6 research outputs found
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
- Author
- Abbott Liam E
- Abou-Khalil Bassel W
- Afawi Zaid
- Ali Quratulain Zulfiqar
- Allen Andrew S
- Amadori Elisa
- Anderson Joe
- Andrade Danielle M
- Annesi Grazia
- Arslan Mutluay
- Auce Pauls
- Baker Mark D
- Balestrini Simona
- Barba Carmen
- Barisic Nina
- Bartolomei Fabrice
- Baum Larry W
- Baumgartner Tobias H
- Baykan Betul
- Bebek Nerses
- Becker Felicitas
- Bennett Caitlin A
- Bennett Caitlin A
- Berkovic Samuel F
- Berkovic Samuel F
- Berkovic Samuel F
- Beydoun Ahmad
- Bianchini Claudia
- Bisulli Francesca
- Blatt Ilan
- Borggrafe Ingo
- Bosselmann Christian
- Braatz Vera
- Brockmann Knut
- Bruenger Tobias
- Buono Russell J
- Busch Robyn M
- Byrnes Andrea E
- Caglayan S Hande
- Canafoglia Laura
- Canavati Christina
- Castellotti Barbara
- Cavalleri Gianpiero L
- Cavalleri Gianpiero L
- Cerrato Felecia
- Chassoux Francine
- Cherny Stacey S
- Chou I-Jun
- Chung Seo-Kyung
- Churchhouse Claire
- Clark Peggy O
- Cole Andrew J
- Collins Ryan L
- Cosico Mahgenn
- Cossette Patrick
- Cossette Patrick
- Cotsapas Chris
- Cusick Caroline
- Davis Lea
- De Jonghe Peter
- De Jonghe Peter
- Delanty Norman
- Dennig Dieter
- Depondt Chantal
- Depondti Chantal
- Derambure Philippe
- Devinsky Orrin
- Dhindsa Ryan S
- Dhindsa Ryan S
- Dixon-Salazar Tracy
- Dlugos Dennis J
- Dlugos Dennis J
- Dlugos Dennis J
- Doccini Viola
- Doherty Colin P
- El-Naggar Hany
- Ellis Colin A
- Faucon Annika
- Feng Yen-Chen Anne
- Ferguson Lisa
- Ferraro Thomas N
- Feucht Martha
- Fitch Eryn
- Fonferko-Shadrach Beata
- Franceschetti Silvana
- French Jacqueline A
- French Jacqueline A
- Freyer Catharine
- Gagliardi Monica
- Gambardella Antonio
- Ganesan Shiva
- Giacomini Thea
- Glauser Tracy A
- Goldberg Ethan
- Goldman Alicia
- Goldstein David B
- Goldstein David B
- Goldstein David B
- Granata Tiziana
- Greenberg David A
- Guerrini Renzo
- Guerrini Renzo
- Gundogdu-Eken Asli
- Gupta Namrata
- Haas Kevin
- Haeusler Martin
- Hakonarson Hakon
- Hakonarson Hakon
- Haryanyan Garen
- Hegde Manu
- Heinzen Erin L
- Helbig Ingo
- Helbig Ingo
- Helbig Ingo
- Helbig Ingo
- Helbig Katherine L
- Hengsbach Christian
- Heyne Henrike
- Hirose Shinichi
- Hirsch Edouard
- Ho Chen-Jui
- Howrigan Daniel P
- Hucks Donald
- Iacomino Michele
- Inoue Yushi
- Ishii Atsushi
- Jehi Lara
- Johnson Michael R
- Kalviainen Reetta
- Kamalakaran Sitharthan
- Kanaan Moien
- Kara Bulent
- Kariuki SymonM
- Kegele Josua
- Kegele Josua
- Kesim Yesim
- Khoueiry-Zgheib Nathalie
- Khoury Jean
- King Chontelle
- Klein Karl Martin
- Klein Karl Martin
- Kluger Gerhard
- Knake Susanne
- Korczyn Amos D
- Korinthenberg Rudolf
- Kousiappa Ioanna
- Krause Roland
- Krestel Heinz
- Krey Ilona
- Kunz Wolfram S
- Kurlemann Gerhard
- Kurlemann Gerhard
- Kuzniecky Ruben I
- Kuzniecky Ruben I
- Kwan Patrick
- Kwan Patrick
- Kwan Patrick
- Labate Angelo
- Lal Dennis
- Lal Dennis
- Lal Dennis
- Lassuthova Petra
