Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table4.xlsx › sheet1
Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62.
Greer SU et al.
Scientific Reports, 2022
35725745 (PubMed )
Supplement: 41598_2022_13569_MOESM1_ESM.xlsx › Table_S17
Autophagy deficiency in neurodevelopmental disorders.
Deng Z et al.
Cell & Bioscience, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
Collier JJ et al.
The New England Journal of Medicine, 2021
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.
Wang L et al.
Molecular Autism, 2020
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