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Select item 76799471.

Healthcare recommendations for Joubert syndrome

Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D'Arrigo, Ian A. Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay-Aygun, Enza Maria Valente, Dan Doherty

Am J Med Genet A. Author manuscript; available in PMC 2020 Nov 21.

Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 229–249. Published online 2019 Nov 11. doi: 10.1002/ajmg.a.61399

PMCID:: PMC7679947

Article PDF–815K

Select item 93146102.

Genotype–phenotype correlates in Joubert syndrome: A review

Simone Gana, Valentina Serpieri, Enza Maria Valente

Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 72–88. Published online 2022 Mar 3. doi: 10.1002/ajmg.c.31963

PMCID:: PMC9314610

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Select item 68644163.

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Melissa A. Parisi

Transl Sci Rare Dis. 2019; 4(1-2): 25–49. Published online 2019 Jul 4. doi: 10.3233/TRD-190041

PMCID:: PMC6864416

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Select item 47765904.

Joubert syndrome with autism in two siblings: A rare presentation

D. Vijaya Raghavan, V. Vimal Doshi, Shanthi Nambi

Indian J Psychiatry. 2016 Jan-Mar; 58(1): 90–92. doi: 10.4103/0019-5545.174395

PMCID:: PMC4776590

Article

Select item 83749695.

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Laura Powell, Eric Olinger, Sarah Wedderburn, Vijayalakshmi Salem Ramakumaran, Usha Kini, Jill Clayton-Smith, Simon C Ramsden, Sarah J Rice, Miguel Barroso-Gil, Ian Wilson, Lorraine Cowley, Sally Johnson, Elizabeth Harris, Tara Montgomery, Marta Bertoli, Genomics England Research Consortium, Eugen Boltshauser, John A Sayer

Brain Commun. 2021; 3(3): fcab163. Published online 2021 Jul 16. doi: 10.1093/braincomms/fcab163

PMCID:: PMC8374969

Article PDF–630K

Select item 37288836.

Joubert Syndrome: The Molar Tooth Sign of the Mid-Brain

C Nag, M Ghosh, K Das, TN Ghosh

Ann Med Health Sci Res. 2013 Apr-Jun; 3(2): 291–294. doi: 10.4103/2141-9248.113686

PMCID:: PMC3728883

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Select item 99322427.

Good outcome of tracheostomy in a COVID‐19 child with Joubert syndrome—Case report

Veronica Epure, Doru Oprea, Dan Cristian Gheorghe

Clin Case Rep. 2023 Feb; 11(2): e6973. Published online 2023 Feb 15. doi: 10.1002/ccr3.6973

PMCID:: PMC9932242

Article PDF–423K

Select item 100323208.

Joubert syndrome: Molecular basis and treatment

Lidvana Spahiu, Emir Behluli, Violeta Grajçevci-Uka, Thomas Liehr, Gazmend Temaj

J Mother Child. 2022 Mar; 26(1): 118–123. Published online 2023 Feb 22. doi: 10.34763/jmotherandchild.20222601.d-22-00034

PMCID:: PMC10032320

Article PDF–554K

Select item 63153429.

Review of Ocular Manifestations of Joubert Syndrome

Stephanie F. Wang, Tia J. Kowal, Ke Ning, Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun

Genes (Basel) 2018 Dec; 9(12): 605. Published online 2018 Dec 4. doi: 10.3390/genes9120605

PMCID:: PMC6315342

Article PDF–3.6M

Select item 893244310.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Brian P. Brooks, Wadih M. Zein, Amy H. Thompson, Maryam Mokhtarzadeh, Daniel A. Doherty, Melissa Parisi, Ian A. Glass, May C. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay-Aygun

Ophthalmology. Author manuscript; available in PMC 2022 Mar 18.

Published in final edited form as: Ophthalmology. 2018 Dec; 125(12): 1937–1952. Published online 2018 Jul 25. doi: 10.1016/j.ophtha.2018.05.026

PMCID:: PMC8932443

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Select item 600088211.

Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome

Jingjing Xiang, Lili Zhang, Wei Jiang, Qin Zhang, Ting Wang, Haibo Li, Hong Li

Biomed Res Int. 2018; 2018: 7202168. Published online 2018 May 31. doi: 10.1155/2018/7202168

PMCID:: PMC6000882

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Select item 1213419012.

