Specialties
Board Certification
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American Board of Bioanalysis
|
Board Certification and Academic Information
| Academic Departments |
Obstetrics & Gynecology
-Adjunct Associate Professor Surgery -Associate Professor |
|---|---|
| Academic Divisions |
Urology
|
| Board Certification |
American Board of Bioanalysis
|
Education history
| Undergraduate | Biology, minors in Chemistry and Spanish - Utah State University | |
|---|---|---|
| Undergraduate | Biology, minors in Chemistry and Spanish - Utah State University | B.S. |
| Doctoral Training | Animal Science: Reproductive Physiology - Utah State University | Ph.D. |
| Postdoctoral Fellowship | University of Utah, Andrology and IVF Laboratories | Postdoctoral Fellow |
Selected Publications
Journal Article
- Wyrwoll MJ, Temel ¿G, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türkgenç B, Ergören MC, Çetinkaya M, Ba'ar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N, GEMINI Consortium., Aston KI, Conrad DF, Veltman JA, Friedrich C, Tüttelmann (2020). Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. American journal of human genetics, 107(2), 342-351.
- Feng H, Jafek A, Samuel R, Hotaling J, Jenkins TG, Aston KI, Gale B (2021). High efficiency rare sperm separation from biopsy samples in an inertial focusing device. The Analyst, 146(10), 3368-3377.
- Ribas-Maynou J, Yeste M, Becerra-Tomás N, Aston KI, James ER, Salas-Huetos (2021). Clinical implications of sperm DNA damage in IVF and ICSI: updated systematic review and meta-analysis. Biological reviews of the Cambridge Philosophical Society, 96, 1284-1300.
- Houston BJ, Nagirnaja L, Merriner DJ, O'Connor AE, Okuda H, Omurtag K, Smith C, Aston KI, Conrad DF, O'Bryan M (2021). The Sertoli cell expressed gene secernin-1 (Scrn1) is dispensable for male fertility in the mouse. Developmental dynamics, 250(7), 922-931.
- Aston KI, Punj V, Liu L, Carrell D (2012). Genome-wide sperm deoxyribonucleic acid methylation is altered in some men with abnormal chromatin packaging or poor in vitro fertilization embryogenesis. Fertility and sterility, 97(2), 285-92.
- Patel DP, Jenkins TG, Aston KI, Guo J, Pastuszak AW, Hanson HA, Hotaling J (2020). Harnessing the full potential of reproductive genetics and epigenetics for male infertility in the era of "big data". Fertility and sterility, 113(3), 478-488.
- Santana VP, James ER, Miranda-Furtado CL, Souza MF, Pompeu CP, Esteves SC, Carrell DT, Aston KI, Jenkins TG, Reis RM (2020). Differential DNA methylation pattern and sperm quality in men with varicocele. Fertility and sterility, 114(4), 770-778.
- Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Wöste M, Hotaling JM, GEMINI Consortium., Nagirnaja L, Conrad DF, Carrell DT, Aston K (2021). Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Human genetics, 140(1), 217-227.
- Xavier MJ, Salas-Huetos A, Oud MS, Aston KI, Veltman J (2021). Disease gene discovery in male infertility: past, present and future. Human genetics, 140(1), 7-19.
- Aston KI, Carrell D (2009). Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. Journal of andrology, 30(6), 711-25.
- Aston KI, Krausz C, Laface I, Ruiz-Castane E, Carrell D (2010). Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Human reproduction (Oxford, England), 25(6), 1383-97.
- Aston KI, Hunt SC, Susser E, Kimura M, Factor-Litvak P, Carrell D, Aviv (2012). Divergence of sperm and leukocyte age-dependent telomere dynamics: implications for male-driven evolution of telomere length in humans. Molecular human reproduction, 18(11), 517-22.
- Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann (2020). Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. Genetics in medicine, 22(12), 1956-1966.
- Salas-Huetos A, Maghsoumi-Norouzabad L, James ER, Carrell DT, Aston KI, Jenkins TG, Becerra-Tomás N, Javid AZ, Abed R, Torres PJ, Luque EM, Ramírez ND, Martini AC, Salas-Salvadó (2021). Male adiposity, sperm parameters and reproductive hormones: An updated systematic review and collaborative meta-analysis. Obesity reviews, 22(1), e13082.
