Associated Papers
How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.
Stallmeyer B et al.
Andrology, 2025
39120565 (PubMed )
Supplement: ANDR-13-1011-s001.xlsx › Table_S1
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY
Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.
Li K et al.
Human Reproduction Update, 2025
Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation.
Wen X et al.
Frontiers in Genetics, 2025
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: Table5.xlsx › nsPOI
Whole-exome sequencing identifies rare recessive variants in azoospermia patients from consanguineous Pakistani families.
Uddin I et al.
Molecular Genetics and Genomics : Mgg, 2024
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.
Shekari S et al.
Nature Medicine, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.
Liu M et al.
Human Molecular Genetics, 2022
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY et al.
Human Reproduction Update, 2021
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.
Nakamura S et al.
Andrology, 2017
Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.
Zhao S et al.
Fertility and Sterility, 2015
Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population.
Song B et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2015
Mutations in SOHLH1 gene associate with nonobstructive azoospermia.
Choi Y et al.
Human Mutation, 2010
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