- Lauxmann Stephan
- Lawthom Charlotte
- Leech Stephanie L
- Leech Stephanie L
- Lehesjoki Anna-Elina
- Lemke Johannes R
- Lerche Holger
- Lerche Holger
- Lerche Holger
- Lesca Gaetan
- Leu Costin
- Leu Costin
- Lewis-Smith David
- Lewis-Smith David
- Lewis-Smith David
- Licchetta Laura
- Lin Chih-Hsiang
- Lin Kuang-Lin
- Linnankivi Tarja
- Lino Nobili
- Lo Warren
- Lowenstein Daniel H
- Lowenstein Daniel H
- Lowenstein Daniel H
- Lowenstein Daniel H
- Lui Colin HT
- Macnee Marie
- Madeleyn Rene
- Madia Francesca
- Maillard Louis
- Mancardi Maria Margherita
- Manna Lorella
- Marson Anthony G
- Marson Anthony G
- May Patrick
- Mayer Thomas
- McGraw ChristopherM
- McKenna Kevin
- Mei Davide
- Michel Veronique
- Minardi Raffaella
- Montanucci Ludovica
- Montomoli Martino
- Mostacci Barbara
- Motelow Joshua E
- Muccioli Lorenzo
- Mueller-Schlueter Karen
- Muhle Hiltrud
- Najm Imad M
- Nasreddine Wassim
- Neale Benjamin M
- Neubauer Bernd A
- Newton Charles RJC
- Niestroj Lisa-Marie
- Noebels Jeffrey L
- O'Brien Terence J
- Owusu-Agyei Seth
- Ozkara Cigdem
- Papacostas Savvas S
- Parrini Elena
- Parthasarathy Shridhar
- Pendziwiat Manuela
- Petrovski Slave
- Petrovski Slave
- Pickrell William O
- Pippucci Tommaso
- Poduri Annapurna
- Povysil Gundula
- Powell Robert HW
- Privitera Michael
- Rademacher Annika
- Ragona Francesca
- Rau Sarah
- Rees Mark I
- Regan Brigid M
- Regan Brigid M
- Reif Philipp S
- Reinthaler Eva
- Rheims Sylvain
- Riva Antonella
- Rosenow Felix
- Ryvlin Philippe
- Saarela Anni
- Sadleir Lynette G
- Sadoway Tara R
- Salman Baris
- Salpietro Vincenzo
- Scala Marcello
- Schachter Steven
- Schaller Andre
- Schankin Christoph J
- Scheffer Ingrid E
- Scheffer Ingrid E
- Schneider Natascha
- Schreiber Herbert
- Schubert-Bast Susanne
- Schulze-Bonhage Andreas
- Sedlackova Lucie
- Shain Catherine
- Sham Pakc
- Shiedley Beth R
- Shukralla Arif
- Siena S Anthony
- Sills Graeme J
- Singh Tarjinder
- Sisodiya Sanjay M
- Sisodiya Sanjay M
- Solomonson Matthew
- Sperling Michael R
- Stamberger Hannah
- Stanley Kate E
- Stanley Kate E
- Steinhoff Bernhard J
- Stephani Ulrich
- Sterbova Katalin
- Stewart Randy
- Striano Pasquale
- Striano Pasquale
- Surges Rainer
- Suzuki Toshimitsu
- Talkowski Michael
- Taneja Randip S
- Tanteles George A
- Tashman Katherine
- Thomas Rhys H
- Timonen Oskari
- Tinuper Paolo
- Todaro Marian
- Topaloglu Pinar
- Tsai Meng-Han
- Tumiene Birute
- Turkdogan Dilsad
- Ugur-Iseri Sibel
- Utkus Algirdas
- Vaidiswaran Priya
- Valton Luc
- van Baalen Andreas
- Vari Maria Stella
- Vetro Annalisa
- Vlckova Marketa
- von Spiczak Sarah
- von Wrede Randi
- Wagner Ryan G
- Watts Nick
- Weber Yvonne G
- Weckhuysen Sarah
- Weckhuysen Sarah
- Widdess-Walsh Peter
- Wolff Markus
- Wolking Stefan
- Wu David
- Xian Julie
- Yamakawa Kazuhiro
- Yapici Zuhal
- Yiolanda Christou
- Yis Uluc
- Yucesan Emrah
- Zagaglia Sara
- Zara Federico
- Zimprich Friedrich
- Zsurka Gabor
- Publication venue
- Nature Publishing Group
