Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum

World Health Organization reference values for human semen characteristics*‡

Cooper, T. G., Noonan, E., von Eckardstein, S., Auger, J., Baker, H. W. G., Behre, H. M., Haugen, T. B., Kruger, T., Wang, C., Mbizvo, M. T., et al. (2010) · Human Reproduction Update · doi:10.1093/humupd/dmp048 · Cited by 2,827 · see citing works

Development of an assay to assess the functional integrity of the human sperm membrane and its relationship to other semen characteristics

Jeyendran, R. S., der Ven, H. H. V., Perez‐Pelaez, M., Crabo, B. G., & Zaneveld, L. J. D. (1984) · Reproduction · doi:10.1530/jrf.0.0700219 · Cited by 1,722 · see citing works

Overview of Structure and Function of Mammalian Cilia

Satir, P., & Christensen, S. T. (2007) · Annual Review of Physiology · doi:10.1146/annurev.physiol.69.040705.141236 · Cited by 1,142 · see citing works

The International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) Revised Glossary on ART Terminology, 2009

Zegers-Hochschild, F., Adamson, G. D., de Mouzon, J., Ishihara, O., Mansour, R., Nygren, K., Sullivan, E., van der Poel, S., & WHO, O. B. O. I. A. (2009) · Human Reproduction · doi:10.1093/humrep/dep343 · Cited by 1,043 · see citing works

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

Ben Khelifa, M., Coutton, C., Zouari, R., Karaouzène, T., Rendu, J., Bidart, M., Yassine, S., Pierre, V., Delaroche, J., Hennebicq, S., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.11.017 · Cited by 474 · see citing works

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Merveille, A., Davis, E. E., Becker-Heck, A., Legendre, M., Amirav, I., Bataille, G., Belmont, J. W., Beydon, N., Billen, F., Clément, A., et al. (2010) · Nature Genetics · doi:10.1038/ng.726 · Cited by 352 · see citing works

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella

Tang, S., Wang, X., Li, W., Yang, X., Li, Z., Liu, W., Li, C., Zhu, Z., Wang, L., Wang, J., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.012 · Cited by 304 · see citing works

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

Coutton, C., Vargas, A. S., Amiri-Yekta, A., Kherraf, Z.-E., Ben Mustapha, S. F., Le Tanno, P., Wambergue-Legrand, C., Karaouzène, T., Martinez, G., Crouzy, S., et al. (2018) · Nature Communications · doi:10.1038/s41467-017-02792-7 · Cited by 245 · see citing works

The genetic architecture of morphological abnormalities of the sperm tail

Touré, A., Martinez, G., Kherraf, Z., Cazin, C., Beurois, J., Arnoult, C., Ray, P. F., & Coutton, C. (2020) · Human Genetics · doi:10.1007/s00439-020-02113-x · Cited by 221 · see citing works

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Whitfield, M., Thomas, L., Béquignon, É., Schmitt, A., Stouvenel, L., Montantin, G., Tissier, S., Duquesnoy, P., Copin, B., Chantot‐Bastaraud, S., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.04.015 · Cited by 195 · see citing works

Another look at human sperm morphology

Auger, J., Jouannet, P., & Eustache, F. (2015) · Human Reproduction · doi:10.1093/humrep/dev251 · Cited by 174 · see citing works

Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm immotility and primary sterility

Chemes, H., Brugo, S., Zanchetti, F., Carrere, C., & Lavieri, J. C. (1987) · Fertility and Sterility · doi:10.1016/s0015-0282(16)59482-5 · Cited by 167 · see citing works

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse

Dong, F. N., Amiri‐Yekta, A., Martinez, G., Saut, A., Tek, J., Stouvenel, L., Lorès, P., Karaouzène, T., Thierry‐Mieg, N., Satre, V., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.03.007 · Cited by 166 · see citing works

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

Shen, Y., Zhang, F., Li, F., Jiang, X., Yang, Y., Li, X., Li, W., Wang, X., Cheng, J., Liu, M., et al. (2019) · Nature Communications · doi:10.1038/s41467-018-08182-x · Cited by 164 · see citing works

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

Coutton, C., Martinez, G., Kherraf, Z., Amiri‐Yekta, A., Boguenet, M., Saut, A., He, X., Zhang, F., Christou‐Kent, M., Escoffier, J., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.12.013 · Cited by 154 · see citing works

Absolute asthenozoospermia and ICSI: what are the options?

