Emergence and Diversification of Dengue 2 Cosmopolitan Genotype in Pakistan, 2011

por Khan, Mohammad A., Ellis, Esther M., Tissera, Hasitha A., Alvi, Mohammad Y., Rahman, Fatima F., Masud, Faisal, Chow, Angelia, Howe, Shiqin, Dhanasekaran, Vijaykrishna, Ellis, Brett R., Gubler, Duane J.
Publicado 2013

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

por Maroofian, Reza, Efthymiou, Stephanie, Suri, Mohnish, Rahman, Fatima, Zaki, Maha S, Maqbool, Shazia, Anwa, Najwa, Ruiz-Pérez, Victor L, Yanovsky-Dagan, Shira, Elpeleg, Orly, Sudhakar, Sniya, Mankad, Kshitij, Harel, Tamar, Houlden, Henry
Publicado 2023

Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies

por Kim, Hanna, Gunter-Rahman, Fatima, McGrath, John A., Lee, Esther, de Jesus, Adriana A., Targoff, Ira N., Huang, Yan, O’Hanlon, Terrance P., Tsai, Wanxia L., Gadina, Massimo, Miller, Frederick W., Goldbach-Mansky, Raphaela, Rider, Lisa G.
Publicado 2020

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

por Zaki, Maha S., Accogli, Andrea, Mirzaa, Ghayda, Rahman, Fatima, Mohammed, Hiba, Porras-Hurtado, Gloria Liliana, Efthymiou, Stephanie, Maqbool, Shazia, Shukla, Anju, Vincent, John B., Hussain, Abrar, Mir, Asif, Beetz, Christian, Leubauer, Anika, Houlden, Henry, Gleeson, Joseph G., Maroofian, Reza
Publicado 2021

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

por Efthymiou, Stephanie, Herman, Isabella, Rahman, Fatima, Anwar, Najwa, Maroofian, Reza, Yip, Janice, Mitani, Tadahiro, Calame, Daniel G., Hunter, Jill V., Sutton, V. Reid, Yilmaz Gulec, Elif, Duan, Ruizhi, Fatih, Jawid M., Marafi, Dana, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Maqbool, Shazia, Lupski, James R., Houlden, Henry
Publicado 2021

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

por De Nittis, Pasquelena, Efthymiou, Stephanie, Sarre, Alexandre, Guex, Nicolas, Chrast, Jacqueline, Putoux, Audrey, Sultan, Tipu, Raza Alvi, Javeria, ur Rahman, Zia, Zafar, Faisal, Rana, Nuzhat, Rahman, Fatima, Anwar, Najwa, Maqbool, Shazia, Zaki, Maha S, Gleeson, Joseph G, Murphy, David, Galehdari, Hamid, Shariati, Gholamreza, Mazaheri, Neda, Sedaghat, Alireza, Lesca, Gaetan, Chatron, Nicolas, Salpietro, Vincenzo, Christoforou, Marilena, Houlden, Henry, Simonds, William F, Pedrazzini, Thierry, Maroofian, Reza, Reymond, Alexandre
Publicado 2021

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

por Sczakiel, Henrike L., Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B., Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G., Lupski, James R., Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix
Publicado 2023

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

por Padhi, Evin M., Hayeck, Tristan J., Cheng, Zhang, Chatterjee, Sumantra, Mannion, Brandon J., Byrska-Bishop, Marta, Willems, Marjolaine, Pinson, Lucile, Redon, Sylvia, Benech, Caroline, Uguen, Kevin, Audebert-Bellanger, Séverine, Le Marechal, Cédric, Férec, Claude, Efthymiou, Stephanie, Rahman, Fatima, Maqbool, Shazia, Maroofian, Reza, Houlden, Henry, Musunuri, Rajeeva, Narzisi, Giuseppe, Abhyankar, Avinash, Hunter, Riana D., Akiyama, Jennifer, Fries, Lauren E., Ng, Jeffrey K., Mehinovic, Elvisa, Stong, Nick, Allen, Andrew S., Dickel, Diane E., Bernier, Raphael A., Gorkin, David U., Pennacchio, Len A., Zody, Michael C., Turner, Tychele N.
Publicado 2021

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

por Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian G E L, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, P Y Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud Y, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza
Publicado 2023

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

por Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan
Publicado 2021

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

por Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., de la Cruz, Xavier, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian A., Akizu, Naiara
Publicado 2023

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

por Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yeşil, Gözde, Alavi, Shahryar, Al Shamsi, Aisha M, Tajsharghi, Homa, Abdel-Hamid, Mohamed S, Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schöneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E, Marom, Daphna, Elhanan, Emil, Kurian, Manju A, Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Jürgen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayça Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskär, Katarina, Al Aqeel, Aida I, High, Frances A, Armstrong-Javors, Amy E, Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A, Ghavideldarestani, Maryam, Kamel, Walaa A, Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C, Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J, Alkuraya, Fowzan Sami, Lupski, James R, Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K, Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina
Publicado 2023