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

Progress in Methods for Copy Number Variation Profiling

(2022) Veronika Gordeeva et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A de novo paradigm for male infertility

(2022) M. S. Oud et al.   Nature Communications

Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge

(2022) Abdelkader Heddar et al.   FERTILITY AND STERILITY

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency

(2022) Elena J. Tucker et al.   HUMAN MUTATION

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

(2021) Hila Fridman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In Vitro Activation Early Follicles: From the Basic Science to the Clinical Perspectives

(2021) Kim Cat Tuyen Vo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Autophagy in major human diseases

(2021) Daniel J Klionsky et al.   EMBO JOURNAL

The Role of Mutant p63 in Female Fertility

(2021) Yi Luan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Genetic insights into biological mechanisms governing human ovarian ageing

(2021) Katherine S. Ruth et al.   NATURE

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

(2021) Asma Sassi et al.   Molecular Genetics & Genomic Medicine

The Role of Inactivated NF-κB in the Occurrence of Premature Ovarian Failure

(2021) Xin Luo et al.   AMERICAN JOURNAL OF PATHOLOGY

A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability

(2021) Abdelkader Heddar et al.   CLINICAL GENETICS

Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency

(2021) Bushra Gorsi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation

(2020) Abdelkader Heddar et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

(2020) Claudia Rodríguez-López et al.   JOURNAL OF MEDICAL GENETICS

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

(2020) Sandrine Caburet et al.   JOURNAL OF MEDICAL GENETICS

Two auxiliary factors promote Dmc1-driven DNA strand exchange via stepwise mechanisms

(2020) Hideo Tsubouchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A genomics approach to male infertility

(2020) Naif Alhathal et al.   GENETICS IN MEDICINE

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

(2020) Csilla Krausz et al.   GENETICS IN MEDICINE

SPATA33 is an autophagy mediator for cargo selectivity in germline mitophagy

(2020) Ying Zhang et al.   CELL DEATH AND DIFFERENTIATION

The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis

(2019) S. Golezar et al.   CLIMACTERIC

Sequencing of a ‘mouse azoospermia’ gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

(2019) A Riera-Escamilla et al.   HUMAN REPRODUCTION

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

(2019) Angad Jolly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency

(2019) Abdelkader Heddar et al.   MOLECULAR GENETICS AND GENOMICS

Infertility and Mortality

(2019) Natalie C. Stentz et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Control of homologous recombination by the HROB–MCM8–MCM9 pathway

(2019) Nicole Hustedt et al.   GENES & DEVELOPMENT

ELAVL2‐directed RNA regulatory network drives the formation of quiescent primordial follicles

(2019) Yuzuru Kato et al.   EMBO REPORTS

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

(2018) Csilla Krausz et al.   GENETICS IN MEDICINE

Chromosomal instability in women with primary ovarian insufficiency

(2018) Sunita Katari et al.   HUMAN REPRODUCTION

The NLR family pyrin domain–containing 11 protein contributes to the regulation of inflammatory signaling

(2018) Kornelia Ellwanger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

(2018) Ilpo Huhtaniemi et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

(2018) Laura Kasak et al.   AMERICAN JOURNAL OF HUMAN GENETICS

OUP accepted manuscript

(2018)   HUMAN REPRODUCTION

Genetics and genomics of pulmonary arterial hypertension

(2018) Nicholas W. Morrell et al.   EUROPEAN RESPIRATORY JOURNAL

Transcriptome Landscape of Human Folliculogenesis Reveals Oocyte and Granulosa Cell Interactions

(2018) Yaoyao Zhang et al.   MOLECULAR CELL

The differentiated and conserved roles of Swi5-Sfr1 in homologous recombination

(2017) Bilge Argunhan et al.   FEBS LETTERS

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

(2017) Britt van Erven et al.   FERTILITY AND STERILITY

Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation

(2017) Abdulmoein Eid Al-Agha et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A potential functional association between mutant BMPR2 and primary ovarian insufficiency

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

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

(2017) Baptiste Fouquet et al.   eLife

Long-term outcome of ovarian function in women with intermittent premature ovarian insufficiency

(2016) Anne Bachelot et al.   CLINICAL ENDOCRINOLOGY

A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis

(2016) Pola Smirin-Yosef et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Identifying a Novel Role for X-prolyl Aminopeptidase (Xpnpep) 2 in CrVI-Induced Adverse Effects on Germ Cell Nest Breakdown and Follicle Development in Rats1

(2015) Sakhila K. Banu et al.   BIOLOGY OF REPRODUCTION

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

Genetic counselling in a national referral centre for pulmonary hypertension

(2015) Barbara Girerd et al.   EUROPEAN RESPIRATORY JOURNAL

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

The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders

(2014) Luca Persani et al.   HUMAN REPRODUCTION UPDATE

MAPK and NF-κB Pathways Are Involved in Bisphenol A-Induced TNF-α and IL-6 Production in BV2 Microglial Cells

(2014) Jingying Zhu et al.   INFLAMMATION

Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

(2014) Jian Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

(2012) Lisette Stolk et al.   NATURE GENETICS

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription

(2011) David Zangen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Penetrance of pulmonary arterial hypertension is modulated by the expression of normalBMPR2allele

(2009) Rizwan Hamid et al.   HUMAN MUTATION

Evaluation of different markers of the ovarian reserve in patients presenting with premature ovarian failure

(2007) N. Massin et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY