| 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 |
| Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives L Kasak, M Laan Human genetics 140 (1), 135-154, 2021 | 89 | 2021 |
| 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 | 53 | 2014 |
| Extensive load of somatic CNVs in the human placenta L Kasak, K Rull, P Vaas, P Teesalu, M Laan Scientific reports 5 (1), 8342, 2015 | 43 | 2015 |
| Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families L Kasak, K Rull, S Sõber, M Laan Scientific reports 7 (1), 45327, 2017 | 34 | 2017 |
| 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 |
| 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 |
| Translational aspects of novel findings in genetics of male infertility—status quo 2021 M Laan, L Kasak, M Punab British Medical Bulletin 140 (1), 5-22, 2021 | 15 | 2021 |
| NR5A1 c.991‐1G > C splice‐site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance M Laan, L Kasak, K Timinskas, M Grigorova, Č Venclovas, A Renaux, ... Clinical endocrinology 94 (4), 656-666, 2021 | 15 | 2021 |
| Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016 WT Clark, L Kasak, C Bakolitsa, Z Hu, G Andreoletti, G Babbi, Y Bromberg, ... Human mutation 40 (9), 1519-1529, 2019 | 14 | 2019 |
| Genome structural variation modulating the placenta and pregnancy maintenance L Kasak Tartu, 2018 | 13 | 2018 |
| Genetics and genomics of recurrent pregnancy loss L Kasak, K Rull, M Laan Human reproductive and prenatal genetics, 565-598, 2023 | 12 | 2023 |
| CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases L Kasak, JM Hunter, R Udani, C Bakolitsa, Z Hu, AN Adhikari, G Babbi, ... Human Mutation 40 (9), 1373-1391, 2019 | 11 | 2019 |
| Current knowledge on genetic variants shaping placental transcriptome and their link to gestational and postnatal health T Kikas, M Laan, L Kasak Placenta 116, 2-11, 2021 | 8 | 2021 |
| Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants L Kasak, C Bakolitsa, Z Hu, C Yu, J Rine, DF Dimster‐Denk, G Pandey, ... Human mutation 40 (9), 1530-1545, 2019 | 7 | 2019 |
| Role of DNA copy number variations in genetic predisposition to recurrent pregnancy loss L Nagirnaja, L Kasak, P Palta, K Rull, OB Christiansen, T Esko, M Remm, ... Journal of Reproductive Immunology 2 (90), 145, 2011 | 7 | 2011 |
| Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management L Kasak, K Lillepea, L Nagirnaja, KI Aston, PN Schlegel, J Goncalves, ... Human Reproduction 37 (7), 1652-1663, 2022 | 5 | 2022 |
| Diverse monogenic subforms of human spermatogenic failure. Nat. Commun. 13, 7953 L Nagirnaja, AM Lopes, WL Charng, B Miller, R Stakaitis, I Golubickaite, ... | 5 | 2022 |
| Recurrent Pregnancy Loss and Concealed Long‐QT Syndrome L Kasak, K Rull, T Yang, DM Roden, M Laan Journal of the American Heart Association 10 (17), e021236, 2021 | 4 | 2021 |
| CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods N Null, S Jain, C Bakolitsa, SE Brenner, P Radivojac, J Moult, S Repo, ... Genome Biology 25 (1), 1-46, 2024 | 2 | 2024 |
