Research graph
References from Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility. Local targets link to admitted publications; unresolved targets remain external evidence.
Unresolved reference
External reference
A Systematic Review and Meta-Analysis on the Impact of Infertility on Men’s General Health
10.1016/j.euf.2023.07.010 · 2024 · External reference
How Exome Sequencing Improves the Diagnostics and Management of Men with Non-Syndromic Infertility
10.1111/andr.13728 · 2025 · External reference
Utility of Exome Sequencing in Primary Spermatogenic Disorders: From Research to Diagnostics
10.1111/andr.13753 · 2025 · External reference
Depression, Anxiety, Quality of Life, and Infertility: A Global Lens on the Last Decade of Research
10.1016/j.fertnstert.2024.01.013 · 2024 · External reference
10.1371/journal.pone.0288336
10.1371/journal.pone.0288336 · External reference
Innovative All-in-One Exome Sequencing Strategy for Diagnostic Genetic Testing in Male Infertility: Validation and 10-Month Experience
10.1111/andr.13742 · 2025 · External reference
A Systematic Review of the Validated Monogenic Causes of Human Male Infertility: 2020 Update and a Discussion of Emerging Gene–Disease Relationships
10.1093/humupd/dmab030 · 2021 · External reference
Non-Obstructive Azoospermia: Current and Future Perspectives
10.12703/r/10-7 · 2021 · External reference
Etiology of Male Infertility: An Update
10.1007/s43032-023-01401-x · 2024 · External reference
Exploration of the Genetic and Environmental Determinants of Male Infertility: A Comprehensive Review
10.1186/s43042-025-00703-w · 2025 · External reference
Updates to Male Infertility: AUA/ASRM Guideline (2024)
10.1097/ju.0000000000004180 · 2024 · External reference
The Expanding Diagnostic Toolbox for Rare Genetic Diseases
10.1038/s41576-023-00683-w · 2024 · External reference
Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients with Rare Phenotypes: A Systematic Review and Meta-Analysis
10.1002/ajmg.a.64146 · 2025 · External reference
A de Novo Paradigm for Male Infertility
10.1038/s41467-021-27132-8 · 2022 · External reference
Monogenic Causes of Non-Obstructive Azoospermia: Challenges, Established Knowledge, Limitations and Perspectives
10.1007/s00439-020-02112-y · 2021 · External reference
10.3390/genes15101315
10.3390/genes15101315 · External reference
Whole-Exome Sequencing of a Cohort of Infertile Men Reveals Novel Causative Genes in Teratozoospermia That Are Chiefly Related to Sperm Head Defects
10.1093/humrep/deab229 · 2022 · External reference
Genetics of Hypogonadotropic Hypogonadism—Human and Mouse Genes, Inheritance, Oligogenicity, and Genetic Counseling
10.1016/j.mce.2021.111334 · 2021 · External reference
10.3389/fendo.2025.1643543
10.3389/fendo.2025.1643543 · External reference
Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
10.1002/humu.23183 · 2017 · External reference
Meiotic Failure in Male Mice Lacking an X-Linked Factor
10.1101/gad.1613608 · 2008 · External reference
Meiotic Cohesin STAG3 Is Required for Chromosome Axis Formation and Sister Chromatid Cohesion
10.1002/embj.201387330 · 2014 · External reference
10.1371/journal.pgen.1004413
10.1371/journal.pgen.1004413 · External reference
10.1371/annotation/50260271-aed9-4316-b09a-304591b0cba5
10.1371/annotation/50260271-aed9-4316-b09a-304591b0cba5 · External reference
The Murine SCP3 Gene Is Required for Synaptonemal Complex Assembly, Chromosome Synapsis, and Male Fertility
10.1016/s1097-2765(00)80404-9 · 2000 · External reference
