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M. Oud · SciRah

Researcher profile · Semantic Scholar

M. Oud

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M. Oud — researcher profile on SciRah

h-index: 17
Works: 39
Citations: 1,244

Most-cited papers

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships
B. Houston, A. Riera-Escamilla, M. J. Wyrwoll, Albert Salas-Huetos +10 more
2021medRxiv226 citations Open access
Semantic Scholar
A systematic review and standardized clinical validity assessment of male infertility genes
M. Oud, L. Voložonoka, R. Smits, L. Vissers +2 more
2018bioRxiv178 citations Open access
Semantic Scholar
Variant PNLDC1, Defective piRNA Processing and Azoospermia
L. Nagirnaja, N. Mørup, J. Nielsen, Rytis Stakaitis +16 more
2021New England Journal of Medicine87 citations Open access
Semantic Scholar
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
M. J. Wyrwoll, S. Temel, L. Nagirnaja, M. Oud +30 more
2020American Journal of Human Genetics84 citations Open access
Semantic Scholar
Disease gene discovery in male infertility: past, present and future
M. J. Xavier, Albert Salas-Huetos, M. Oud, K. Aston +1 more
2020Human Genetics74 citations Open access
Semantic Scholar
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease
G. Nicolas, Rocio Acuna-Hidalgo, M. Keogh, O. Quenez +20 more
2018Alzheimer's & Dementia72 citations Open access
Semantic Scholar
Diverse monogenic subforms of human spermatogenic failure
L. Nagirnaja, Alexandra M. Lopes, W. Charng, Brian Miller +45 more
2022Nature Communications68 citations Open access
Semantic Scholar
Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders
M. Oud, B. Houston, L. Voložonoka, F. K. Mastrorosa +10 more
2021Human Reproduction58 citations Open access
Semantic Scholar
A de novo paradigm for male infertility
M. Oud, R. Smits, H. Smith, F. K. Mastrorosa +65 more
2021Nature Communications55 citations Open access
Semantic Scholar
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia
M. Oud, Ö. Okutman, L. A. Hendricks, P. D. de Vries +7 more
2020Human Reproduction50 citations Open access
Semantic Scholar
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia
M. Oud, L. Ramos, M. O'Bryan, R. McLachlan +14 more
2017Human Mutation48 citations Open access
Semantic Scholar
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, M. J. Xavier +22 more
2022American Journal of Human Genetics31 citations Open access
Semantic Scholar
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
Jimmaline J. Hardy, M. J. Wyrwoll, W. Mcfadden, A. Malcher +27 more
2021Human Genetics29 citations Open access
Semantic Scholar
TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility
Lucia A. Torres-Fernández, J. Emich, Yasmine Port, Sibylle Mitschka +12 more
2021Frontiers in Cell and Developmental Biology25 citations Open access
Semantic Scholar
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans
M. J. Wyrwoll, Channah M Gaasbeek, Ieva Golubickaitė, Rytis Stakaitis +23 more
2022American Journal of Human Genetics24 citations Open access
Semantic Scholar
De novo mutations in children born after medical assisted reproduction
R. Smits, M. J. Xavier, M. Oud, G. Astuti +13 more
2022Human Reproduction20 citations Open access
Semantic Scholar
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
E. Vorsteveld, C. I. van der Made, S. P. Smeekens, J. Schuurs-Hoeijmakers +52 more
2024Clinical Immunology18 citations Open access
Semantic Scholar
Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience
M. Oud, N. de Leeuw, D. Smeets, Liliana Ramos +9 more
2024Andrology16 citations Open access
Semantic Scholar
Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia
A. Riera-Escamilla, M. Arafa, G. Farnetani, M. J. Xavier +18 more
2025Human Reproduction Open13 citations Open access
Semantic Scholar
Scrutinizing the human TEX genes in the context of human male infertility
Marie H. Sieper, A. Gaikwad, Marion Fros, P. Weber +7 more
2023Andrology13 citations Open access
Semantic Scholar
Lack of evidence for a role of PIWIL1 variants in human male infertility
M. Oud, L. Voložonoka, C. Friedrich, S. Kliesch +8 more
2021Cell12 citations Open access
Semantic Scholar
Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility.
J. Emich, Avinash Gaikwad, B. Stallmeyer, D. Fietz +6 more
2022Fertility and Sterility9 citations Open access
Semantic Scholar
Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos.
K. J. Westerich, Solveig Reinecke, J. Emich, M. J. Wyrwoll +13 more
2023Human Reproduction8 citations
Semantic Scholar
Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach
Giles S. Holt, L. Batty, B. Alobaidi, H. Smith +4 more
2022Human Mutation7 citations Open access
Semantic Scholar
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9
N. C. Helderman, Ting Yang, C. Palles, D. Terlouw +36 more
2024medRxiv6 citations Open access
Semantic Scholar
Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development
B. Houston, M. Oud, D. Aguirre, D. J. Merriner +6 more
2020G35 citations Open access
Semantic Scholar
Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.
R. Smits, M. Oud, L. Vissers, D. Lugtenberg +4 more
2019Reproductive Biomedicine Online3 citations
Semantic Scholar
Shaping the future of male reproductive health: fostering talent at the 14th Network of Young Researchers in Andrology meeting
Daniela Marcu, Dorte Egeberg, G. Richer, M. Oud +3 more
2023Biology Open2 citations Open access
Semantic Scholar
WWC2 expression in the testis: Implications for spermatogenesis and male fertility
Verena Höffken, S. Di Persio, S. Laurentino, M. J. Wyrwoll +10 more
2023The FASEB Journal2 citations Open access
Semantic Scholar
Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility
M. J. Wyrwoll, S. Temel, L. Nagirnaja, M. Oud +26 more
2019bioRxiv2 citations Open access
Semantic Scholar
O-154 Genetic screening in male infertility: time for new guidelines?
M. Oud
2022Human Reproduction1 citations Open access
Semantic Scholar
Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach
G. S. Holt, L. Batty, B. Alobaidi, H. Smith +4 more
2022bioRxiv1 citations Open access
Semantic Scholar
TRIM71 deficiency causes germ cell loss during mouse embryogenesis and promotes human male infertility
Lucia A. Torres-Fernández, J. Emich, Yasmine Port, Sibylle Mitschka +12 more
2021bioRxiv1 citations Open access
Semantic Scholar
A clinical protocol for the detection of comorbidities associated with monogenic causes of male infertility
G. W. van der Heijden, D. Westra, M. C. S. van Olden, W. Hobo +10 more
2026Human Reproduction0 citations Open access
Semantic Scholar
7096 Variants in WASHC3, a component of the WASH complex, cause distinctive facial dysmorphism, short stature, and variable neurodevelopmental abnormalities
Y. Jee, J. Lui, Dana Marafi, Z. Xia +22 more
2024Journal of the Endocrine Society0 citations Open access
Semantic Scholar
OP-HURU210030 1..15
B. Houston, A. Riera-Escamilla, M. J. Wyrwoll, Albert Salas-Huetos +10 more
20210 citations
Semantic Scholar
Variants in PIWIL1 Do Not Play a Major Role in Human Male Infertility
M. Oud, L. Voložonoka, C. Friedrich, S. Kliesch +8 more
20200 citations Open access
Semantic Scholar
Disease gene discovery in male infertility: past, present and future
M. J. Xavier, A. Salas-Huetos, M. Oud, K. Aston +1 more
2020Human Genetics0 citations Open access
Semantic Scholar
Genetic screening in cases of extreme poor spermatogenesis
L. Ramos, M. Oud, L. Vissers, M. Noordman +1 more
20170 citations
Semantic Scholar

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