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Genome medicine, 2019-12, Vol.12 (1), p.3-3, Article 3
2019
Link zum Volltext
American journal of human genetics, 2022-12, Vol.109 (12), p.2163-2177
- Pejaver, Vikas
- Byrne, Alicia B.
- Feng, Bing-Jian
- Pagel, Kymberleigh A.
- Mooney, Sean D.
- Karchin, Rachel
- O’Donnell-Luria, Anne
- Harrison, Steven M.
- Tavtigian, Sean V.
- Greenblatt, Marc S.
- Biesecker, Leslie G.
- Radivojac, Predrag
- Brenner, Steven E.
- Tayoun, Ahmad A.
- Berg, Jonathan S.
- Cutting, Garry R.
- Ellard, Sian
- Kang, Peter
- Karbassi, Izabela
- Mester, Jessica
- Pesaran, Tina
- Plon, Sharon E.
- Rehm, Heidi L.
- Strande, Natasha T.
- Topper, Scott
2022
Link zum Volltext
The Journal of experimental medicine, 2021-06, Vol.218 (6)
2021
Link zum Volltext
Nature biotechnology, 2024-04, Vol.42 (4), p.663-673
2024
Link zum Volltext
American journal of human genetics, 2023-07, Vol.110 (7), p.1046-1067
- Walker, Logan C.
- Hoya, Miguel de la
- Wiggins, George A.R.
- Lindy, Amanda
- Vincent, Lisa M.
- Parsons, Michael T.
- Canson, Daffodil M.
- Bis-Brewer, Dana
- Cass, Ashley
- Tchourbanov, Alexander
- Zimmermann, Heather
- Byrne, Alicia B.
- Pesaran, Tina
- Karam, Rachid
- Harrison, Steven M.
- Spurdle, Amanda B.
- Biesecker, Leslie G.
- Tayoun, Ahmad A.
- Berg, Jonathan S.
- Brenner, Steven E.
- Cutting, Garry R.
- Ellard, Sian
- Greenblatt, Marc S.
- Kang, Peter
- Karbassi, Izabela
- Karchin, Rachel
- Mester, Jessica
- O’Donnell-Luria, Anne
- Plon, Sharon E.
- Rehm, Heidi L.
- Strande, Natasha T.
- Tavtigian, Sean V.
- Topper, Scott
2023
Link zum Volltext
Nature (London), 2023-05, Vol.617 (7960), p.335-343
2023
Link zum Volltext
Nature medicine, 2022-05, Vol.28 (5), p.879-882
2022
Link zum Volltext
The Journal of experimental medicine, 2022-08, Vol.219 (8)
- Zhang, Qian
- Matuozzo, Daniela
- Le Pen, Jérémie
- Lee, Danyel
- Moens, Leen
- Asano, Takaki
- Bohlen, Jonathan
- Liu, Zhiyong
- Moncada-Velez, Marcela
- Kendir-Demirkol, Yasemin
- Jing, Huie
- Bizien, Lucy
- Marchal, Astrid
- Abolhassani, Hassan
- Delafontaine, Selket
- Bucciol, Giorgia
- Bayhan, Gulsum Ical
- Keles, Sevgi
- Kiykim, Ayca
- Hancerli, Selda
- Haerynck, Filomeen
- Florkin, Benoit
- Hatipoglu, Nevin
- Ozcelik, Tayfun
- Morelle, Guillaume
- Zatz, Mayana
- Ng, Lisa F P
- Lye, David Chien
- Young, Barnaby Edward
- Leo, Yee-Sin
- Dalgard, Clifton L
- Lifton, Richard P
- Renia, Laurent
- Meyts, Isabelle
- Jouanguy, Emmanuelle
- Hammarström, Lennart
- Pan-Hammarström, Qiang
- Boisson, Bertrand
- Bastard, Paul
- Su, Helen C
- Boisson-Dupuis, Stéphanie
- Abel, Laurent
- Rice, Charles M
