Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

(2022) Abdelkader Heddar et al.   EBioMedicine

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset

(2021) Raffaella Rossetti et al.   Frontiers in Endocrinology

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

(2020) Monica M. França et al.   PLoS One

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

(2019) Sylvie Jaillard et al.   MATURITAS

Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

(2018) Elena J. Tucker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency

(2018) Xiao-Wen Yang et al.   Molecular Genetics & Genomic Medicine

Molecular Genetics of Premature Ovarian Insufficiency

(2018) Xue Jiao et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

(2018) Yanning Song et al.   Frontiers in Pharmacology

Mutations in MSH5 in primary ovarian insufficiency

(2017) Ting Guo et al.   HUMAN MOLECULAR GENETICS

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

(2017) Liliana Catherine Patiño et al.   HUMAN REPRODUCTION

The prevalence of DICER1 pathogenic variation in population databases

(2017) Jung Kim et al.   INTERNATIONAL JOURNAL OF CANCER

A potential functional association between mutant BMPR2 and primary ovarian insufficiency

(2017) Liliana Catherine Patiño et al.   Systems Biology in Reproductive Medicine

Age at menarche and age at natural menopause in East Asian women: a genome-wide association study

(2016) Jiajun Shi et al.   AGE

The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2

(2016) M. Elzaiat et al.   CLINICAL GENETICS

ESHRE Guideline: management of women with premature ovarian insufficiency

(2016)   HUMAN REPRODUCTION

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

(2016) Justine Bouilly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Menopause: Genome stability as new paradigm

(2016) Joop S.E. Laven et al.   MATURITAS

Characteristics of Pulmonary Arterial Hypertension in Affected Carriers of a Mutation Located in the Cytoplasmic Tail of Bone Morphogenetic Protein Receptor Type 2

(2015) Barbara Girerd et al.   CHEST

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

(2015) Dora Janeth Fonseca et al.   FERTILITY AND STERILITY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups

(2013) Xue Jiao et al.   PLoS One

MutS Homologue hMSH5: Recombinational DSB Repair and Non-Synonymous Polymorphic Variants

(2013) Xiling Wu et al.   PLoS One

Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in theNR5A1/SF-1Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

(2012) Marta Ciaccio et al.   Hormone Research in Paediatrics

FOXL2 Impairment in Human Disease

(2012) Hannah Verdin et al.   Hormone Research in Paediatrics

Mutant Forkhead L2 (FOXL2) Proteins Associated with Premature Ovarian Failure (POF) Dimerize with Wild-Type FOXL2, Leading to Altered Regulation of Genes Associated with Granulosa Cell Differentiation

(2011) Fang-Ting Kuo et al.   ENDOCRINOLOGY

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort

(2011) Justine Bouilly et al.   HUMAN MUTATION

Primary ovarian insufficiency

(2010) Michel De Vos et al.   LANCET

The FOXL2 C134W mutation is characteristic of adult granulosa cell tumors of the ovary

(2010) Stacey Jamieson et al.   MODERN PATHOLOGY

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE