Research & Literature

Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.

Poretti A, Boltshauser E, Huisman TAGM

Cerebellum (London, England) 2016; (15(1)):5-9 doi:10.1007/s12311-015-0699-z.

Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood.

Usta M, Urganci N, Özçelik G, et al.

European review for medical and pharmacological sciences 2015; (19(12)):2297-300.

Dealing with congenital hepatic fibrosis? Remember COACH syndrome.

Acharyya BC, Goenka MK, Chatterjee S, Goenka U

Clinical journal of gastroenterology 2014; (7(1)):48-51 doi:10.1007/s12328-013-0418-6.

Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.

Salva I, Albuquerque C, Moreira A, Dâmaso C

BMJ case reports 2016; (2016()).

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Bader I, Decker E, Mayr JA, et al.

European journal of medical genetics 2016; (59(8)):386-91.

Cognitive, adaptive, and behavioral features in Joubert syndrome.

Bulgheroni S, D'Arrigo S, Signorini S, et al.

American journal of medical genetics. Part A 2016; (170(12)):3115-3124 doi:10.1002/ajmg.a.37938.

Joubert syndrome in a neonate: case report with literature review.

Bin Dahman HA, Bin Mubaireek AH, Alhaddad ZH

Sudanese journal of paediatrics 2016; (16(1)):53-7.

Diagnosis of Joubert syndrome via ultrasonography.

Buke B, Canverenler E, İpek G, et al.

Journal of medical ultrasonics (2001) 2017; (44(2)):197-202 doi:10.1007/s10396-016-0751-8.

A neonate with Joubert syndrome presenting with symptoms of Horner syndrome.

Lee N, Nam SO, Kim YM, Lee YJ

Korean journal of pediatrics 2016; (59(Suppl 1)):S32-S36 doi:10.3345/kjp.2016.59.11.S32.

The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival.

Lessieur EM, Fogerty J, Gaivin RJ, et al.

Investigative ophthalmology & visual science 2017; (58(1)):448-460 doi:10.1167/iovs.16-20326.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Vilboux T, Doherty DA, Glass IA, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(8)):875-882 doi:10.1038/gim.2016.204.

Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome.

Goswami M, Rajwar AS, Verma M

International journal of clinical pediatric dentistry 2016; (9(4)):379-383 doi:10.5005/jp-journals-10005-1394.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

Stephen J, Vilboux T, Mian L, et al.

Human genetics 2017; (136(4)):399-408 doi:10.1007/s00439-017-1765-z.

Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report.

Miyazawa K, Hara Y, Shimizu K, et al.

International journal of surgery case reports 2017; (34()):134-138 doi:10.1016/j.ijscr.2017.03.036.

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.

Lee SH, Nam TS, Li W, et al.

Scientific reports 2017; (7(1)):10222 doi:10.1038/s41598-017-10652-z.

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Srivastava S, Ramsbottom SA, Molinari E, et al.

Human molecular genetics 2017; (26(23)):4657-4667 doi:10.1093/hmg/ddx347.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Fleming LR, Doherty DA, Parisi MA, et al.

Clinical journal of the American Society of Nephrology : CJASN 2017; (12(12)):1962-1973 doi:10.2215/CJN.05660517.

Prenatal diagnosis of Joubert syndrome: A case report and literature review.

Zhu L, Xie L

Medicine 2017; (96(51)):e8626 doi:10.1097/MD.0000000000008626.

Joubert Syndrome with Orofacial Digital Features.

Bhardwaj P, Sharma M, Ahluwalia K

Journal of neurosciences in rural practice 2018; (9(1)):152-154 doi:10.4103/jnrp.jnrp_338_17.

Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.

Toma C, Ruberto G, Marzi F, et al.

Documenta ophthalmologica. Advances in ophthalmology 2018; (137(1)):25-36 doi:10.1007/s10633-018-9646-x.

A patient with Joubert syndrome who developed sleep-related breathing disorder at 15 years of age.

Nozaki F, Kumada T, Shibata M, et al.

