17) in the ARB group (n = 217), and 12 (0 to 17) in the control group (n = 231) (median adjusted odds ratios of 0.77 [95% bayesian credible interval, 0.58-1.06] for improvement for ACE inhibitor and 0.76 [95% credible interval, 0.56-1.05] for ARB compared with control). The posterior probabilities that ACE inhibitors and ARBs worsened organ support–free days compared with control were 94.9% and 95.4%, respectively. Hospital survival occurred in 166 of 231 critically ill participants (71.9%) in the ACE inhibitor group, 152 of 217 (70.0%) in the ARB group, and 182 of 231 (78.8%) in the control group (posterior probabilities that ACE inhibitor and ARB worsened hospital survival compared with control were 95.3% and 98.1%, respectively).
CONCLUSIONS AND RELEVANCE In this trial, among critically ill adults with COVID-19, initiation of an ACE inhibitor or ARB did not improve, and likely worsened, clinical outcomes.
TRIAL REGISTRATION ClinicalTrials.gov Identifier: NCT0273570
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
- Author
- Adams Hieab
- Afenjar Alexandra
- Amorós Rodríguez María Inmaculada
- Anderson Emily
- Aracena Alvarez Mariana Inés
- Bacchelli Elena
- Banka Siddharth
- Bertoli Marta
- Besnard Thomas
- Boles Richard
- Bouman Arianne
- Breault David
- Brischoux-Boucher Elise
- Brittain Helen
- Brunner Han G
- Byers Heather
- Caluseriu Oana
- Ceroni Fabiola
- Choufani Sanaa
- Coffino Samantha
- Cogné Benjamin
- Coudert Alicia
- Dabir Tabib
- Delahaye-Duriez Andree
- Diets Illja J
- Dingemans Alexander J M
- Donoghue Sarah
- Faundes Victor
- Foulds Nicola
- Frazier Zoe
- Gerkes Erica H
- Giltay Jacques C
- Giovanna Traficante
- Giulia Gori
- Gooch Catherine
- Guimier Anne
- Ha-Vinh Leuchter Russia
- Harris Jacqueline
- Hendriks Yvonne
- Jacquemont Sébastien
- Jain Vani
- Jewell Rosalyn
- Jizi Khadijé
- Jones Elizabeth A
- Josephi-Taylor Sarah
- Joss Shelagh
- Kambouris Marios
- Kaziyev Jonah
- Kennis Milou G P
- Keren Boris
- Kinning Esther
- Kleefstra Tjitske
- Kremen Jessica
- Kroes Hester Y
- Leslie Nancy
- Lewis Suzanne M E
- Maestrini Elena
- Marey Isabelle
- Marijon Pierre
- Mazzola Sarah
- McDougall Carey
- Mellado Cecilia
- Mendelsohn Bryce A
- Motter Constance S
- Nair Sreelata
- Nizon Mathilde
- O'Donnell-Luria Anne
- O'Leary Melanie
- Ockeloen Charlotte W
- Ortigoza-Escobar Juan Dario
- Osika Hailey
- Pais Lynn
- Park Soo-Mi
- Pfundt Rolph
- Posar Annio
- Quteineh Lina
- Ravenswaaij-Arts Conny M A van
- Roifman Maian
- Rots Dmitrijs
- Rutten Julie W
- Shen Joseph J
- Simpson Brittany N
- Sinnema Margje
- Srivastava Siddharth
- Stewart Sarah
- Stumpel Constance T R M
- Thauvin-Robinet Christel
- Tiller George E
- Valivullah Zaheer
- Vasudevan Pradeep
- Vera Moin
- Vernimmen Vivian
- Vernon Hilary J
- Viggiano Marta
- Vincent Marie
- Visconti Paola
- Vissers Lisenka E L M
- Vries Bert B A de
- Weksberg Rosanna
- Zackai Elaine H
- Zonneveld-Huijssoon Evelien
- Publication venue
- Publication date
- 09/07/2024
- Field of study
Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spectrums of the KMT2C-related NDD (now designated as Kleefstra syndrome 2) are largely unknown. We ascertained 98 individuals with rare KMT2C variants, including 75 with protein-truncating variants (PTVs). Notably, ∼15% of KMT2C PTVs were inherited. Although the most highly expressed KMT2C transcript consists of only the last four exons, pathogenic PTVs were found in almost all the exons of this large gene. KMT2C variant interpretation can be challenging due to segmental duplications and clonal hematopoesis-induced artifacts. Using samples from 27 affected individuals, divided into discovery and validation cohorts, we generated a moderate strength disorder-specific KMT2C DNA methylation (DNAm) signature and demonstrate its utility in classifying non-truncating variants. Based on 81 individuals with pathogenic/likely pathogenic variants, we demonstrate that the KMT2C-related NDD is characterized by developmental delay, intellectual disability, behavioral and psychiatric problems, hypotonia, seizures, short stature, and other comorbidities. The facial module of PhenoScore, applied to photographs of 34 affected individuals, reveals that the KMT2C-related facial gestalt is significantly different from the general NDD population. Finally, using PhenoScore and DNAm signatures, we demonstrate that the KMT2C-related NDD is clinically and epigenetically distinct from Kleefstra and Kabuki syndromes. Overall, we define the clinical features, molecular spectrum, and DNAm signature of the KMT2C-related NDD and demonstrate they are distinct from Kleefstra and Kabuki syndromes highlighting the need to rename this condition.</p
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
- Author
- A. de Burca
- A. Devereau
- A. Rendon
- A. Siddiq
- A. Sieghart
- A. Sosinsky
- A. Stuckey
- A. Tucci
- A.C. Need
- Abdul Haseeb
- Ales Maver
- Alexandre Arkader
- Allyn McConkie-Rosell
- Alma Kuechler
- Alvaro Serrano Russi
- Amber Begtrup
- Andrew O.M. Wilkie
- Angelozzi
- Anne C.H. Tsai
- Azim
- Barbara Mikat
- Bastian
- Batista-Brito
- Benjamin Cogné
- Berta
- Bertrand Isidor
- Bienert
- Boris Keren
- Brigitte Gilbert-Dussardier
- Bryan L. Krock
- C. Patch
- C. Tregidgo
- C.A. Odhams
- C.E.H. Craig
- C.R. Boustred
- Cara Forster
- Charles Coutton
- Chassaing
- Christel Depienne
- Claudia Ruivenkamp
- Cohen-Barak
- Cédric Le Caignec
- D. Halai
- D. Kasperaviciute
- D. Perez-Gil
- D. Polychronopoulos
- D. Smedley
- Damara Ortiz
- Damien Haye
- Dara Tolchin
- Dominique Martin-Coignard
- Dong
- Dumitriu
- E. Walsh
- E. Williams
- E.M. McDonagh
- E.R.A. Thomas
- Ebrahimi-Fakhari
- Eduardo Calpena
- Elizabeth T. DeChene
- Emily Lancaster
- F. Boardman-Pretty
- F. Maleady-Crowe
- F.J. Lopez
- Frederic Bilan
- G. Elgar
- G.C. Chan
- G.W.E. Santen
- Ganesh
- Giada Melistaccio
- Gubbay
- Guo
- Gwenael Le Guyader
- H.E. Stevens
- Han
- Haseeb
- Hempel
- Hermann-Josef Ludecke
- Hilde Van Esch
- I.U.S. Leong
- Ian D. Krantz
- Iguchi
- J. Mason
- J. Pullinger
- J.C. Ambrose
- J.E. Holman
- J.M. Boissiere
- J.M. Hackett
- Jessica P. Yeager
- Ji
- Julian A. Martinez-Agosto
- Julien Thevenon
- K. Lawson
- K. Savage
- K. Witkowska
- K.R. Smith
- Kamachi
- Kashimada
- Kieran B. Pechter
- L. Lahnstein
- L. Moutsianas
- L.C. Daugherty
- Lamb
- Lamiable
- Lefebvre
- Lefebvre
- Lek
- Liesbeth Keldermans
