1. Liu, James, Hufnagel, Robert B. 2023. PNPLA6 disorders: what's in a name? In Ophthalmic genetics, 44, 530-538. doi:10.1080/13816810.2023.2254830. https://pubmed.ncbi.nlm.nih.gov/37732399/
2. Liu, James, He, Yi, Lwin, Cara, Synofzik, Matthis, Hufnagel, Robert B. . Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. In Brain : a journal of neurology, 147, 2085-2097. doi:10.1093/brain/awae055. https://pubmed.ncbi.nlm.nih.gov/38735647/
3. He, Junyu, Liu, Xin, Liu, Liyi, Shan, Shuanghong, Liao, Zhihong. 2022. Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome. In Frontiers in genetics, 13, 810537. doi:10.3389/fgene.2022.810537. https://pubmed.ncbi.nlm.nih.gov/35198007/
4. Nanetti, Lorenzo, Di Bella, Daniela, Magri, Stefania, Mariotti, Caterina, Taroni, Franco. 2022. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature. In Frontiers in neurology, 12, 793547. doi:10.3389/fneur.2021.793547. https://pubmed.ncbi.nlm.nih.gov/35069422/
5. Koh, Kishin, Kobayashi, Fumikazu, Miwa, Michiaki, Tsuji, Shoji, Takiyama, Yoshihisa. 2015. Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome. In Journal of human genetics, 60, 217-20. doi:10.1038/jhg.2015.3. https://pubmed.ncbi.nlm.nih.gov/25631098/
6. Pamies, D, Bal-Price, A, Fabbri, M, Vilanova, E, Sogorb, M A. 2014. Silencing of PNPLA6, the neuropathy target esterase (NTE) codifying gene, alters neurodifferentiation of human embryonal carcinoma stem cells (NT2). In Neuroscience, 281, 54-67. doi:10.1016/j.neuroscience.2014.08.031. https://pubmed.ncbi.nlm.nih.gov/25255935/
7. Sogorb, Miguel A, Pamies, David, Estevan, Carmen, Estévez, Jorge, Vilanova, Eugenio. 2016. Roles of NTE protein and encoding gene in development and neurodevelopmental toxicity. In Chemico-biological interactions, 259, 352-357. doi:10.1016/j.cbi.2016.07.030. https://pubmed.ncbi.nlm.nih.gov/27475862/
8. Shi, J, Zhang, X, Xu, K, Zhang, X H, Li, Y. . [A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation]. In [Zhonghua yan ke za zhi] Chinese journal of ophthalmology, 59, 484-487. doi:10.3760/cma.j.cn112142-20220627-00316. https://pubmed.ncbi.nlm.nih.gov/37264580/
9. Liu, James, He, Yi, Lwin, Cara, Synofzik, Matthis, Hufnagel, Robert B. 2023. Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.06.09.544373. https://pubmed.ncbi.nlm.nih.gov/37333224/
10. Doğan, Mustafa, Eröz, Recep, Öztürk, Emrah. 2021. Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene. In Ophthalmic genetics, 42, 276-282. doi:10.1080/13816810.2021.1894461. https://pubmed.ncbi.nlm.nih.gov/33650466/