- Publication date
- 01/01/2023
- Field of study
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice
Towards an Adaptive Upper Limb Rehabilitation Game with Tangible Robots
- Author
- Publication venue
- 'Institute of Electrical and Electronics Engineers (IEEE)'
- Publication date
- 09/09/2019
- Field of study
A key feature of a successful game is its ability to provide the player with an adequate level of challenge. However, the objective of difficulty adaptation in serious games is not only to maintain the player’s motivation by challenging, but also to ensure the completion of training objectives. This paper describes our proposed upper-limb rehabilitation game with tangible robots and investigates the effect of game elements and gameplay on the amount of the performed motion in several planes and percentage of failure by using the data from 33 unimpaired subjects who played 53 games within two consecutive days. In order to provide a more generic adaptation strategy in the future, we discretize the game area to circular zones. We then show the effect of changing these zones during gameplay on the activation of different muscles through EMG data in a pilot study. The study shows that it is possible to increase the challenge level by adding more active agents chasing the player and increasing the speed of these agents. However, only the increase in number of agents significantly increases the users’ motion on both planes. Analysis of player behaviors leads us to suggest that by adapting the behaviour of these active agents in specific zones, it is possible to change the trajectory of the user, and to provide a focus on the activation of specific muscles
Diversity of endophytic bacteria from the cuprophytes Haumaniastrum katangense and Crepidorhopalon tenuis
- Author
- A Baker
- A Holmes
- A Meharg
- A Mengoni
- A Saito
- AC Ferreira
- Alfred Cubaka Kabagale
- AM Pirttilä
- B Leteinturier
- Bertrand Cornu
- C Lodewyckx
- C Lodewyckx
- C Mastretta
- Claire-Lise Meyer
- Corinne Vander Wauven
- E Fischer
- E Velázquez
- F Chipeng
- F Malaisse
- F Malaisse
- F Wintzingerode von
- Françoise van Vliet
- H Brim
- I Bussman
- JA McInroy
- Jean-Baptiste Lumbu Simbi
- JL Burkhead
- K Tamura
- K Ulrich
- L Diels
- L-N Sun
- Louis Droogmans
- M Cardinale
- M Kuffner
- M Macnair
- M Mergeay
- M Rosenblueth
- M Surette
- M-P Faucon
- M-P Faucon
- Max Mergeay
- N Gonzales
- N Verbruggen
- Nathalie Verbruggen
- P Duvigneaud
- P Hardoim
- R Barzanti
- R Idris
- R Idris
- RD Reeves
- RD Reeves
- RD Reeves
- RP Ryan
- RR Brooks
- S Doty
- S Ikeda
- S Monchy
- SF Altschul
- T Barac
- U Edwards
- U Kutschera
- V Gürtler
- WA Corpe
- X-F Sheng
- YA Trotsenko
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Mapping the human genetic architecture of COVID-19
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- Abdelrazik M.
- Abdullah T.
- Abe R.
- Abe S.
- Abecasis G. R.
- Abel L.
- Abernathy C.
- Abraheem A.
- Abul-Husn N. S.