- Zhang, Shen-Ying
- Cobat, Aurélie
- Casanova, Jean-Laurent
2022
Link zum Volltext
Nature (London), 2023-05, Vol.617 (7960), p.325-334
2023
Link zum Volltext
The Journal of experimental medicine, 2022-11, Vol.219 (11)
- Zhang, Qian
- Pizzorno, Andrés
- Miorin, Lisa
- Bastard, Paul
- Gervais, Adrian
- Le Voyer, Tom
- Bizien, Lucy
- Manry, Jeremy
- Rosain, Jérémie
- Philippot, Quentin
- Goavec, Kelian
- Padey, Blandine
- Cupic, Anastasija
- Laurent, Emilie
- Saker, Kahina
- Vanker, Martti
- Särekannu, Karita
- García-Salum, Tamara
- Ferres, Marcela
- Le Corre, Nicole
- Sánchez-Céspedes, Javier
- Balsera-Manzanero, María
- Carratala, Jordi
- Retamar-Gentil, Pilar
- Abelenda-Alonso, Gabriela
- Valiente, Adoración
- Tiberghien, Pierre
- Zins, Marie
- Debette, Stéphanie
- Meyts, Isabelle
- Haerynck, Filomeen
- Castagnoli, Riccardo
- Notarangelo, Luigi D
- Gonzalez-Granado, Luis I
- Dominguez-Pinilla, Nerea
- Andreakos, Evangelos
- Triantafyllia, Vasiliki
- Rodríguez-Gallego, Carlos
- Solé-Violán, Jordi
- Ruiz-Hernandez, José Juan
- Rodríguez de Castro, Felipe
- Ferreres, José
- Briones, Marisa
- Wauters, Joost
- Vanderbeke, Lore
- Feys, Simon
- Kuo, Chen-Yen
- Lei, Wei-Te
- Ku, Cheng-Lung
- Tal, Galit
- Etzioni, Amos
- Hanna, Suhair
- Fournet, Thomas
- Casalegno, Jean-Sebastien
- Queromes, Gregory
- Argaud, Laurent
- Javouhey, Etienne
- Rosa-Calatrava, Manuel
- Cordero, Elisa
- Aydillo, Teresa
- Medina, Rafael A
- Kisand, Kai
- Puel, Anne
- Jouanguy, Emmanuelle
- Abel, Laurent
- Cobat, Aurélie
- Trouillet-Assant, Sophie
- García-Sastre, Adolfo
- Casanova, Jean-Laurent
2022
Link zum Volltext
The Journal of experimental medicine, 2022-07, Vol.219 (7)
- Campbell, Tessa Mollie
- Liu, Zhiyong
- Zhang, Qian
- Moncada-Velez, Marcela
- Covill, Laura E
- Zhang, Peng
- Alavi Darazam, Ilad
- Bastard, Paul
- Bizien, Lucy
- Bucciol, Giorgia
- Lind Enoksson, Sara
- Jouanguy, Emmanuelle
- Karabela, Şemsi Nur
- Khan, Taushif
- Kendir-Demirkol, Yasemin
- Arias, Andres Augusto
- Mansouri, Davood
- Marits, Per
- Marr, Nico
- Migeotte, Isabelle
- Moens, Leen
- Ozcelik, Tayfun
- Pellier, Isabelle
- Sendel, Anton
- Şenoğlu, Sevtap
- Shahrooei, Mohammad
- Smith, C I Edvard
- Vandernoot, Isabelle
- Willekens, Karen
- Kart Yaşar, Kadriye
- Bergman, Peter
- Abel, Laurent
- Cobat, Aurélie
- Casanova, Jean-Laurent
- Meyts, Isabelle
- Bryceson, Yenan T
2022
Link zum Volltext
Nature (London), 2023-11, Vol.623 (7988), p.803-813
- Le Voyer, Tom
- Gervais, Adrian
- Rosain, Jérémie
- Rinchai, Darawan
- Hancioglu, Gonca
- Ghillani-Dalbin, Pascale
- Charuel, Jean-Luc
- Philippot, Quentin
- Gueye, Mame Sokhna
