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Journal of Medical Genetics|January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizuresRuxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.American Journal of Human Genetics|May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disabilityMuzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.American Journal of Human Genetics|December 17, 2009
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardationAsif Mir, Liana Kaufman, Abdul Noor, et al.American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.American Journal of Human Genetics|July 19, 2011
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disabilityMuhammad Arshad Rafiq, Andreas W Kuss, Lucia Puettmann, et al.Journal of Medical Genetics|June 21, 2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityR Bachmann-Gagescu, J C Dempsey, I G Phelps, et al.American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophyKarina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.Journal of Medical Genetics|October 22, 2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.Pageof 7