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Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.Nature Structural & Molecular Biology|February 25, 2026
Transposable element-gene chimera cartography, origination and role in enhancing transcriptome plasticityYoungseo Cheon, Erik Glen Alvstad, Denis Torre, et al.European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.Annals of Neurology|January 10, 2002
PARK6-linked parkinsonism occurs in several European familiesEnza Maria Valente, Francesco Brancati, Alessandro Ferraris, et al.Journal of Medical Genetics|February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndromeValentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 17, 2025
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe CriteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.Science (New York, N.Y.)|April 17, 2004
Hereditary early-onset Parkinson's disease caused by mutations in PINK1Enza Maria Valente, Patrick M Abou-Sleiman, Viviana Caputo, et al.European Journal of Medical Genetics|April 2, 2018
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndromeCarine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, et al.Orphanet Journal of Rare Diseases|January 13, 2012
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VIAndrea Poretti, Giuseppina Vitiello, Raoul C M Hennekam, et al.Neurology|October 19, 2012
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraineAlice R Gardiner, Kailash P Bhatia, Maria Stamelou, et al.Pageof 36