- Maglorius Renkilaraj, Majistor Raj Luxman
- Ogishi, Masato
- Soudée, Camille
- Migaud, Mélanie
- Rozenberg, Flore
- Momenilandi, Mana
- Delmonte, Ottavia M
- Müller, Gabriele
- Keller, Baerbel
- Franco Gallego, William Alexander
- Rubin, Tamar
- Emiroglu, Melike
- Parvaneh, Nima
- Aranda-Guillen, Maribel
- Berrios, David I
- Vong, Linda
- Katelaris, Constance H
- Mustillo, Peter
- Raedler, Johannes
- Bohlen, Jonathan
- Winter, Sarah
- McLean, Catriona
- Guffroy, Aurélien
- DeRisi, Joseph L
- Yu, David
- Miller, Corey
- Feng, Yi
- Béziat, Vivien
- Bustamante, Jacinta
- Pan-Hammarström, Qiang
- Holland, Steve M
- Bosticardo, Marita
- Kenney, Heather
- Slade, Charlotte A
- Boztuğ, Kaan
- Mahlaoui, Nizar
- Abraham, Roshini S
- Lougaris, Vassilios
- Hauck, Fabian
- Sediva, Anna
- Atschekzei, Faranaz
- Poli, M Cecilia
- Slatter, Mary A
- Palterer, Boaz
- Suan, Daniel
- Wong, Melanie
- Kane, Alisa
- Ma, Cindy
- Grombiříková, Hana
- Dalal, Ilan
- Aladjidi, Nathalie
- Hie, Miguel
- Lazaro, Estibaliz
- Franco, Jose
- Keles, Sevgi
- Malphettes, Marion
- Pasquet, Marlene
- Maccari, Maria Elena
- Meinhardt, Andrea
- Shahrooei, Mohammad
- Goodnow, Christopher C
- Gray, Paul E
- Belot, Alexandre
- Kuehn, Hye Sun
- Rosenzweig, Sergio D
- Miyara, Makoto
- Licciardi, Francesco
- Servettaz, Amélie
- Le Guenno, Guillaume
- Herrmann, Vera-Maria
- Sarrot-Reynauld, Françoise
- Schuetz, Catharina
- Cunningham-Rundles, Charlotte
- Tangye, Stuart G
- Sobacchi, Cristina
- Grimbacher, Bodo
- Fieschi, Claire
- Berteloot, Laureline
- Trouillet Assant, Sophie
- Neven, Benedicte
- Abel, Laurent
- Cobat, Aurélie
- Jouanguy, Emmanuelle
- Kampe, Olle
- Bastard, Paul
- Roifman, Chaim M
- Landegren, Nils
- Notarangelo, Luigi D
- Anderson, Mark S
- Casanova, Jean-Laurent
- Puel, Anne
2023
Link zum Volltext
Journal of allergy and clinical immunology, 2023-04, Vol.151 (4), p.818-831
- Tangye, Stuart G.
- Abel, Laurent
- Al-Muhsen, Salah
- Aiuti, Alessandro
- Al-Muhsen, Saleh
- Al-Mulla, Fahd
- Anderson, Mark S.
- Andreakos, Evangelos
- Novelli, Antonio
- Arias, Andrés A.
- Feldman, Hagit Baris
- Belot, Alexandre
- Biggs, Catherine M.
- Bousfiha, Ahmed A.
- Brodin, Petter
- Christodoulou, John
- Condino-Neto, Antonio
- Dalgard, Clifton L.
- Espinosa-Padilla, Sara
- Fellay, Jacques
- Flores, Carlos
- Franco, José Luis
- Froidure, Antoine
- Haerynck, Filomeen
- Halwani, Rabih
- Hammarström, Lennart
- Henrickson, Sarah E.
- Hsieh, Elena W.Y.
- Itan, Yuval
- Karamitros, Timokratis
- Lau, Yu-Lung
- Mansouri, Davood
- Meyts, Isabelle
- Mogensen, Trine H.
- Morio, Tomohiro
- Ng, Lisa F.P.
- Notarangelo, Luigi D.