- Lindsay B. Henderson
- Liu
- Liu
- Livija Medne
- Lynn
- M. Bleda
- M. Kayikci
- M. Mueller
- M. Ryten
- M. Zarowiecki
- M.J. Caulfield
- M.J. Welland
- Marco Angelozzi
- Marie T. McDonald
- Mathilde Nizon
- Meyer
- Miller
- Mohnish Suri
- Naghmeh Dorrani
- Nicola Foulds
- Olivier Pichon
- P. Furió-Tarí
- Panman
- Patrick Reed
- Pauline Le Tanno
- Philibert
- Pingault
- Priya Prasad
- Qin
- Qiu
- Quiat
- R.E. Foulger
- R.H. Scott
- Radka Stoeva
- Rudolf Gorazd
- Rudrabhatla
- S.A. Watters
- S.E.A. Leigh
- S.M. Wood
- S.R. Thompson
- Saadet Mercimek-Andrews
- Sarah Stewart
- Scherer
- Schlierf
- Scott
- Sinclair
- Sluijter
- Smits
- Solveig Heide
- Stolt
- T. Fowler
- T. Rahim
- T. Rogers
- T.J.P. Hubbard
- Tagariello
- Tsurusaki
- Venselaar
- Véronique Lefebvre
- W. Spooner
- Wang
- Xie
- Yang
- Zawerton
- Zawerton
- Zhu
- Publication venue
- 'Elsevier BV'
- Publication date
- 04/06/2020
- Field of study
SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes have been shown to cause severe developmental and adult syndromes, referred to as SOXopathies. We here provide evidence that SOX6 variants also cause a SOXopathy. Using clinical and genetic data, we identify 19 individuals harboring various types of SOX6 alterations and exhibiting developmental delay and/or intellectual disability; the individuals are from 17 unrelated families. Additional, inconstant features include attention-deficit/hyperactivity disorder (ADHD), autism, mild facial dysmorphism, craniosynostosis, and multiple osteochondromas. All variants are heterozygous. Fourteen are de novo, one is inherited from a mosaic father, and four offspring from two families have a paternally inherited variant. Intragenic microdeletions, balanced structural rearrangements, frameshifts, and nonsense variants are predicted to inactivate the SOX6 variant allele. Four missense variants occur in residues and protein regions highly conserved evolutionarily. These variants are not detected in the gnomAD control cohort, and the amino acid substitutions are predicted to be damaging. Two of these variants are located in the HMG domain and abolish SOX6 transcriptional activity in vitro. No clear genotype-phenotype correlations are found. Taken together, these findings concur that SOX6 haploinsufficiency leads to a neurodevelopmental SOXopathy that often includes ADHD and abnormal skeletal and other features
Improved measurement of CP violation parameters in Bs0→J/ψK+K− decays in the vicinity of the ϕ(1020) resonance
- Author
- Aaij Roel
- Aaij Roel
- Abdelmotteleb Ahmed Sameh Wagih
- Abdelmotteleb Ahmed Sameh Wagih
- Abellan Beteta Carlos
- Abellan Beteta Carlos
- Abudinén Fernando Jesus
- Abudinén Fernando Jesus
- Ackernley Thomas
- Ackernley Thomas
- Adeva Bernardo
- Adeva Bernardo
- Adinolfi Marco
- Adinolfi Marco
- Adlarson Patrik Harri
- Adlarson Patrik Harri
- Afsharnia Hossein
- Afsharnia Hossein
- Agapopoulou Christina
- Agapopoulou Christina
- Aidala Christine Angela
- Aidala Christine Angela
- Ajaltouni Ziad
- Ajaltouni Ziad
- Akar Simon
- Akar Simon
- Akiba Kazuyoshi
- Akiba Kazuyoshi
- Albicocco Pietro
- Albicocco Pietro
- Albrecht Johannes
- Albrecht Johannes
- Alessio Federico
- Alessio Federico
- Alexander Michael
- Alexander Michael
- Alfonso Albero Alejandro
- Alfonso Albero Alejandro
- Aliouche Zakariya
- Aliouche Zakariya
- Alvarez Cartelle Paula
- Alvarez Cartelle Paula
- Amalric Renaud
- Amalric Renaud
- Amato Sandra
- Amato Sandra
- Amey Jake Lewis
- Amey Jake Lewis
- Amhis Yasmine
- Amhis Yasmine
- An Liupan
- An Liupan
- Anderlini Lucio
- Anderlini Lucio
- Andersson Martin
- Andersson Martin
- Andreianov Aleksei
- Andreianov Aleksei
- Andreola Pasquale
- Andreola Pasquale
- Andreotti Mirco
- Andreotti Mirco
- Andreou Dimitra
- Andreou Dimitra
- Ao Dong
- Ao Dong
- Archilli Flavio
- Archilli Flavio
- Artamonov Alexander
- Artamonov Alexander
- Artuso Marina
- Artuso Marina
- Aslanides Elie
- Aslanides Elie
- Atzeni Michele
- Atzeni Michele
- Audurier Benjamin
- Audurier Benjamin
- Bacher David
- Bacher David
- Bachiller Perea Irene
- Bachiller Perea Irene
- Bachmann Sebastian
- Bachmann Sebastian
- Bachmayer Marie
- Bachmayer Marie
- Back John
- Back John
- Bailly-reyre Aurelien
- Bailly-reyre Aurelien
- Baladron Rodriguez Pablo
- Baladron Rodriguez Pablo
- Balagura Vladislav
- Balagura Vladislav
- Baldini Wander
- Baldini Wander
- Baptista de Souza Leite Juan
- Baptista de Souza Leite Juan
- Barbetti Matteo
- Barbetti Matteo
- Barbosa Ivanildo Rui
- Barbosa Ivanildo Rui
- Barlow Roger
- Barlow Roger
- Barsuk Sergey
- Barsuk Sergey
- Barter William
- Barter William
- Bartolini Matteo
- Bartolini Matteo
- Baryshnikov Fedor
- Baryshnikov Fedor
- Basels Jan-Marc
- Basels Jan-Marc
- Bassi Giovanni
- Bassi Giovanni
- Batsukh Baasansuren
- Batsukh Baasansuren
- Battig Alexander
- Battig Alexander
- Bay Aurelio
- Bay Aurelio
- Beck Anja
- Beck Anja
- Becker Maik
- Becker Maik
- Bedeschi Franco
- Bedeschi Franco
- Bediaga Ignacio
- Bediaga Ignacio
- Beiter Andrew
- Beiter Andrew
- Belin Samuel
- Belin Samuel
- Bellee Violaine
- Bellee Violaine
- Belous Konstantin
- Belous Konstantin
- Belov Ilia
- Belov Ilia
- Belyaev Ivan
- Belyaev Ivan
- Ben-Haim Eli
- Ben-Haim Eli
- Benane Gaya
- Benane Gaya
- Bencivenni Giovanni
- Bencivenni Giovanni
- Berezhnoy Alexander
- Berezhnoy Alexander
- Bernet Andres Sergi
- Bernet Andres Sergi
- Bernet Roland
- Bernet Roland
- Berninghoff Daniel
- Berninghoff Daniel
- Bernstein Harris Conan
- Bernstein Harris Conan
- Bertella Claudia
- Bertella Claudia
- Bertolin Alessandro
- Bertolin Alessandro
- Betancourt Christopher
- Betancourt Christopher
- Betti Federico
- Betti Federico
- Bex Josh
- Bex Josh
- Bezshyiko Iaroslava
- Bezshyiko Iaroslava
- Bhom Jihyun
- Bhom Jihyun
- Bian Lingzhu
- Bian Lingzhu
- Bieker Martin Stefan
- Bieker Martin Stefan
- Biesuz Nicolo Vladi
- Biesuz Nicolo Vladi
- Billoir Pierre
- Billoir Pierre
- Biolchini Alice
- Biolchini Alice
- Birch Matthew
- Birch Matthew
- Bishop Fionn Caitlin Ros
- Bishop Fionn Caitlin Ros
- Bitadze Alexander
- Bitadze Alexander
- Bizzeti Andrea
- Bizzeti Andrea
- Blago Michele Piero
- Blago Michele Piero
- Blake Thomas
- Blake Thomas
- Blanc Frederic
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- Blank Jonah Evan
- Blank Jonah Evan
- Blusk Steven
- Blusk Steven
- Bobulska Dana
- Bobulska Dana
- Bocharnikov Vladimir