- Salas-Huetos A, James ER, Aston KI, Jenkins TG, Carrell D (2019). Diet and sperm quality: Nutrients, foods and dietary patterns. Reproductive biology, 19(3), 219-224.
- Murphy PJ, Guo J, Jenkins TG, James ER, Hoidal JR, Huecksteadt T, Broberg DS, Hotaling JM, Alonso DF, Carrell DT, Cairns BR, Aston K (2020). NRF2 loss recapitulates heritable impacts of paternal cigarette smoke exposure. PLoS genetics, 16(6), e1008756.
- Jenkins TG, James ER, Aston KI, Salas-Huetos A, Pastuszak AW, Smith KR, Hanson HA, Hotaling JM, Carrell D (2019). Age-associated sperm DNA methylation patterns do not directly persist trans-generationally. Epigenetics & chromatin, 12(1), 74.
- James ER, Carrell DT, Aston KI, Jenkins TG, Yeste M, Salas-Huetos (2020). The Role of the Epididymis and the Contribution of Epididymosomes to Mammalian Reproduction. International journal of molecular sciences, 21(15),
- Lee AS, Rusch J, Lima AC, Usmani A, Huang N, Lepamets M, Vigh-Conrad KA, Worthington RE, Mägi R, Wu X, Aston KI, Atkinson JP, Carrell DT, Hess RA, O'Bryan MK, Conrad D (2019). Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. Nature communications, 10(1), 4626.
- Salas-Huetos A, James ER, Broberg DS, Aston KI, Carrell DT, Jenkins T (2020). The combined effect of obesity and aging on human sperm DNA methylation signatures: inclusion of BMI in the paternal germ line age prediction model. Scientific reports, 10(1), 15409.
- Mangum CL, Patel DP, Jafek AR, Samuel R, Jenkins TG, Aston KI, Gale BK, Hotaling J (2020). Towards a better testicular sperm extraction: novel sperm sorting technologies for non-motile sperm extracted by microdissection TESE. Translational andrology and urology, 9(Suppl 2), S206-S214.
- Salas-Huetos A, Aston K (2021). Defining new genetic etiologies of male infertility: progress and future prospects. Translational andrology and urology, 10(3), 1486-1498.
- Aston K (2014). Genetic susceptibility to male infertility: news from genome-wide association studies. Andrology, 2(3), 315-21.
- Salas-Huetos A, James ER, Aston KI, Carrell DT, Jenkins TG, Yeste (2020). The role of miRNAs in male human reproduction: a systematic review. Andrology, 8(1), 7-26.
- Salas-Huetos A, James ER, Salas-Salvadó J, Bulló M, Aston KI, Carrell DT, Jenkins T (2021). Sperm DNA methylation changes after short-term nut supplementation in healthy men consuming a Western-style diet. Andrology, 9(1), 260-268.
- Salas-Huetos A, James ER, Aston KI, Jenkins TG, Carrell DT, Yeste (2019). The Expression of miRNAs in Human Ovaries, Oocytes, Extracellular Vesicles, and Early Embryos: A Systematic Review. Cells, 8(12),
- Verweij RM, Mills MC, Stulp G, Nolte IM, Barban N, Tropf FC, Carrell DT, Aston KI, Zondervan KT, Rahmioglu N, Dalgaard M, Skaarup C, Hayes MG, Dunaif A, Guo G, Snieder (2019). Using Polygenic Scores in Social Science Research: Unraveling Childlessness. Frontiers in sociology, 4, 74.
- Carrell DT, Aston K (2011). Sperm genetic testing: clinical implications and use. 30, 129-136.
- Mahyari E, Guo J, Lima AC, Lewinsohn DP, Stendahl AM, Vigh-Conrad KA, Nie X, Nagirnaja L, Rockweiler NB, Carrell DT, Hotaling JM, Aston KI, Conrad D (2021). Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome. American journal of human genetics, 108(10), 1924-1945.
- Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF, GEMINI Consortium ., Punab M, Laan (2022). Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management. Human reproduction (Oxford, England),
- Nie X, Munyoki SK, Sukhwani M, Schmid N, Missel A, Emery BR, DonorConnect, Stukenborg JB, Mayerhofer A, Orwig KE, Aston KI, Hotaling JM, Cairns BR, Guo (2022). Single-cell analysis of human testis aging and correlation with elevated body mass index. Developmental cell, 57(9), 1160-1176.e5.
- Kavoussi PK, Machen GL, Chen SH, Gilkey MS, Chen J, Hamzeh Y, Aston KI, Kavoussi S (2022). Direct conversion from long-acting testosterone replacement therapy to Natesto allows for spermatogenesis resumption: Proof of concept. Andrologia, e14453.
- Ramsay JM, Fendereski K, Horns JJ, VanDerslice JA, Hanson HA, Emery BR, Halpern JA, Aston KI, Ferlic E, Hotaling J (2023). Environmental exposure to industrial air pollution is associated with decreased male fertility. Fertility and sterility, 120(3 Pt 2), 637-647.
- Dicke AK, Pilatz A, Wyrwoll MJ, Punab M, Ruckert C, Nagirnaja L, Aston KI, Conrad DF, Di Persio S, Neuhaus N, Fietz D, Laan M, Stallmeyer B, Tüttelmann (2023). DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia. Communications biology, 6(1), 350.
- Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad D (2022). Diverse monogenic subforms of human spermatogenic failure. Nature communications, 13(1), 7953.
- Houston BJ, Lopes AM, Laan M, Nagirnaja L, O'Connor AE, Merriner DJ, Nguyen J, Punab M, Riera-Escamilla A, Krausz C, Aston KI, Conrad DF, O'Bryan M (2022). DDB1- and CUL4-associated factor 12-like protein 1 (Dcaf12l1) is not essential for male fertility in mice. Developmental biology, 490, 66-72.
- Patel DP, Cheng PJ, Hanson HA, Smith KR, Aston KI, Pastuszak AW, Hotaling J (2022). Seasonal variation in semen quality is not associated with fecundity in the Utah Population Database. Andrologia, 54(9), e14515.
- Garg D, Hodgman M, Reil S, Lomo L, Aston KI, Hill J, Johnstone E, Jenkins T, Letourneau J (2022). Effect of chemotherapy on the uterus of young adult cancer survivors. F&S reports, 3(3), 198-203.
- Cauchi LM, Houston BJ, Nagirnaja L, O'Connor AE, Merriner DJ, Aston KI, Schlegel PN, Conrad DF, Burke R, O'Bryan M (2022). Zinc finger RNA binding protein 2 (ZFR2) is not required for male fertility in the mouse. Developmental biology, 489, 55-61.
- Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E, GEMINI Consortium, Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz (2022). Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure. American journal of human genetics, 109(8), 1458-1471.
- Miranda Furtado CL, Hansen M, Kogure GS, Ribeiro VB, Taylor N, Racy Soares M, Ferriani RA, Aston KI, Jenkins T, Dos Reis R (2024). Resistance and aerobic training increases genome-wide DNA methylation in women with polycystic ovary syndrome. Epigenetics, 19(1), 2305082.
- Stirland I, Soares MR, Furtado CLM, Dos Reis RM, Aston KI, Smith RP, Jenkins T (2023). An assessment of alterations to human sperm methylation patterns in coronavirus disease 2019 infected and healthy control males. F&S science,
- Miller RH, DeVilbiss EA, Brogaard KR, Norton CR, Pollard CA, Emery BR, Aston KI, Hotaling JM, Jenkins T (2023). Epigenetic determinants of reproductive potential augment the predictive ability of the semen analysis. F&S science, 4(4), 279-285.
- de Sena Brandine G, Aston KI, Jenkins TG, Smith A (2023). Global effects of identity and aging on the human sperm methylome. Clinical epigenetics, 15(1), 127.