- Novelli, Giuseppe
- Okada, Satoshi
- Ozcelik, Tayfun
- Pan-Hammarström, Qiang
- Perez de Diego, Rebeca
- Prando, Carolina
- Pujol, Aurora
- Renia, Laurent
- Resnick, Igor
- Rodríguez-Gallego, Carlos
- Sancho-Shimizu, Vanessa
- Seppänen, Mikko R.J.
- Shcherbina, Anna
- Snow, Andrew L.
- Soler-Palacín, Pere
- Spaan, András N.
- Tancevski, Ivan
- Tayoun, Ahmad Abou
- Temel, Sehime G.
- Turvey, Stuart E.
- Uddin, Mohammed J.
- Vinh, Donald C.
- Zatz, Mayana
- Okamoto, Keisuke
- Pelin, David S.
- Pesole, Graziano
- van de Beek, Diederik
- Colobran, Roger
- Wauters, Joost
- Su, Helen C.
- Casanova, Jean-Laurent
2023
Link zum Volltext
Genome research, 2023-04, Vol.33 (4), p.496
2023
Link zum Volltext
The Journal of experimental medicine, 2023-05, Vol.220 (5)
- García-García, Ana
- Pérez de Diego, Rebeca
- Flores, Carlos
- Rinchai, Darawan
- Solé-Violán, Jordi
- Deyà-Martínez, Àngela
- García-Solis, Blanca
- Lorenzo-Salazar, José M
- Hernández-Brito, Elisa
- Lanz, Anna-Lisa
- Moens, Leen
- Bucciol, Giorgia
- Almuqamam, Mohamed
- Domachowske, Joseph B
- Colino, Elena
- Santos-Perez, Juan Luis
- Marco, Francisco M
- Pignata, Claudio
- Bousfiha, Aziz
- Turvey, Stuart E
- Bauer, Stefanie
- Haerynck, Filomeen
- Ocejo-Vinyals, Javier Gonzalo
- Lendinez, Francisco
- Prader, Seraina
- Naumann-Bartsch, Nora
- Pachlopnik Schmid, Jana
- Biggs, Catherine M
- Hildebrand, Kyla
- Dreesman, Alexandra
- Cárdenes, Miguel Ángel
- Ailal, Fatima
- Benhsaien, Ibtihal
- Giardino, Giuliana
- Molina-Fuentes, Agueda
- Fortuny, Claudia
- Madhavarapu, Swetha
- Conway, Daniel H
- Prando, Carolina
- Schidlowski, Laire
- Martínez de Saavedra Álvarez, María Teresa
- Alfaro, Rafael
- Rodríguez de Castro, Felipe
- Meyts, Isabelle
- Hauck, Fabian
- Puel, Anne
- Bastard, Paul
- Boisson, Bertrand
- Jouanguy, Emmanuelle
- Abel, Laurent
- Cobat, Aurélie
- Zhang, Qian
- Casanova, Jean-Laurent
- Alsina, Laia
- Rodríguez-Gallego, Carlos
2023
Link zum Volltext
Journal of investigative dermatology, 2021-12, Vol.141 (12), p.2791-2796
- Arkin, Lisa M.
- Moon, John J.
- Tran, Jennifer M.
- Asgari, Samira
- O’Farrelly, Cliona
- Casanova, Jean-Laurent
- Cowen, Edward W.
- Mays, Jacqueline W.
- Singh, Anne Marie
- Drolet, Beth A.
- Aiuti, Alessandro
- Belot, Alexandre
- Bolze, Alexandre
- Bondarenko, Anastasiia
- Sediva, Anna
- Shcherbina, Anna
- Planas, Anna M.
- Condino-Neto, Antonio
- Pujol, Aurora
- Catherine, Biggs
- Flores, Carlos
- Rodríguez-Gallego, Carlos
- Prando, Carolina
- Dalgard, Clifton L.
- O'Farrelly, Cliona
- Roger, Colobran
- Mansouri, Davoud
- van de Beek, Diederik
- Vinh, Donald C.