- Bocharnikov Vladimir
- Boelhauve Julian Alexander
- Boelhauve Julian Alexander
- Boente Garcia Oscar
- Boente Garcia Oscar
- Boettcher Thomas
- Boettcher Thomas
- Bohare Abhishek
- Bohare Abhishek
- Boldyrev Alexey
- Boldyrev Alexey
- Bolognani Carolina
- Bolognani Carolina
- Bolzonella Riccardo
- Bolzonella Riccardo
- Bondar Nikolay
- Bondar Nikolay
- Borgato Federica
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- Borghi Silvia
- Borghi Silvia
- Borsato Martino
- Borsato Martino
- Borsuk Jozef Tomasz
- Borsuk Jozef Tomasz
- Bouchiba Sonia Amina
- Bouchiba Sonia Amina
- Bowcock Themistocles
- Bowcock Themistocles
- Boyer Alexandre
- Boyer Alexandre
- Bozzi Concezio
- Bozzi Concezio
- Bradley Matthew John
- Bradley Matthew John
- Braun Svende
- Braun Svende
- Brea Rodriguez Alexandre
- Brea Rodriguez Alexandre
- Breer Nils
- Breer Nils
- Brodzicka Jolanta
- Brodzicka Jolanta
- Brossa Gonzalo Arnau
- Brossa Gonzalo Arnau
- Brown James David
- Brown James David
- Brundu Davide
- Brundu Davide
- Buonaura Annarita
- Buonaura Annarita
- Buonincontri Laura
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- Burke Aodhan Tomas
- Burke Aodhan Tomas
- Burr Christopher
- Burr Christopher
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- Bursche Albert
- Butkevich Anatoly
- Butkevich Anatoly
- Butter Jordy Sebastiaan
- Butter Jordy Sebastiaan
- Buytaert Jan
- Buytaert Jan
- Byczynski Wiktor
- Byczynski Wiktor
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- Cadeddu Sandro
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- Calefice Lukas
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- Cali Stefano
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- Calvo Gomez Miriam
- Cambon Bouzas Jose Ivan
- Cambon Bouzas Jose Ivan
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- Campoverde Quezada Angel Fernando
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- Capriotti Lorenzo
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- Carcedo Salgado Lidia
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- Cervenkov Daniel
- Cervenkov Daniel
- Chadwick Abbie Jane
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- Chahrour Ibrahim
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- Chapman Matthew George
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- Chen Chen
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- Chen Shanzhen
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- Cruz Torres Melissa Maria
- Cruz Torres Melissa Maria
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- d'Argent Philippe
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- Dadabaev Shakhzod
- Dai Lingyun
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- De Aguiar Francisco Oscar
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- de Boer Jan
- de Boer Jan
- De Bruyn Kristof
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- De Capua Stefano
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- De Cian Michel
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- De Freitas Carneiro Da Graca Ulisses
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- De Lucia Erika
- De Lucia Erika
- De Miranda Jussara
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- De Serio Marilisa
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- de Vries Jacco
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- Del Buono Luigi
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- Dey Biplab
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- Egede Ulrik
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- Ferro-Luzzi Massimiliano
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- Fiorini Massimiliano
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- Fischer Kamil Leszek
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- Fleuret Frederic
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- Foreman Lucas Arthur
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- Forty Roger
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- Foulds-Holt Daniel
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- Franco Sevilla Manuel
- Franco Sevilla Manuel
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- Garcia Martin Luis Miguel
- Garcia Moreno Paula
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- Garcia Plana Beatriz
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- Garcia Rosales Felipe Andres
- García Pardiñas Julián
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- Gerken Louis Lenard
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- Gershon Timothy
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- Gibson Valerie
- Gibson Valerie
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- Gioventù Alessandra
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- Gizdov Konstantin
- Gkougkousis Evangelos Leonidas
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- Glaser Fabian Christoph
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- Golobardes Elisabet
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- Gorelov Igor Vladimirovich
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- Gotti Claudio
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- Granado Cardoso Luis Alberto
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- Guseinov Abdul-Kerim
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- Guz Yury
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- Gys Thierry
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- Hadavizadeh Thomas
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- Haefeli Guido
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- Haen Christophe
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- Haimberger Jakob
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- Haines Susan
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- Hajheidari Mohammadtaghi
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- Halewood-leagas Tabitha
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- Halvorsen Marius Maehlum
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- Hamilton Phoebe Meredith
- Hamilton Phoebe Meredith
- Hammerich Jan
- Hammerich Jan
- Han Qundong
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- Han Xiaoxue
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- Hansmann-Menzemer Stephanie
