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Manon Oud
Manon Oud
Clinical Laboratory Geneticist in training
Geverifieerd e-mailadres voor radboudumc.nl - Homepage
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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
1302019
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
G Nicolas, R AcuŮa‐Hidalgo, MJ Keogh, O Quenez, M Steehouwer, ...
Alzheimer's & Dementia 14 (12), 1632-1639, 2018
522018
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
372022
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, ÷ Okutman, S Viville, ...
Human Mutation 38 (11), 1592-1605, 2017
362017
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
352021
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
302020
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia
MS Oud, ÷ Okutman, LAJ Hendricks, PF de Vries, BJ Houston, L Vissers, ...
Human reproduction 35 (1), 240-252, 2020
232020
Variant PNLDC1, Defective piRNA Processing, and Azoospermia
L Nagirnaja, N MÝrup, JE Nielsen, R Stakaitis, I Golubickaite, MS Oud, ...
New England Journal of Medicine 385 (8), 707-719, 2021
182021
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
122021
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
112021
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
72021
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
62022
TRIM71 deficiency causes germ cell loss during mouse embryogenesis and is associated with human male infertility
LA Torres-FernŠndez, J Emich, Y Port, S Mitschka, M WŲste, S Schneider, ...
Frontiers in cell and developmental biology, 970, 2021
52021
Diverse Monogenic Subforms of Human Spermatogenic Failure
L Nagirnaja, AM Lopes, WL Charng, B Miller, R Stakaitis, I Golubickaite, ...
medRxiv, 2022
32022
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
32019
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
22020
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
12022
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
12019
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, 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
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