- Acosta-Herrera M.
- Acquilini D.
- Adachi T.
- Adachi Y.
- Adams C.
- Adams K.
- Adanini O.
- Adeleye O.
- Adeniji K.
- Adra D.
- Afifi N.
- Afilalo J.
- Afilalo M.
- Afolabi D.
- Afrasiabi Z.
- Afset J. E.
- Agasou A.
- Aghemo A.
- Agranoff D.
- Agrawal S.
- Aguirre L. A.
- Agwuh K.
- Ahmad H. F.
- Ahmad N.
- Ahmed A.
- Ahmed C.
- Ahmed K. A.
- Ai M.
- Ail D.
- Akeroyd L.
- Akhtar M. N.
- Akhtar S.
- Akinkugbe O.
- Aksentijevich A.
- Al Thani A.
- Al-Muftah W.
- Al-Sarraj Y.
- Alarcon C.
- Alarcon-Riquelme M. E.
- Alasdair F.
- Alaverdian D.
- Alavere H.
- Albertos R.
- Albillos A.
- Albrecht W.
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- Aldera E. L.
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease
Mapping the human genetic architecture of COVID-19
- Author
- Abdelrazik M
- Abdullah T
- Abe R
- Abe S
- Abecasis GR
- Abel L
- Abernathy C
- Abraheem A
- Abul-Husn NS
- Acosta-Herrera M
- Acquilini D
- Acquilini D
- Adachi T
- Adachi Y
- Adams C
- Adams K
- Adanini O
- Adeleye O
- Adeniji K
- Adra D
- Afifi N
- Afilalo J
- Afilalo M
- Afolabi D
- Afrasiabi Z
- Afset JE
- Agasou A
- Aghemo A
- Agranoff D
- Agrawal S
- Aguirre LA
- Agwuh K
- Ahmad HF
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- Ai M
- Ail D
- Akeroyd L
- Akhtar MN
- Akhtar S
- Akinkugbe O
- Aksentijevich A
- Al Thani A
- Al-Muftah W
- Al-Sarraj Y
- Alarcon C
- Alarcon-Riquelme ME
- Alasdair F
- Alaverdian D
- Alavere H
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- Albrecht W
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- Albrich WC
- Aldera EL
- Aldridge J
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- Algera AG
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- Senaratne D
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- Shanmuga P
- Shanmugasundaram P
- Sharma A
- Shastri AJ
- Shaw CA
- Shaw D
- Shaw DM
- Shaw L
- Shaw R
- Shaw V
- Shaw VE
- Shawcross A
- Shears RK
- Shelley B
- Shelton JF
- Shelton S
- Shen X
- Shepardson S
- Shepherd A
- Shi H
- Shibata Y
- Shibusawa T
- Shiel J
- Shih B
- Shimada H
- Shimada T
- Shimizu T
- Shin E
- Shinoki M
- Shiomi T
- Shirai Y
- Shiroyama T
- Shokkar R
- Shoko T
- Short A
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- Shoura M
- Shuey MM
- Shuker K
- Siano M
- Sicat C
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- Sigfrid L
- Silva P
- Sim M
- Simms R
- Simpson K
- Simpson K
- Sin DD
- Singh J
- Singleton J
- Sipeky C
- Sivanadhan I
- Sizer J
- Skinner D
- Skinner D
- Skogen V
- Skurk C
- Slater V
- Slaughter M
- Slawson N
- Slevin K
- Sloan B
- Sloane G
- Sloofman L
- Sloofman LG
- Small B
- Smedley C
- Smit M
- Smith AV
- Smith E
- Smith GD
- Smith J
- Smith J
- Smith J
- Smith K
- Smith L
- Smith M
- Smith O
- Smith R
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- Smithson E
- Smits G
- Smoller JW
- Smuts S
- Smyth D
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- Snelson C
- So YS
- Solier A
- Sollesta K
- Solligard E
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- Solomonson M
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- Sonobe K
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- Sowter J
- Spagnesi M
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- Spertilli C
- Spinner CD
- Spittle N
- Spivey M
- Springle P
- Squeo GM
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- Srikaran S
- Sriskandan S
- Stacey A
- Staderoli A
- Staines N
- Staines N
- Stambach T
- Stammers K
- Starkopf J
- Stead R
- Stefansson K
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- Striano P
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- Sun YV
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- Suzuki Y
