Associated Papers
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Owens JW et al.
Annals of Human Genetics, 2024
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG et al.
Ophthalmology Science, 2023
37250922 (PubMed )
Supplement: mmc7.pdf
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V et al.
Journal of Medical Genetics, 2023
PENTOSAN POLYSULFATE SODIUM (ELMIRON) MACULOPATHY: A Genetic Perspective.
Kalaw FGP et al.
Retina (philadelphia, Pa.), 2023
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R et al.
American Journal of Medical Genetics. Part A, 2020
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
Obeidova L et al.
Plos One, 2020
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B et al.
Molecular Genetics & Genomic Medicine, 2016
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.
Schrodi SJ et al.
Human Genetics, 2015
An estimate of the average number of recessive lethal mutations carried by humans.
Gao Z et al.
Genetics, 2015
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M et al.
The Lancet. Neurology, 2013
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Chong JX et al.
American Journal of Human Genetics, 2012
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Huang L et al.
American Journal of Human Genetics, 2011
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