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
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
Molecular functions of MCM8 and MCM9 and their associated pathologies.
Helderman NC et al.
Iscience, 2023
Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.
Golubicki M et al.
Jci Insight, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
Terradas M et al.
Human Mutation, 2019
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ et al.
Human Mutation, 2019
New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.
Patiño LC et al.
Human Reproduction (oxford, England), 2017
MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.
Desai S et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients.
Liu Q et al.
Cancer Genetics, 2016
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