Absence of Mouse REC8 Cohesin Promotes Synapsis of Sister Chromatids in Meiosis
10.1016/j.devcel.2005.03.018 · 2005 · External reference
Positional Cloning and Characterization of Mouse Mei8, a Disrupted Allele of the Meiotic Cohesin Rec8
10.1002/gene.20085 · 2004 · External reference
10.1371/journal.pgen.1003784
10.1371/journal.pgen.1003784 · External reference
MEIOB Exhibits Single-Stranded DNA-Binding and Exonuclease Activities and Is Essential for Meiotic Recombination
10.1038/ncomms3788 · 2013 · External reference
The Mouse Meiotic Mutation Mei1 Disrupts Chromosome Synapsis with Sexually Dimorphic Consequences for Meiotic Progression
10.1006/dbio.2001.0535 · 2002 · External reference
Positional Cloning and Characterization of Mei1, a Vertebrate-Specific Gene Required for Normal Meiotic Chromosome Synapsis in Mice
10.1073/pnas.2432067100 · 2003 · External reference
Meiosis I Arrest Abnormalities Lead to Severe Oligozoospermia in Meiosis 1 Arresting Protein (M1ap)-Deficient Mice
10.1095/biolreprod.111.098673 · 2013 · External reference
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella
10.1016/j.ajhg.2017.04.012 · 2017 · External reference
Mutations in CFAP43 and CFAP44 Cause Male Infertility and Flagellum Defects in Trypanosoma and Human
10.1038/s41467-017-02792-7 · 2018 · External reference
Novel Homozygous CFAP69 Mutations in Humans and Mice Cause Severe Asthenoteratospermia with Multiple Morphological Abnormalities of the Sperm Flagella
10.1136/jmedgenet-2018-105486 · 2019 · External reference
Disruption of an Inner Arm Dynein Heavy Chain Gene Results in Asthenozoospermia and Reduced Ciliary Beat Frequency
10.1093/hmg/10.11.1117 · 2001 · External reference
Mutations in DNAH1, Which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella
10.1016/j.ajhg.2013.11.017 · 2014 · External reference
Bi-Allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility
10.1016/j.ajhg.2020.06.004 · 2020 · External reference
Novel Loss-of-function Variants in DNAH17 Cause Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice
10.1111/cge.13866 · 2021 · External reference
Absence of Dpy19l2, a New Inner Nuclear Membrane Protein, Causes Globozoospermia in Mice by Preventing the Anchoring of the Acrosome to the Nucleus
10.1242/dev.077982 · 2012 · External reference
10.3390/ijms18102208
10.3390/ijms18102208 · External reference
Loss of Zona Pellucida Binding Proteins in the Acrosomal Matrix Disrupts Acrosome Biogenesis and Sperm Morphogenesis
10.1128/mcb.01029-07 · 2007 · External reference
Differential Functions of the Aurora-B and Aurora-C Kinases in Mammalian Spermatogenesis
10.1210/me.2006-0332 · 2007 · External reference
Essential Role for SUN5 in Anchoring Sperm Head to the Tail
10.7554/elife.28199 · 2017 · External reference
10.3389/fcell.2021.684826
10.3389/fcell.2021.684826 · External reference
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome
10.1016/j.ajhg.2018.06.010 · 2018 · External reference
Sperm-Borne Phospholipase C Zeta-1 Ensures Monospermic Fertilization in Mice
10.1038/s41598-018-19497-6 · 2018 · External reference
PLCζ Is the Physiological Trigger of the Ca2+ Oscillations That Induce Embryogenesis in Mammals but Conception Can Occur in Its Absence
10.1242/dev.150227 · 2017 · External reference
10.1371/journal.pone.0338892
10.1371/journal.pone.0338892 · External reference
Diverse Monogenic Subforms of Human Spermatogenic Failure
10.1038/s41467-022-35661-z · 2022 · External reference
Toward Clinical Exomes in Diagnostics and Management of Male Infertility
