Publications and patents of the Chair of Human Genetics

24.11.2021
#research

2024

  • 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 M. Undiagnosed RASopathies in infertile men. Front Endocrinol (Lausanne). 2024 Apr 9;15:1312357. doi: 10.3389/fendo.2024.1312357. eCollection 2024.
  • 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 M. Toward clinical exomes in diagnostics and management of male infertility. Am J Hum Genet. 2024 Apr 12:S0002-9297(24)00086-7. doi: 10.1016/j.ajhg.2024.03.013. Online ahead of print.
  • Khan MR, Akbari A, Nicholas TJ, Castillo-Madeen H, Ajmal M, Haq TU, Laan M, Quinlan AR, Ahuja JS, Shah AA, Conrad DF. Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP. Andrology. 2023 Dec 10. doi: 10.1111/andr.13570. Online ahead of print.
  • Ilves N, Metsvaht T, Laugesaar R, Rull K, Lintrop M, Laan M, Loorits D, Kool P, Ilves P. Periventricular hemorrhagic infarction in preterm neonates: Etiology and time of development. J Neonatal Perinatal Med. 2024;17(1):111-121. doi: 10.3233/NPM-230033.
  • Keaton JM et al, incl. Laan M. Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. Nat Genet. 2024 Apr 30. doi: 10.1038/s41588-024-01714-w. Online ahead of print.
  • Inno R, Laan M. Urinary microRNA profiling in pregnant women identifies placental microRNAs that are candidate biomarkers for monitoring placental health. FEBS Lett. 2023 Jul;597(14):1906-1917. doi: 10.1002/1873-3468.14681. Epub 2023 Jun 19.
  • 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 F. DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia. Commun Biol. 2023 Mar 31;6(1):350. doi: 10.1038/s42003-023-04714-4.
  • Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M. Microdeletions and microduplications linked to severe congenital disorders in infertile men. Sci Rep. 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w
  • Kasak L, Rull K, Laan M. Genetics and Genomics of Recurrent Pregnancy Loss. In: Peter Leung, Jie Qiao (Ed.). Human Reproductive and Prenatal Genetics (2nd Edition). 2023 April 03; pp. 565−598. Academic Press Inc Elsevier Science
  • 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 DF. Diverse monogenic subforms of human spermatogenic failure. Nat Commun. 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z.
  • Hanson E, Ringmets I, Kirss A, Laan M, Rull K. Screening of Gestational Diabetes and Its Risk Factors: Pregnancy Outcome of Women with Gestational Diabetes Risk Factors According to Glycose Tolerance Test Results. J Clin Med. 2022 Aug 23;11(17):4953. doi: 10.3390/jcm11174953.
  • Ratnik K, Rull K, Aasmets O, Kikas T, Hanson E, Kisand K, Fischer K, Laan M. Novel Early Pregnancy Multimarker Screening Test for Preeclampsia Risk Prediction. Front Cardiovasc Med. 2022 Jul 27;9:932480. doi: 10.3389/fcvm.2022.932480. eCollection 2022.
  • 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 MK. DDB1- and CUL4-associated factor 12-like protein 1 (Dcaf12l1) is not essential for male fertility in mice. Dev Biol. 2022 Oct;490:66-72. doi: 10.1016/j.ydbio.2022.07.006. Epub 2022 Jul 15.
  • Ilves N, Laugesaar R, Rull K, Metsvaht T, Lintrop M, Laan M, Loorits D, Kool P, Ilves P. Maternal Pyelonephritis as a Potential Cause of Perinatal Periventricular Venous Infarction in Term-Born Children. J Child Neurol. 2022 Aug;37(8-9):677-688. doi: 10.1177/08830738221109340. Epub 2022 Jul 12.
  • Hanson E, Rull K, Ratnik K, Vaas P, Teesalu P, Laan M. Value of soluble fms-like tyrosine kinase-1/placental growth factor test in third trimester of pregnancy for predicting preeclampsia in asymptomatic women. J Perinat Med. 2022 May 13;50(7):939-946. doi: 10.1515/jpm-2022-0127. Print 2022 Sep 27.
  • 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 M.  Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management. Hum Reprod. 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100.
  • Laan M, Kasak L, Punab M. Translational aspects of novel findings in genetics of male infertility-status quo 2021. Br Med Bull. 2021 Dec 16;140(1):5-22. doi: 10.1093/bmb/ldab025.
  • Hardy JJ, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, Brieño-Enríquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN; GEMINI Consortium (2021) Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. Human Genetics, 140(8), 1169–1182. doi: 10.1007/s00439-021-02287-y.
  • 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 KI (2021) Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Human Genetics, 140(1), 217–227. doi: 10.1007/s00439-020-02236-1. [GEMINI consortium authorship]
  • Kasak, Laura; Rull, Kristiina; Yang, Tao; Roden, Dan M; Laan, Maris (2021) Recurrent Pregnancy Loss and Concealed Long-QT Syndrome. Journal of the American Heart Association 10:e021236. DOI: 10.1161/JAHA.121.021236
  • Kikas, Triin; Laan, Maris; Kasak, Laura (2021). Current knowledge on genetic variants shaping placental transcriptome and their link to gestational and postnatal health. Placenta S0143-4004(21)00052-7. DOI: 10.1016/j.placenta.2021.02.009 [ilmumas].
  • Inno, Rain; Kikas, Triin; Lillepea, Kristiina; Laan, Maris (2021). Coordinated Expressional Landscape of the Human Placental miRNome and Transcriptome. Frontiers in Cell and Developmental Biology, 9 (697947), 1−20. DOI: 10.3389/fcell.2021.697947.
  • Kasak, Laura; Laan, Maris (2021). Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives. Human Genetics, 140 (1), 135−154. DOI: 10.1007/s00439-020-02112-y.
  • Laan, Maris; Kasak, Laura; Timinskas, Kęstutis; Grigorova, Marina; Venclovas, Česlovas; Renaux, Alexandre; Lenaerts, Tom; Punab, Margus (2021). NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance. Clinical Endocrinology, 94 (4), 656−666. DOI: 10.1111/cen.14381.
  • Hallast, Pille; Kibena, Laura; Punab, Margus; Arciero, Elena; Rootsi, Siiri; Grigorova, Marina; Flores, Rodrigo; Jobling, Mark A; Poolamets, Olev; Pomm, Kristjan; Korrovits, Paul; Rull, Kristiina; Xue, Yali; Tyler-Smith, Chris; Laan, Maris (2021). A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans. eLife, 10, e65420. DOI: 10.7554/eLife.65420.
  • Dzaparidze G, Anion E, Laan M, Minajeva A (2020) The decline of FANCM immunohistochemical expression in prostate cancer stroma correlates with the grade group. Pathology International 70(8), 542-550. doi: 10.1111/pin.12953.
  • Ratnik, Kaspar; Rull, Kristiina; Hanson, Ele; Kisand, Kalle; Laan, Maris (2020). Single-Tube Multimarker Assay for Estimating the Risk to Develop Preeclampsia. The Journal of Applied Laboratory Medicine, 5 (6), 1156−1171. DOI: 10.1093/jalm/jfaa054.
  • Kikas, Triin; Inno, Rain; Ratnik, Kaspar; Rull, Kristiina; Laan, Maris (2020). C-allele of rs4769613 Near FLT1 Represents a High-Confidence Placental Risk Factor for Preeclampsia. Hypertension, 76 (3), 884−891. DOI: 10.1161/HYPERTENSIONAHA.120.15346.
     
