Marjan Chapi

COL18A1 is a candidate eye iridocorneal angle-closure gene in humans

Fatemeh Suri, Shahin Yazdani, Marjan Chapi et al. · Human Molecular Genetics · 2018 · 40 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +11

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha et al. · npj Genomic Medicine · 2021 · 30 citations · Full text

Incomplete penetrance of <i>CRX</i> gene for autosomal dominant form of cone-rod dystrophy

Marjan Chapi, Hamideh Sabbaghi, Fatemeh Suri et al. · Ophthalmic Genetics · 2019 · 18 citations

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

Hossein Darvish, Luís Azcona, Abbas Tafakhori et al. · Scientific Reports · 2020 · 16 citations · Full text

A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome

Javad Jamshidi, Shokoufeh Abdollahi, Hamid Ghaedi et al. · European Journal of Medical Genetics · 2017 · 12 citations

Novel Mutation, Ocular Disease, Ophthalmology +8