10.1016/j.ajhg.2024.03.013 · 2024 · External reference
Genetic Insights into Non-Obstructive Azoospermia: Implications for Diagnosis and TESE Outcomes
10.1007/s10815-025-03409-5 · 2025 · External reference
Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility
10.5534/wjmh.240149 · 2025 · External reference
Variant Interpretation Using Population Databases: Lessons from gnomAD
10.1002/humu.24309 · 2022 · External reference
10.20944/preprints202511.1495.v1
10.20944/preprints202511.1495.v1 · External reference
Cost-Effectiveness of Exome and Genome Sequencing for Children with Rare and Undiagnosed Conditions
10.1016/j.gim.2022.03.005 · 2022 · External reference
Advancing Access to Genome Sequencing for Rare Genetic Disorders: Recent Progress and Call to Action
10.1038/s41525-024-00410-2 · 2024 · External reference
ACMG SF v3.2 List for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG)
10.1016/j.gim.2023.100866 · 2023 · External reference
Insight into the Complexity of Male Infertility: A Multi-Omics Review
10.1080/19396368.2024.2317804 · 2024 · External reference
Towards a Multi-Omics of Male Infertility
10.5534/wjmh.220186 · 2023 · External reference
Will Whole-Genome Sequencing Become the First-Line Genetic Analysis for Male Infertility in the near Future?
10.1186/s12610-021-00138-4 · 2021 · External reference
Long-Read Sequencing of CAH and ADPKD Provides Novel Insights Into the Genetic Diagnosis of Male Infertility
10.1002/rmb2.70038 · 2026 · External reference
SANRA—A scale for the quality assessment of narrative review articles
10.1186/s41073-019-0064-8 · 2019 · External reference
Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients with Rare Phenotypes: A Systematic Review and Meta-Analysis
10.1002/ajmg.a.64146 · ExternalCitation · doi-reference
Meiotic Cohesin STAG3 Is Required for Chromosome Axis Formation and Sister Chromatid Cohesion
10.1002/embj.201387330 · ExternalCitation · doi-reference
Positional Cloning and Characterization of Mouse Mei8, a Disrupted Allele of the Meiotic Cohesin Rec8
10.1002/gene.20085 · ExternalCitation · doi-reference
Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
10.1002/humu.23183 · ExternalCitation · doi-reference
Variant Interpretation Using Population Databases: Lessons from gnomAD
10.1002/humu.24309 · ExternalCitation · doi-reference
Long-Read Sequencing of CAH and ADPKD Provides Novel Insights Into the Genetic Diagnosis of Male Infertility
10.1002/rmb2.70038 · ExternalCitation · doi-reference
The Mouse Meiotic Mutation Mei1 Disrupts Chromosome Synapsis with Sexually Dimorphic Consequences for Meiotic Progression
10.1006/dbio.2001.0535 · ExternalCitation · doi-reference
Monogenic Causes of Non-Obstructive Azoospermia: Challenges, Established Knowledge, Limitations and Perspectives
10.1007/s00439-020-02112-y · ExternalCitation · doi-reference
Genetic Insights into Non-Obstructive Azoospermia: Implications for Diagnosis and TESE Outcomes
10.1007/s10815-025-03409-5 · ExternalCitation · doi-reference
Etiology of Male Infertility: An Update
10.1007/s43032-023-01401-x · ExternalCitation · doi-reference
Mutations in DNAH1, Which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella
10.1016/j.ajhg.2013.11.017 · ExternalCitation · doi-reference
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella
10.1016/j.ajhg.2017.04.012 · ExternalCitation · doi-reference
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome
10.1016/j.ajhg.2018.06.010 · ExternalCitation · doi-reference
Bi-Allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility
