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| 28626029 | A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. | J Med Genet | 2018 |
| 30178464 | Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. | Ann Neurol | 2018 |
| 30013181 | Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. | Nat Genet | 2018 |
| 29093066 | Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. | Neurology | 2017 |
| 28280135 | Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. | J Med Genet | 2017 |
| 28343629 | Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. | Am J Hum Genet | 2017 |
| 28092684 | Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. | Nat Genet | 2017 |
| 27245168 | Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. | Hum Genet | 2016 |
| 27773428 | Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. | Am J Hum Genet | 2016 |
| 26026149 | Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. | Elife | 2015 |
| 25848753 | Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. | Nat Genet | 2015 |
| 24482476 | Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. | Science | 2014 |
| 24766810 | CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. | Cell | 2014 |
| 24360807 | Mutations in CSPP1 lead to classical Joubert syndrome. | Am J Hum Genet | 2014 |
| 23386033 | Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. | Eur J Hum Genet | 2013 |
| 23911318 | AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. | Cell | 2013 |
| 23472759 | Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. | Am J Hum Genet | 2013 |
| 22246503 | CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | Nat Genet | 2012 |
| 22973972 | A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. | BMC Med Genet | 2012 |
| 22956686 | Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. | Science | 2012 |
| 22700954 | Exome sequencing can improve diagnosis and alter patient management. | Sci Transl Med | 2012 |
| 22729223 | De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. | Nat Genet | 2012 |
| 22895590 | Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. | Neurology | 2012 |
| 22587682 | A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. | Orphanet J Rare Dis | 2012 |
| 22282472 | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. | Science | 2012 |
| 20971220 | Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. | Eur J Med Genet | 2011 |
| 21623382 | Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. | Nat Med | 2011 |
| 20637498 | SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. | Cell | 2010 |
| 20512146 | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | Nat Genet | 2010 |
| 19718039 | Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. | Nat Med | 2009 |
| 19668216 | Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. | Nat Genet | 2009 |
| 18268248 | The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. | Neurology | 2008 |
| 18565097 | RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. | Clin Genet | 2008 |
| 18674751 | Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. | Am J Hum Genet | 2008 |
| 17564967 | CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. | Am J Hum Genet | 2007 |
| 16682970 | Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. | Nat Genet | 2006 |
| 16453322 | AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. | Ann Neurol | 2006 |
| 15375138 | Complete genomic sequence of bacteriophage B3, a Mu-like phage of Pseudomonas aeruginosa. | J Bacteriol | 2004 |
| 15467982 | Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. | Am J Hum Genet | 2004 |