Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl DM, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol. 1997;12(7):423–30.
Article
CAS
Google Scholar
Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet. 2007;15(5):511–21.
Article
CAS
Google Scholar
Poretti A, Snow J, Summers AC, Tekes A, Huisman T, Aygun N, Carson KA, Doherty D, Parisi MA, Toro C, et al. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet. 2017;54(8):521–9.
Article
CAS
Google Scholar
Yin Y, Bangs F, Paton IR, Prescott A, James J, Davey MG, Whitley P, Genikhovich G, Technau U, Burt DW, et al. The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation. Development. 2009;136(4):655–64.
Article
CAS
Google Scholar
Bangs F, Antonio N, Thongnuek P, Welten M, Davey MG, Briscoe J, Tickle C. Generation of mice with functional inactivation of talpid3, a gene first identified in chicken. Development. 2011;138(15):3261–72.
Article
CAS
Google Scholar
Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1998;5(1):31–9.
Article
CAS
Google Scholar
Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenco C, Arslan M, Shendure J, et al. KIAA0586 is mutated in Joubert syndrome. Hum Mutat. 2015;36(9):831–5.
Article
CAS
Google Scholar
Alby C, Piquand K, Huber C, Megarbane A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessieres B, et al. Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome. Am J Hum Genet. 2015;97(2):311–8.
Article
CAS
Google Scholar
Cocciadiferro D, Agolini E, Digilio MC, Sinibaldi L, Castori M, Silvestri E, Dotta A, Dallapiccola B, Novelli A. The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: a case report and literature review. Medicine. 2020;99(8):e19169.
Article
Google Scholar
Wang T, Xuan Z, Dou Y, Liu Y, Fu Y, Ren J, Lu L. Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing. Mol Genet Genomic Med. 2019;7(6):e690.
Article
Google Scholar
Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18(11):1090–6.
Article
CAS
Google Scholar
Stephen LA, Tawamie H, Davis GM, Tebbe L, Nurnberg P, Nurnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S et al: TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). Elife. 2015; 4.
Sumathipala D, Stromme P, Gilissen C, Einarsen IH, Bjorndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, et al. Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. BMC Med Genet. 2020;21(1):96.
Article
CAS
Google Scholar
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015;4:e06602.
Article
Google Scholar
Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, et al. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. J Med Genet. 2015;52(12):830–9.
Article
CAS
Google Scholar
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, et al. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet. 2015;47(11):1363–9.
Article
CAS
Google Scholar
Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, et al. Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. Am J Med Genet A. 2017;173(7):1796–812.
Article
Google Scholar
Shen Y, Wang H, Liu Z, Luo M, Ma S, Lu C, Cao Z, Yu Y, Cai R, Chen C, et al. Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome. BMC Med Genet. 2020;21(1):192.
Article
CAS
Google Scholar
Yang H, Robinson PN, Wang K. Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nat Methods. 2015;12(9):841–3.
Article
CAS
Google Scholar
Fromer M, Purcell SM. Using XHMM software to detect copy number variation in whole-exome sequencing data. Curr Protoc Hum Genet. 2014;81:7–23.
Google Scholar
Kerkhof J, Schenkel LC, Reilly J, McRobbie S, Aref-Eshghi E, Stuart A, Rupar CA, Adams P, Hegele RA, Lin H, et al. Clinical validation of copy number variant detection from targeted next-generation sequencing panels. J Mol Diagn JMD. 2017;19(6):905–20.
Article
CAS
Google Scholar
Kosugi S, Momozawa Y, Liu X, Terao C, Kubo M, Kamatani Y. Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing. Genome Biol. 2019;20(1):117.
Article
Google Scholar
Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes. Genet Med Off J Am Coll Med Genet. 2019;21(1):114–23.
CAS
Google Scholar
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838–46.
Article
CAS
Google Scholar