10.1016/j.ajhg.2020.06.004 · ExternalCitation · doi-reference
Toward Clinical Exomes in Diagnostics and Management of Male Infertility
10.1016/j.ajhg.2024.03.013 · ExternalCitation · doi-reference
Absence of Mouse REC8 Cohesin Promotes Synapsis of Sister Chromatids in Meiosis
10.1016/j.devcel.2005.03.018 · ExternalCitation · doi-reference
A Systematic Review and Meta-Analysis on the Impact of Infertility on Men’s General Health
10.1016/j.euf.2023.07.010 · ExternalCitation · doi-reference
Depression, Anxiety, Quality of Life, and Infertility: A Global Lens on the Last Decade of Research
10.1016/j.fertnstert.2024.01.013 · ExternalCitation · doi-reference
Cost-Effectiveness of Exome and Genome Sequencing for Children with Rare and Undiagnosed Conditions
10.1016/j.gim.2022.03.005 · ExternalCitation · doi-reference
ACMG SF v3.2 List for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG)
10.1016/j.gim.2023.100866 · ExternalCitation · doi-reference
Genetics of Hypogonadotropic Hypogonadism—Human and Mouse Genes, Inheritance, Oligogenicity, and Genetic Counseling
10.1016/j.mce.2021.111334 · ExternalCitation · doi-reference
The Murine SCP3 Gene Is Required for Synaptonemal Complex Assembly, Chromosome Synapsis, and Male Fertility
10.1016/s1097-2765(00)80404-9 · ExternalCitation · doi-reference
MEIOB Exhibits Single-Stranded DNA-Binding and Exonuclease Activities and Is Essential for Meiotic Recombination
10.1038/ncomms3788 · ExternalCitation · doi-reference
Mutations in CFAP43 and CFAP44 Cause Male Infertility and Flagellum Defects in Trypanosoma and Human
10.1038/s41467-017-02792-7 · ExternalCitation · doi-reference
A de Novo Paradigm for Male Infertility
10.1038/s41467-021-27132-8 · ExternalCitation · doi-reference
Diverse Monogenic Subforms of Human Spermatogenic Failure
10.1038/s41467-022-35661-z · ExternalCitation · doi-reference
Advancing Access to Genome Sequencing for Rare Genetic Disorders: Recent Progress and Call to Action
10.1038/s41525-024-00410-2 · ExternalCitation · doi-reference
The Expanding Diagnostic Toolbox for Rare Genetic Diseases
10.1038/s41576-023-00683-w · ExternalCitation · doi-reference
Sperm-Borne Phospholipase C Zeta-1 Ensures Monospermic Fertilization in Mice
10.1038/s41598-018-19497-6 · ExternalCitation · doi-reference
Positional Cloning and Characterization of Mei1, a Vertebrate-Specific Gene Required for Normal Meiotic Chromosome Synapsis in Mice
10.1073/pnas.2432067100 · ExternalCitation · doi-reference
Insight into the Complexity of Male Infertility: A Multi-Omics Review
10.1080/19396368.2024.2317804 · ExternalCitation · doi-reference
Disruption of an Inner Arm Dynein Heavy Chain Gene Results in Asthenozoospermia and Reduced Ciliary Beat Frequency
10.1093/hmg/10.11.1117 · ExternalCitation · doi-reference
Whole-Exome Sequencing of a Cohort of Infertile Men Reveals Novel Causative Genes in Teratozoospermia That Are Chiefly Related to Sperm Head Defects
10.1093/humrep/deab229 · ExternalCitation · doi-reference
A Systematic Review of the Validated Monogenic Causes of Human Male Infertility: 2020 Update and a Discussion of Emerging Gene–Disease Relationships
10.1093/humupd/dmab030 · ExternalCitation · doi-reference
Meiosis I Arrest Abnormalities Lead to Severe Oligozoospermia in Meiosis 1 Arresting Protein (M1ap)-Deficient Mice
10.1095/biolreprod.111.098673 · ExternalCitation · doi-reference
Updates to Male Infertility: AUA/ASRM Guideline (2024)
10.1097/ju.0000000000004180 · ExternalCitation · doi-reference