  • Patentne leiutis (Tartu Ülikool): METHOD OF PROGNOSING PREECLAMPSIA; Omanikud: Tartu Ülikool, Meditsiiniteaduste valdkond, bio- ja siirdemeditsiini instituut; Autorid: Maris Laan, Kaspar Ratnik, Kristiina Rull, Kalle Kisand, Ele Hanson; Prioriteedi number: GB2012830.2; Prioriteedi kuupäev: 17.08.2020.
  • Shi W, Louzada S, Grigorova M, Massaia A, Arciero E, Kibena L, Ge XJ, Chen Y, Ayub Q, Poolamets O, Tyler-Smith C, Punab M, Laan M, Yang F, Hallast P, Xue Y (2019) Evolutionary and functional analysis of RBMY1 gene copy number variation on the human Y chromosome. Human Molecular Genetics 28(16), 2785-2798. doi: 10.1093/hmg/ddz101.
  • Kikas, Triin; Rull, Kristiina; Beaumont, Robin N.; Freathy, Rachel M.; Laan, Maris (2019). The Effect of Genetic Variation on the Placental Transcriptome in Humans. Frontiers in Genetics, 10 (550), 1−16. DOI: 10.3389/fgene.2019.00550.
  • Pilvar, Diana; Reiman, Mario; Pilvar, Arno; Laan, Maris (2019). Parent-of-origin-specific allelic expression in the human placenta is limited to established imprinted loci and it is stably maintained across pregnancy. Clinical Epigenetics, 11 (94), 1−14. DOI: 10.1186/s13148-019-0692-3.
  • Laan, Maris. (2019). Systematic review of the monogenetic causes of male infertility: the first step towards diagnostic gene panels in the andrology clinic. Human Reproduction, 34 (5), 783−785. DOI: 10.1093/humrep/dez024.
  • Kasak, Laura; Rull, Kristiina; Laan, Maris. (2019). Genetics and Genomics of Recurrent Pregnancy Loss. In: Peter Leung, Jie Qiao (Ed.). Human Reproductive and Prenatal Genetics (1st Edition) (463−494). Academic Press Inc Elsevier Science. DOI: 10.1016/B978-0-12-813570-9.00021-8.
     
