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The EMBO Journal|December 28, 2020
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagyManuela Morleo, Simona Brillante, Umberto Formisano, et al.Iscience|May 30, 2023
Single-cell proteo-genomic reveals a comprehensive map of centrosome-associated spliceosome componentsLuigi Cerulo, Nunziana Pezzella, Francesca Pia Caruso, et al.Orphanet Journal of Rare Diseases|June 3, 2014
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyEnnio Del Giudice, Marina Macca, Floriana Imperati, et al.Journal of the American Society of Nephrology : JASN|February 22, 2003
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cellsLeila Romio, Victoria Wright, Karen Price, et al.American Journal of Physiology. Gastrointestinal and Liver Physiology|April 28, 2020
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine modelsEstanislao Peixoto, Sujeong Jin, Kristen Thelen, et al.Frontiers in Cell and Developmental Biology|November 14, 2025
Early increased cell proliferation compensates subsequent hypoplasia of the ossicleKatsushige Kawasaki, Maiko Kawasaki, Finsa Tisna Sari, et al.American Journal of Human Genetics|November 6, 2012
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseAlessia Indrieri, Vanessa Alexandra van Rahden, Valeria Tiranti, et al.Human Mutation|June 17, 2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Ilse Wieland, William Reardon, Sibylle Jakubiczka, et al.The Journal of Clinical Investigation|April 3, 2014
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediatorsYangfan P Liu, I-Chun Tsai, Manuela Morleo, et al.European Journal of Human Genetics : EJHG|April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationsAlfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.Pageof 10