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- Hao Lei
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- Harrison Thomas
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- Hartmann Marie
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- Hasse Christoph
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- Hatch Mark
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- He Jibo
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- Heijhoff Kevin
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- Hemmer Frederic
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- Henderson Conor
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- Henderson Riley Dylan Leslie
- Henderson Riley Dylan Leslie
- Hennequin Arthur Marius
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- Hennessy Karol
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- Henry Louis
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- Herd James Daniel
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- Heuel Johannes
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- Hicheur Adlène
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- Hill Donal
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- Horswill Joshua Ethan
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- Hou Ruiwen
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- Howarth Ned Francis
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- Hu Jiangqiao
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- Hu Wenhua
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- Hu Xiaofan
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- Huang Xiaotao
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- Hulsbergen Wouter
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- Hunter Ross John
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- Hushchyn Mikhail
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- Hutchcroft David
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- Ibis Philipp
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- Idzik Marek
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- Ilin Dmitrii
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- Ilten Philip
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- Inglessi Alexander
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- Iniukhin Aleksandr
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- Ishteev Artur
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- Ivshin Kuzma
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- Jacobsson Richard
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- Jage Hendrik
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- Jaimes Elles Sergio Javier
- Jaimes Elles Sergio Javier
- Jakobsen Sune
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- Jans Eddy
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- Jashal Brij Kishor
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- Jawahery Abolhassan
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- Jevtic Vukan
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- Jiang Emily Kaiyin
- Jiang Emily Kaiyin
- Jiang Xiaojie
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- Jiang Yi
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- John Malcolm
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- Joshi Salil
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- Jost Beat
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- Jurik Nathan
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- Juszczak Izabela
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- Kaminaris Dimitrios
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- Kandybei Sergii
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- Kang Youen
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- Karacson Matthias
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- Karpenkov Dmitrii
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- Karpov Maksim
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- Kauniskangas Anni Matilda
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- Kautz Jacob William
- Kautz Jacob William
- Keizer Floris
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- Keller Dustin Michael
- Keller Dustin Michael
- Kenzie Matthew
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- Ketel Tjeerd
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- Khanji Basem
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- Kharisova Anastasiia
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- Kholodenko Sergei
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- Khreich Gaelle
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- Kirn Thomas
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- Kirsebom Veronica Soelund
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- Kitouni Ouail
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- Kleijne Nico
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- Klimaszewski Konrad
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- Kmiec Mateusz Rafal
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- Kolk Lars
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- Konoplyannikov Anatoly
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- Kopciewicz Pawel
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- Korolev Mikhail
- Korolev Mikhail
- Kostiuk Igor
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- Kot Oleksander
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- Kotriakhova Sofia
- Kotriakhova Sofia
- Kozachuk Anastasiia
- Kozachuk Anastasiia
- Kravchenko Polina
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- Kravchuk Leonid
- Kravchuk Leonid
- Kreps Michal
- Kreps Michal
- Kretzschmar Sophie Katharina
- Kretzschmar Sophie Katharina
- Krokovny Pavel
- Krokovny Pavel
- Krupa Wojciech
- Krupa Wojciech
- Krzemien Wojciech
- Krzemien Wojciech
- Kubat Jakub
- Kubat Jakub
- Kubis Sebastian Antoni
- Kubis Sebastian Antoni
- Kucewicz Wojciech
- Kucewicz Wojciech
- Kucharczyk Marcin
- Kucharczyk Marcin
- Kudryavtsev Vasily
- Kudryavtsev Vasily
- Kulikova Evgenia
- Kulikova Evgenia
- Kupsc Andrzej
- Kupsc Andrzej
- Kutsenko Bogdan
- Kutsenko Bogdan
- Lacarrere Daniel
- Lacarrere Daniel
- Lafferty George
- Lafferty George
- Lai Adriano
- Lai Adriano
- Lampis Andrea
