Associated Papers
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.
Downie ML et al.
Kidney International Reports, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 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
Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants.
Chen C et al.
Bmc Medical Genomics, 2021
Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing.
Repo P et al.
Clinical Genetics, 2021
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.
AlBanji MH et al.
Molecular Genetics and Metabolism Reports, 2020
Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration.
Muñoz-Estrada J et al.
Journal of Cell Science, 2019
Mutant Ahi1 Affects Retinal Axon Projection in Zebrafish via Toxic Gain of Function.
Zhu L et al.
Frontiers in Cellular Neuroscience, 2019
Nucleotide variants in prion-related protein (testis-specific) gene (PRNT) and effects on Chinese and Mongolian sheep phenotypes.
Li J et al.
Prion, 2018
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
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
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 gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
Tuz K et al.
The Journal of Biological Chemistry, 2013
Molecular characterization of Joubert syndrome in Saudi Arabia.
Alazami AM et al.
Human Mutation, 2012
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
Lancaster MA et al.
Nature Medicine, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Joubert syndrome (and related disorders) (OMIM 213300).
Parisi MA et al.
European Journal of Human Genetics : Ejhg, 2007
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente EM et al.
Annals of Neurology, 2006
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
Utsch B et al.
Pediatric Nephrology (berlin, Germany), 2006
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
Dixon-Salazar T et al.
American Journal of Human Genetics, 2004
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Ferland RJ et al.
Nature Genetics, 2004