Associated Papers
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
KEAP1 retention in phase-separated p62 bodies drives liver damage under autophagy-deficient conditions.
Takada S et al.
Embo Reports, 2025
40437287 (PubMed )
Supplement: 44319_2025_483_MOESM1_ESM.pdf
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
39492681 (PubMed )
Supplement: ART-77-582-s014.pdf
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
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Lafraoui I et al.
International Journal of Molecular Sciences, 2024
The contribution of genetics and epigenetics to MAFLD susceptibility.
Moretti V et al.
Hepatology International, 2024
Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.
Bale G et al.
Journal of Gastroenterology and Hepatology, 2024
Mutation of autophagy-related gene ATG7 increases the risk of severe disease in patients with non-alcoholic fatty liver disease.
Waye MMY
Liver Research (beijing, China), 2023
Gene Variants Implicated in Steatotic Liver Disease: Opportunities for Diagnostics and Therapeutics.
Huang G et al.
Biomedicines, 2023
Rare ATG7 genetic variants predispose patients to severe fatty liver disease.
Baselli GA et al.
Journal of Hepatology, 2022
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
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
35460704 (PubMed )
Supplement: mmc1.pdf
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Cerminara M et al.
Frontiers in Genetics, 2021
Select a paper to view details