Ortega, C., Verheyen, G., Raick, D., Camus, M., Devroey, P., & Tournaye, H. J. (2011) · Human Reproduction Update · doi:10.1093/humupd/dmr018 · Cited by 152 · see citing works

A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF)

Sha, Y.-W., Xu, X., Mei, L., Li, P., Su, Z., He, X., & Li, L. (2017) · Gene · doi:10.1016/j.gene.2017.08.033 · Cited by 142 · see citing works

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

Liu, W., He, X., Yang, S., Zouari, R., Wang, J., Wu, H., Kherraf, Z., Liu, C., Coutton, C., Zhao, R., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.02.020 · Cited by 128 · see citing works

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia

Lorès, P., Coutton, C., Khouri, E. E., Stouvenel, L., Givelet, M., Thomas, L., Rode, B., Schmitt, A., Louis, B., Sakheli, Z., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy034 · Cited by 124 · see citing works

Does intracytoplasmic sperm injection improve the fertilization rate and decrease the total fertilization failure rate in couples with well-defined unexplained infertility? A systematic review and meta-analysis

Johnson, L. N. C., Sasson, I. E., Sammel, M. D., & Dokras, A. (2013) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.04.038 · Cited by 123 · see citing works

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations

Amiri‐Yekta, A., Coutton, C., Kherraf, Z., Karaouzène, T., Tanno, P. L., Sanati, M. H., Sabbaghian, M., Almadani, N., Gilani, M. A. S., Hosseini, S., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew262 · Cited by 123 · see citing works

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Martinez, G., Kherraf, Z., Zouari, R., Mustapha, S. F. B., Saut, A., Pernet‐Gallay, K., Bertrand, A., Bidart, M., Hograindleur, J. P., Amiri‐Yekta, A., et al. (2018) · Human Reproduction · doi:10.1093/humrep/dey264 · Cited by 118 · see citing works

Patients with multiple morphological abnormalities of the sperm flagella due toDNAH1mutations have a good prognosis following intracytoplasmic sperm injection

Wambergue, C., Zouari, R., Mustapha, S. F. B., Martinez, G., Devillard, F., Hennebicq, S., Satre, V., Brouillet, S., Halouani, L., Marrakchi, O., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew083 · Cited by 118 · see citing works

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

Kherraf, Z., Amiri‐Yekta, A., Dacheux, D., Karaouzène, T., Coutton, C., Christou‐Kent, M., Martinez, G., Landrein, N., Tanno, P. L., Mustapha, S. F. B., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.07.014 · Cited by 113 · see citing works

DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella

Li, Y., Sha, Y., Wang, X., Ding, L., Liu, W., Ji, Z., Mei, L., Huang, X., Lin, S., Kong, S., et al. (2019) · Clinical Genetics · doi:10.1111/cge.13525 · Cited by 111 · see citing works

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

Li, W., Wu, H., Li, F., Tian, S., Kherraf, Z., Zhang, J., Ni, X., Lv, M., Liu, C., Tan, Q., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106344 · Cited by 105 · see citing works

The making of abnormal spermatozoa: cellular and molecular mechanisms underlying pathological spermiogenesis

Chemes, H., & Rawe, V. Y. (2010) · Cell and Tissue Research · doi:10.1007/s00441-010-1007-3 · Cited by 102 · see citing works

DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population

Sha, Y., Yang, X., Mei, L., Ji, Z., Wang, X., Ding, L., Li, P., & Yang, S. (2017) · Fertility and Sterility · doi:10.1016/j.fertnstert.2017.04.007 · Cited by 97 · see citing works

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Auguste, Y., Delague, V., Desvignes, J., Longepied, G., Gnisci, A., Besnier, P., Lévy, N., Béroud, C., Mégarbané, A., Metzler‐Guillemain, C., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.07.013 · Cited by 96 · see citing works

Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice

Liu, C., He, X., Liu, W., Yang, S., Wang, L., Li, W., Wu, H., Tang, S., Ni, X., Wang, J., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.10.010 · Cited by 94 · see citing works

Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese

Wang, X., Jin, H., Han, F., Cui, Y., Chen, J., Yang, C., Zhu, P., Wang, W., Jiao, G., Wang, W., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12857 · Cited by 94 · see citing works

The deferred embryo transfer strategy improves cumulative pregnancy rates in endometriosis-related infertility: A retrospective matched cohort study

Bourdon, M., Santulli, P., Maignien, C., Gayet, V., Pocate-Cheriet, K., Marcellin, L., & Chapron, C. (2018) · PLoS ONE · doi:10.1371/journal.pone.0194800 · Cited by 84 · see citing works

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

Liu, C., Lv, M., He, X., Zhu, Y., Amiri‐Yekta, A., Li, W., Wu, H., Kherraf, Z., Liu, W., Zhang, J., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106011 · Cited by 82 · see citing works

Hypo-osmotic swelling test identifies individual spermatozoa with minimal DNA fragmentation

Stanger, J. D., Vo, L., Yovich, J. L., & Almahbobi, G. (2010) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2010.06.026 · Cited by 82 · see citing works

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

Lv, M., Liu, W., Chi, W., Ni, X., Wang, J., Cheng, H., Li, W., Yang, S., Wu, H., Zhang, J., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106479 · Cited by 81 · see citing works

Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

Li, W., He, X., Yang, S., Liu, C., Wu, H., Liu, W., Lv, M., Tang, D., Tan, J. Y., Tang, S., et al. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0520-1 · Cited by 75 · see citing works

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

Beurois, J., Martinez, G., Cazin, C., Kherraf, Z., Amiri‐Yekta, A., Thierry‐Mieg, N., Bidart, M., Pètre, G., Satre, V., Brouillet, S., et al. (2019) · Human Reproduction · doi:10.1093/humrep/dez166 · Cited by 75 · see citing works

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Martinez, G., Beurois, J., Dacheux, D., Cazin, C., Bidart, M., Kherraf, Z., Robinson, D. R., Satre, V., Gac, G. L., Ka, C., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106775 · Cited by 74 · see citing works

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

Lorès, P., Dacheux, D., Kherraf, Z., Mbango, J.-F. N., Coutton, C., Stouvenel, L., Ialy‐Radio, C., Amiri‐Yekta, A., Whitfield, M., Schmitt, A., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.10.007 · Cited by 73 · see citing works

Outcome of ICSI with ejaculated spermatozoa in a series of men with distinct ultrastructural flagellar abnormalities

Mitchell, V. A., Rives, N., Albert, M., Peers, M.-C., Selva, J., Clavier, B., Escudier, E. F., & Escalier, D. (2006) · Human Reproduction · doi:10.1093/humrep/del130 · Cited by 61 · see citing works

A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella

Zhang, X., Shen, Y., Wang, X., Yuan, G., Zhang, C., & Yang, Y. (2019) · Clinical Genetics · doi:10.1111/cge.13644 · Cited by 58 · see citing works

Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella

Yang, Y., Jiang, C., Zhang, X., Liu, X., Li, J., Qiao, X., Liu, H., & Shen, Y. (2020) · Clinical Genetics · doi:10.1111/cge.13815 · Cited by 45 · see citing works

Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection

Sha, Y.-W., Wang, X., Su, Z., Mei, L., Ji, Z., Bao, H., & Li, P. (2018) · Andrologia · doi:10.1111/and.13151 · Cited by 40 · see citing works

Comparison of in vitro fertilization versus intracytoplasmic sperm injection in extremely low oocyte retrieval cycles

Ou, Y., Lan, K., Huang, F.-J., Kung, F., Lan, T., & Chang, S. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.09.039 · Cited by 39 · see citing works

NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF)

Wu, H., Li, W., He, X., Liu, C., Fang, Y., Zhu, F., Jiang, H., Liu, W., Song, B., Wang, X. B., et al. (2018) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2018.12.037 · Cited by 39 · see citing works

Is the nuclear status of an embryo an independent factor to predict its ability to develop to term?

