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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy LocusJEONG HO LEE; SILHAVY, Jennifer L; GABRIEL, Stacey B et al.Science (Washington, D.C.). 2012, Vol 335, Num 6071, pp 966-969, issn 0036-8075, 4 p.Article

Mutations in TMEM231 cause Joubert syndrome in French CanadiansSROUR, Myriam; HAMDAN, Fadi F; MASSICOTTE, Christine et al.Journal of medical genetics. 2012, Vol 49, Num 10, pp 636-641, issn 0022-2593, 6 p.Article

Self-Reported Sleep and Breathing Disturbances in Joubert SyndromeKAMDAR, Biren B; NANDKUMAR, Preeya; KRISHNA, Vidya et al.Pediatric neurology. 2011, Vol 45, Num 6, pp 395-399, issn 0887-8994, 5 p.Article

The Face of Joubert Syndrome : A Study of Dysmorphology and AnthropometryBRADDOCK, Stephen R; HENLEY, Kimberly M; MARIA, Bernard L et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 24, pp 3235-3242, issn 1552-4825, 8 p.Article

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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndromePARISI, Melissa A; BENNETT, Craig L; ECKERT, Melissa L et al.American journal of human genetics. 2004, Vol 75, Num 1, pp 82-91, issn 0002-9297, 10 p.Article

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyriaDIXON-SALAZAR, Tracy; SILHAVY, Jennifer L; GLEESON, Joseph G et al.American journal of human genetics. 2004, Vol 75, Num 6, pp 979-987, issn 0002-9297, 9 p.Article

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JOUBERT SYNDROME OVERLAPPING WITH DANDY-WALKER MALFORMATIONBOZKURT, O; SARI, F. Nur; DIZDAR, E. Alyamaç et al.Genetic counseling. 2014, Vol 25, Num 1, pp 75-76, issn 1015-8146, 2 p.Article

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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert SyndromeCANTAGREL, Vincent; SILHAVY, Jennifer L; TRAVER, David et al.American journal of human genetics. 2008, Vol 83, Num 2, pp 170-179, issn 0002-9297, 10 p.Article

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeARTS, Heleen H; DOHERTY, Dan; OZYUREK, Hamit et al.Nature genetics. 2007, Vol 39, Num 7, pp 882-888, issn 1061-4036, 7 p.Article

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4SAYER, John A; OTTO, Edgar A; UTSCH, Boris et al.Nature genetics. 2006, Vol 38, Num 6, pp 674-681, issn 1061-4036, 8 p.Article

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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJI EUN LEE; SILHAVY, Jennifer L; SCHLOSSMAN, Andrew M et al.Nature genetics. 2012, Vol 44, Num 2, pp 193-199, issn 1061-4036, 7 p.Article

Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR FindingHARTING, I; KOTZAERIDOU, U; PORETTI, A et al.American journal of neuroradiology. 2011, Vol 32, Num 7, pp 1286-1289, issn 0195-6108, 4 p.Article

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition ZoneHUANG, Lijia; SZYMANSKA, Katarzyna; GREENBERG, Cheryl R et al.American journal of human genetics. 2011, Vol 89, Num 6, pp 713-730, issn 0002-9297, 18 p.Article