A systematic review and standardized clinical validity assessment of male infertility genes MS Oud, L Volozonoka, RM Smits, LELM Vissers, L Ramos, JA Veltman Human Reproduction 34 (5), 932–941, 2019 | 190 | 2019 |
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 | 176 | 2022 |
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease G Nicolas, R Acuña‐Hidalgo, MJ Keogh, O Quenez, M Steehouwer, ... Alzheimer's & Dementia 14 (12), 1632-1639, 2018 | 89 | 2018 |
Disease gene discovery in male infertility: past, present and future MJ Xavier, A Salas-Huetos, MS Oud, KI Aston, JA Veltman Human Genetics 140 (1), 7-19, 2021 | 79 | 2021 |
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 | 76 | 2020 |
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 | 75 | 2021 |
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 | 62 | 2022 |
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia MS Oud, L Ramos, MK O'Bryan, RI McLachlan, Ö Okutman, S Viville, ... Human Mutation 38 (11), 1592-1605, 2017 | 52 | 2017 |
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia MS Oud, Ö Okutman, LAJ Hendricks, PF De Vries, BJ Houston, L Vissers, ... Human reproduction 35 (1), 240-252, 2020 | 49 | 2020 |
Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders MS Oud, BJ Houston, L Volozonoka, FK Mastrorosa, GS Holt, ... Human Reproduction 36 (9), 2597-2611, 2021 | 42 | 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 | 41 | 2022 |
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 |
TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility LA Torres-Fernández, J Emich, Y Port, S Mitschka, M Wöste, S Schneider, ... Frontiers in Cell and Developmental Biology 9, 658966, 2021 | 20 | 2021 |
De novo mutations in children born after medical assisted reproduction RM Smits, MJ Xavier, MS Oud, GDN Astuti, AM Meijerink, PF de Vries, ... Human Reproduction 37 (6), 1360-1369, 2022 | 18 | 2022 |
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure A Riera-Escamilla, M Vockel, L Nagirnaja, MJ Xavier, A Carbonell, ... The American Journal of Human Genetics 109 (8), 1458-1471, 2022 | 16 | 2022 |
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans MJ Wyrwoll, CM Gaasbeek, I Golubickaite, R Stakaitis, MS Oud, ... The American Journal of Human Genetics 109 (10), 1850-1866, 2022 | 10 | 2022 |
Lack of evidence for a role of PIWIL1 variants in human male infertility MS Oud, L Volozonoka, C Friedrich, S Kliesch, L Nagirnaja, C Gilissen, ... Cell 184 (8), 1941-1942, 2021 | 10 | 2021 |
Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility J Emich, AS Gaikwad, B Stallmeyer, D Fietz, HC Schuppe, MS Oud, ... Fertility and Sterility 119 (2), 219-228, 2023 | 5 | 2023 |
Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series RM Smits, MS Oud, LELM Vissers, D Lugtenberg, DDM Braat, K Fleischer, ... Reproductive biomedicine online 39 (6), 963-968, 2019 | 5 | 2019 |
Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos KJ Westerich, S Reinecke, J Emich, MJ Wyrwoll, B Stallmeyer, M Meyer, ... Human Reproduction 38 (4), 655-670, 2023 | 4 | 2023 |