- Hsieh, Elena
- Andreakos, Evangelos
- Haerynck, Filomeen
- Uddin, Furkan
- Casari, Giorgio
- Novelli, Giuseppe
- Pesole, Graziano
- Meyts, Isabelle
- Tancevski, Ivan
- Fellay, Jacques
- Tur, Jordi
- Kisand, Kai
- Okamoto, Keisuke
- Mironska, Kristina
- Abel, Laurent
- Renia, Laurent
- Ng, Lisa F.P.
- Shahrooei, Mohammed
- Soler-Palacín, Pere
- Brodin, Petter
- Pan-Hammarström, Qiang
- Halwani, Rabih
- Perez de Diego, Rebeca
- Al-Muhsen, Saleh
- Espinosa-Padilla, Sara
- Okada, Satoshi
- Ozcelik, Tayfun
- Tayoun, Ahmad Abou
- Karamitros, Timokratis
- Mogensen, Trine H.
- Lau, Yu-Lung
2021
Link zum Volltext
The Journal of experimental medicine, 2024-02, Vol.221 (2)
- Bastard, Paul
- Gervais, Adrian
- Taniguchi, Maki
- Saare, Liisa
- Särekannu, Karita
- Le Voyer, Tom
- Philippot, Quentin
- Rosain, Jérémie
- Bizien, Lucy
- Asano, Takaki
- Garcia-Prat, Marina
- Parra-Martínez, Alba
- Migaud, Mélanie
- Tsumura, Miyuki
- Conti, Francesca
- Belot, Alexandre
- Rivière, Jacques G
- Morio, Tomohiro
- Tanaka, Junko
- Javouhey, Etienne
- Haerynck, Filomeen
- Duvlis, Sotirija
- Ozcelik, Tayfun
- Keles, Sevgi
- Tandjaoui-Lambiotte, Yacine
- Escoda, Simon
- Husain, Maya
- Pan-Hammarström, Qiang
- Hammarström, Lennart
- Ahlijah, Gloria
- Abi Haidar, Anthony
- Soudee, Camille
- Arseguel, Vincent
- Abolhassani, Hassan
- Sahanic, Sabina
- Tancevski, Ivan
- Nukui, Yoko
- Hayakawa, Seiichi
- Chrousos, George P
- Michos, Athanasios
- Tatsi, Elizabeth-Barbara
- Filippatos, Filippos
- Rodriguez-Palmero, Agusti
- Troya, Jesus
- Tipu, Imran
- Meyts, Isabelle
- Roussel, Lucie
- Ostrowski, Sisse Rye
- Schidlowski, Laire
- Prando, Carolina
- Condino-Neto, Antonio
- Cheikh, Nathalie
- Bousfiha, Ahmed A
- El Bakkouri, Jalila
- Peterson, Pärt
- Pujol, Aurora
- Lévy, Romain
- Quartier, Pierre
- Vinh, Donald C
- Boisson, Bertrand
- Béziat, Vivien
- Zhang, Shen-Ying
- Borghesi, Alessandro
- Pession, Andrea
- Andreakos, Evangelos
- Marr, Nico
- Mentis, Alexios-Fotios A
- Mogensen, Trine H
- Rodríguez-Gallego, Carlos
- Soler-Palacin, Pere
- Colobran, Roger
- Tillmann, Vallo
- Neven, Bénédicte
- Trouillet-Assant, Sophie
- Brodin, Petter
- Abel, Laurent
- Jouanguy, Emmanuelle
- Zhang, Qian
- Martinón-Torres, Federico
- Salas, Antonio
- Gómez-Carballa, Alberto
- Gonzalez-Granado, Luis I
- Kisand, Kai
- Okada, Satoshi
- Puel, Anne
- Cobat, Aurélie
- Casanova, Jean-Laurent
2024
Link zum Volltext
Journal of allergy and clinical immunology, 2023-04, Vol.151 (4), p.832-840
- Bucciol, Giorgia
- Abel, Laurent
- Al-Muhsen, Salah
- Aiuti, Alessandro
- Al-Mulla, Fahd
- Andreakos, Evangelos
- Antonio, Novelli
- Arias, Andrés A.
- Trouillet-Assant, Sophie
- Belot, Alexandre
- Biggs, Catherine M.
