Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
American Journal Of Human Genetics
Hall, Emma A EA; Nahorski, Michael S MS; Murray, Lyndsay M LM; Shaheen, Ranad R; Perkins, Emma E; Dissanayake, Kosala N KN; Kristaryanto, Yosua Y; Jones, Ross A RA; Vogt, Julie J; Rivagorda, Manon M; Handley, Mark T MT; Mali, Girish R GR; Quidwai, Tooba T; Soares, Dinesh C DC; Keighren, Margaret A MA; McKie, Lisa L; Mort, Richard L RL; Gammoh, Noor N; Garcia-Munoz, Amaya A; Davey, Tracey T; Vermeren, Matthieu M; Walsh, Diana D; Budd, Peter P; Aligianis, Irene A IA; Faqeih, Eissa E; Quigley, Alan J AJ; Jackson, Ian J IJ; Kulathu, Yogesh Y; Jackson, Mandy M; Ribchester, Richard R RR; von Kriegsheim, Alex A; Alkuraya, Fowzan S FS; Woods, C Geoffrey CG; Maher, Eamonn R ER; Mill, Pleasantine P