University OF TARTU
Member Details

Maris Laan, PhD
Professor of Human Genetics
Vice-Dean for Research
Faculty of Medicine
University of Tartu

Ravila 19 50411

Telephone: +372 5349 52 58
University URL:

Team Members

Univerity of Tartu and Tartu University Hospital

  • Margus Punab – Professor of Andrology and Clinical Scientist
  • Kristjan Pomm – Director Andrology Clinic, Tartu University Hospital
  • Laura Kasak – Postdoctoral Scientist
  • Rain Inno – Postdoctoral Scientist
  • Triin Kikas – Postdoctoral Scientist
  • Avirup Dutta – Bioinformatics Scientist
  • Kristiina Lillepea – Junior researcher, PhD student
  • Anna-Grete Juchnewitsch – Junior researcher, PhD student
  • Anu Valkna – Junior researcher, PhD student and General Practitioner
  • Erik Tamp – Pathologist, PhD student
  • Stanislav Tjagur – Andrologist, Clinical Postdoctoral Scientist
  • Kristel Ehala-Aleksejev – Clinical Postdoctoral Scientist


Improvement of and setting standards for clinical phenotyping, building structures to collect well-phenotyped patient groups, e.g. based on testicular histology.

The genomics and bioinformatics working group will focus on setting standards for performing, analyzing and sharing data from genomics studies.

Member Description

Androgenetics team comprised of the Chair of Human Genetics, University of Tartu and Andrology Clinic, Tartu University Hospital has collaborated nearly 20 years. Our scientific ‘keywords’ are medical and reproductive genetics; genetics and molecular etiology of infertility, gonadal dysgenesis, and pregnancy complications to be investigated by advanced DNA and RNA sequencing tools; uncovering the spectrum of genotype-phenotype links in reproductive disorders; translational research and added clinical value of novel genetic discoveries.


Juchnewitsch AG, et al. (2024) Undiagnosed RASopathies in infertile men. Front. Endocrinol. 15:1312357.

Lillepea K, et al. (2024) Toward clinical exomes in diagnostics and management of male infertility.Am J Hum Genet 111(5):877-895.

Khan MR, et al. (2023) Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP. Andrology.

Dicke AK, et al. (2023) DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia. Commun Biol 6(1):350.

Kikas T, et al. (2023) Microdeletions and microduplications linked to severe congenital disorders in infertile men.Sci Rep 13(1):574.

Nagirnaja L, et al. (2022) Diverse monogenic subforms of human spermatogenic failure.Nat Commun. 13(1):7953.

Houston BJ, et al. (2022) DDB1- and CUL4-associated factor 12-like protein 1 (Dcaf12l1) is not essential for male fertility in mice.Dev Biol 490:66-72.

Kasak L, et al. (2022) Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.Hum Reprod 37(7):1652-1663.

Laan M, Kasak L, Punab M. (2022) Translational aspects of novel findings in genetics of male infertility-status quo 2021.Br Med Bull 140(1):5-22.

Hardy JJ, et al. (2021) Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.Hum Genet 140(8):1169-1182.

Hallast P, et al. (2021) A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans.Elife 10:e65420.

Laan M, et al. (2021) NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.Clin Endocrinol 94(4):656-666.

Dzaparidze G, et al. (2021) The decline of FANCM immunohistochemical expression in prostate cancer stroma correlates with the grade group.Pathol Int 70(8):542-550.

Kasak L, Laan M. (2021) Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.Hum Genet 140(1):135-154.

Shi W, et al. (2019) Evolutionary and functional analysis of RBMY1 gene copy number variation on the human Y chromosome.Hum Mol Genet 28(16):2785-2798.

Kasak L, et al. (2018) Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.Am J Hum Genet 103(2):200-212.

Grigorova M, et al. (2017) Genetics of Sex Hormone-Binding Globulin and Testosterone Levels in Fertile and Infertile Men of Reproductive Age.J Endocr Soc 1(6):560-576.

Grigorova M, et al. (2017) The number of CAG and GGN triplet repeats in the Androgen Receptor gene exert combinatorial effect on hormonal and sperm parameters in young men.Andrology 5(3):495-504.

Punab AM, et al. (2015) Carriers of variant luteinizing hormone (V-LH) among 1593 Baltic men have significantly higher serum LH. .

Grigorova M, et al. (2014) Reproductive physiology in young men is cumulatively affected by FSH-action modulating genetic variants: FSHR -29G/A and c.2039 A/G, FSHB -211G/T.Andrology 3(3):512-9.

Grigorova M, et al. (2013) Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume.Andrology 1(2):293-300.

Tüttelmann F, et al. (2012) Combined effects of the variants FSHB -211G>T and FSHR 2039A>G on male reproductive parameters.J Clin Endocrinol Metab 97(10):3639-47.

Laan M, Grigorova M, Huhtaniemi IT (2012) Pharmacogenetics of follicle-stimulating hormone action. Curr Opin Endocrinol Diabetes Obes 19(3):220-7.

Grigorova M, et al. (2011) Genetically determined dosage of follicle-stimulating hormone (FSH) affects male reproductive parameters.J Clin Endocrinol Metab 96(9):E1534-41.

Grigorova M, et al. (2010) Increased Prevalance of the -211 T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum FSH in infertile men.J Clin Endocrinol Metab 95(1):100-8.

Grigorova M, et al. (2008) FSHB promoter polymorphism within evolutionary conserved element is associated with serum FSH level in men.Hum Reprod 23(9):2160-6.


Estonian Research Council