| 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 | 124 | 2019 |
| 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 | 49 | 2018 |
| 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 | 36 | 2017 |
| 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 | 33 | 2021 |
| 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 | 31 | 2022 |
| 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 | 28 | 2020 |
| 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 | 21 | 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 | 12 | 2021 |
| 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 | 10 | 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 | 9 | 2021 |
| 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 | 7 | 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, 970, 2021 | 5 | 2021 |
| A de novo paradigm for male infertility MS Oud, RM Smits, HE Smith, FK Mastrorosa, GS Holt, BJ Houston, ... Nature communications 13 (1), 1-10, 2022 | 4 | 2022 |
| Diverse Monogenic Subforms of Human Spermatogenic Failure L Nagirnaja, AM Lopes, WL Charng, B Miller, R Stakaitis, I Golubickaite, ... medRxiv, 2022 | 3 | 2022 |
| 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 | 3 | 2019 |
| Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development BJ Houston, MS Oud, DM Aguirre, DJ Merriner, AE O’Connor, O Okutman, ... G3: Genes, Genomes, Genetics 10 (12), 4449-4457, 2020 | 2 | 2020 |
| Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility MJ Wyrwoll, ŞG Temel, L Nagirnaja, MS Oud, AM Lopes, ... bioRxiv, 803346, 2019 | 1 | 2019 |
| 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, 2022 | | 2022 |
| Are children born after medical assisted reproduction at greater risk of having an increased de novo mutation rate? RM Smits, MS Oud, AM Meijerink, P De Vries, GS Holt, BKS Alobaidi, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 98-99, 2022 | | 2022 |
| FKBP6 has an essential role in human spermatogenesis GW Van der Heijden, M Oud, R Stakaitis, I Golubickaite, C Gaasbeek, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 100-100, 2022 | | 2022 |