- Miller RH, Pollard CA, Brogaard KR, Olson AC, Barney RC, Lipshultz LI, Johnstone EB, Ibrahim YO, Hotaling JM, Schisterman EF, Mumford SL, Aston KI, Jenkins T (2023). Tissue-specific DNA methylation variability and its potential clinical value. Frontiers in genetics, 14, 1125967.
- Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan (2024). Toward clinical exomes in diagnostics and management of male infertility. American journal of human genetics, 111(5), 877-895.
- Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan (2024). Undiagnosed RASopathies in infertile men. Frontiers in endocrinology, 15, 1312357.
- Ramsay JM, Madsen MJ, Horns JJ, Hanson HA, Camp NJ, Emery BR, Aston KI, Ferlic E, Hotaling J (2024). Describing patterns of familial cancer risk in subfertile men using population pedigree data. Human reproduction (Oxford, England), 39(4), 822-833.
- Mahyari E, Vigh-Conrad KA, Daube C, Lima AC, Guo J, Carrell DT, Hotaling JM, Aston KI, Conrad D (2024). The human infertility single-cell testis atlas (HISTA): an interactive molecular scRNA-Seq reference of the human testis. Andrology,
- Zoch A, Konieczny G, Auchynnikava T, Stallmeyer B, Rotte N, Heep M, Berrens RV, Schito M, Kabayama Y, Schöpp T, Kliesch S, Houston B, Nagirnaja L, O'Bryan MK, Aston KI, Conrad DF, Rappsilber J, Allshire RC, Cook AG, Tüttelmann F, O'Carroll (2024). C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line. Molecular cell, 84(6), 1021-1035.e11.
- Mari¿ T, Castillo-Madeen H, Klari¿ ML, Bari'i¿ A, Trgovec-Greif L, Murphy MW, Juchnewitsch AG, Lillepea K, Dutta A, ¿uni¿ L, Stendahl AM, Punab M, Pomm K, Mendoza DM, Lopes AM, ¿orgi¿ AM, Vugrek O, Gonçalves J, Almstrup K, Aston KI, Belu'i¿ R, Je'ek D, Berto'a B, Laan M, Bojanac AK, Conrad DF, Barbali¿ (2025). Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility. Human molecular genetics, 34(6), 481-491.
- Allen-Brady K, Kodama S, Verrilli LE, Ramsay JM, Johnstone EB, Horns JJ, Emery BR, Cannon-Albright L, Aston KI, Hotaling JM, Welt C (2025). Azoospermia/Oligozoospermia and Prostate Cancer Are Increased in Families of Women With Primary Ovarian Insufficiency. Journal of the Endocrine Society, 9(4), bvaf030.
- Moore JL, Parks SJ, James ER, Aston KI, Jenkins T (2025). The impact of air pollution on sperm DNA methylation. Reproductive toxicology (Elmsford, N.Y.), 132, 108850.
- Wang C, Lue Y, Swerdloff RS, Morris D, Pak Y, Nguyen BT, Liu PY, Creinin MD, Surampudi P, Turok D, Aston KI, Anderson R, Reynolds-Wright J, Page ST, Amory JK, Dart C, Kroopnick JM, Lee MS, Sitruk Ware R, Blithe D (2025). Use of at-home sperm concentration testing in a male hormonal contraceptive efficacy clinical trial. Fertility and sterility, 123(3), 529-531.
- Moriwaki M, Liu L, James ER, Tolley ND, O'Connor AM, Emery B, Aston KI, Campbell RA, Welt C (2025). Heterozygous Eif4nif1 Stop-Gain Mice Replicate the Primary Ovarian Insufficiency Phenotype in Women. Endocrinology, 166(3),
- Langston DM, Fendereski K, Halpern JA, Iko IN, Aston KI, Emery BE, Ferlic EA, Ramsay JM, Horns JJ, Hotaling J (2024). Hispanic Ethnicity and Fertility Outcomes. Urology, 190, 25-31.
- Houston BJ, Nguyen J, Merriner DJ, O'Connor AE, Lopes AM, Nagirnaja L, Friedrich C, Kliesch S, Tüttelmann F, Aston KI, Conrad DF, Hobbs RM, Dunleavy JEM, O'Bryan M (2024). AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans. Cell death & disease, 15(7), 499.