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- Takagi H
- Takahashi K
- Takahashi K
- Takahashi K
- Takahashi M
- Takahashi M
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- Taneski F
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- Tanigawa Y
- Tanigawa Y
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- Taniyama D
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- Task HGC
- Tateishi T
- Tateno H
- Tatham K
- Tatham KC
- Tavares S
- Tavecchia L
- Taylor A
- Taylor J
- Taylor M
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- Taylor M
- Team AC
- Team GHR
- Tebbutt J
- Tedder RS
- Teles A
- Tellez L
- Templeton M
- Tench H
- Tenesa A
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- Terai H
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- Terron Arcos V
- Tetla D
- Teumer A
- Teunissen C
- Texeira J
- Thanasi M
- Thankachen M
- Thibeault C
- Thirlwall Y
- Thirumaran M
- Thomas A
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- Thomas V
- Thomis L
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- Thompson AAR
- Thompson C
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- Thompson RC
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- Thonon R
- Thoral P
- Thornton D
- Thornton L
- Thorpe C
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- Thrasyvoulou L
- Thrush J
- Thwaites RS
- Thwaites V
- Thwaites V
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- Tierney C
- Tilbey S
- Tilney E
- Timens W
- Timlick E
- Ting L
- Tiseo G
- Tiseo G
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- Todd A
- Togashi Y
- Tohda S
- Tokunaga K
- Tolson M
- Tomas AL
- Tommasi A
- Tomono K
- Tonby K
- Tonks L
- Torrents D
- Tran F
- Trankiem A
- Trankiem A
- Tranter H
- Trembath RC
- Trembath RC
- Tridente A
- Tridente A
- Trim F
- Trivedi B
- Trivedi B
- Trochu E
- Trodd D
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- Trotta T
- Trower H
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- Trumper E
- Tsao P
- Tschopp J
- Tselios C
- Tsinaslanidis G
- Tsonas A
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- Turki S
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- Turtle LCW
- Turtle LCW
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- Tyl D
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- Uchimura Y
- Uddin MJ
- Uddin MM
- Ueda S
- Ueda T
- Uellendahl-Werth F
- Uffelmann E
- Umeda A
- Underwood SJ
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- Ustianowski A
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- Uwamino Y
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- Valentine J
- Valentino F
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- van Blokland I
- van de Beek D
- van den Berge M
- van der Poll T
- van der Valk M
- van Heel D
- van Heel DA
- van Heel DA
- van Koutrik L
- van Mourik N
- Van Singer M
- van Tonder L
- van Uffelen KWJ
- van Vugt M
- Vandernoot I
- Varghese M
- Vari MS
- Varnai R
- Vecchia M
- Vedage D
- Veelo D
- Veerapen K
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- Veerapen K
- Vehreschild MJGT
- Velho M
- Venkatesh H
- Venturelli S
- Verdugo RA
- Vergori A
- Verlander M
- Verma A
- Verma SS
- Vertue M
- Vertue M
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- Verzuri A
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- Vigurs C
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- Vincenti A
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- Vitart V
- Vizcaychipi MP
- Vlaar APJ
- Vochin A
- Voide C
- Voide C
- Volland S
- Vollenweider P
- Vollenweider P
- Von Frenckell C
- von Hohenstaufen K
- von Mering C
