What We Do
Consortium Publications


Barratt CLR, De Jonge CJ, Anderson RA, et al (2021). A global approach to addressing the policy, research and social challenges of male reproductive health. Human Reproduction Open, 2021(1).

Batiha O, Burghel GJ, Alkofahi A, et al (2021). Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males. Human Fertility, 1–8.

Hardy JJ, Wyrwoll MJ, Mcfadden W, et al (2021). Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. Human Genetics, 140(8), 1169–1182.

Liu C, Tu C, Wang L, et al (2021). Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. The American Journal of Human Genetics, 108(2), 309–323.

Nagirnaja L, Mørup N, Nielsen JE, et al (2021). Variant PNLDC1 , Defective piRNA Processing, and Azoospermia. New England Journal of Medicine, NEJMoa2028973.

Oud MS, Volozonoka L, Friedrich C, et al (2021). Lack of evidence for a role of PIWIL1 variants in human male infertility. Cell, 184(8), 1941–1942.

Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, et al (2021). Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Human Genetics, 140(1), 217–227.

Torres-Fernández LA, Emich J, Port Y, et al (2021). TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility. Frontiers in Cell and Developmental Biology, 9.

Xavier MJ, Salas-Huetos A, Oud MS, et al (2021). Disease gene discovery in male infertility: past, present and future. Human Genetics, 140(1), 7–19.


Almstrup K, Lobo J, Mørup N, et al (2020) Application of miRNAs in the diagnosis and monitoring of testicular germ cell tumours. Nat Rev Urol 17:201–213.

Araujo TF, Friedrich C, Grangeiro CHP, et al (2020) Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes. Andrology 8:434–441.

Bustamante-Marin XM, Shapiro A, Sears PR, et al (2020) Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Genet 65:175–180.

Houston BJ, Conrad DF, O’Bryan MK (2020) A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse. Hum Genet.

Houston BJ, Oud MS, Aguirre DM, et al (2020) Programmed Cell Death 2-like ( Pdcd2l ) Is Required for Mouse Embryonic Development. g3.401714.2020.

Krausz C, Riera-Escamilla A, Moreno-Mendoza D, et al (2020) Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. Genet Med.

Krenz H, Gromoll J, Darde T, et al (2020) The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICS data in the context of male infertility. Hum Reprod 35:1983–1990.

Murphy PJ, Guo J, Jenkins TG, et al (2020) NRF2 loss recapitulates heritable impacts of paternal cigarette smoke exposure. PLoS Genet 16:e1008756.

Okutman Ö, Demirel C, Tülek F, et al (2020) Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. Genes (Basel) 11:382.

Oud MS, Okutman Ö, Hendricks LAJ, et al (2020) Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. Hum Reprod 35:240–252.

Patel DP, Jenkins TG, Aston KI, et al (2020) Harnessing the full potential of reproductive genetics and epigenetics for male infertility in the era of “big data”. Fertil Steril 113:478–488.

Salas-Huetos A, James ER, Aston KI, et al (2020) The role of miRNAs in male human reproduction: a systematic review. Andrology 8:7–26.

Schilit SLP, Menon S, Friedrich C, et al (2020) SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. Am J Hum Genet 106:41–57.

Soraggi S, Riera M, Rajpert-De Meyts E, et al (2020) Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single-cell transcriptomics of the human testis? Hum Genet.

Winge SB, Soraggi S, Schierup MH, et al (2020) Integration and reanalysis of transcriptomics and methylomics data derived from blood and testis tissue of men with 47,XXY Klinefelter syndrome indicates the primary involvement of Sertoli cells in the testicular pathogenesis. Am J Med Genet Part C Semin Med Genet 184:239–255.

Wyrwoll MJ, Temel ŞG, Nagirnaja L, et al (2020) Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. Am J Hum Genet 107:342–351.


Catford S, O’Bryan M, McLachlan R, et al (2019) Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2. Reprod Biomed Online 38:961–965.

