Fièvre méditerranéenne familiale : nouveaux phénotypes et mécanismes génétiques

Autor: Broly, Martin, Boursier, Guilaine, Touitou, Isabelle ^*

Publikováno v: In Bulletin de l'Académie Nationale de Médecine February 2024 208(2):199-207

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Autor: Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

Publikováno v: In The American Journal of Human Genetics 7 April 2022 109(4):587-600

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Autor: Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E.H., Volker-Touw, Catharina M.L., Gassen, Koen L.I. van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B.A. de, Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Jr., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P., Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B., Cohen, Lilian L., Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B., Beggs, Alan H., Yu, Timothy W.

Publikováno v: In Genetics in Medicine June 2021 23(6):1028-1040

A Proteome-Scale Map of the Human Interactome Network

Autor: Rolland, Thomas, Taşan, Murat, Charloteaux, Benoit, Pevzner, Samuel J., Zhong, Quan, Sahni, Nidhi, Yi, Song, Lemmens, Irma, Fontanillo, Celia, Mosca, Roberto, Kamburov, Atanas, Ghiassian, Susan D., Yang, Xinping, Ghamsari, Lila, Balcha, Dawit, Begg, Bridget E., Braun, Pascal, Brehme, Marc, Broly, Martin P., Carvunis, Anne-Ruxandra, Convery-Zupan, Dan, Corominas, Roser, Coulombe-Huntington, Jasmin, Dann, Elizabeth, Dreze, Matija, Dricot, Amélie, Fan, Changyu, Franzosa, Eric, Gebreab, Fana, Gutierrez, Bryan J., Hardy, Madeleine F., Jin, Mike, Kang, Shuli, Kiros, Ruth, Lin, Guan Ning, Luck, Katja, MacWilliams, Andrew, Menche, Jörg, Murray, Ryan R., Palagi, Alexandre, Poulin, Matthew M., Rambout, Xavier, Rasla, John, Reichert, Patrick, Romero, Viviana, Ruyssinck, Elien, Sahalie, Julie M., Scholz, Annemarie, Shah, Akash A., Sharma, Amitabh, Shen, Yun, Spirohn, Kerstin, Tam, Stanley, Tejeda, Alexander O., Wanamaker, Shelly A., Twizere, Jean-Claude, Vega, Kerwin, Walsh, Jennifer, Cusick, Michael E., Xia, Yu, Barabási, Albert-László, Iakoucheva, Lilia M., Aloy, Patrick, De Las Rivas, Javier, Tavernier, Jan, Calderwood, Michael A., Hill, David E., Hao, Tong, Roth, Frederick P., Vidal, Marc

Publikováno v: In Cell 20 November 2014 159(5):1212-1226

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Autor: Sleyp, Yoeri, Valenzuela, Irene, Accogli, Andrea, Ballon, Katleen, Ben-Zeev, Bruria, Berkovic, Samuel F., Broly, Martin, Callaerts, Patrick, Caylor, Raymond C., Charles, Perrine, Chatron, Nicolas, Cohen, Lior, Coppola, Antonietta, Cordeiro, Dawn, Cuccurullo, Claudia, Cuscó, Ivon, diMonda, Janette, Duran-Romaña, Ramon, Ekhilevitch, Nina, Fernández-Alvarez, Paula, Gordon, Christopher T., Isidor, Bertrand, Keren, Boris, Lesca, Gaetan, Maljaars, Jarymke, Mercimek-Andrews, Saadet, Morrow, Michelle M., Muir, Alison M., Rousseau, Frederic, Salpietro, Vincenzo, Scheffer, Ingrid E., Schnur, Rhonda E., Schymkowitz, Joost, Souche, Erika, Steyaert, Jean, Stolerman, Elliot S., Vengoechea, Jaime, Ville, Dorothée, Washington, Camerun, Weiss, Karin, Zaid, Rinat, Sadleir, Lynette G., Mefford, Heather C., Peeters, Hilde

Publikováno v: Genetics in Medicine; December 2022, Vol. 24 Issue: 12 p2464-2474, 11p