No to hattatsu = Brain and development 2016; (48(6)):430-3.

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

Brooks BP, Zein WM, Thompson AH, et al.

Ophthalmology 2018; (125(12)):1937-1952 doi:10.1016/j.ophtha.2018.05.026.

AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM.

Erol S, Demirel N, Bas AY, et al.

Genetic counseling (Geneva, Switzerland) 2016; (27(3)):367-371.

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Nuovo S, Fuiano L, Micalizzi A, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2020; (35(7)):1195-1202 doi:10.1093/ndt/gfy333.

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Ramsbottom SA, Molinari E, Srivastava S, et al.

Proceedings of the National Academy of Sciences of the United States of America 2018; (115(49)):12489-12494 doi:10.1073/pnas.1809432115.

Review of Ocular Manifestations of Joubert Syndrome.

Wang SF, Kowal TJ, Ning K, et al.

Genes 2018; (9(12)) doi:10.3390/genes9120605.

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.

Linpeng S, Liu J, Pan J, et al.

BioMed research international 2018; (2018()):4032543 doi:10.1155/2018/4032543.

Anesthetic management for a pediatric patient with joubert syndrome: A case report.

Lee YS, Kim WY, Kim KG, et al.

Korean journal of anesthesiology 2009; (57(1)):96-99 doi:10.4097/kjae.2009.57.1.96.

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

Parisi MA

Translational science of rare diseases 2019; (4(1-2)):25-49 doi:10.3233/TRD-190041.

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.

Bui TPH, Nguyen NT, Ngo VD, et al.

BMC medical genetics 2020; (21(1)):18 doi:10.1186/s12881-020-0962-0.

Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

George A, Cogliati T, Brooks BP

Experimental eye research 2020; (193()):107940 doi:10.1016/j.exer.2020.107940.

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Radha Rama Devi A, Naushad SM, Lingappa L

Pediatric neurology 2020; (106()):43-49 doi:10.1016/j.pediatrneurol.2020.01.012.

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.

Niceta M, Dentici ML, Ciolfi A, et al.

BMC pediatrics 2020; (20(1)):120 doi:10.1186/s12887-020-2019-0.

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.

Sumathipala D, Strømme P, Gilissen C, et al.

BMC medical genetics 2020; (21(1)):96 doi:10.1186/s12881-020-01024-y.

Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

Katiyar D, Anderson N, Bommireddipalli S, et al.

European journal of medical genetics 2020; (63(9)):104000 doi:10.1016/j.ejmg.2020.104000.

A role for primary cilia in coral calcification?

Tambutté E, Ganot P, Venn AA, Tambutté S

Cell and tissue research 2021; (383(3)):1093-1102 doi:10.1007/s00441-020-03343-1.

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.

Leroy BP, Birch DG, Duncan JL, et al.

Retina (Philadelphia, Pa.) 2021; (41(5)):898-907 doi:10.1097/IAE.0000000000003133.

A case report of Joubert syndrome with renal involvement and seizures in a neonate.

Ahmetgjekaj I, Rahman M, Hyseni F, et al.

Radiology case reports 2021; (16(5)):1075-1079 doi:10.1016/j.radcr.2021.02.031.

Joubert syndrome diagnosed renally late.

Collard E, Byrne C, Georgiou M, et al.

Clinical kidney journal 2021; (14(3)):1017-1019 doi:10.1093/ckj/sfaa007.

The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.

Muthaffar OY

Balkan journal of medical genetics : BJMG 2020; (23(2)):17-24 doi:10.2478/bjmg-2020-0028.

Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.

Romaniello R, Gagliardi C, Desalvo P, et al.

Disability and rehabilitation 2022; (44(18)):4966-4973 doi:10.1080/09638288.2021.1922516.

Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting.

Suciu SK, Long AB, Caspary T

Genetics 2021; (218(4)) doi:10.1093/genetics/iyab084.

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants.

Brunetti-Pierri R, Karali M, Testa F, et al.

Diagnostics (Basel, Switzerland) 2021; (11(7)) doi:10.3390/diagnostics11071218.

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

Powell L, Olinger E, Wedderburn S, et al.

Brain communications 2021; (3(3)):fcab163 doi:10.1093/braincomms/fcab163.

Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.

Zhongling K, Guoming L, Yanhui C, Xiaoru C

Frontiers in genetics 2021; (12()):738157 doi:10.3389/fgene.2021.738157.

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

D'Abrusco F, Arrigoni F, Serpieri V, et al.

Cerebellum (London, England) 2022; (21(6)):1144-1150 doi:10.1007/s12311-021-01350-8.

Joubert Syndrome Presenting With Oculomotor Apraxia and Motor Developmental Delay: A Case Report From a Neuro-Ophthalmology Clinic in Saudi Arabia.

Mandura RA, Arishi NA

Cureus 2022; (14(1)):e21638 doi:10.7759/cureus.21638.

Genotype-phenotype correlates in Joubert syndrome: A review.

Gana S, Serpieri V, Valente EM

American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(1)):72-88 doi:10.1002/ajmg.c.31963.

Elderly onset congenital hepatic fibrosis with portal hypertension diagnosed after recurrent cholangitis: a case report.

Takahashi K, Ofuji K, Nosaka T, et al.

Clinical journal of gastroenterology 2022; (15(3)):611-616 doi:10.1007/s12328-022-01620-w.

Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant.

Uda D, Kondo H, Tanda K, et al.

Neuropediatrics 2023; (54(3)):217-221 doi:10.1055/a-1865-6890.

The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.

Van De Weghe JC, Gomez A, Doherty D

Annual review of genomics and human genetics 2022; (23()):301-329 doi:10.1146/annurev-genom-121321-093528.

Joubert syndrome a rare entity and role of radiology: A case report.

Ullah I, Khan KS, Afridi RU, et al.

Annals of medicine and surgery (2012) 2022; (79()):104113 doi:10.1016/j.amsu.2022.104113.

Joubert-Plus syndrome with an atretic cephalocele: a case report.

Al-Smair A, Younes S, Saadeh A, et al.

Radiology case reports 2022; (17(10)):3630-3634 doi:10.1016/j.radcr.2022.07.038.

Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts - A Case Report.

Chettiankandi S, Khan GA, Khan HA

Case reports in ophthalmology 2022; (13(2)):604-610 doi:10.1159/000525798.

Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant.

Matoba K, Chihara N, Satake W, et al.

Neurology. Genetics 2022; (8(5)):e200031 doi:10.1212/NXG.0000000000200031.

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.

Zhu T, Shen Y, Sun Z, et al.

American journal of ophthalmology 2023; (248()):96-106 doi:10.1016/j.ajo.2022.11.023.

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

Aksu Uzunhan T, Ertürk B, Aydın K, et al.

Clinical neurology and neurosurgery 2023; (224()):107560 doi:10.1016/j.clineuro.2022.107560.

Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.

Sambharia M, Freese ME, Donato F, et al.

Nephron 2024; (148(4)):264-272 doi:10.1159/000527991.

Joubert syndrome: Molecular basis and treatment.

Spahiu L, Behluli E, Grajçevci-Uka V, et al.

Journal of mother and child 2022; (26(1)):118-123 doi:10.34763/jmotherandchild.20222601.d-22-00034.

Good outcome of tracheostomy in a COVID-19 child with Joubert syndrome-Case report.

Epure V, Oprea D, Gheorghe DC

Clinical case reports 2023; (11(2)):e6973 doi:10.1002/ccr3.6973.

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

Schröder S, Yigit G, Li Y, et al.

Orphanet journal of rare diseases 2023; (18(1)):101 doi:10.1186/s13023-023-02706-5.

Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders.

Mano H, Kitamura K, Tachibana M, et al.

Cureus 2023; (15(5)):e38658 doi:10.7759/cureus.38658.

Joubert syndrome: a case report of neonatal presentation and early diagnosis.

González-Gordillo CI, Orozco-Soto LE, Osegueda-Mayen JR, et al.