Cioppi F, Casamonti E, Krausz C (2019) Age-Dependent De Novo Mutations During Spermatogenesis and Their Consequences. pp 29–46

Cioppi F, Riera‐Escamilla A, Manilall A, et al (2019) Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature. Andrology 7:88–101.

Gaikwad AS, Anderson AL, Merriner DJ, et al (2019) GLIPR1L1 is an IZUMO-binding protein required for optimal fertilization in the mouse. BMC Biol 17:86.

Ghédir H, Braham A, Viville S, et al (2019) Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients. Andrologia 51:e13277.

Goldmann JM, Veltman JA, Gilissen C (2019) De Novo Mutations Reflect Development and Aging of the Human Germline. Trends Genet 35:828–839.

Jenkins TG, James ER, Aston KI, et al (2019) Age-associated sperm DNA methylation patterns do not directly persist trans-generationally. Epigenetics Chromatin 12:74.

Jung M, Wells D, Rusch J, et al (2019) Unified single-cell analysis of testis gene regulation and pathology in five mouse strains. Elife 8:.

Krausz C, Riera-Escamilla A (2019) Monogenic Forms of Male Infertility. pp 341–366

Krausz C, Riera-Escamilla A, Chianese C, et al (2019) From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. Genet Med 21:189–194.

Kumar K, Trzybulska D, Tsatsanis C, et al (2019) Identification of circulating small non-coding RNAs in relation to male subfertility and reproductive hormones. Mol Cell Endocrinol 492:110443.

Lee AS, Rusch J, Lima AC, et al (2019) Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. Nat Commun 10:4626.

Lim S, Kierzek M, O’Connor AE, et al (2019) CRISP2 Is a Regulator of Multiple Aspects of Sperm Function and Male Fertility. Endocrinology 160:915–924.

Moreno-Mendoza D, Casamonti E, Paoli D, et al (2019) gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study. Eur J Hum Genet 27:1578–1588.

Novakovic B, Lewis S, Halliday J, et al (2019) Assisted reproductive technologies are associated with limited epigenetic variation at birth that largely resolves by adulthood. Nat Commun 10:3922.

Oud MS, Volozonoka L, Smits RM, et al (2019) A systematic review and standardized clinical validity assessment of male infertility genes. Hum Reprod 34:932–941.

Pleuger C, Lehti MS, Cooper M, et al (2019) CBE1 is a manchette and mitochondria associated protein with a potential role in somatic cell proliferation. Endocrinology.

Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, et al (2019) Sequencing of a ‘mouse azoospermia’ gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. Hum Reprod 34:978–988.

Salas-Huetos A, James ER, Aston KI, et al (2019) Diet and sperm quality: Nutrients, foods and dietary patterns. Reprod Biol 19:219–224.

Salas-Huetos A, James ER, Aston KI, et al (2019) The Expression of miRNAs in Human Ovaries, Oocytes, Extracellular Vesicles, and Early Embryos: A Systematic Review. Cells 8:.

Smits RM, Oud MS, Vissers LELM, et al (2019) Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series. Reprod Biomed Online 39:963–968.

van der Bijl N, Röpke A, Biswas U, et al (2019) Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest. Hum Reprod.

Vockel M, Riera-Escamilla A, Tüttelmann F, Krausz C (2019) The X chromosome and male infertility. Hum Genet.


Catford SR, McLachlan RI, O’Bryan MK, Halliday JL (2018) Long-term follow-up of ICSI-conceived offspring compared with spontaneously conceived offspring: a systematic review of health outcomes beyond the neonatal period. Andrology 6:635–653.

Jenkins TG, Aston KI, Cairns B, et al (2018) Paternal germ line aging: DNA methylation age prediction from human sperm. BMC Genomics 19:763.

Kasak L, Punab M, Nagirnaja L, et al (2018) Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. Am J Hum Genet 103:200–212.

Krausz C, Cioppi F, Riera-Escamilla A (2018) Testing for genetic contributions to infertility: potential clinical impact. Expert Rev Mol Diagn 18:331–346.