  • Patentne leiutis (Tartu Ülikool): METHOD OF PROGNOSING AND DIAGNOSING PREECLAMPSIA; Omanikud: Tartu Ülikool, Meditsiiniteaduste valdkond, bio- ja siirdemeditsiini instituut; Autorid: Maris Laan, Kaspar Ratnik, Kristiina Rull, Kalle Kisand, Ele Hanson; Prioriteedi number: GB1910133.6; Prioriteedi kuupäev: 15.07.2019.
  • Evangelou E, … Laan M, …, Munroe PB, Newton-Cheh C, Brown MJ, Metspalu A, Hung AM, O'Donnell CJ, Edwards TL, Psaty BM, Tzoulaki I, Barnes MR, Wain LV, Elliott P, Caulfield MJ; Million Veteran Program. Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) Nature Genetics 50(10):1412-1425. doi: 10.1038/s41588-018-0205-x.
  • Rull, Kristiina; Grigorova, Marina; Ehrenberg, Aivar; Vaas, Pille; Sekavin, Aire; Nõmmemees, Diana; Adler, Mart; Hanson, Ele; Juhanson, Peeter; Laan, Maris. (2018). FSHB −211 G>T is a major genetic modulator of reproductive physiology and health in childbearing age women. Human Reproduction, 33 (5), 954−966. DOI: 10.1093/humrep/dey057.
  • Kasak, Laura; Punab, Margus; Nagirnaja, Liina; Grigorova, Marina; Minajeva, Ave; Lopes, Alexandra M.; Punab, Anna Maria; Aston, Kenneth I.; Carvalho, Filipa; Laasik, Eve; Smith, Lee B.; GEMINI Consortium; Conrad, Donald F.; Laan, Maris (2018). Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. The American Journal of Human Genetics, 103 (2), 200−212. DOI: 10.1016/j.ajhg.2018.07.005.
  • Wain LV, …, Laan M, …, Levy D, Tobin MD, Snieder H, Caulfield MJ, Ehret GB (2017) Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension 70(3), 70:e4–e19. doi: 10.1161/HYPERTENSIONAHA.117.09438.
  • Warren HR, …, Munroe PB, Ehret GB, Wain LV; International Consortium of Blood Pressure (ICBP) 1000G Analyses; BIOS Consortium; Lifelines Cohort Study; Understanding Society Scientific group; CHD Exome+ Consortium; ExomeBP Consortium; T2D-GENES Consortium; GoT2DGenes Consortium; Cohorts for Heart and Ageing Research in Genome Epidemiology (CHARGE) BP Exome Consortium; International Genomics of Blood Pressure (iGEN-BP) Consortium; UK Biobank CardioMetabolic Consortium BP working group (2017) Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. Nature Genetics 49(3), 403-415. doi: 10.1038/ng.3768. [ICBP consortium authorship]
  • Punab, Margus; Poolamets, Olev; Paju, Piia; Vihljajev, Vladimir; Pomm, Kristjan; Ladva, Ruth; Korrovits, Paul; Laan, Maris (2017). Causes of male infertility: a 9-year prospective monocentre study on 1737 patients with reduced total sperm counts. Human Reproduction, 32 (1), 18−31. DOI: 10.1093/humrep/dew284.
  • Kasak, Laura; Rull, Kristiina; Sober, Siim; Laan, Maris (2017). Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families. Scientific Reports, 7, ARTN 45327. DOI: 10.1038/srep45327.
  • Grigorova, Marina; Punab, Margus; Kahre, Tiina; Ivandi, Mare; Tõnisson, Neeme; Poolamets, Olev; Vihljajev, Vladimir; Žilaitienė, Birutė; Erenpreiss, Juris; Matulevičius, Valentinas; Laan, Maris (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. DOI: 10.1111/andr.12344.
  • Grigorova, Marina; Punab, Margus; Poolamets, Olev; Adler,Mart; Vihljajev, Vladimir; Laan, Maris (2017). Genetics of Sex Hormone-Binding Globulin and Testosterone Levels in Fertile and Infertile Men of Reproductive Age. Journal of the Endocrine Society, 1 (6), 560−576. DOI: 10.1210/js.2017-00050.
  • Reiman, Mario; Laan, Maris; Rull, Kristiina; Sõber, Siim (2017). Effects of RNA integrity on transcript quantification by total RNA sequencing of clinically collected human placental samples. The FASEB Journal, 31 (8), 3298−3308. DOI: 10.1096/fj.201601031rr.
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