Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rajaa, Fathallah"'
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Autor:
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 2, Pp 1-19 (2023)
Abstract Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non‐coding regions, which make up 98% of the genome, cannot be captured. The lack of functional ann
Externí odkaz:
https://doaj.org/article/921d307af59a483894117f4547a0983f
Autor:
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Poh Hui Chia, Ricardo Moreno Traspas, Nathalie Escande-Beillard, Carine Bonnard, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Mohammad Shboul, Andreas Mayer, Bruno Reversade
Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non-coding regions, which make up 98% of the genome, cannot be captured. The lack of functional annotation for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6e27350a757dbaae6b7f30d93ad9ccb
https://doi.org/10.1101/2022.07.15.22276800
https://doi.org/10.1101/2022.07.15.22276800
Autor:
Jamie, Trott, Yunus, Alpagu, Ee Kim, Tan, Mohammad, Shboul, Yousif, Dawood, Michael, Elsy, Heike, Wollmann, Vincent, Tano, Carine, Bonnard, Shermaine, Eng, Gunaseelan, Narayanan, Seetanshu, Junnarkar, Stephen, Wearne, James, Strutt, Aakash, Kumar, Lucian B, Tomaz, Pierre-Alexis, Goy, Slim, Mzoughi, Rachel, Jennings, Jaco, Hagoort, Ascia, Eskin, Hane, Lee, Stanley F, Nelson, Fawaz, Al-Kazaleh, Mohammad, El-Khateeb, Rajaa, Fathallah, Harsha, Shah, Jonathan, Goeke, Sarah R, Langley, Ernesto, Guccione, Neil, Hanley, Bernadette S, De Bakker, Bruno, Reversade, N Ray, Dunn
Publikováno v:
Development (Cambridge, England). 147(21)
Mitchell-Riley syndrome (MRS) is caused by recessive mutations in the regulatory factor X6 gene (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5f977b2d81a6d953ebaae742dbb2a49d
https://pubmed.ncbi.nlm.nih.gov/33033118
https://pubmed.ncbi.nlm.nih.gov/33033118