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Hathazi, Denisa, Cox, Dan, D'Amico, Adele, Tasca, Giorgio, Charlton, Richard, Carlier, Robert-Yves, Baumann, Jennifer, Kollipara, Laxmikanth, Zahedi, René P, Feldmann, Ingo et al (show 18 more authors) , Deleuze, Jean-Francois, Torella, Annalaura, Cohn, Ronald, Robinson, Emily, Ricci, Francesco, Jungbluth, Heinz, Fattori, Fabiana, Boland, Anne, O’Connor, Emily, Horvath, Rita, Barresi, Rita, Lochmüller, Hanns, Urtizberea, Andoni, Jacquemont, Marie-Line, Nelson, Isabelle, Swan, Laura ORCID: 0000-0002-6312-6263, Bonne, Gisèle and Roos, Andreas (2021) INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain, 144 (8). pp. 2427-2442.

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Bansagi, Boglarka, Phan, Vietxuan, Baker, Mark R, O'Sullivan, J, Jennings, Matthew J, Whittaker, Roger G, Mueller, Juliane S, Duff, Jennifer, Griffin, Helen, Miller, James et al (show 6 more authors) , Gorman, Grainne, Lochmuller, Hanns KL, Chinnery, Patrick F, Roos, Andreas, Swan, Laura E ORCID: 0000-0002-6312-6263 and Horvath, Rita (2018) Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. Neurology, 90 (21). e1842-e1848.