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- Voza A
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- Vuylsteke A
- Vuylsteke A
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- Wadams B
- Waddington N
- Waddy S
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- Waite AAC
- Wakabayashi A
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- Wang Q
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- Watanabe K
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- Waugh V
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- Webster K
- Wei S
- Weiss ST
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- Wells C
- Welters I
- Welters ID
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- Wendt FR
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- Wesse T
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- Weston H
- Wham M
- Wheeler M
- Whileman A
- Whitbread J
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- White I
- White K
- White M
- White N
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- Whiteley S
- Whiteside J
- Whittaker P
- Whittington A
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- Wiersinga WJ
- Wijesinghe M
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- Williams H
- Williams K
- Williams M
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- Williams P
- Williams S
- Williams T
- Willis H
- Wills M
- Willson J
- Wilson A
- Wilson DJ
- Wilson J
- Wilson JF
- Wilson L
- Winchester S
- Winnard S
- Winter-Goodwin B
- Wiselka M
- Wittig M
- Witzke O
- Wolf-Roberts R
- Wolford B
- Wolford B
- Wolterman RA
- Wolverson A
- Wong J
- Wood D
- Wood H-L
- Wood S
- Wood T
- Woodford C
- Woodruff M
- Woods L
- Woodyatt W
- Woolley AE
- Wooton DG
- Working UCLAHATLASDM
- Workman A
- Worner R
- Worsley L
- Wouters D
- Wozniak H
- Wray G
- Wren L
- Wright D
- Wright J
- Wright J
- Wright M
- Wrobel N
- Wrobel N
- Wu Y
- Wulandari R
- Wyllie DH
- Wynter I
- Xavier K
- Xue X
- Yadav A
- Yagi K
- Yamada M
- Yamada Y
- Yamagata K
- Yamasaki M
- Yang G
- Yang J
- Yang Z
- Yaspan B
- Yasui Y
- Yates B
- Yates B
- Yatomi M
- Ye C
- Yengo L
- Yermakovich D
- Yi X
- Yonekawa A
- Yoon H
- Yoon KJ
- Yoshida K
- Yoshida S
- Yoshida S
- Yoshida T
- Yoshihara T
- Yoshiya K
- Yoshiyama T
- Youlton N
- Younes SE
- Young P
- Yun N
- Zak A
- Zaki A
- Zambon M
- Zamikula J
- Zanella A
- Zanella I
- Zanelli G
- Zara F
- Zara F
- Zarate R
- Zarate R
- Zborowski AC
- Zeberg H
- Zechner M
- Zechner M
- Zguro K
- Zhai R
- Zhang JE
- Zhang M
- Zhao JH
- Zhen J
- Zheng C
- Zheng T
- Zhou W
- Zhou W
- Zhu W
- Zitter L
- Zlatopolsky M
- Zoller H
- Zollner S
- Zongo O
- zu Bentrup FM
- Zucchi P
- Zwinderman AHK
- Zyndorf M
- Publication venue
- Publication date
- 01/01/2021
- Field of study
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3,4,5,6,7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
- Author
- 6zkara \uc7i\u11fdem
- \u160t\u11brbov\ue1 Katalin
- Abbott Liam E.
- Abou-Khalil Bassel W.
- Afawi Zaid
- Ali Quratulain Zulfiqar
- Allen Andrew S.
- Amadori Elisa
- Anderson Joe
- Andrade Danielle M.
- Annesi Grazia
- Arslan Mutluay
- Auce Pauls
- Baker Mark D.
- Balestrini Simona
- Barba Carmen
- Bari\u161i\u107 Nina
- Barisic Nina
- Bartolomei Fabrice
- Baum Larry W.
- Baumgartner Tobias H.
- Baykan Bet\ufcl
- Baykan Betul
- Bebek Nerses
- Becker Felicitas
- Bennett Caitlin A.
- Berkovic Samuel F.
- Beydoun Ahmad
- Bianchini Claudia
- Bisulli Francesca
- Blatt Ilan
- Borggr\ue4fe Ingo
- Borggrafe Ingo
- Bosselmann Christian
- Br\ufcnger Tobias
- Braatz Vera
- Brockmann Knut
- Bruenger Tobias
- Buono Russell J.
- Busch Robyn M.
- Byrnes Andrea E.
