| Genetics of recurrent miscarriage: challenges, current knowledge, future directions K Rull, L Nagirnaja, M Laan Frontiers in genetics 3, 34, 2012 | 224 | 2012 |
| A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships BJ Houston, A Riera-Escamilla, MJ Wyrwoll, A Salas-Huetos, MJ Xavier, ... Human reproduction update 28 (1), 15-29, 2022 | 158 | 2022 |
| Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia L Kasak, M Punab, L Nagirnaja, M Grigorova, A Minajeva, AM Lopes, ... The American Journal of Human Genetics 103 (2), 200-212, 2018 | 110 | 2018 |
| Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men C Krausz, A Riera-Escamilla, D Moreno-Mendoza, K Holleman, F Cioppi, ... Genetics in Medicine 22 (12), 1956-1966, 2020 | 104 | 2020 |
| Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin β gene cluster P Hallast, L Nagirnaja, T Margus, M Laan Genome research 15 (11), 1535-1546, 2005 | 83 | 2005 |
| Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci L Nagirnaja, K Rull, L Uusküla, P Hallast, M Grigorova, M Laan Molecular and cellular endocrinology 329 (1-2), 4-16, 2010 | 82 | 2010 |
| Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility MJ Wyrwoll, ŞG Temel, L Nagirnaja, MS Oud, AM Lopes, ... The American Journal of Human Genetics 107 (2), 342-351, 2020 | 72 | 2020 |
| Genetic intersection of male infertility and cancer L Nagirnaja, KI Aston, DF Conrad Fertility and sterility 109 (1), 20-26, 2018 | 65 | 2018 |
| Variant PNLDC1, Defective piRNA Processing, and Azoospermia L Nagirnaja, N Mørup, JE Nielsen, R Stakaitis, I Golubickaite, MS Oud, ... New England Journal of Medicine 385 (8), 707-719, 2021 | 61 | 2021 |
| Chorionic gonadotropin β-gene variants are associated with recurrent miscarriage in two European populations K Rull, L Nagirnaja, VM Ulander, P Kelgo, T Margus, M Kaare, ... The Journal of Clinical Endocrinology & Metabolism 93 (12), 4697-4706, 2008 | 55 | 2008 |
| Structural genomic variation as risk factor for idiopathic recurrent miscarriage L Nagirnaja, P Palta, L Kasak, K Rull, OB Christiansen, HS Nielsen, ... Human mutation 35 (8), 972-982, 2014 | 54 | 2014 |
| A de novo paradigm for male infertility MS Oud, RM Smits, HE Smith, FK Mastrorosa, GS Holt, BJ Houston, ... Nature communications 13 (1), 154, 2022 | 47 | 2022 |
| Methylation Allelic Polymorphism (MAP) in Chorionic Gonadotropin β5 (CGB5) and Its Association with Pregnancy Success L Uusküla, K Rull, L Nagirnaja, M Laan The Journal of Clinical Endocrinology & Metabolism 96 (1), E199-E207, 2011 | 46 | 2011 |
| Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia A Salas-Huetos, F Tüttelmann, MJ Wyrwoll, S Kliesch, AM Lopes, ... Human genetics 140, 217-227, 2021 | 37 | 2021 |
| Structural and functional analysis of rare missense mutations in human chorionic gonadotrophin β-subunit L Nagirnaja, Č Venclovas, K Rull, KC Jonas, H Peltoketo, ... Molecular human reproduction 18 (8), 379-390, 2012 | 36 | 2012 |
| Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome E Mahyari, J Guo, AC Lima, DP Lewinsohn, AM Stendahl, ... The American Journal of Human Genetics 108 (10), 1924-1945, 2021 | 33 | 2021 |
| Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure JJ Hardy, MJ Wyrwoll, W Mcfadden, A Malcher, N Rotte, NC Pollock, ... Human genetics 140 (8), 1169-1182, 2021 | 32 | 2021 |
| Global and fine-scale genetic determinants of recurrent pregnancy loss L Nagirnaja Tartu, 2014 | 30 | 2014 |
| Diverse monogenic subforms of human spermatogenic failure L Nagirnaja, AM Lopes, WL Charng, B Miller, R Stakaitis, I Golubickaite, ... Nature communications 13 (1), 7953, 2022 | 28 | 2022 |
| A modest but significant effect of CGB5 gene promoter polymorphisms in modulating the risk of recurrent miscarriage K Rull, OB Christiansen, L Nagirnaja, R Steffensen, T Margus, M Laan Fertility and sterility 99 (7), 1930-1936. e6, 2013 | 25 | 2013 |
