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Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; ... (2024). Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), p. 1032. Springer Nature 10.1038/s41431-024-01659-y
Pignatti, Emanuele; Slone, Jesse; Gómez Cano, María Ángeles; Campbell, Teresa Margaret; Vu, Jimmy; Sauter, Kay-Sara; Pandey, Amit V; Martínez-Azorín, Francisco; Alonso-Riaño, Marina; Neilson, Derek E; Longo, Nicola; du Toit, Therina; Voegel, Clarissa D; Huang, Taosheng; Flück, Christa E (2024). FDXR variants cause adrenal insufficiency and atypical sexual development. JCI insight, 9(14) JCI Insight 10.1172/jci.insight.179071