- Caglayan S. Hande
- Canafoglia Laura
- Canavati Christina
- Castellotti Barbara
- Cavalleri Gianpiero L.
- Cerrato Felecia
- Chassoux Francine
- Cherny Stacey S.
- Chou I-Jun
- Chung Seo-Kyung
- Churchhouse Claire
- Clark Peggy O.
- Cole Andrew J.
- Collins Ryan L.
- Cosico Mahgenn
- Cossette Patrick
- Cotsapas Chris
- Cusick Caroline
- Davis Lea
- De Jonghe Peter
- Delanty Norman
- Dennig Dieter
- Depondt Chantal
- Depondti Chantal
- Derambure Philippe
- Devinsky Orrin
- Dhindsa Ryan S.
- Dixon-Salazar Tracy
- Dlugos Dennis J.
- Dlugos Dennis J.
- Doccini Viola
- Doherty Colin P.
- El-Naggar Hany
- Ellis Colin A.
- Faucon Annika
- Feng Yen-Chen Anne
- Ferguson Lisa
- Ferraro Thomas N.
- Feucht Martha
- Fitch Eryn
- Fonferko-Shadrach Beata
- Franceschetti Silvana
- French Jacqueline A.
- Freyer Catharine
- Gagliardi Monica
- Gambardella Antonio
- Ganesan Shiva
- Giacomini Thea
- Glauser Tracy A.
- Goldberg Ethan
- Goldman Alicia
- Goldstein David B.
- Granata Tiziana
- Greenberg David A.
- Guerrini Renzo
- Gundogdu-Eken Asl\u131
- Gundogdu-Eken Asli
- Gupta Namrata
- H\ue4usler Martin
- Haas Kevin
- Haeusler Martin
- Hakonarson Hakon
- Haryanyan Garen
- Hegde Manu
- Heinzen Erin L.
- Helbig Ingo
- Helbig Ingo
- Helbig Ingo
- Helbig Katherine L.
- Hengsbach Christian
- Heyne Henrike
- Hirose Shinichi
- Hirsch Edouard
- Ho Chen-Jui
- Howrigan Daniel P.
- Hucks Donald
- Iacomino Michele
- Inoue Yushi
- Ishii Atsushi
- Jehi Lara
- Johnson Michael R.
- K\ue4lvi\ue4inen Reetta
- Kalviainen Reetta
- Kamalakaran Sitharthan
- Kanaan Moien
- Kara Bulent
- Kariuki Symon M.
- Kariuki SymonM.
- Kegele Josua
- Kesim Ye\u15fim
- Kesim Yesim
- Khoueiry-Zgheib Nathalie
- Khoury Jean
- King Chontelle
- Klein Karl Martin
- Kluger Gerhard
- Knake Susanne
- Korczyn Amos D.
- Korinthenberg Rudolf
- Kousiappa Ioanna
- Krause Roland
- Krestel Heinz
- Krey Ilona
- Kunz Wolfram S.
- Kurlemann Gerhard
- Kurlemann Gerhard
- Kuzniecky Ruben I.
- Kwan Patrick
- Kwan Patrick
- La\u161\u161uthov\ue1 Petra
- Labate Angelo
- Lal Dennis
- Lal Dennis
- Lal Dennis
- Lassuthova Petra
- Lauxmann Stephan
- Lawthom Charlotte
- Leech Stephanie L.
- Lehesjoki Anna-Elina
- Lemke Johannes R.
- Lerche Holger
- Lesca Gaetan
- Leu Costin
- Leu Costin
- Lewis-Smith David
- Lewis-Smith David
- Licchetta Laura
- Lin Chih-Hsiang
- Lin Kuang-Lin
- Linnankivi Tarja
- Lino Nobili
- Lo Warren
- Lowenstein Daniel H.
- Lui Colin H. T.
- M\ufcller-Schl\ufcter Karen
- Macnee Marie
- Madeleyn Rene
- Madia Francesca
- Maillard Louis
- Mancardi Maria Margherita
- Manna Lorella
- Marson Anthony G.