Boletin medico del Hospital Infantil de Mexico 2023; (80(Supl 1)):23-27 doi:10.24875/BMHIM.22000075.

Visual function in children with Joubert syndrome.

Morelli F, Toni F, Saligari E, et al.

Developmental medicine and child neurology 2024; (66(3)):379-388 doi:10.1111/dmcn.15732.

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.

Owens JW, Hopkin RJ, Martin LJ, et al.

Annals of human genetics 2024; (88(1)):86-100 doi:10.1111/ahg.12537.

Pontine tegmental cap dysplasia: the role of diffusion tensor imaging.

Raghuveer K, Dikkatwar V, Joshi MV, Shetty DS

BMJ case reports 2023; (16(11)) doi:10.1136/bcr-2022-253556.

Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.

Ikeda K, Tamagake A, Kubota T, et al.

Cerebellum (London, England) 2024; (23(5)):2205-2207 doi:10.1007/s12311-024-01673-2.

Radiological features of Joubert syndrome and clinical case presentation.

Montero Torres JA, Flores Escobar B, Guzman Martinez J, et al.

Radiology case reports 2024; (19(10)):4167-4172 doi:10.1016/j.radcr.2024.06.065.

Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case.

Castellano C, Gomez Rosado JO, Witt A, et al.

Cureus 2024; (16(8)):e66648 doi:10.7759/cureus.66648.

Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review.

Alhashimi I, Zoghoul S, Khalil SK, et al.

Cureus 2024; (16(9)):e69872 doi:10.7759/cureus.69872.

Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.

Gana S, D'Abrusco F, Nicotra R, et al.

Journal of medical genetics 2024; (62(1)):3-5 doi:10.1136/jmg-2024-110308.

Compound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.

Solijon KLK, Engkong RO, Cavan BCV, et al.

Journal of neural transmission (Vienna, Austria : 1996) 2025; (132(5)):655-661 doi:10.1007/s00702-025-02885-4.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

Yu M, Vieta-Ferrer ER, Bakdalieh A, Tsai T

International journal of molecular sciences 2025; (26(3)) doi:10.3390/ijms26030957.

Unexplained portal hypertension and confusion in an elderly patient: a late presentation of congenital hepatic fibrosis.

Rombouts B, Van der Wijst E, Schoeters P, et al.

Acta gastro-enterologica Belgica 2025; (88(1)):75-78 doi:10.51821/88.1.13474.

Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.

Salari M, Rezaei K, Haghighatzadeh M, et al.

Cerebellum (London, England) 2025; (24(4)):116 doi:10.1007/s12311-025-01869-0.

Genetics Review: Joubert Syndrome.

Tran AM, Jnah AJ, De Castro Pretelt MJ

Neonatal network : NN 2025; (44(3)):159-166 doi:10.1891/NN-2024-0052.

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report.

Mehari TH, Tessema BM, Gebrekidan RG

Radiology case reports 2025; (20(9)):4701-4705 doi:10.1016/j.radcr.2025.05.103.

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.

Furuta Y, Nelson ET, Tinker RJ, Grochowsky AR

Reports (MDPI) 2025; (8(2)) doi:10.3390/reports8020057.

A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient.

Shankar M, Anusha V, Shetty A, et al.

Indian journal of nephrology 2025; (35(4)):560-562 doi:10.25259/IJN_86_2024.

Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study.

Ferrão T, Alvelos R, Mauricio K, et al.

Cureus 2025; (17(9)):e92677 doi:10.7759/cureus.92677.

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant.

Casteleyn T, Vogt M, Weichert A, et al.

Prenatal diagnosis 2025; (45(13)):1783-1786 doi:10.1002/pd.70008.

Primary cilia in neural development and disease.

Zhang R, Pan S, Zhao J, et al.

Neurobiology of disease 2025; (217()):107184 doi:10.1016/j.nbd.2025.107184.

Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome.

Managi A, Zuiki M, Mitsuno R, et al.

Cureus 2025; (17(12)):e99213 doi:10.7759/cureus.99213.