- Houston BJ, Nguyen J, Merriner DJ, O'Connor AE, Lopes AM, Nagirnaja L, Friedrich C, Kliesch S, Tüttelmann F, Aston KI, Conrad DF, Hobbs RM, Dunleavy JE, O'Bryan M (2023). AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans. bioRxiv,
- Kavoussi SK, Chen SH, Farzaneh N, Farahi A, Mehrabani-Farsi R, Aston KI, Chen J, Kavoussi P (2024). Impact of follicle size before luteal progesterone supplementation on clinical outcomes of modified natural cycle single frozen embryo transfer. F&S reports, 6(1), 47-51.
- Baldwin-Brown JG, Wesolowski S, Zimmerman RM, Peterson B, Tristani-Firouzi M, Hernandez EH, Aston KI, Yandell M, Phadnis (2026). Signatures of sex ratio distortion in humans. bioRxiv,
- Shi J, Zhang X, Cai C, Liu S, Yu J, James ER, Liu L, Emery BR, McMurray Bires MR, Torres-Arce E, Rawal HC, Ramsay J, Kunisaki J, Zhou C, Milstone DS, Patti ME, Yang X, Jenkins TG, Quinlan A, Cairns BR, Schimmel P, Hotaling JM, Aston KI, Zhou T, Chen (2026). Conserved shifts in sperm small non-coding RNA profiles during mouse and human aging. The EMBO journal, 45(4), 1362-1380.
- Ramsay JM, Shonnard C, Hanson HA, Horns JJ, Emery BR, Aston KI, Stern JM, Hotaling J (2025). Risk of mortality in family members of men seeking fertility assessment. Fertility and sterility, 124(6), 1235-1244.
- Alley AW, Cooper LJ, Humphreys MA, Emery BR, Aston KI, Kastenberg ZJ, Luo MX, Hayes KG, Fair D, Mehrhoff C, Letourneau JM, Childress K (2025). Ex vivo oocyte retrieval for fertility preservation in an adolescent patient with recurrent ovarian dysgerminoma: a case report and review of the literature. F&S reports, 6(2), 208-215.
- Langston D.M (2025). Male Factor Infertility and the Rural-Urban Continuum. Urology, 197, 90-97.
- Schon S.B (2024). Proteomic analysis of human sperm reveals changes in protamine 1 phosphorylation in men with infertility. F&S science, 5(2), 121-129.
- Norton C (2024). Novel bioinformatic analyses of somatic cell contamination in sperm samples. Systems biology in reproductive medicine, 70(1), 174-182.
- Horns J.J (2023). The impact of socioeconomic status on bulk semen parameters, fertility treatment, and fertility outcomes in a cohort of subfertile men. Fertility and sterility, 120(1), 72-79.
- Miller R.H (2023). Tissue-specific DNA methylation variability and its potential clinical value. Frontiers in genetics, 14,
- Pollard C (2023). Detection of neuron-derived cfDNA in blood plasma: a new diagnostic approach for neurodegenerative conditions. Frontiers in neurology, 14,
- Cooper L.J (2022). Fertility preservation practices for female oncofertility differ significantly across the USA: results of a survey of SREI members. Journal of assisted reproduction and genetics, 39(8), 1749-1757.
- Barney R (2022). Assessment of seminal cell-free DNA as a potential contaminate in studies of human sperm DNA methylation. Andrology, 10(4), 702-709.
- Stalker K (2022). Tissue specific age acceleration patterns in the sperm of oligozoospermic men. Frontiers in reproductive health, 4,
- Jafek A (2020). An automated instrument for intrauterine insemination sperm preparation. Scientific reports, 10(1),
- Jafek A (2020). Optimization of Dean flow microfluidic chip for sperm preparation for intrauterine insemination. Microfluidics and nanofluidics, 24(8),
- Bridges N (2015). Male Factor Infertility and Clomiphene Citrate: A Meta-Analysis-The Effect of Clomiphene Citrate on Oligospermia. Urology practice, 2(4), 199-205.