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- Lancierini Davide
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- Landesa Gomez Clara
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- Lane John Jake
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- Lane Richard
- Lane Richard
- Langenbruch Christoph
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- Langer Jan
- Langer Jan
- Lantwin Oliver
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- Latham Thomas
- Latham Thomas
- Lazzari Federico
- Lazzari Federico
- Lazzeroni Cristina
- Lazzeroni Cristina
- Le Gac Renaud
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- Lee Sook Hyun
- Lee Sook Hyun
- Leflat Alexander
- Leflat Alexander
- Lefèvre Regis
- Lefèvre Regis
- Legotin Sergey
- Legotin Sergey
- Leroy Olivier
- Leroy Olivier
- Lesiak Tadeusz
- Lesiak Tadeusz
- Leverington Blake
- Leverington Blake
- Li Anfeng
- Li Anfeng
- Li Hengne
- Li Hengne
- Li Kechen
- Li Kechen
- Li Lanxing
- Li Lanxing
- Li Pei-Rong
- Li Pei-Rong
- Li Peilian
- Li Peilian
- Li Shiyang
- Li Shiyang
- Li Tiange
- Li Tiange
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- Li Tianqi
- Li Yiming
- Li Yiming
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- Li Zhuoming
- Lian Zhengchen
- Lian Zhengchen
- Liang Xixin
- Liang Xixin
- Lin Chuangxin
- Lin Chuangxin
- Lin Tai-hua
- Lin Tai-hua
- Lindner Rolf
- Lindner Rolf
- Lisovskyi Vitalii
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- Litvinov Roman
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- Liu Guoming
- Liu Guoming
- Liu Huanhuan
- Liu Huanhuan
- Liu Kai
- Liu Kai
- Liu Qian
- Liu Qian
- Liu Shuaiyi
- Liu Shuaiyi
- Liu Yiming
- Liu Yiming
- Liu Ying
- Liu Ying
- Lobo Salvia Aniol
- Lobo Salvia Aniol
- Loi Angelo
- Loi Angelo
- Lomba Castro Julian
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- Long Thomas
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- Longstaff Iain
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- Lopes Jose
- Lopes Jose
- Lopez Huertas Albert
- Lopez Huertas Albert
- Lovell George Holger
- Lovell George Holger
- Lu Yu
- Lu Yu
- Lucarelli Chiara
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- Luchuk Stanislav
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- Lucio Martinez Miriam
- Lucio Martinez Miriam
- Lukashenko Valeriia
- Lukashenko Valeriia
- Luo Yiheng
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- Lupato Anna
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- Luppi Eleonora
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- Lynch Kate
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- Lyu Xiao-Rui
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- López Soliño Saúl
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- Ma Ruiting
- Ma Ruiting
- Maccolini Serena
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- Machefert Frederic
- Machefert Frederic
- Maciuc Florin
- Maciuc Florin
- Mackay Innes
- Mackay Innes
- Madhan Mohan Lakshan Ram
- Madhan Mohan Lakshan Ram
- Madurai Marcus Jonathan
- Madurai Marcus Jonathan
- Maevskiy Artem
- Maevskiy Artem
- Magdalinski Daniel
- Magdalinski Daniel
- Maisuzenko Dmitrii
- Maisuzenko Dmitrii
- Majewski Maciej Witold
- Majewski Maciej Witold
- Malczewski Jakub Jacek
- Malczewski Jakub Jacek
- Malde Sneha
- Malde Sneha
- Malecki Bartosz
- Malecki Bartosz
- Malentacca Lorenzo
- Malentacca Lorenzo
- Malinin Alexander
- Malinin Alexander
- Maltsev Timofei
- Maltsev Timofei
- Manca Giulia
- Manca Giulia
- Mancinelli Giampiero
- Mancinelli Giampiero
- Mancuso Chiara
- Mancuso Chiara
- Manera Escalero Rafel
- Manera Escalero Rafel
- Manuzzi Daniele
- Manuzzi Daniele
- Manzari Claudio Andrea
- Manzari Claudio Andrea
- Marangotto Daniele
- Marangotto Daniele
- Marchand Jean François
- Marchand Jean François
- Marconi Umberto
- Marconi Umberto
- Mariani Saverio
- Mariani Saverio
- Marin Benito Carla
- Marin Benito Carla
- Marks Jörg
- Marks Jörg
- Marshall Alexander Mclean
- Marshall Alexander Mclean
- Marshall Phillip John
- Marshall Phillip John
- Martelli Gabriele
- Martelli Gabriele
- Martellotti Giuseppe
- Martellotti Giuseppe
- Martinazzoli Loris
- Martinazzoli Loris
- Martinelli Maurizio
- Martinelli Maurizio
- Martinez Santos Diego
- Martinez Santos Diego
- Martinez Vidal Fernando
- Martinez Vidal Fernando
- Massafferri André
- Massafferri André
- Materok Marcel
- Materok Marcel
- Matev Rosen
- Matev Rosen
- Mathad Abhijit
- Mathad Abhijit
- Matiunin Viacheslav
- Matiunin Viacheslav
- Matteuzzi Clara
- Matteuzzi Clara
- Mattioli Kara Renee
- Mattioli Kara Renee
- Mauri Andrea
- Mauri Andrea
- Maurice Emilie
- Maurice Emilie
- Mauricio Joan
- Mauricio Joan
- Mazurek Michal
- Mazurek Michal
- McCann Michael
- McCann Michael
- Mcconnell Lucas
- Mcconnell Lucas
- McGrath Tamaki Holly
- McGrath Tamaki Holly
- McHugh Niall Thomas
- McHugh Niall Thomas
- McNab Andrew
- McNab Andrew
- McNulty Ronan
- McNulty Ronan
- Meadows Brian
- Meadows Brian
- Meier Gerwin
- Meier Gerwin
- Melnychuk Dmytro
- Melnychuk Dmytro
- Merk Marcel
- Merk Marcel
- Merli Andrea
- Merli Andrea
- Meyer Garcia Lucas
- Meyer Garcia Lucas
- Miao Dexing
- Miao Dexing
- Miao Han
- Miao Han
- Mikhasenko Mikhail
- Mikhasenko Mikhail
- Milanes Diego Alejandro
- Milanes Diego Alejandro
- Minard Marie-Noelle
- Minard Marie-Noelle
- Minotti Alessandro
- Minotti Alessandro
- Minucci Elisa
- Minucci Elisa
- Miralles Tristan
- Miralles Tristan
- Mitchell Sara Elizabeth
- Mitchell Sara Elizabeth
- Mitreska Biljana
- Mitreska Biljana
- Mitzel Dominik Stefan
- Mitzel Dominik Stefan
- Modak Atanu
- Modak Atanu
- Mohammed Rizwaan Adeeb
- Mohammed Rizwaan Adeeb
- Moise Razvan-Daniel
- Moise Razvan-Daniel
- Mokhnenko Sergei
- Mokhnenko Sergei
- Mombächer Titus
- Mombächer Titus
- Monk Matthew David
- Monk Matthew David
- Monroy Igancio Alberto
- Monroy Igancio Alberto
- Monteil Stephane
- Monteil Stephane
- Morcillo Gomez Angel
- Morcillo Gomez Angel
- Morello Gianfranco
- Morello Gianfranco
- Morello Michael Joseph
- Morello Michael Joseph
- Morgenthaler Maurice Pierre
- Morgenthaler Maurice Pierre
- Moron Jakub
- Moron Jakub
- Morris Adam Benjamin
- Morris Adam Benjamin
- Morris Andrew George
- Morris Andrew George
- Mountain Raymond
- Mountain Raymond
- Mu Hongjie
- Mu Hongjie
- Mu Zeqing
- Mu Zeqing
- Muhammad Emir
- Muhammad Emir
- Muheim Franz
- Muheim Franz