Krausz C, Riera-Escamilla A (2018) Genetics of male infertility. Nat Rev Urol 15:369–384.

Kumar K, Lewis S, Vinci S, et al (2018) Evaluation of sperm DNA quality in men presenting with testicular cancer and lymphoma using alkaline and neutral Comet assays. Andrology 6:230–235.

Nagirnaja L, Aston KI, Conrad DF (2018) Genetic intersection of male infertility and cancer. Fertil Steril 109:20–26.

Okutman O, Rhouma M Ben, Benkhalifa M, et al (2018) Genetic evaluation of patients with non-syndromic male infertility. J Assist Reprod Genet 35:1939–1951.

Tüttelmann F, Ruckert C, Röpke A (2018) Disorders of spermatogenesis. Medizinische Genet 30:12–20.


Anderson RE, Hanson HA, Lowrance WT, et al (2017) Childhood Cancer Risk in the Siblings and Cousins of Men with Poor Semen Quality. J Urol 197:898–905.

Catford SR, McLachlan RI, O’Bryan MK, Halliday JL (2017) Long-term follow-up of intra-cytoplasmic sperm injection-conceived offspring compared with in vitro fertilization-conceived offspring: a systematic review of health outcomes beyond the neonatal period. Andrology 5:610–621.

Dunleavy JEM, Okuda H, O’Connor AE, et al (2017) Katanin-like 2 (KATNAL2) functions in multiple aspects of haploid male germ cell development in the mouse. PLOS Genet 13:e1007078.

Ho NRY, Usmani AR, Yin Y, et al (2017) Multiplex shRNA Screening of Germ Cell Development by in Vivo Transfection of Mouse Testis. G3 (Bethesda) 7:247–255.

Jenkins TG, James ER, Alonso DF, et al (2017) Cigarette smoking significantly alters sperm DNA methylation patterns. Andrology 5:1089–1099.

Krausz C, Casamonti E (2017) Spermatogenic failure and the Y chromosome. Hum Genet 136:637–655.

Mørup N, Busch AS, Bang AK, et al (2017) Polymorphisms in JMJD1C are associated with pubertal onset in boys and reproductive function in men. Sci Rep 7:17242.

Nagirnaja L, Vigh-Conrad K, Conrad D (2017) How to Map the Genetic Basis for Conditions that are Comorbid with Male Infertility. Semin Reprod Med 35:225–230.

Okutman O, Muller J, Skory V, et al (2017) A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family. J Assist Reprod Genet 34:683–694.

Oud MS, Ramos L, O’Bryan MK, et al (2017) Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. Hum Mutat 38:1592–1605.

Tarabay Y, Achour M, Teletin M, et al (2017) Tex19 paralogs are new members of the piRNA pathway controlling retrotransposon suppression. J Cell Sci 130:1463–1474.

Tournaye H, Krausz C, Oates RD (2017) Novel concepts in the aetiology of male reproductive impairment. Lancet Diabetes Endocrinol 5:544–553.


Anderson RE, Hanson HA, Patel DP, et al (2016) Cancer risk in first- and second-degree relatives of men with poor semen quality. Fertil Steril 106:731–738.

Borgmann J, Tüttelmann F, Dworniczak B, et al (2016) The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men. Hum Mol Genet 25:4898-4910.

Carrell DT, Aston KI, Oliva R, et al (2016) The “omics” of human male infertility: integrating big data in a systems biology approach. Cell Tissue Res 363:295–312.

ElInati E, Fossard C, Okutman O, et al (2016) A new mutation identified in SPATA16 in two globozoospermic patients. J Assist Reprod Genet 33:815–820.

Ghédir H, Ibala-Romdhane S, Okutman O, et al (2016) Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia. Mol Hum Reprod 22:35–45.

Jenkins TG, Aston KI, Meyer TD, et al (2016) Decreased fecundity and sperm DNA methylation patterns. Fertil Steril 105:51-57.e3.