- Aston K (2010). Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Human reproduction (Oxford, England), 25(6), 1383-1397.
- Woods G (2002). Cloned mule pregnancies produced using nuclear transfer. Theriogenology, 58(2-4), 779-782.
Review
- Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud M (2021). A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Human reproduction update, 28(1), 15-29.
- Wyrwoll MJ, van der Heijden GW, Krausz C, Aston KI, Kliesch S, McLachlan R, Ramos L, Conrad DF, O'Bryan MK, Veltman JA, Tüttelmann (2023). Improved phenotypic classification of male infertility to promote discovery of genetic causes. Nature reviews. Urology,
- Held M, Castillo-Madeen H, Vigh-Conrad KA, Aston KI, Conrad D (2025). Genetic and genomic insights into male reproductive tract development. Fertility and sterility,
- James ER, Tasnim M, Riera-Escamilla A, Vigh-Conrad K, Emery BR, Conrad DF, Aston K (2025). Genetic and epigenetic landscape of male infertility. Trends in genetics, 41(10), 883-898.
- Randell Z (2024). Sperm telomere length in male-factor infertility and reproduction. Fertility and sterility, 121(1), 12-25.
Book Chapter
- Aston KI, Conrad D (2013). A review of genome-wide approaches to study the genetic basis for spermatogenic defects. Methods in molecular biology (Clifton, N.J.), 927, 397-410.
- Carrell D.T (2020). The Potential of CRISPR/Cas Gene Editing to Correct Male Infertility. Genetics of Male Infertility A Case Based Guide for Clinicians, 347-367.
- Aston K (2010). Variability of human semen quality: Caution in interpreting semen analysis data. Paternal Influences on Human Reproductive Success, 174-182.
Conference Proceedings
- Bates J (2022). Polymer Interfaces with Small-Scale Biological Systems and the Impact on Sperm Viability. Minerals Metals and Materials Series, 783-795.
- Samuel R (2016). 40 cycle PCR using human genomic DNA in less than 1 minute on a microfluidic chip. 20th International Conference on Miniaturized Systems for Chemistry and Life Sciences Microtas 2016, 619-620.
Editorial
- Kunisaki J, Quinlan A, Aston KI, Hotaling (2022). Integrating Precision Medicine into the Standard of Care for Male Infertility: What Will it Take?. European urology, 82(4), 339-340.
- Laan M, Aston KI, Conrad D (2025). The rising role of genetics in andrology research and clinical practice. Andrology, 13(5), 983-985.
Letter
- Oud MS, Volozonoka L, Friedrich C, Kliesch S, Nagirnaja L, Gilissen C, O'Bryan MK, McLachlan RI, Aston KI, Tüttelmann F, Conrad DF, Veltman J (2021). Lack of evidence for a role of PIWIL1 variants in human male infertility. Cell, 184(8), 1941-1942.
Other
- Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Gonçalves J, Boyden SE, Wöste M, Hotaling JM, GEMINI Consortium., Nagirnaja L, Conrad DF, Carrell DT, Aston K (2021). Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Human genetics, 140(1), 229.
- Houston BJ, O'Connor AE, Wang D, Goodchild G, Merriner DJ, Luan H, Conrad DF, Nagirnaja L, Aston KI, Kliesch S, Wyrwoll MJ, Friedrich C, Tüttelmann F, Harrison C, O'Bryan MK, Walton (2022). Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice. Endocrinology, 163(3),
- Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E, Genetics of Male Infertility Initiative (GEMINI) consortium., Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman J (2022). A de novo paradigm for male infertility. Nature communications, 13(1), 154.
- Nagirnaja L, Mørup N, Nielsen JE, Stakaitis R, Golubickaite I, Oud MS, Winge SB, Carvalho F, Aston KI, Khani F, van der Heijden GW, Marques CJ, Skakkebaek NE, Rajpert-De Meyts E, Schlegel PN, Jørgensen N, Veltman JA, Lopes AM, Conrad DF, Almstrup (2021). Variant PNLDC1, Defective piRNA Processing, and Azoospermia. The New England journal of medicine, 385(8), 707-719.