Fauque, P., Audureau, É., Léandri, R. D., Delaroche, L., Assouline, S. C., Epelboin, S., Jouannet, P., & Patrat, C. (2013) · Fertility and Sterility · doi:10.1016/j.fertnstert.2012.12.028 · Cited by 28 · see citing works

New fibrous sheath anomaly in spermatozoa of men with consanguinity

Escalier, D., & Albert, M. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2005.12.042 · Cited by 25 · see citing works

Arrest of flagellum morphogenesis with fibrous sheath immaturity of human spermatozoa

Escalier, D. (2006) · Andrologia · doi:10.1111/j.1439-0272.2006.00711.x · Cited by 25 · see citing works

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

Yang, L., Banerjee, S., Cao, J., Bai, X., Peng, Z., Chen, H., Huang, H., Han, P., Feng, S., Yi, N., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00023 · Cited by 19 · see citing works

Clinical and Structural Features of Sperm Head Vacuoles in Men Included in the In Vitro Fertilization Programme

Fekonja, N., Štrus, J., Žnidarič, M. T., Knez, K., Bokal, E. V., Verdenik, I., & Virant‐Klun, I. (2014) · BioMed Research International · doi:10.1155/2014/927841 · Cited by 18 · see citing works

Assisted reproduction technique outcomes for fresh versus deferred cryopreserved day-2 embryo transfer: a retrospective matched cohort study

Bourdon, M., Santulli, P., Gayet, V., Maignien, C., Marcellin, L., Pocate-Cheriet, K., & Chapron, C. (2016) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2016.11.015 · Cited by 15 · see citing works

[Ultrastructural study of anomalies of the acrosome in spermatozoa with irregular heads].

Jp, B., David, G., & Magnin, C. (1975) · PubMed · Cited by 3 · see citing works

Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

Yang, L., Banerjee, S., Cao, J., Bai, X., Peng, Z., Chen, H., Huang, H., Han, P., Feng, S., Yi, N., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00109 · Cited by 1 · see citing works

The changing tide of human fertility

Aitken, R. J. (2022) · Human Reproduction · doi:10.1093/humrep/deac011 · Cited by 129 · see citing works

Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice

Meng, G., Wang, Y., Luo, C., Tan, Y., Li, Y., Tan, C., Tu, C., Zhang, Q.-J., Hu, L., Zhang, H., et al. (2024) · Human Reproduction Open · doi:10.1093/hropen/hoae003 · Cited by 34 · see citing works

Population decline: where demography, social science, and biology intersect

Aitken, R. J. (2024) · Reproduction · doi:10.1530/rep-24-0070 · Cited by 33 · see citing works

Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome

Song, B., Yang, T., Shen, Q., Liu, Y., Wang, C., Li, G., Gao, Y., Cao, Y., & He, X. (2023) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-023-02897-7 · Cited by 30 · see citing works

The Global Decline in Human Fertility: The Post-Transition Trap Hypothesis

Aitken, R. J. (2024) · Life · doi:10.3390/life14030369 · Cited by 34 · see citing works

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

Stallmeyer, B., Dicke, A., & Tüttelmann, F. (2024) · Andrology · doi:10.1111/andr.13728 · Cited by 30 · see citing works

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Cavarocchi, E., Drouault, M., Ribeiro, J. C., Simon, V., Whitfield, M., & Touré, A. (2025) · Andrology · doi:10.1111/andr.13828 · Cited by 26 · see citing works

The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice

Zhou, Y., Yu, S., & Zhang, W. (2024) · Genes · doi:10.3390/genes15101315 · Cited by 24 · see citing works

CCDC65 , encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans

Jreijiri, F., Cavarocchi, E., Amiri‐Yekta, A., Cazin, C., Hosseini, S., Khouri, E. E., Patrat, C., Thierry‐Mieg, N., Ray, P. F., Dulioust, E., et al. (2023) · Clinical Genetics · doi:10.1111/cge.14459 · Cited by 21 · see citing works

Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella

Wang, M., Yang, Q., Zhou, J., Tan, H., Hu, J., Jin, L., & Zhu, L. (2022) · Asian Journal of Andrology · doi:10.4103/aja202292 · Cited by 20 · see citing works

