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Items: 1 to 20 of 37

1.
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome
Fulvio D’Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, Jessica Garau, Luca Cattaneo, Monica Boggioni, Simone Gana, Roberta Battini, Enrico Bertini, Ginevra Zanni, Eugen Boltshauser, Renato Borgatti, Romina Romaniello, Sabrina Signorini, Vincenzo Leuzzi, Caterina Caputi, Filippo Manti, Stefano D’Arrigo, Arianna De Laurentiis, Claudio Graziano, Johannes R. Lemke, Federica Morelli, Danijela Petković Ramadža, Fabio Sirchia, Elisa Giorgio, Enza Maria Valente
Eur J Hum Genet. 2025 Jan; 33(1): 72–79. Published online 2024 Oct 11. doi: 10.1038/s41431-024-01703-x
PMCID:
PMC11711660
ArticlePDF–1.2M
2.
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Thierry Vilboux, Daniel A. Doherty, Ian A. Glass, Melissa A. Parisi, Ian G. Phelps, Andrew R. Cullinane, Wadih Zein, Brian P. Brooks, Theo Heller, Ariane Soldatos, Neal L. Oden, Deniz Yildirimli, Meghana Vemulapalli, James C. Mullikin, NISC Comparative Sequencing Program, May Christine V. Malicdan, William A. Gahl, Meral Gunay-Aygun
Genet Med. Author manuscript; available in PMC 2024 Nov 1.
Published in final edited form as: Genet Med. 2017 Aug; 19(8): 875–882. Published online 2017 Jan 26. doi: 10.1038/gim.2016.204
PMCID:
PMC11528337
ArticlePDF–825K
3.
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome
Desirée Deconte, Bruna Lixinski Diniz, Jéssica K. Hartmann, Mateus A. de Souza, Laira F. F. Zottis, Paulo Ricardo Gazzola Zen, Rafael F. M. Rosa, Marilu Fiegenbaum
Int J Mol Sci. 2024 Jul; 25(14): 7900. Published online 2024 Jul 19. doi: 10.3390/ijms25147900
PMCID:
PMC11277298
ArticlePDF–628K
4.
A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement
Qian Li, Qianying Liu, Suwen Liu, Lichun Yu, Zhenle Yang, Cong Wang, Jing Wang, Shuzhen Sun
BMC Pediatr. 2023; 23: 590. Published online 2023 Nov 23. doi: 10.1186/s12887-023-04415-1
PMCID:
PMC10666333
ArticlePDF–1.0M
5.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
J Med Genet. 2023 Sep; 60(9): 885–893. Published online 2023 Feb 14. doi: 10.1136/jmg-2022-108725
PMCID:
PMC10447400
ArticlePDF–3.8M
6.
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Orphanet J Rare Dis. 2023; 18: 101. Published online 2023 May 2. doi: 10.1186/s13023-023-02706-5
PMCID:
PMC10155342
ArticlePDF–1.1M
7.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Proc Natl Acad Sci U S A. 2023 Feb 28; 120(9): e2102569120. Published online 2023 Feb 21. doi: 10.1073/pnas.2102569120
PMCID:
PMC9992838
ArticlePDF–3.2M
8.
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome
Yue Shen, Chao Lu, Tingting Cheng, Zongfu Cao, Cuixia Chen, Xu Ma, Huafang Gao, Minna Luo
BMC Med Genomics. 2023; 16: 4. Published online 2023 Jan 12. doi: 10.1186/s12920-023-01438-6
PMCID:
PMC9838056
ArticlePDF–2.1M
9.
The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies
Julie C. Van De Weghe, Arianna Gomez, Dan Doherty
Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2022 Sep 2.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2022 Aug 31; 23: 301–329. Published online 2022 Jun 2. doi: 10.1146/annurev-genom-121321-093528
PMCID:
PMC9437135
ArticlePDF–2.1M
10.
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Dae Joong Ma, Hyun-Seob Lee, Kwangsoo Kim, Seongmin Choi, Insoon Jang, Seo-Ho Cho, Chang Ki Yoon, Eun Kyoung Lee, Hyeong Gon Yu
BMC Med Genomics. 2021; 14: 74. Published online 2021 Mar 10. doi: 10.1186/s12920-021-00874-6
PMCID:
PMC7945660
ArticlePDF–4.5M
11.