- Bousfiha, Ahmed A.
- Bolze, Alex
- Borghesi, Alessandro
- Brodin, Petter
- Christodoulou, John
- Cobat, Aurélie
- Condino-Neto, Antonio
- Constantinescu, Stefan
- Dalgard, Clifton L.
- Espinosa-Padilla, Sara
- Fellay, Jacques
- Flores, Carlos
- Franco, José Luis
- Froidure, Antoine
- Gorochov, Guy
- Haerynck, Filomeen
- Halwani, Rabih
- Hsieh, Elena W.Y.
- Itan, Yuval
- Kisand, Kai
- Lau, Yu-Lung
- Mansouri, Davood
- Meyts, Isabelle
- Mogensen, Trine H.
- Ng, Lisa F.P.
- Notarangelo, Luigi D.
- Novelli, Giuseppe
- Okada, Satoshi
- Ozcelik, Tayfun
- Perez de Diego, Rebeca
- Prando, Carolina
- Pujol, Aurora
- Quintana-Murci, Lluis
- Renia, Laurent
- Resnick, Igor
- Roussel, Lucie
- Rodríguez-Gallego, Carlos
- Sancho-Shimizu, Vanessa
- Shahrooei, Mohammed
- Soler-Palacín, Pere
- Spaan, András N.
- Tancevski, Ivan
- Tangye, Stuart G.
- Tayoun, Ahmad Abou
- Temel, Şehime Gülsün
- Tiberghien, Pierre
- Tur, Jordi Perez
- Turvey, Stuart E.
- Uddin, Furkan
- Uddin, Mohammed J.
- Vidigal, Mateus
- Vinh, Donald C.
- Zatz, Mayana
- Okamoto, Keisuke
- Perlin, David S.
- Pesole, Graziano
- Thorball, Christian
- van de Beek, Diederik
- Colobran, Roger
- Wauters, Joost
- Zhang, Shen-Ying
- Zhang, Qian
- Su, Helen C.
- Casanova, Jean-Laurent
2023
Link zum Volltext
Journal of clinical immunology, 2022-10, Vol.42 (7), p.1354-1359
- Bolze, Alexandre
- Mogensen, Trine H.
- Zhang, Shen-Ying
- Abel, Laurent
- Andreakos, Evangelos
- Arkin, Lisa M.
- Borghesi, Alessandro
- Brodin, Petter
- Hagin, David
- Novelli, Giuseppe
- Okada, Satoshi
- Peter, Jonny
- Renia, Laurent
- Severe, Karine
- Tiberghien, Pierre
- Vinh, Donald C.
- Cirulli, Elizabeth T.
- Casanova, Jean-Laurent
- Hsieh, Elena W. Y.
2022
Link zum Volltext
Cell reports methods, 2023-08, Vol.3 (8), p.100543-100543, Article 100543
2023
Link zum Volltext
Elevated ASCL1 activity creates de novo regulatory elements associated with neuronal differentiation
2022
Link zum Volltext
Human mutation, 2018-11, Vol.39 (11), p.1593-1613
- Oza, Andrea M.
- DiStefano, Marina T.
- Hemphill, Sarah E.
- Cushman, Brandon J.
- Grant, Andrew R.
- Siegert, Rebecca K.
- Shen, Jun
- Chapin, Alex
- Boczek, Nicole J.
- Schimmenti, Lisa A.
- Murry, Jaclyn B.
- Hasadsri, Linda
- Nara, Kiyomitsu
- Kenna, Margaret
- Booth, Kevin T.
- Azaiez, Hela
- Griffith, Andrew
- Avraham, Karen B.
- Kremer, Hannie
- Rehm, Heidi L.
- Amr, Sami S.
- Abou Tayoun, Ahmad N.
2018
Link zum Volltext
Human mutation, 2018-11, Vol.39 (11), p.1517-1524
2018
Link zum Volltext
Molecular syndromology, 2016-09, Vol.7 (4), p.172-181
2016
Link zum Volltext
European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.612-620
2019
Link zum Volltext
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