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Journal Article
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
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
Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Catucci, Irene, Colombo, Mara
ORCID: 0000-0001-5465-354X, Caleca, Laura
ORCID: 0000-0002-3381-7493, Mucaki, Eliseos, Bogliolo, Massimo
ORCID: 0000-0001-8240-7784, Marin, Maria, Damiola, Francesca
ORCID: 0000-0002-0238-1252, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald
ORCID: 0000-0002-3595-9188, Sornin, Valerie, Dondon, Marie-Gabrielle
ORCID: 0000-0001-6016-8524, Eon-Marchais, Severine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina
ORCID: 0000-0001-9036-960X, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio
ORCID: 0000-0002-7410-8351, Medici, Veronica, Marchi, Isabella, Federico, Massimo
ORCID: 0000-0002-5074-3262, Tognazzo, Silvia
ORCID: 0000-0002-6260-1261, Matricardi, Laura
ORCID: 0000-0002-0241-1810, Agata, Simona, Dolcetti, Riccardo
ORCID: 0000-0003-1625-9853, Della Puppa, Lara, Cini, Giulia
ORCID: 0000-0002-8696-8922, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard
ORCID: 0000-0001-9233-3571, Roversi, Gaia, Silvestri, Valentina
ORCID: 0000-0003-0712-9379, Rizzolo, Piera
ORCID: 0000-0002-3421-1485, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana
ORCID: 0000-0002-0671-0244, Tommasi, Stefania
ORCID: 0000-0002-2157-2978, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana
ORCID: 0000-0001-8124-3984, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra
ORCID: 0000-0002-0846-9220, Varesco, Liliana
ORCID: 0000-0003-4871-6668, Couch, Fergus J., Wang, Xianshu, Devilee, Peter
ORCID: 0000-0002-8023-2009, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra
ORCID: 0000-0003-2804-0840, Montagna, Marco, Cortesi, Laura
ORCID: 0000-0001-8950-8561, Diez, Orland, Balmana, Judith
ORCID: 0000-0002-0762-6415, Hauke, Jan, Schmutzler, Rita K., Papi, Laura
ORCID: 0000-0003-4552-9517, Angel Pujana, Miguel, Lazaro, Conxi, Falanga, Anna
ORCID: 0000-0002-5007-3457, Offit, Kenneth, Vijai, Joseph, Campbell, Ian
ORCID: 0000-0002-7773-4155, Burwinkel, Barbara, Kvist, Anders
ORCID: 0000-0002-1358-0695, Ehrencrona, Hans
ORCID: 0000-0002-5589-3622, Mazoyer, Sylvie
ORCID: 0000-0002-2135-0160, Pizzamiglio, Sara
ORCID: 0000-0002-7759-0550, Verderio, Paolo
ORCID: 0000-0002-9231-1281, Surralles, Jordi
ORCID: 0000-0002-4041-7519, Rogan, Peter K. and Radice, Paolo
ORCID: 0000-0001-6298-4111
(2015).
FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum. Mol. Genet., 24 (18).
S. 5345 - 5356.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
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