- Mulder Mick
- Mulder Mick
- Murta Rebecca
- Murta Rebecca
- Mödden Antje
- Mödden Antje
- Müller Katharina
- Müller Katharina
- Mũnoz-Rojas Federico
- Mũnoz-Rojas Federico
- Naik Paras
- Naik Paras
- Nakada Tatsuya
- Nakada Tatsuya
- Nandakumar Raja
- Nandakumar Raja
- Nanut Tara
- Nanut Tara
- Nasteva Irina
- Nasteva Irina
- Needham Matthew
- Needham Matthew
- Neri Nicola
- Neri Nicola
- Neubert Sebastian
- Neubert Sebastian
- Neufeld Niko
- Neufeld Niko
- Neustroev Petr
- Neustroev Petr
- Newcombe Ryan
- Newcombe Ryan
- Nicolini Janina
- Nicolini Janina
- Nicotra Davide
- Nicotra Davide
- Niel Elisabeth Maria
- Niel Elisabeth Maria
- Nikitin Nikolay
- Nikitin Nikolay
- Nogga Piet
- Nogga Piet
- Nolte Niklas Stefan
- Nolte Niklas Stefan
- Normand Camille
- Normand Camille
- Novoa Fernandez Julio
- Novoa Fernandez Julio
- Nowak Gabriel Matthew
- Nowak Gabriel Matthew
- Nunez Cynthia
- Nunez Cynthia
- Nur Havva Hasret
- Nur Havva Hasret
- O'Neil Ryunosuke Hugo
- O'Neil Ryunosuke Hugo
- Oblakowska-Mucha Agnieszka
- Oblakowska-Mucha Agnieszka
- Obraztsov Vladimir
- Obraztsov Vladimir
- Oeser Thomas
- Oeser Thomas
- Okamura Shinichi
- Okamura Shinichi
- Oldeman Rudolf
- Oldeman Rudolf
- Oliva Federica
- Oliva Federica
- Olocco Micol
- Olocco Micol
- Onderwater Gerco
- Onderwater Gerco
- Otalora Goicochea Juan Martin
- Otalora Goicochea Juan Martin
- Ovsiannikova Tatiana
- Ovsiannikova Tatiana
- Owen Patrick
- Owen Patrick
- Oyanguren Maria Aranzazu
- Oyanguren Maria Aranzazu
- Ozcelik Ozlem
- Ozcelik Ozlem
- Padeken Klaas Ole
- Padeken Klaas Ole
- Pagare Bhagyashree
- Pagare Bhagyashree
- Pais Preema Rennee
- Pais Preema Rennee
- Pajero Tommaso
- Pajero Tommaso
- Palano Antimo
- Palano Antimo
- Palutan Matteo
- Palutan Matteo
- Panshin Gennady
- Panshin Gennady
- Paolucci Lorenzo
- Paolucci Lorenzo
- Papanestis Antonios
- Papanestis Antonios
- Pappagallo Marco
- Pappagallo Marco
- Pappalardo Luciano
- Pappalardo Luciano
- Pappenheimer Cheryl
- Pappenheimer Cheryl
- Parkes Christopher
- Parkes Christopher
- Passalacqua Barbara
- Passalacqua Barbara
- Passaleva Giovanni
- Passaleva Giovanni
- Passaro Daniele
- Passaro Daniele
- Pastore Alessandra
- Pastore Alessandra
- Patel Mitesh
- Patel Mitesh
- Patoc Jairus Tristan
- Patoc Jairus Tristan
- Patrignani Claudia
- Patrignani Claudia
- Pawley Christopher James
- Pawley Christopher James
- Pellegrino Antonio
- Pellegrino Antonio
- Pepe Altarelli Monica
- Pepe Altarelli Monica
- Perazzini Stefano
- Perazzini Stefano
- Pereima Dmitrii
- Pereima Dmitrii
- Pereiro Castro Asier
- Pereiro Castro Asier
- Perret Pascal
- Perret Pascal
- Perro Alberto
- Perro Alberto
- Petridis Konstantinos
- Petridis Konstantinos
- Petrolini Alessandro
- Petrolini Alessandro
- Petrucci Stefano
- Petrucci Stefano
- Pham Hang
- Pham Hang
- Philippov Anton
- Philippov Anton
- Pica Lorenzo
- Pica Lorenzo
- Piccini Mauro
- Piccini Mauro
- Pietrzyk Boleslaw
- Pietrzyk Boleslaw
- Pietrzyk Guillaume
- Pietrzyk Guillaume
- Pinci Davide
- Pinci Davide
- Pisani Flavio
- Pisani Flavio
- Pizzichemi Marco
- Pizzichemi Marco
- Placinta Vlad-Mihai
- Placinta Vlad-Mihai
- Plo Casasus Maximo
- Plo Casasus Maximo
- Polci Francesco
- Polci Francesco
- Poli Lener Marco
- Poli Lener Marco
- Poluektov Anton
- Poluektov Anton
- Polukhina Natalia
- Polukhina Natalia
- Polyakov Ivan
- Polyakov Ivan
- Polycarpo Erica
- Polycarpo Erica
- Ponce Sebastien
- Ponce Sebastien
- Popov Dmitry
- Popov Dmitry
- Poslavskii Stanislav
- Poslavskii Stanislav
- Prasanth Kodassery
- Prasanth Kodassery
- Promberger Laura
- Promberger Laura
- Prouve Claire
- Prouve Claire
- Pugatch Valery
- Pugatch Valery
- Puill Veronique
- Puill Veronique
- Punzi Giovanni
- Punzi Giovanni
- Qi Hongrong
- Qi Hongrong
- Qian Wenbin
- Qian Wenbin
- Qin Ning
- Qin Ning
- Qu Sanqiang
- Qu Sanqiang
- Quagliani Renato
- Quagliani Renato
- Rachwal Bartlomiej
- Rachwal Bartlomiej
- Rademacker Jonas
- Rademacker Jonas
- Rama Matteo
- Rama Matteo
- Ramos Pernas Miguel
- Ramos Pernas Miguel
- Ramírez García Manuel
- Ramírez García Manuel
- Rangel Murilo
- Rangel Murilo
- Ratnikov Fedor
- Ratnikov Fedor
- Raven Gerhard
- Raven Gerhard
- Rebollo De Miguel Miguel
- Rebollo De Miguel Miguel
- Redi Federico
- Redi Federico
- Reich Jake
- Reich Jake
- Reiss Florian
- Reiss Florian
- Ren Zan
- Ren Zan
- Resmi P.K.
- Resmi P.K.
- Ribatti Roberto
- Ribatti Roberto
- Ricart Gabriel
- Ricart Gabriel
- Riccardi Domenico
- Riccardi Domenico
- Ricciardi Stefania
- Ricciardi Stefania
- Richardson Kate Abigail
- Richardson Kate Abigail
- Richardson-Slipper Mary
- Richardson-Slipper Mary
- Rinnert Kurt
- Rinnert Kurt
- Robbe Patrick
- Robbe Patrick
- Robertson Gary
- Robertson Gary
- Rodrigues Eduardo
- Rodrigues Eduardo
- Rodriguez Fernandez Emilio Xose
- Rodriguez Fernandez Emilio Xose
- Rodriguez Lopez Jairo Alexis
- Rodriguez Lopez Jairo Alexis
- Rodriguez Rodriguez Efren
- Rodriguez Rodriguez Efren
- Rogovskiy Alexander
- Rogovskiy Alexander
- Rolf David Leonhard
- Rolf David Leonhard
- Rollings Alexandra Paige
- Rollings Alexandra Paige
- Roloff Philipp
- Roloff Philipp
- Romanovskiy Vladimir
- Romanovskiy Vladimir
- Romero Lamas Marcos
- Romero Lamas Marcos
- Romero Vidal Antonio
- Romero Vidal Antonio
- Romolini Gabriele
- Romolini Gabriele
- Ronchetti Federico
- Ronchetti Federico
- Rotondo Marcello
- Rotondo Marcello
- Rudolph Matthew Scott
- Rudolph Matthew Scott
- Ruf Thomas
- Ruf Thomas
- Ruiz Fernandez Ramon Angel
- Ruiz Fernandez Ramon Angel
- Ruiz Vidal Joan
- Ruiz Vidal Joan
- Ryzhikov Artem
- Ryzhikov Artem
- Ryzka Jakub
- Ryzka Jakub
- Saborido Silva Juan Jose
- Saborido Silva Juan Jose
- Sagidova Naylya
- Sagidova Naylya
- Sahoo Niladribihari
- Sahoo Niladribihari
- Saitta Biagio
- Saitta Biagio
- Salomoni Matteo
- Salomoni Matteo
- Sanchez Gras Cristina
- Sanchez Gras Cristina
- Sanderswood Izaac
- Sanderswood Izaac
- Santacesaria Roberta
- Santacesaria Roberta
- Santamarina Rios Cibran
- Santamarina Rios Cibran
- Santimaria Marco
- Santimaria Marco
- Santoro Leonardo
- Santoro Leonardo
- Santovetti Emanuele
- Santovetti Emanuele
- Saranin Danila
- Saranin Danila
- Sarpis Gediminas
- Sarpis Gediminas
- Sarpis Mindaugas
- Sarpis Mindaugas
- Sarti Alessio
- Sarti Alessio
- Satriano Celestina
- Satriano Celestina
- Satta Alessia
- Satta Alessia
- Saur Miroslav
- Saur Miroslav
- Savrina Darya
- Savrina Darya