Low human sperm motility coexists with sperm nuclear DNA damage and oxidative stress in semen

Gill, K., Machałowski, T., Harasny, P., Grabowska, M., Duchnik, E., & Piasecka, M. (2023) · Andrology · doi:10.1111/andr.13556 · Cited by 18 · see citing works

Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants

Geng, H., Wang, K., Liang, D., Ni, X., Yu, H. M., Tang, D., Lv, M., Wu, H., Li, K., Shen, Q., et al. (2024) · iScience · doi:10.1016/j.isci.2024.110366 · Cited by 16 · see citing works

Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection

Ma, J., Long, S., Yu, H., Xiang, Y., Tang, X., Li, J., Liu, W., Han, W., Jin, R., Huang, G., et al. (2023) · Asian Journal of Andrology · doi:10.4103/aja2022118 · Cited by 14 · see citing works

Decreased embryo developmental potential and lower cumulative pregnancy rate in men with multiple morphological abnormalities of the sperm flagella

Long, R., Wang, M., Zhou, J., Mao, R., Wang, C., Gu, L., Chen, Y., Jin, L., & Zhu, L. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1377780 · Cited by 14 · see citing works

A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella

Chang, T., Tang, H. L., Zhou, X., He, J., Liu, N., Li, Y., Xiang, W., & Yao, Z. (2023) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2023.103765 · Cited by 11 · see citing works

Melatonin ameliorates PM2 .5‐induced spermatogenesis disorder by preserving H3K9 methylation and SIRT3

Liu, J., Zhao, M., Dong, X., Zhang, Y., Xue, J., Duan, J., Sun, Z., & Zhou, X. (2023) · Environmental Toxicology · doi:10.1002/tox.24028 · Cited by 10 · see citing works

Intracytoplasmic sperm injection is still the best management of male factor infertility

Xie, P., Cheung, S. K., Kocur, O. M., Ng, L., Jesus, A. D., Rosenwaks, Z., Palermo, G. D., Aitken, R. J., & Schlegel, P. N. (2024) · Fertility and Sterility · doi:10.1016/j.fertnstert.2024.02.025 · Cited by 10 · see citing works

Genetics of infertility: a paradigm shift for medically assisted reproduction

Verpoest, W., Okutman, Ö., Kelen, A. V. D., Sermon, K., & Viville, S. (2023) · Human Reproduction · doi:10.1093/humrep/dead199 · Cited by 10 · see citing works

Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella

Barbotin, A., Boursier, A., Jourdain, A., Moerman, A., Rabat, B., Chehimi, M., Thuillier, C., Ghoumid, J., & Smol, T. (2024) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-024-03139-0 · Cited by 10 · see citing works

Novel variants in DNAH17 cause sperm flagellar outer dynein arm defects but not total fertilization failure after ICSI

Tang, X., Long, S., Xie, F., Ma, J., Liu, G., Liao, H., Hu, T., Yu, H., Liu, L., Huang, G., et al. (2024) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2024.104492 · Cited by 8 · see citing works

Absence of Rnf126 causes male infertility with multiple morphological abnormalities of the sperm flagella

Wang, S., Qin, Z., Liu, J., Liu, J., Xiong, Q., Wei, Z., Li, W., & Cao, Y. (2025) · Cell Death Discovery · doi:10.1038/s41420-025-02432-w · Cited by 6 · see citing works

Acupuncture mediates the “gut–testis axis” to improve asthenozoospermia

Hao, J., Xu, H., Chang, B., Ren, J., Wang, H., & Ji, L. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1514010 · Cited by 5 · see citing works

Deep learning-enabled morphology analysis of bovine sperm for label-free imaging flow cytometry

Umirbaeva, A., Kurenkov, A., Seisenov, B., Zhumanov, K., TAJIYEV, K., Mustafin, M., Vorobjev, I. A., & Barteneva, N. S. (2026) · Frontiers in Veterinary Science · doi:10.3389/fvets.2026.1634224 · Cited by 5 · see citing works

Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy

Boursier, A., Boudry, A., Mitchell, V. A., Loyens, A., Rives, N., Moerman, A., Thomas, L., Escudier, E. F., Touré, A., Whitfield, M., et al. (2023) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2023.103328 · Cited by 5 · see citing works

Novel variants of FSIP2 and SPEF2 cause varying degrees of spermatozoa damage in MMAF patients and favorable ART outcomes

Dai, C., Yin, X., Peng, Z.-Y., Lin, H., Zhang, P., Liu, G., & Li, W. (2025) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-024-03378-1 · Cited by 3 · see citing works

Nuclear sperm integrity and ICSI prognosis in Tunisian patients with MMAF syndrome (multiple morphological abnormalities of the sperm flagella)

Braham, A., Ghédir, H., Khedher, M. B. B., Ajina, M., Saâd, A., & Ibala‐Romdhane, S. (2023) · Human Fertility · doi:10.1080/14647273.2023.2251679 · Cited by 3 · see citing works

Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group

Gatimel, N., Barbotin, A., Mery, L., Beauvillard, D., Bendayan, M., Boursier, A., Boueilh, T., Pereira, B., Chammas, J., Jacquet, J., et al. (2026) · Andrology · doi:10.1111/andr.70134 · Cited by 2 · see citing works

A comprehensive study of the sperm head defects in MMAF condition and their impact on embryo development in mice

Muroňová, J., Lambert, E., Thamwan, C., Wehbe, Z., Court, M., Chevalier, G., Escoffier, J., Kherraf, Z., Coutton, C., Nef, S., et al. (2025) · Molecular Human Reproduction · doi:10.1093/molehr/gaaf006 · Cited by 2 · see citing works

Male infertility in Central Asia: the first report from the region

Задубенко, Д. В., Tufuminova, Y. S., Lebedeva, L., Pak, M. I., Султанова, Д. Н., Aytasheva, Z., Голиченков, В. А., & Lokshin, V. N. (2025) · Russian Journal of Human Reproduction · doi:10.17116/repro20253103192 · Cited by 2 · see citing works

Single nucleotide polymorphisms of CFAP43 and TEX14 associated with idiopathic male infertility in a Vietnamese population

Định, T. H., Anh, N. P., Thao, D. H., Duy, L. D., Bac, N. D., Quyet, P. V., Son, T. T., Anh, L. T. L., Canh, N. X., Hải, N. V., et al. (2024) · Medicine · doi:10.1097/md.0000000000039839 · Cited by 1 · see citing works

Analysis of ultrastructural defects in sperm by transmission electron microscopy in asthenozoospermia patients: a study from multiple centers across China

Lv, M., Wang, H.-X., Chen, H., Gao, J., Song, H., Zhang, Y., Li, T., Ling, X., Zhu, L.-J., Nong, J.-R., et al. (2025) · Biomarker Research · doi:10.1186/s40364-025-00841-8 · Cited by 1 · see citing works

Impacts of UC-MSCS on the quality of sperm in asthenoteratozoospermia

Margiana, R., Adriansyah, R. F., Soebadi, M. A., I’tishom, R., Graciana, T., & Lestari, S. W. (2024) · Salud Ciencia y Tecnología · doi:10.56294/saludcyt20251104 · Cited by 1 · see citing works

Male fertility: summary overview of the publications October – December 2021

Rogozin, D. S. (2022) · Urology Herald · doi:10.21886/2308-6424-2022-10-1-135-146

The impact of ultrastructural tail abnormalities on sperm motility among infertile men

Montaser, M., El‐Ammawi, T. S., Sayed, H., & Rezk, A. Y. (2023) · Human Andrology · doi:10.21608/ha.2023.234524.1106

A novel homozygous splicing mutation in AK7 associated with multiple morphological abnormalities of the sperm flagella

Greither, T., & Herlyn, H. (2024) · Asian Journal of Andrology · doi:10.4103/aja202479

Establishing the causative link between CFAP221 variants and asthenoteratozoospermia in humans

Shen, G., Tian, E., Jiang, C., Tian, Y., Zhang, Y., Wang, X., Gu, J. H., Shen, Y., & Geng, F. (2025) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-025-03472-y

Novel DNAH17 Splice-Site Mutations Truncating the AAA6 Domain Cause Asthenozoospermia with MMAF

