Associated Papers
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Rare compound heterozygous missense SPATA7 variations and risk of schizophrenia; whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a case-control study.
Igeta H et al.
Neuropsychiatric Disease and Treatment, 2019
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
Mackay DS et al.
Investigative Ophthalmology & Visual Science, 2011
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Perrault I et al.
Human Mutation, 2010
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