Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Keywords

Mathematics, Bounded function, Korteweg–de Vries equation, Compressibility, Mathematical analysis

References

• INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouseMonique Jacoby, James J. Cox, Stéphanie Gayral — 2009
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• Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencingEmily Hodges, Michelle Rooks, Zhenyu Xuan — 2009
• Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas — 2008
• OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.Karlien L. M. Coene, Ronald Roepman, Dan Doherty — 2009
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Cited by

• The genetic nomenclature of recessive cerebellar ataxiasMalco Rossi, Mathieu Anheim, Alexandra Dürr — 2018
• Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationJosé María Rodríguez-Vigil Reguera — 2016
• Molecular genetic analysis of familial congenital heart diseaseChirag Patel — 2013
• Next generation sequencing methodologies--an overview.William Owen Pickrell, Mark I. Rees, Seo‐Kyung Chung — 2012
• Zebrafish models of cystic kidney disease related ciliopathiesRoslyn Simms — 2013
• Unraveling the genetics of Joubert and Meckel-Gruber syndromesKatarzyna Szymańska, Verity Hartill, Colin A. Johnson — 2014
• Molecular genetics and cell biology of ciliopathiesK. Szymanska — 2015
• Carrier frequency of two BBS2 mutations in the Ashkenazi populationAnastasia Fedick, Chaim Jalas, Dvora Abeliovich — 2014
• Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.Cordula Knopp, Sabine Rudnik‐Schöneborn, Thomas Eggermann — 2015
• Using yeast to study neurodegenerative diseases : amyloid formation as a protective mechanism and a new Alzheimer's disease modelS. Treusch — 2011
• A universal carrier test for the long tail of Mendelian disease.Balaji S. Srinivasan, Eric Evans, Jason Flannick — 2010
• Normal cognitive functions in joubert syndrome.Andrea Poretti, Fabienne Dietrich Alber, Francesco Brancati — 2009
• A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi JewsSimon Edvardson, Chaim Jalas, Avraham Shaag — 2011
• Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.Anaïs Mockel, Yaumara Perdomo, Fanny Stutzmann — 2011
• Craniofacial ciliopathies: a new classification for craniofacial disordersSamantha A. Brugmann, Dwight R. Cordero, Jill A. Helms — 2010
• Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseasesTautvydas Rančelis, Loreta Cimbalistienė, Vaidutis Kučinskas — 2013
• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli — 2010
• Exome sequencing: what clinicians need to knowLeandro Sastre — 2014
• Blood Ties: Chimerism Can Mask Twin Discordance in High-Throughput SequencingYaniv Erlich — 2011
• The molecular basis of human retinal and vitreoretinal diseases.Wolfgang Berger, Barbara Kloeckener‐Gruissem, John Neidhardt — 2010

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