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Specialties
Board Certification
American Board of Bioanalysis -
Board Certification and Academic Information
Academic Departments Surgery -Associate Professor
Obstetrics & Gynecology -Adjunct Associate Professor
Academic Divisions Urology
Board Certification American Board of BioanalysisEducation 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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), (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- Aston K (2014). Genetic susceptibility to male infertility: news from genome-wide association studies. Andrology, 2(3), 315-21. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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), (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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), (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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, (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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, (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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), (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)
- 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, (Read full publication)
- 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. (Read full publication)
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. (Read full publication)
- 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, (Read full publication)
- 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, (Read full publication)
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. (Read full publication)
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. (Read full publication)
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. (Read full publication)
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. (Read full publication)
- 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), (Read full publication)
- 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. (Read full publication)
- 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. (Read full publication)