- May Patrick
- Mayer Thomas
- McGraw Christopher M.
- McGraw ChristopherM.
- McKenna Kevin
- Mei Davide
- Michel V\ue9ronique
- Michel Veronique
- Minardi Raffaella
- Montanucci Ludovica
- Montomoli Martino
- Mostacci Barbara
- Motelow Joshua E.
- Muccioli Lorenzo
- Mueller-Schlueter Karen
- Muhle Hiltrud
- Najm Imad M.
- Nasreddine Wassim
- Neale Benjamin M.
- Neubauer Bernd A.
- Newton Charles R. J. C.
- Niestroj Lisa-Marie
- Noebels Jeffrey L.
- O'Brien Terence J.
- O\u2019Brien Terence J.
- Owusu-Agyei Seth
- Ozkara Cigdem
- Papacostas Savvas S.
- Parrini Elena
- Parthasarathy Shridhar
- Pendziwiat Manuela
- Petrovski Slav\ue9
- Petrovski Slave
- Pickrell William O.
- Pippucci Tommaso
- Poduri Annapurna
- Povysil Gundula
- Powell Robert H. W.
- Privitera Michael
- Rademacher Annika
- Ragona Francesca
- Rau Sarah
- Rees Mark I.
- Regan Brigid M.
- Reif Philipp S.
- Reinthaler Eva
- Rheims Sylvain
- Riva Antonella
- Rosenow Felix
- Ryvlin Philippe
- Saarela Anni
- Sadleir Lynette G.
- Sadoway Tara R.
- Salman Bar\u131\u15f
- Salman Baris
- Salpietro Vincenzo
- Scala Marcello
- Schachter Steven
- Schaller Andr\ue9
- Schaller Andre
- Schankin Christoph J.
- Scheffer Ingrid E.
- Schneider Natascha
- Schreiber Herbert
- Schubert-Bast Susanne
- Schulze-Bonhage Andreas
- Sedl\ue1\u10dkov\ue1 Lucie
- Sedlackova Lucie
- Shain Catherine
- Sham Pak C.
- Sham Pakc.
- Shiedley Beth R.
- Shukralla Arif
- Siena S. Anthony
- Sills Graeme J.
- Singh Tarjinder
- Sisodiya Sanjay M.
- Solomonson Matthew
- Sperling Michael R.
- Stamberger Hannah
- Stanley Kate E.
- Steinhoff Bernhard J.
- Stephani Ulrich
- Sterbova Katalin
- Stewart Randy
- Striano Pasquale
- Surges Rainer
- Suzuki Toshimitsu
- Talkowski Michael
- Taneja Randip S.
- Tanteles George A.
- Tashman Katherine
- Thomas Rhys H.
- Timonen Oskari
- Tinuper Paolo
- Todaro Marian
- Topaloglu P\u131nar
- Topaloglu Pinar
- Tsai Meng-Han
- Tumiene Birute
- Turkdogan Dilsad
- U\u11fur-\u130\u15feri Sibel
- Ugur-Iseri Sibel
- Utkus Algirdas
- Vaidiswaran Priya
- Valton Luc
- van Baalen Andreas
- Vari Maria Stella
- Vetro Annalisa
- Vl\u10dkov\ue1 Mark\ue9ta
- Vlckova Marketa
- von Spiczak Sarah
- von Wrede Randi
- Wagner Ryan G.
- Watts Nick
- Weber Yvonne G.
- Weckhuysen Sarah
- Widdess-Walsh Peter
- Wolff Markus
- Wolking Stefan
- Wu David
- Xian Julie
- Y\ufccesan Emrah
- Yamakawa Kazuhiro
- Yap\u131c\u131 Zuhal
- Yapici Zuhal
- Yiolanda Christou
- Yis Uluc
- Yucesan Emrah
- Zagaglia Sara
- Zara Federico
- Zimprich Friedrich
- Zsurka G\ue1bor
- Zsurka Gabor
- Publication venue
- Publication date
- 01/01/2023
- Field of study