P319: Expanding the phenotype of EIF3F-related neurodevelopmental disorder
Shad, Zohra, Mbonu, Prisca, Aguiar, Isabella, Hassan, Laiba, Repnikova, Elena
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie
Published in American journal of human genetics (02.04.2020)
Published in American journal of human genetics (02.04.2020)
Get full text
Journal Article
Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion
Shad, Zohra, Lindgren, Valerie, Durrin, Sarah, Chan, Jacqueline, Bellfield, Edward J., Boucher-Berry, Claudia
Published in Case reports in endocrinology (01.01.2016)
Published in Case reports in endocrinology (01.01.2016)
Get full text
Journal Article
Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features
Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Bertrand Isidor, Courraud, Jeremie, Frederic Tran Mau Them, Sellier, Chantal, Maria-Victoria Hinckelman, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angelique, Nolwenn Jean, Vanness, Paul, Grotto, Sarah, Nambot, Sophie, Ganka Douglas, Yue, Cindy Si, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet, Nicolas, Mandel, Jean-Louis, Piton, Amelie
Published in bioRxiv (04.12.2019)
Published in bioRxiv (04.12.2019)
Get full text
Paper