Associated Papers
[Clinical and genetic analyses of Joubert syndrome in children].
Zhang GY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Clinical and genetic characteristics of 36 children with Joubert syndrome.
Dong Y et al.
Frontiers in Pediatrics, 2023
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I et al.
Human Genetics, 2021
Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome.
Altieri F et al.
Stem Cell Research, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
Nguyen TT et al.
Journal of Medical Genetics, 2017
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
Chafai-Elalaoui S et al.
Journal of Medical Case Reports, 2015
Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.
Martin J et al.
Fertility and Sterility, 2015
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
Lancaster MA et al.
Nature Medicine, 2011
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente EM et al.
Annals of Neurology, 2006