Vaszkó T, Papp J, Krausz C, et al (2016) Discrimination of Deletion and Duplication Subtypes of the Deleted in Azoospermia Gene Family in the Context of Frequent Interloci Gene Conversion. PLoS One 11:e0163936.


Aston KI, Uren PJ, Jenkins TG, et al (2015) Aberrant sperm DNA methylation predicts male fertility status and embryo quality. Fertil Steril 104:1388-1397.e5.

Chianese C, Fino MG, Riera Escamilla A, et al (2015) Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia. Andrology 3:203–212.

Ho NRY, Huang N, Conrad DF (2015) Improved detection of disease-associated variation by sex-specific characterization and prediction of genes required for fertility. Andrology 3:1140–9.

Krausz C, Escamilla AR, Chianese C (2015) Genetics of male infertility: from research to clinic. REPRODUCTION 150:R159–R174.

Lim SL, Qu ZP, Kortschak RD, et al (2015) HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. PLOS Genet 11:e1005620.

Lima AC, Carvalho F, Gonçalves J, et al (2015) Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure. Andrology 3:825–33.

Liu Y, DeBoer K, de Kretser DM, et al (2015) LRGUK-1 Is Required for Basal Body and Manchette Function during Spermatogenesis and Male Fertility. PLOS Genet 11:e1005090.

Ni B, Lin Y, Sun L, et al (2015) Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men. Hum Mol Genet 24:5628–36.

Okutman O, Muller J, Baert Y, et al (2015) Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. Hum Mol Genet 24:5581–5588.

Yatsenko AN, Georgiadis AP, Röpke A, et al (2015) X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men. N Engl J Med 372:2097–2107.


ElInati E, Kuentz P, Redin C, et al (2012) Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet 21:3695–3702.

Krausz C, Giachini C, Lo Giacco D, et al (2012) High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males. PLoS One 7:e44887.

Krausz C, Sandoval J, Sayols S, et al (2012) Novel Insights into DNA Methylation Features in Spermatozoa: Stability and Peculiarities. PLoS One 7:e44479.

Lo JCY, Jamsai D, O’Connor AE, et al (2012) RAB-Like 2 Has an Essential Role in Male Fertility, Sperm Intra-Flagellar Transport, and Tail Assembly. PLoS Genet 8:e1002969.


Koscinski I, ElInati E, Fossard C, et al (2011) DPY19L2 Deletion as a Major Cause of Globozoospermia. Am J Hum Genet 88:344–350.

Tüttelmann F, Simoni M, Kliesch S, et al (2011) Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome. PLoS One 6:e19426.


van der Heijden GW, Castañeda J, Bortvin A (2010) Bodies of evidence-compartmentalization of the piRNA pathway in mouse fetal prospermatogonia. Curr Opin Cell Biol 22:752–757.


Aravin AA, van der Heijden GW, Castañeda J, et al (2009) Cytoplasmic Compartmentalization of the Fetal piRNA Pathway in Mice. PLoS Genet 5:e1000764.

Giachini C, Nuti F, Turner DJ, et al (2009) TSPY1 Copy Number Variation Influences Spermatogenesis and Shows Differences among Y Lineages. J Clin Endocrinol Metab 94:4016–4022.

Tyler-Smith C, Krausz C (2009) The Will-o’-the-Wisp of Genetics — Hunting for the Azoospermia Factor Gene. N Engl J Med 360:925–927.


Giachini C, Laface I, Guarducci E, et al (2008) Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum Genet 124:399–410.


Dam AHDM, Koscinski I, Kremer JAM, et al (2007) Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia. Am J Hum Genet 81:813–820.

van der Heijden GW, Derijck AAHA, Pósfai E, et al (2007) Chromosome-wide nucleosome replacement and H3.3 incorporation during mammalian meiotic sex chromosome inactivation. Nat Genet 39:251–258.


Krausz C, Degl’Innocenti S, Nuti F, et al (2006) Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum Mol Genet 15:2673–2681.