- Sazak Halime
- Sazak Halime
- Scantlebury Smead Luke George
- Scantlebury Smead Luke George
- Scarabotto Alessandro
- Scarabotto Alessandro
- Schael Stefan
- Schael Stefan
- Scherl Sigrid
- Scherl Sigrid
- Schertz Amy Marie
- Schertz Amy Marie
- Schiller Manuel
- Schiller Manuel
- Schindler Heinrich
- Schindler Heinrich
- Schmelling Michael
- Schmelling Michael
- Schmidt Burkhard
- Schmidt Burkhard
- Schmitt Sebastian
- Schmitt Sebastian
- Schneider Olivier
- Schneider Olivier
- Schopper Andreas
- Schopper Andreas
- Schulte Nicole
- Schulte Nicole
- Schulte Sebastian
- Schulte Sebastian
- Schune Marie Helene
- Schune Marie Helene
- Schwemmer Rainer
- Schwemmer Rainer
- Schwering Georg
- Schwering Georg
- Sciascia Barbara
- Sciascia Barbara
- Sciuccati Augusto
- Sciuccati Augusto
- Sellam Sara
- Sellam Sara
- Semennikov Alexander
- Semennikov Alexander
- Senghi Soares Mara
- Senghi Soares Mara
- Sergi Antonino
- Sergi Antonino
- Serra Nicola
- Serra Nicola
- Sestini Lorenzo
- Sestini Lorenzo
- Seuthe Alex
- Seuthe Alex
- Shang Yiduo
- Shang Yiduo
- Shangase Desmond Mzamo
- Shangase Desmond Mzamo
- Shapkin Mikhail
- Shapkin Mikhail
- Shchemerov Ivan
- Shchemerov Ivan
- Shchutska Lesya
- Shchutska Lesya
- Shears Tara
- Shears Tara
- Shekhtman Lev
- Shekhtman Lev
- Shen Zhihong
- Shen Zhihong
- Sheng Shuqi
- Sheng Shuqi
- Shevchenko Vladimir
- Shevchenko Vladimir
- Shi Boan
- Shi Boan
- Shields Edward Brendan
- Shields Edward Brendan
- Shimizu Yuya
- Shimizu Yuya
- Shmanin Evgenii
- Shmanin Evgenii
- Shorkin Roman
- Shorkin Roman
- Shupperd Joseph David
- Shupperd Joseph David
- Siddi Benedetto Gianluca
- Siddi Benedetto Gianluca
- Silva Coutinho Rafael
- Silva Coutinho Rafael
- Simi Gabriele
- Simi Gabriele
- Simone Saverio
- Simone Saverio
- Singla Minni
- Singla Minni
- Skidmore Nicola
- Skidmore Nicola
- Skuza Raphael
- Skuza Raphael
- Skwarnicki Tomasz
- Skwarnicki Tomasz
- Slater Mark
- Slater Mark
- Smallwood Jennifer Clare
- Smallwood Jennifer Clare
- Smeaton John Gordon
- Smeaton John Gordon
- Smith Eluned
- Smith Eluned
- Smith Krista Lizbeth
- Smith Krista Lizbeth
- Smith Mark
- Smith Mark
- Snoch Aleksandra
- Snoch Aleksandra
- Soares Lavra Lais
- Soares Lavra Lais
- Sokoloff Michael
- Sokoloff Michael
- Soler Paul
- Soler Paul
- Solomin Anatoly
- Solomin Anatoly
- Solovev Aleksandr
- Solovev Aleksandr
- Solovyev Ivan
- Solovyev Ivan
- Song Rongrong
- Song Rongrong
- Song Yintong
- Song Yintong
- Song Yunxuan
- Song Yunxuan
- Song Yuxiang
- Song Yuxiang
- Souza De Almeida Felipe Luan
- Souza De Almeida Felipe Luan
- Souza De Paula Bruno
- Souza De Paula Bruno
- Spadaro Norella Elisabetta
- Spadaro Norella Elisabetta
- Spedicato Eugenia
- Spedicato Eugenia
- Speer Jannis Guido
- Speer Jannis Guido
- Spiridenkov Eduard
- Spiridenkov Eduard
- Spradlin Patrick
- Spradlin Patrick
- Sriskaran Viros
- Sriskaran Viros
- Stagni Federico
- Stagni Federico
- Stahl Marian
- Stahl Marian
- Stahl Sascha
- Stahl Sascha
- Stanislaus Seophine
- Stanislaus Seophine
- Stein Eloise Noelle
- Stein Eloise Noelle
- Steinkamp Olaf
- Steinkamp Olaf
- Stenyakin Oleg
- Stenyakin Oleg
- Stevens Holger
- Stevens Holger
- Strekalina Daria
- Strekalina Daria
- Su Yangjie
- Su Yangjie
- Suljik Fidan
- Suljik Fidan
- Sun Jiayin
- Sun Jiayin
- Sun Liang
- Sun Liang
- Sun Yipeng
- Sun Yipeng
- Swallow Paul Nathaniel
- Swallow Paul Nathaniel
- Swientek Krzysztof
- Swientek Krzysztof
- Swystun Francesca
- Swystun Francesca
- Szabelski Adam
- Szabelski Adam
- Szumlak Tomasz
- Szumlak Tomasz
- Szymanski Maciej Pawel
- Szymanski Maciej Pawel
- T'Jampens Stephane
- T'Jampens Stephane
- Tan Yinghua
- Tan Yinghua
- Taneja Shantam
- Taneja Shantam
- Tat Martin Duy
- Tat Martin Duy
- Terentev Aleksandr
- Terentev Aleksandr
- Teubert Frederic
- Teubert Frederic
- Thomas Eric
- Thomas Eric
- Thompson Daniel James David
- Thompson Daniel James David
- Tilquin Hanae
- Tilquin Hanae
- Tisserand Vincent
- Tisserand Vincent
- Tobin Mark
- Tobin Mark
- Tomassetti Luca
- Tomassetti Luca
- Tonani Giorgia
- Tonani Giorgia
- Tong Xingyu
- Tong Xingyu
- Torres Machado Diego
- Torres Machado Diego
- Toscano Luca
- Toscano Luca
- Tou Da Yu
- Tou Da Yu
- Trippl Carina
- Trippl Carina
- Tuci Giulia
- Tuci Giulia
- Tuning Niels
- Tuning Niels
- Ukleja Artur
- Ukleja Artur
- Unverzagt Daniel Joachim
- Unverzagt Daniel Joachim
- Ursov Eduard
- Ursov Eduard
- Usachov Andrii
- Usachov Andrii
- Ustyuzhanin Andrey
- Ustyuzhanin Andrey
- Uwer Ulrich
- Uwer Ulrich
- Vagnoni Vincenzo
- Vagnoni Vincenzo
- Valassi Andrea
- Valassi Andrea
- Valenti Giovanni
- Valenti Giovanni
- Valls Canudas Nuria
- Valls Canudas Nuria
- Van Dijk Maarten
- Van Dijk Maarten
- Van Hecke Hubert
- Van Hecke Hubert
- van Herwijnen Eric
- van Herwijnen Eric
- Van Hulse Charlotte Barbara
- Van Hulse Charlotte Barbara
- Van Laak Raphael
- Van Laak Raphael
- van Veghel Maarten
- van Veghel Maarten
- Vazquez Gomez Ricardo
- Vazquez Gomez Ricardo
- Vazquez Regueiro Pablo
- Vazquez Regueiro Pablo
- Vecchi Stefania
- Vecchi Stefania
- Velthuis Jaap
- Velthuis Jaap
- Veltri Michele
- Veltri Michele
- Venkateswaran Aravindhan
- Venkateswaran Aravindhan
- Vesterinen Mika
- Vesterinen Mika
- Vieira Daniel
- Vieira Daniel
- Vieites Diaz Maria
- Vieites Diaz Maria
- Vilasis-Cardona Xavier
- Vilasis-Cardona Xavier
- Vilella Figueras Eva
- Vilella Figueras Eva
- Villa Andrea
- Villa Andrea
- Vincent Pascal
- Vincent Pascal
- Volle Felicia Carolin
- Volle Felicia Carolin
- vom Bruch Dorothea
- vom Bruch Dorothea
- Vorobyev Vitaly
- Vorobyev Vitaly
- Voropaev Nikolai
- Voropaev Nikolai
- Vos Kimberley
- Vos Kimberley
- Vrahas Constantinos
- Vrahas Constantinos
- Vázquez Sierra Carlos
- Vázquez Sierra Carlos
- Walsh John
- Walsh John
- Walton Eliot Jane
- Walton Eliot Jane
- Wan Guanyue
- Wan Guanyue
- Wang Chishuai
- Wang Chishuai
- Wang Ganrong
- Wang Ganrong
- Wang Jialu
- Wang Jialu
- Wang Jianchun
- Wang Jianchun
- Wang Jianqiao
- Wang Jianqiao
- Wang Jike
- Wang Jike
- Wang Mengzhen
- Wang Mengzhen
- Wang Nanyang
- Wang Nanyang
- Wang Rui
- Wang Rui
- Wang Xiaolin
- Wang Xiaolin
- Wang Yilong
- Wang Yilong
- Wang Zhenzi
- Wang Zhenzi
- Wang Zirui
- Wang Zirui
- Wang Ziyi
- Wang Ziyi
- Ward Jake Alexander
- Ward Jake Alexander
- Watson Nigel
- Watson Nigel
- Websdale David
- Websdale David
- Wei Yajing
- Wei Yajing
- Westhenry Benedict Donald C.
