1. Graph neural network and multi-data heterogeneous networks for microbe-disease prediction
   Houwu Gong et al, 2022, Frontiers in Microbiology CrossRef
2. Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome
   Junyu He et al, 2022, Frontiers in Genetics CrossRef
3. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism
   Alessandra Scaravilli et al, 2023, The Cerebellum CrossRef
4. Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
   Mustafa Doğan et al, 2021, Ophthalmic Genetics CrossRef
5. Salvia officinalis Extract and 17β-Estradiol Suppresses Ovariectomy Induced Osteoporosis in Female Rats
   Bosy Azmy Abd E et al, 2021, Pakistan Journal of Biological Sciences CrossRef
6. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia
   Erin O’Neil et al, 2019, Ophthalmic Genetics CrossRef
7. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature
   Lorenzo Nanetti et al, 2022, Frontiers in Neurology CrossRef