Feng, L., Wan, F., Cui, C., Feng, K., Xia, Y., Qu, X., Yang, B., Wang, J., Wang, L., Zhang, C., et al. (2025) · Reproductive Sciences · doi:10.1007/s43032-025-02002-6

DNAH3 interacts with DNALI1 and is required for sperm flagellum function and male fertility

Yue, Q., Zhang, H., Xu, B., Chen, M., Ma, A., Li, J., Yan, D., Jiang, Y., Qian, B., Li, M., et al. (2026) · Reproductive Biology and Endocrinology · doi:10.1186/s12958-026-01538-9

Applied Molecular Biology and Genetics in Obstetrics and Gynecology

Savadogo/Komboigo, B. E., Ouédraogo, B., Ouedraogo, P., Ouédraogo, C. M. R., Djigma, F. W., & Simporè, J. (2026) · Open Journal of Obstetrics and Gynecology · doi:10.4236/ojog.2026.163050

Pathogenic variants in ACTRT3 lead to male infertility characterized by fertilization defects

Zhu, H., Shi, R., Zou, G., Diao, F., Yu, R., Qu, R., Liu, R., Shi, J., Zhang, Z., Wu, T., et al. (2026) · Human Reproduction · doi:10.1093/humrep/deag097

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Mokkedem, W., Wehbe, Z., Barbotin, A., Boursier, A., Tebbakh, C., Thierry‐Mieg, N., Bidart, M., Migliaccio, A., Chianese, R., Arnoult, C., et al. (2026) · Clinical Genetics · doi:10.1111/cge.70220

A novel frameshift variant in TTC29 associated with total asthenozoospermia and male infertility

Li, L., Wan, F., Feng, K., Qu, X., Xia, Y., Dong, J., Liu, Y., Zhao, Y., Zhu, G., Yin, B., et al. (2026) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2026.1937470

Exploratory Whole-Genome Profiling of Greek Men with Oligozoospermia: Identification of Candidate Variants, Genes, and Biological Pathways

Kyrgiafini, M.-A., Vetsika, G., Πάτσαλη, Γ. Θ., Kaltsas, A., Stamatellos, G., & Mamuris, Z. (2026) · Genes · doi:10.3390/genes17101187

Axonemal dynein gene dysfunction as a cause of male infertility: insights from DNAH family mutations

Ajeesh, A., & Balunathan, N. (2026) · Gene · doi:10.1016/j.gene.2026.150435

O-092 Sperm phenotype, ICSI outcome and genetic diagnosis in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum

Ferreux, L., Bourdon, M., Chargui, A. T., Schmitt, A., Stouvenel, L., Lorès, P., Ray, P. F., Lousqui, J., Pocate-Cheriet, K., Santulli, P., et al. (2021) · Human Reproduction · doi:10.1093/humrep/deab125.022

Intracytoplasmic sperm injection outcomes in Chinese men with multiple morphological abnormalities of sperm flagella

Liu, J., Yang, S.-M., Yang, X., Ding, Y., Li, H., Wang, W., & Wen, D.-G. (2015) · Asian Journal of Andrology · doi:10.4103/1008-682x.167722 · Cited by 6 · see citing works

Successful intracytoplasmic sperm injection with testicular spermatozoa from a man with multiple morphological abnormalities of the sperm flagella: a case report

Yang, S., Gao, L., Wang, W. T., Ding, J., Xu, Y., & Li, H. (2017) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-017-1057-5 · Cited by 13 · see citing works

Decreased embryo developmental potential and lower cumulative pregnancy rate in men with multiple morphological abnormalities of the sperm flagella

Long, R., Wang, M., Zhou, J., Mao, R., Wang, C., Gu, L., Chen, Y., Jin, L., & Zhu, L. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1377780 · Cited by 14 · see citing works

Sperm aneuploidy rate and intracytoplasmic sperm injection outcomes in five Chinese patients with multiple morphological abnormalities of sperm flagella

Feng, Z., Wei, L., Cheng, L., & Tan, L. (2020) · Chin J Reprod Contracep · doi:10.3760/cma.j.cn101441-20190130-00036