Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Autor: Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, II, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., Varshney, Gaurav K.

Publikováno v: In Genetics in Medicine October 2021 23(10):1933-1943

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Chapter 16 - Pediatric leukodystrophies

Autor: Renaud, Deborah L.

Publikováno v: In Advances in Magnetic Resonance Technology and Applications 2023 9:405-424

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

Autor: Comeaux, Matthew S., Wang, Jing, Wang, Guoli, Kleppe, Soledad, Zhang, Victor Wei, Schmitt, Eric S., Craigen, William J., Renaud, Deborah, Sun, Qin, Wong, Lee-Jun

Publikováno v: In Molecular Genetics and Metabolism July 2013 109(3):260-268

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Autor: Schirwani, Schaida, Albaba,Shadi, Carere, Deanna Alexis, Guillen Sacoto, Maria J., Milan Zamora, Francisca, Si Yue, Rabin, Rachel, Pappas, John, Renaud, Deborah L., Hauser, Natalie, Reid, Evan, Blanchet, Patricia, Foulds, Nichola, Dixit, Abhijit, Fisher, Richard, Armstrong, Ruth, Isidor, Bertrand, Cogne, Benjamin, Vergano, Samantha Schrier, Demirdas, Serwet, Dykzeul, Natalie, Cohen, Julie S., Grand, Katheryn, Morel, Dayna, Slavotinek, Anne, Albassam, Hessa F., Naik, Swati, Dean, John, Ragge, Nicola, Cinzia, Costa, Tedesco, Maria Giovanna, Harrison, Rachel E., Bouman, Arjan, Palen, Emily, Challman, Thomas D., Willemsen, Marjolein H., Vogt, Julie, Cunniff, Christopher, Bergstrom, Katherine, Walia, Jagdeep S., Bruel, Ange-Line, Kini, Usha, Alkuraya, Fowzan S., Slegesky, Valerie, Meeks, Naomi, Girotto, Paula, Johnson, Diana, DDD study, Newbury-Ecob, Ruth, Ockeloen, Charlotte W., Prontera, Paolo, Lynch, Sally Ann, Li Dong, Graham, John M., Jr., Balasubramanian Meena

Purpose. The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. Methods. In this international collaborative study, we have undertaken a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c517d00fb1875dd32e4ef80322fdd326