- Westhenry Benedict Donald C.
- White Dylan Jaide
- White Dylan Jaide
- Whitehead Mark
- Whitehead Mark
- Wiederhold Aidan Richard
- Wiederhold Aidan Richard
- Wiedner Dirk
- Wiedner Dirk
- Wilkinson Guy
- Wilkinson Guy
- Wilkinson Michael K.
- Wilkinson Michael K.
- Williams Ifan
- Williams Ifan
- Williams Mark Richard James
- Williams Mark Richard James
- Williams Mike
- Williams Mike
- Williams Richard Morgan
- Williams Richard Morgan
- Wilson Fergus
- Wilson Fergus
- Wislicki Wojciech
- Wislicki Wojciech
- Witek Mariusz
- Witek Mariusz
- Witola Lukas
- Witola Lukas
- Wong Cheuk Ping
- Wong Cheuk Ping
- Wormser Guy
- Wormser Guy
- Wotton Stephen
- Wotton Stephen
- Wu Hangyi
- Wu Hangyi
- Wu Jie
- Wu Jie
- Wu Yanxi
- Wu Yanxi
- Wyllie Kenneth
- Wyllie Kenneth
- Xian Shu
- Xian Shu
- Xiang Zhiyu
- Xiang Zhiyu
- Xie Yuehong
- Xie Yuehong
- Xu Ao
- Xu Ao
- Xu Jingyi
- Xu Jingyi
- Xu Li
- Xu Li
- Xu Liangjun
- Xu Liangjun
- Xu Menglin
- Xu Menglin
- Xu Zehua
- Xu Zehua
- Xu Zhihao
- Xu Zhihao
- Xu Zijun
- Xu Zijun
- Yang Di
- Yang Di
- Yang Shuangli
- Yang Shuangli
- Yang Xueting
- Yang Xueting
- Yang Youhua
- Yang Youhua
- Yang Zhenwei
- Yang Zhenwei
- Yang Zishuo
- Yang Zishuo
- Yeroshenko Vsevolod
- Yeroshenko Vsevolod
- Yeung Ho Yin Dereck
- Yeung Ho Yin Dereck
- Yin Hang
- Yin Hang
- Yu Chenxu
- Yu Chenxu
- Yu Jiesheng
- Yu Jiesheng
- Yuan Xuhao
- Yuan Xuhao
- Zaffaroni Ettore
- Zaffaroni Ettore
- Zavertyaev Mikhail
- Zavertyaev Mikhail
- Zdybal Milosz
- Zdybal Milosz
- Zeng Ming
- Zeng Ming
- Zhang Chenjia
- Zhang Chenjia
- Zhang Dongliang
- Zhang Dongliang
- Zhang Jianyu
- Zhang Jianyu
- Zhang Liming
- Zhang Liming
- Zhang Shulei
- Zhang Shulei
- Zhang Shunan
- Zhang Shunan
- Zhang Yanxi
- Zhang Yanxi
- Zhang Yu
- Zhang Yu
- Zhao Ya
- Zhao Ya
- Zharkova Alina
- Zharkova Alina
- Zhelezov Alexey
- Zhelezov Alexey
- Zheng Yangheng
- Zheng Yangheng
- Zhou Tianwen
- Zhou Tianwen
- Zhou Xiaokang
- Zhou Xiaokang
- Zhou Yixiong
- Zhou Yixiong
- Zhovkovska Valeriia
- Zhovkovska Valeriia
- Zhu Linxuan
- Zhu Linxuan
- Zhu Xianglei
- Zhu Xianglei
- Zhu Xiaoyu
- Zhu Xiaoyu
- Zhu Zhanwen
- Zhu Zhanwen
- Zhukov Valery
- Zhukov Valery
- Zhuo Jiahui
- Zhuo Jiahui
- Zou Quan
- Zou Quan
- Zucchelli Stefano
- Zucchelli Stefano
- Zuliani Davide
- Zuliani Davide
- Zunica Gianluca
- Zunica Gianluca
- Publication venue
- Publication date
- 04/08/2023
- Field of study
The decay-time-dependent CP asymmetry in Bs0→J/ψ(→μ+μ−)K+K− decays is measured using proton-proton collision data, corresponding to an integrated luminosity of 6fb−1, collected with the LHCb detector at a center-of-mass energy of 13 TeV. Using a sample of approximately 349 000 Bs0 signal decays with an invariant K+K− mass in the vicinity of the ϕ(1020) resonance, the CP-violating phase ϕs is measured, along with the difference in decay widths of the light and heavy mass eigenstates of the Bs0-Bs0 system, ΔΓs, and the difference of the average Bs0 and B0 meson decay widths, Γs−Γd. The values obtained are ϕs=−0.039±0.022±0.006 rad, ΔΓs=0.0845±0.0044±0.0024 ps−1 and Γs−Γd=−0.056−0.0015+0.0013±0.0014 ps−1, where the first uncertainty is statistical and the second systematic. These are the most precise single measurements to date and are consistent with expectations based on the Standard Model and with the previous LHCb analyses of this decay. These results are combined with previous independent LHCb measurements. The phase ϕs is also measured independently for each polarization state of the K+K− system and shows no evidence for polarization dependence.The decay-time-dependent CP asymmetry in Bs0→J/ψ(→μ+μ−)K+K− decays is measured using proton-proton collision data, corresponding to an integrated luminosity of 6 fb−1, collected with the LHCb detector at a center-of-mass energy of 13 TeV. Using a sample of approximately 349 000 Bs0 signal decays with an invariant K+K− mass in the vicinity of the ϕ(1020) resonance, the CP-violating phase ϕs is measured, along with the difference in decay widths of the light and heavy mass eigenstates of the Bs0-Bˉs0 system, ΔΓs, and the difference of the average Bs0 and B0 meson decay widths, Γs−Γd. The values obtained are ϕs= −0.039±0.022±0.006 rad, ΔΓs=0.0845±0.0044±0.0024 ps−1 and Γs−Γd=−0.0056−0.0015+0.0013±0.0014 ps−1, where the first uncertainty is statistical and the second systematic. These are the most precise single measurements to date and are consistent with expectations based on the Standard Model and with the previous LHCb analyses of this decay. These results are combined with previous independent LHCb measurements. The phase ϕs is also measured independently for each polarization state of the K+K− system and shows no evidence for polarization dependence
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