Meiotic Failure in Male Mice Lacking an X-Linked Factor
10.1101/gad.1613608 · ExternalCitation · doi-reference
How Exome Sequencing Improves the Diagnostics and Management of Men with Non-Syndromic Infertility
10.1111/andr.13728 · ExternalCitation · doi-reference
Innovative All-in-One Exome Sequencing Strategy for Diagnostic Genetic Testing in Male Infertility: Validation and 10-Month Experience
10.1111/andr.13742 · ExternalCitation · doi-reference
Utility of Exome Sequencing in Primary Spermatogenic Disorders: From Research to Diagnostics
10.1111/andr.13753 · ExternalCitation · doi-reference
Novel Loss-of-function Variants in DNAH17 Cause Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice
10.1111/cge.13866 · ExternalCitation · doi-reference
Loss of Zona Pellucida Binding Proteins in the Acrosomal Matrix Disrupts Acrosome Biogenesis and Sperm Morphogenesis
10.1128/mcb.01029-07 · ExternalCitation · doi-reference
Novel Homozygous CFAP69 Mutations in Humans and Mice Cause Severe Asthenoteratospermia with Multiple Morphological Abnormalities of the Sperm Flagella
10.1136/jmedgenet-2018-105486 · ExternalCitation · doi-reference
Will Whole-Genome Sequencing Become the First-Line Genetic Analysis for Male Infertility in the near Future?
10.1186/s12610-021-00138-4 · ExternalCitation · doi-reference
SANRA—A scale for the quality assessment of narrative review articles
10.1186/s41073-019-0064-8 · ExternalCitation · doi-reference
Exploration of the Genetic and Environmental Determinants of Male Infertility: A Comprehensive Review
10.1186/s43042-025-00703-w · ExternalCitation · doi-reference
Differential Functions of the Aurora-B and Aurora-C Kinases in Mammalian Spermatogenesis
10.1210/me.2006-0332 · ExternalCitation · doi-reference
Absence of Dpy19l2, a New Inner Nuclear Membrane Protein, Causes Globozoospermia in Mice by Preventing the Anchoring of the Acrosome to the Nucleus
10.1242/dev.077982 · ExternalCitation · doi-reference
PLCζ Is the Physiological Trigger of the Ca2+ Oscillations That Induce Embryogenesis in Mammals but Conception Can Occur in Its Absence
10.1242/dev.150227 · ExternalCitation · doi-reference
Non-Obstructive Azoospermia: Current and Future Perspectives
10.12703/r/10-7 · ExternalCitation · doi-reference
10.1371/annotation/50260271-aed9-4316-b09a-304591b0cba5
10.1371/annotation/50260271-aed9-4316-b09a-304591b0cba5 · ExternalCitation · doi-reference
10.1371/journal.pgen.1003784
10.1371/journal.pgen.1003784 · ExternalCitation · doi-reference
10.1371/journal.pgen.1004413
10.1371/journal.pgen.1004413 · ExternalCitation · doi-reference
10.1371/journal.pone.0288336
10.1371/journal.pone.0288336 · ExternalCitation · doi-reference
10.1371/journal.pone.0338892
10.1371/journal.pone.0338892 · ExternalCitation · doi-reference
10.20944/preprints202511.1495.v1
10.20944/preprints202511.1495.v1 · ExternalCitation · doi-reference
10.3389/fcell.2021.684826
10.3389/fcell.2021.684826 · ExternalCitation · doi-reference
10.3389/fendo.2025.1643543
10.3389/fendo.2025.1643543 · ExternalCitation · doi-reference
10.3390/genes15101315
10.3390/genes15101315 · ExternalCitation · doi-reference
10.3390/ijms18102208
10.3390/ijms18102208 · ExternalCitation · doi-reference
Towards a Multi-Omics of Male Infertility
10.5534/wjmh.220186 · ExternalCitation · doi-reference
Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility
10.5534/wjmh.240149 · ExternalCitation · doi-reference
Essential Role for SUN5 in Anchoring Sperm Head to the Tail
10.7554/elife.28199 · ExternalCitation · doi-reference