Behavioral Correlates of Caregiver‐Reported Oral Health of Individuals With Joubert Syndrome: A Cross‐Sectional Observational Study

Sai Win Kyaw Htet Aung, Joshua Orack, Dan Doherty, Travis Nelson, Jennifer C. Dempsey, Sophie R. Li, Donald L. Chi

Spec Care Dentist. 2025 May-Jun; 45(3): e70050. Published online 2025 Jun 3. doi: 10.1111/scd.70050

PMCID:: PMC12134190

Article PDF–209K

Select item 911483313.

Adult Presentation of Joubert Syndrome Presenting With Dysphagia: A Case Report

Ali Al-Smair, Sara Younes, Osama Saadeh, Ahmad Saadeh, Ahmad Al-Ali

Cureus. 2022 Apr; 14(4): e24226. Published online 2022 Apr 18. doi: 10.7759/cureus.24226

PMCID:: PMC9114833

Article PDF–303K

Select item 945605814.

Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology

Kao-Jung Chang, Hsin-Yu Wu, Aliaksandr A. Yarmishyn, Cheng-Yi Li, Yu-Jer Hsiao, Yi-Chun Chi, Tzu-Chen Lo, He-Jhen Dai, Yi-Chiang Yang, Ding-Hao Liu, De-Kuang Hwang, Shih-Jen Chen, Chih-Chien Hsu, Chung-Lan Kao

Int J Mol Sci. 2022 Sep; 23(17): 9707. Published online 2022 Aug 26. doi: 10.3390/ijms23179707

PMCID:: PMC9456058

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Select item 279775815.

Clinical and molecular features of Joubert syndrome and related disorders

Melissa A. Parisi

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2009 Dec 24.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2009 Nov 15; 151C(4): 326–340. doi: 10.1002/ajmg.c.30229

PMCID:: PMC2797758

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Select item 1174808816.

Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations

Jia-Der Ju-Wang, Jennifer C. Dempsey, Cristian Zhang, Daniel Doherty, Manisha Witmans, Mary Anne Tablizo, Maida Lynn Chen

Ther Adv Respir Dis. 2025 Jan-Dec; 19: 17534666241308405. Published online 2025 Jan 16. doi: 10.1177/17534666241308405

PMCID:: PMC11748088

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Select item 579751417.

Interpreting the clinical significance of combined variants in multiple recessive disease genes: Systematic investigation of Joubert Syndrome yields little support for oligogenicity

Ian G. Phelps, Jennifer C. Dempsey, Megan E. Grout, Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ruxandra Bachmann-Gagescu

Genet Med. Author manuscript; available in PMC 2018 Feb 23.

Published in final edited form as: Genet Med. 2018 Feb; 20(2): 223–233. Published online 2017 Aug 3. doi: 10.1038/gim.2017.94

PMCID:: PMC5797514

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Select item 506008718.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen J. Duran, Jonathan Adkins, Sairam A. Kumar, Dana M. Knutzen, Nine V. Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria D. Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A. Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty

J Med Genet. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: J Med Genet. 2016 Jan; 53(1): 62–72. Published online 2015 Oct 21. doi: 10.1136/jmedgenet-2015-103250

PMCID:: PMC5060087

Article PDF–1.6M

Select item 753110719.

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma

BMC Med Genet. 2020; 21: 192. Published online 2020 Oct 1. doi: 10.1186/s12881-020-01130-x

PMCID:: PMC7531107

Article PDF–1.9M

Select item 911749720.

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay-Aygun

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2023 Mar 21.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 121–130. Published online 2022 Mar 21. doi: 10.1002/ajmg.c.31966

PMCID:: PMC9117497

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Figure 3

Infographic comparing Poretti–Boltshauser syndrome and Joubert syndrome. A visual comparison of Joubert syndrome and Poretti–Boltshauser syndrome during infancy, with axial brain imaging and during childhood highlights their shared and distinguishing features.

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Brain Commun. 2021;3(3):fcab163.
Figure 1

Genotype–phenotype correlates in Joubert syndrome (JS) and Joubert syndrome and related disorders. CORS, cerebellar-ocular-renal syndrome; SLS, Senior-Løken syndrome; LCA, Leber congenital amaurosis; NPHP, nephronophthisis. Genes with major effect are in bold, other genes contributing to each phenotype are listed as well.

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

Dev Med Child Neurol. ;53(9):793-798.
Figure 1

The child with Joubert syndrome.

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Genes (Basel). 2021 Jul;12(7):1078.
Figure 1

MRI of one patient with Joubert Syndrome

Joubert syndrome: Clinical and radiological characteristics of nine patients

Ann Indian Acad Neurol. 2013 Apr-Jun;16(2):239-244.