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2022
Butler-Laporte, Guillaume, Povysil, Gundula ORCID: 0000-0003-4625-5909, Kosmicki, Jack A., Cirulli, Elizabeth T., Drivas, Theodore
ORCID: 0000-0002-8717-0111, Furini, Simone
ORCID: 0000-0002-1099-8279, Saad, Chadi, Schmidt, Axel, Olszewski, Pawel, Korotko, Urszula
ORCID: 0000-0002-1779-8368, Quinodoz, Mathieu, Celik, Elifnaz, Kundu, Kousik, Walter, Klaudia, Jung, Junghyun, Stockwell, Amy D., Sloofman, Laura G., Jordan, Daniel M., Thompson, Ryan C., Del Valle, Diane, Simons, Nicole, Cheng, Esther, Sebra, Robert, Schadt, Eric E., Kim-Schulze, Seunghee, Gnjatic, Sacha, Merad, Miriam, Buxbaum, Joseph D., Beckmann, Noam D., Charney, Alexander W., Przychodzen, Bartlomiej, Chang, Timothy, Pottinger, Tess D., Shang, Ning, Brand, Fabian, Fava, Francesca, Mari, Francesca
ORCID: 0000-0003-1992-1654, Chwialkowska, Karolina, Niemira, Magdalena
ORCID: 0000-0002-0701-4961, Pula, Szymon, Baillie, J. Kenneth, Stuckey, Alex, Salas, Antonio
ORCID: 0000-0002-2336-702X, Bello, Xabier, Pardo-Seco, Jacobo, Gomez-Carballa, Alberto, Rivero-Calle, Irene, Martinon-Torres, Federico
ORCID: 0000-0002-9023-581X, Ganna, Andrea
ORCID: 0000-0002-8147-240X, Karczewski, Konrad J., Veerapen, Kumar, Bourgey, Mathieu
ORCID: 0000-0002-8432-834X, Bourque, Guillaume
ORCID: 0000-0002-3933-9656, Eveleigh, Robert Jm, Forgetta, Vincenzo, Morrison, David, Langlais, David
ORCID: 0000-0003-4429-0110, Lathrop, Mark, Mooser, Vincent, Nakanishi, Tomoko, Frithiof, Robert, Hultstrom, Michael, Lipcsey, Miklos, Marincevic-Zuniga, Yanara, Nordlund, Jessica, Barrett, Kelly M. Schiabor, Lee, William, Bolze, Alexandre, White, Simon, Riffle, Stephen, Tanudjaja, Francisco, Sandoval, Efren, Neveux, Iva, Dabe, Shaun, Casadei, Nicolas
ORCID: 0000-0003-2209-0580, Motameny, Susanne, Alaamery, Manal, Massadeh, Salam, Aljawini, Nora, Almutairi, Mansour S., Arabi, Yaseen M., Alqahtani, Saleh A., Al Harthi, Fawz S., Almutairi, Amal, Alqubaishi, Fatima, Alotaibi, Sarah, Binowayn, Albandari, Alsolm, Ebtehal A., El Bardisy, Hadeel, Fawzy, Mohammad, Cai, Fang, Soranzo, Nicole, Butterworth, Adam, Geschwind, Daniel H., Arteaga, Stephanie, Stephens, Alexis, Butte, Manish J., Boutros, Paul C., Yamaguchi, Takafumi N., Tao, Shu, Eng, Stefan
ORCID: 0000-0002-5245-6507, Sanders, Timothy, Tung, Paul J., Broudy, Michael E., Pan, Yu, Gonzalez, Alfredo, Chavan, Nikhil, Johnson, Ruth, Pasaniuc, Bogdan, Yaspan, Brian, Smieszek, Sandra, Rivolta, Carlo, Bibert, Stephanie, Bochud, Pierre-Yves, Dabrowski, Maciej
ORCID: 0000-0003-4150-3985, Zawadzki, Pawel, Sypniewski, Mateusz
ORCID: 0000-0002-0108-0255, Kaja, Elzbieta
ORCID: 0000-0003-1277-6140, Chariyavilaskul, Pajaree, Nilaratanakul, Voraphoj, Hirankarn, Nattiya, Shotelersuk, Vorasuk, Pongpanich, Monnat, Phokaew, Chureerat
ORCID: 0000-0002-4246-2604, Chetruengchai, Wanna, Tokunaga, Katsushi, Sugiyama, Masaya, Kawai, Yosuke, Hasegawa, Takanori, Naito, Tatsuhiko, Namkoong, Ho, Edahiro, Ryuya, Kimura, Akinori, Ogawa, Seishi, Kanai, Takanori, Fukunaga, Koichi, Okada, Yukinori, Imoto, Seiya, Miyano, Satoru, Mangul, Serghei, Abedalthagafi, Malak S., Zeberg, Hugo
ORCID: 0000-0001-7118-1249, Grzymski, Joseph J., Washington, Nicole L., Ossowski, Stephan
ORCID: 0000-0002-7416-9568, Ludwig, Kerstin U., Schulte, Eva C., Riess, Olaf, Moniuszko, Marcin, Kwasniewski, Miroslaw, Mbarek, Hamdi, Ismail, Said I., Verma, Anurag, Goldstein, David B., Kiryluk, Krzysztof, Renieri, Alessandra, Ferreira, Manuel A. R. and Richards, J. Brent
(2022).
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
PLoS Genet., 18 (11).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7404
2021
Hofmeister, Benedikt, von Stuelpnagel, Celina, Betzler, Cornelia, Mari, Francesca ORCID: 0000-0003-1992-1654, Renieri, Alessandra
ORCID: 0000-0002-0846-9220, Baldassarri, Margherita, Haberlandt, Edda, Jansen, Katrien, Schilling, Stefan, Weber, Peter, Ahlbory, Katja, Tang, Shan, Berweck, Steffen and Kluger, Gerhard
(2021).
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.
Neuropediatrics, 52 (2).
S. 109 - 123.
STUTTGART:
GEORG THIEME VERLAG KG.
ISSN 1439-1899
2013
Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Boegershausen, Nina, Beleggia, Filippo
ORCID: 0000-0003-0234-7094, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel
ORCID: 0000-0002-0680-200X, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin
ORCID: 0000-0003-0683-9731, Kayserili, Hulya
ORCID: 0000-0003-0376-499X, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Caliebe, Almuth
ORCID: 0000-0003-2157-425X, Chrzanowska, Krystyna
ORCID: 0000-0003-3888-0624, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina
ORCID: 0000-0002-9254-0084, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata
ORCID: 0000-0001-8721-210X, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas
ORCID: 0000-0001-5426-9417, Mari, Francesca
ORCID: 0000-0003-1992-1654, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita
ORCID: 0000-0003-2930-3163, Renieri, Alessandra
ORCID: 0000-0002-0846-9220, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane
ORCID: 0000-0001-8002-2020, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael and Wollnik, Bernd
(2013).
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum. Mol. Genet., 22 (25).
S. 5121 - 5136.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083