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Select item 117116601.

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

Article PDF–1.2M

Select item 117056372.

Regulation of INPP5E in Ciliogenesis, Development, and Disease

Abdulaziz Hakeem, Shuying Yang

Int J Biol Sci. 2025; 21(2): 579–594. Published online 2025 Jan 1. doi: 10.7150/ijbs.99010

PMCID:: PMC11705637

Article PDF–2.4M

Select item 116745613.

Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report

Si-Xiu Li, Leiting Chen, Chen Deng, Dongmei Tang, Jing Zhang, Wen-Guang Hu, Yu Hu, Hua Lai, Xiao Yang

BMC Pregnancy Childbirth. 2024; 24: 865. Published online 2024 Dec 26. doi: 10.1186/s12884-024-07052-3

PMCID:: PMC11674561

Article PDF–1.1M

Select item 115839164.

Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system

Alexandra R. Noble, Markus Masek, Claudia Hofmann, Arianna Cuoco, Tamara D. S. Rusterholz, Hayriye Özkoc, Nadja R. Greter, Ian G. Phelps, Nikita Vladimirov, Sepp Kollmorgen, Esther Stoeckli, Ruxandra Bachmann-Gagescu

Biol Open. 2024 Nov 15; 13(11): bio060421. Published online 2024 Nov 12. doi: 10.1242/bio.060421

PMCID:: PMC11583916

Article PDF–11M

Select item 115283375.

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

Article PDF–825K

Select item 115120306.

New functions of B9D2 in tight junctions and epithelial polarity

Chloe Caenen-Braz, Latifa Bouzhir, Pascale Dupuis-Williams

Sci Rep. 2024; 14: 25293. Published online 2024 Oct 25. doi: 10.1038/s41598-024-75577-w

PMCID:: PMC11512030

Article PDF–3.4M

Select item 112772987.

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

Article PDF–628K

Select item 112135108.

Primary cilia formation requires the Leigh syndrome–associated mitochondrial protein NDUFAF2

Chien-Hui Lo, Zhiquan Liu, Siyu Chen, Frank Lin, Andrew R. Berneshawi, Charles Q. Yu, Euna B. Koo, Tia J. Kowal, Ke Ning, Yang Hu, Won-Jing Wang, Y. Joyce Liao, Yang Sun

J Clin Invest. 2024 Jul 1; 134(13): e175560. Published online 2024 Jul 1. doi: 10.1172/JCI175560

PMCID:: PMC11213510

Article PDF–15M

Select item 110556969.

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro

Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente

Cell Tissue Res. 2024; 396(2): 255–267. Published online 2024 Mar 19. doi: 10.1007/s00441-024-03876-9

PMCID:: PMC11055696

Article PDF–7.2M

Select item 1104973210.

Joubert syndrome presenting bilateral peroneal neuropathies: A case report

Hyeong-Min Kim, Hyun-Seok Jo, Jae-Young Han, In-Sung Choi, Min-Keun Song, Hyeng-Kyu Park

Medicine (Baltimore) 2024 Apr 26; 103(17): e37987. Published online 2024 Apr 26. doi: 10.1097/MD.0000000000037987

PMCID:: PMC11049732

Article PDF–542K

Select item 1104691511.

Syndromic ciliopathy: a taiwanese single-center study

Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai

BMC Med Genomics. 2024; 17: 106. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01880-0

PMCID:: PMC11046915

Article PDF–1.6M

Select item 1091310912.

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

Gjorgji Bozhinovski, Marija Terzikj, Katerina Kubelka-Sabit, Dijana Plaseska-Karanfilska

Balkan Med J. 2024 Mar; 41(2): 97–104. Published online 2024 Mar 1. doi: 10.4274/balkanmedj.galenos.2024.2023-10-72

PMCID:: PMC10913109

Article PDF–871K

Select item 1080500413.

Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene

Mazzotta C., Serpieri V., Orsi A., Cavan S., Rossi E., Stanzial F., Valente E.M.

Stem Cell Res. 2024 Feb; 74: 103267. doi: 10.1016/j.scr.2023.103267

PMCID:: PMC10805004

Article

Select item 1068146914.

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report

Paola Andrea Duque-Cordoba, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Harry Pachajoa

Medicine (Baltimore) 2023 Nov 24; 102(47): e35600. Published online 2023 Nov 24. doi: 10.1097/MD.0000000000035600

PMCID:: PMC10681469

Article PDF–567K

Select item 1066633315.

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

Article PDF–1.0M

Select item 1062131216.

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene

Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky

J Int Med Res. 2023 Oct; 51(10): 03000605231206294. Published online 2023 Nov 1. doi: 10.1177/03000605231206294

PMCID:: PMC10621312

Article PDF–695K

Select item 1051249717.

Novel variants identified in five Chinese families with Joubert Syndrome: a case report

Liwei Fang, Lulu Wang, Li Yang, Xiaoyan Xu, Shanai Pei, De Wu

BMC Med Genomics. 2023; 16: 221. Published online 2023 Sep 21. doi: 10.1186/s12920-023-01669-7

PMCID:: PMC10512497

Article PDF–1.8M

Select item 1044943118.

TOPORS as a novel causal gene for Joubert Syndrome

Alanna Strong, Huiqi Qu, Sinéad Cullina, Morgan McManus, Elaine H. Zackai, Joseph Glessner, Eimear E. Kenny, Hakon Hakonarson

Am J Med Genet A. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Am J Med Genet A. 2023 Aug; 191(8): 2156–2163. Published online 2023 May 25. doi: 10.1002/ajmg.a.63303

PMCID:: PMC10449431

Article PDF–588K

Select item 1044740019.

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

Article PDF–3.8M

Select item 1039683720.

产前诊断Joubert综合征一例并文献复习

Hong WEN, Lu CHEN, Kai YAN, Jing HE

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 Jun 25; 46(3): 274–278. Chinese. doi: 10.3785/j.issn.1008-9292.2017.06.08

PMCID:: PMC10396837

Article PDF–595K

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