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Simone Schröder, Yun Li, Gökhan Yigit, Janine Altmüller, Ingrid Bader, Andrea Bevot, Saskia Biskup, Steffi Dreha-Kulaczewski, G. Christoph Korenke, Raimund Kottke, Johannes A. Mayr, Martin Preisel, Sandra P. Toelle, Sarah Wente-Schulz, Saskia B. Wortmann, Heidi Hahn, Eugen Boltshauser, Anja Uhmann, Bernd Wollnik, Knut Brockmann
Genet Med. 2021; 23(2): 341–351. Published online 2020 Oct 7. doi: 10.1038/s41436-020-00979-w
PMCID:
PMC7862056
ArticlePDF–2.1M
12.
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
Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo, Eirik Frengen
BMC Med Genet. 2020; 21: 96. Published online 2020 May 7. doi: 10.1186/s12881-020-01024-y
PMCID:
PMC7204034
ArticlePDF–1.0M
13.
Mice with a conditional deletion of Talpid3 (KIAA0586) – a model for Joubert syndrome
Andrew L Bashford, Vasanta Subramanian
J Pathol. 2019 Aug; 248(4): 396–408. Published online 2019 May 16. doi: 10.1002/path.5271
PMCID:
PMC6767539
ArticlePDF–24M
14.
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis
Jhih-Jie Tsai, Wen-Bin Hsu, Jia-Hua Liu, Ching-Wen Chang, Tang K. Tang
Sci Rep. 2019; 9: 6037. Published online 2019 Apr 15. doi: 10.1038/s41598-019-42577-0
Correction in:
Sci Rep. 2020; 10: 1265.
PMCID:
PMC6465297
ArticlePDF–9.3M
15.
A distal centriolar protein network controls organelle maturation and asymmetry
Lei Wang, Marion Failler, Wenxiang Fu, Brian D. Dynlacht
Nat Commun. 2018; 9: 3938. Published online 2018 Sep 26. doi: 10.1038/s41467-018-06286-y
PMCID:
PMC6158247
ArticlePDF–5.4M
16.
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis
Nimesh Joseph, Caezar Al-Jassar, Christopher M. Johnson, Antonina Andreeva, Deepak D. Barnabas, Stefan M.V. Freund, Fanni Gergely, Mark van Breugel
Cell Rep. 2018 May 29; 23(9): 2805–2818. Published online 2018 May 29. doi: 10.1016/j.celrep.2018.04.100
PMCID:
PMC5990496
Article
17.
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies
Shalabh Srivastava, Simon A Ramsbottom, Elisa Molinari, Sumaya Alkanderi, Andrew Filby, Kathryn White, Charline Henry, Sophie Saunier, Colin G Miles, John A Sayer
Hum Mol Genet. 2017 Dec 1; 26(23): 4657–4667. Published online 2017 Sep 11. doi: 10.1093/hmg/ddx347
PMCID:
PMC5886250
ArticlePDF–1008K
18.
The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance
Irene Ojeda Naharros, Flavia B. Cristian, Jingjing Zang, Matthias Gesemann, Philip W. Ingham, Stephan C. F. Neuhauss, Ruxandra Bachmann-Gagescu
Sci Rep. 2018; 8: 2211. Published online 2018 Feb 2. doi: 10.1038/s41598-018-20489-9
Correction in:
Sci Rep. 2018; 8: 12534.
PMCID:
PMC5797153
ArticlePDF–9.0M
19.
Prospective Evaluation of Kidney Disease in Joubert Syndrome
Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun
Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517
PMCID:
PMC5718273
Article
20.
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M Zein, Joseph Snow, Meghana Vemulapalli, James C Mullikin, Camilo Toro, Benjamin D Solomon, John E Niederhuber, NISC Comparative Sequencing Program, William A Gahl, Meral Gunay-Aygun
J Med Genet. Author manuscript; available in PMC 2017 Jul 19.
Published in final edited form as: J Med Genet. 2015 Dec; 52(12): 830–839. Published online 2015 Sep 18. doi: 10.1136/jmedgenet-2015-103316
PMCID:
PMC5517294
ArticlePDF–1.1M

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