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Author

Manon S. Oud

Observed names: M S Oud, M. S. Oud, M.S. Oud, Manon Oud, Manon S Oud, Oud, M., Oud, M. S., Oud, M.S.
Institutions: Radboud University Nijmegen, Radboud University Medical Center, Institut d'Investigació Biomédica de Bellvitge, Institut Català d'Oncologia, Centro de Investigación Biomédica en Red de Cáncer, Donders Institute for Brain, Cognition and Behaviour
Observed institutions: Oregon National Primate Research Center, University of Copenhagen, Lithuanian University of Health Sciences, Radboud University Nijmegen, Oregon Health & Science University, Radboud University Medical Center, Institut d'Investigació Biomédica de Bellvitge, Institut Català d'Oncologia, Centro de Investigación Biomédica en Red de Cáncer, Donders Institute for Brain, Cognition and Behaviour
ORCID: 0000-0001-9513-3030
Observed ORCID: 0000-0001-9513-3030
OpenAlex ID: A5079740224
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships
2021 · Brendan J Houston, Antoni Riera-Escamilla, et al. · Human Reproduction Update · 311
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A systematic review and standardized clinical validity assessment of male infertility genes
2019 · Manon S Oud, Ludmila Volozonoka, et al. · Human Reproduction · 211
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Variant PNLDC1 , Defective piRNA Processing, and Azoospermia
2021 · Liina Nagirnaja, Nina Mørup, et al. · New England Journal of Medicine · 113
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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
2020 · Margot J. Wyrwoll, Şehime G. Temel, et al. · The American Journal of Human Genetics · 104
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A de novo paradigm for male infertility
2022 · M. S. Oud, R. M. Smits, et al. · Nature Communications · 102
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Disease gene discovery in male infertility: past, present and future
2020 · M. J. Xavier, A. Salas-Huetos, et al. · Human Genetics · 95
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Diverse monogenic subforms of human spermatogenic failure
2022 · Liina Nagirnaja, Alexandra M. Lopes, et al. · Nature Communications · 92
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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
2018 · Gaël Nicolas, Rocío Acuña‐Hidalgo, et al. · Alzheimer s & Dementia · 84
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Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia
2019 · M S Oud, Ö Okutman, et al. · Human Reproduction · 72
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Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders
2021 · M S Oud, B J Houston, et al. · Human Reproduction · 70
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Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia
2017 · Manon S. Oud, Liliana Ramos, et al. · Human Mutation · 59
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Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure
2022 · Antoni Riera-Escamilla, Matthias Vockel, et al. · The American Journal of Human Genetics · 39
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
2021 · Jimmaline J. Hardy, Margot J. Wyrwoll, et al. · Human Genetics · 34
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans
2022 · Margot J. Wyrwoll, Channah M. Gaasbeek, et al. · The American Journal of Human Genetics · 29
TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility
2021 · Lucia A. Torres-Fernández, Jana Emich, et al. · Frontiers in Cell and Developmental Biology · 28
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
2024 · Emil E. Vorsteveld, Caspar I. Van der Made, et al. · Clinical Immunology · 25
De novo mutations in children born after medical assisted reproduction
2022 · R M Smits, M J Xavier, et al. · Human Reproduction · 22
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Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia
2025 · Antoni Riera-Escamilla, Mohamed M Arafa, et al. · Human Reproduction Open · 20
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Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience
2024 · Manon S. Oud, Nicole de Leeuw, et al. · Andrology · 20
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Scrutinizing the human TEX genes in the context of human male infertility
2023 · Marie. H. Sieper, Avinash S. Gaikwad, et al. · Andrology · 20
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Lack of evidence for a role of PIWIL1 variants in human male infertility
2021 · M.S. Oud, L. Volozonoka, et al. · Cell · 15
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Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility
2022 · Jana Emich, Avinash S. Gaikwad, et al. · Fertility and Sterility · 12
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Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos
2023 · Kim Joana Westerich, Solveig Reinecke, et al. · Human Reproduction · 8
Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach
2022 · Giles S. Holt, Lois E. Batty, et al. · Human Mutation · 8
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Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development
2020 · Brendan J Houston, Manon S Oud, et al. · G3 Genes Genomes Genetics · 6
Works count: 35
Citation count: 1,610
H-index: 20
I10-index: 22
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