Publications by authors named "Manon Oud"

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Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.
Noah C Helderman, Ting Yang, Claire Palles, Diantha Terlouw, Hailiang Mei, Manon S Oud

HGG Adv· October 2025

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Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.
Antoni Riera-Escamilla, Mohamed M Arafa, Ginevra Farnetani, Miguel J Xavier, Manon S Oud

Hum Reprod Open· September 2025

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Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.
Manon S Oud, Nicole de Leeuw, Dominique F C M Smeets, Liliana Ramos, Godfried W van der Heijden

Andrology· July 2025

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Scrutinizing the human TEX genes in the context of human male infertility.
Marie H Sieper, Avinash S Gaikwad, Marion Fros, Philipp Weber, Sara Di Persio, Manon S Oud

Andrology· March 2024

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WWC2 expression in the testis: Implications for spermatogenesis and male fertility.
Verena Höffken, Sara Di Persio, Sandra Laurentino, Margot J Wyrwoll, Nicole Terwort, Manon S Oud

FASEB J· May 2023

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Shaping the future of male reproductive health: fostering talent at the 14th Network of Young Researchers in Andrology meeting.
Daniel Marcu, Dorte Egeberg, Guillaume Richer, Manon Oud, Brendan Houston

Biol Open· May 2023

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Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos.
Kim Joana Westerich, Solveig Reinecke, Jana Emich, Margot Julia Wyrwoll, Birgit Stallmeyer, Manon S Oud

Hum Reprod· April 2023

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Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility.
Jana Emich, Avinash S Gaikwad, Birgit Stallmeyer, Daniela Fietz, Hans-Christian Schuppe, Manon S Oud

Fertil Steril· February 2023

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Diverse monogenic subforms of human spermatogenic failure.
Liina Nagirnaja, Alexandra M Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Manon S Oud

Nat Commun· December 2022

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Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach.
Giles S Holt, Lois E Batty, Bilal K S Alobaidi, Hannah E Smith, Manon S Oud

Hum Mutat· November 2022

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The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.
Margot J Wyrwoll, Channah M Gaasbeek, Ieva Golubickaite, Rytis Stakaitis, Manon S Oud

Am J Hum Genet· October 2022

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Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Antoni Riera-Escamilla, Matthias Vockel, Liina Nagirnaja, Miguel J Xavier, Albert Carbonell, Manon S Oud

Am J Hum Genet· August 2022

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A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Brendan J Houston, Antoni Riera-Escamilla, Margot J Wyrwoll, Albert Salas-Huetos, Miguel J Xavier, Manon S Oud

Hum Reprod Update· December 2021

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Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Jimmaline J Hardy, Margot J Wyrwoll, William Mcfadden, Agnieszka Malcher, Nadja Rotte, Manon Oud

Hum Genet· August 2021

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Variant , Defective piRNA Processing, and Azoospermia.
Liina Nagirnaja, Nina Mørup, John E Nielsen, Rytis Stakaitis, Ieva Golubickaite, Manon S Oud

N Engl J Med· August 2021

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Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility.
Lucia A Torres-Fernández, Jana Emich, Yasmine Port, Sibylle Mitschka, Marius Wöste, Manon S Oud

Front Cell Dev Biol· May 2021

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Programmed Cell Death 2-Like () Is Required for Mouse Embryonic Development.
Brendan J Houston, Manon S Oud, Daniel M Aguirre, D Jo Merriner, Anne E O'Connor

G3 (Bethesda)· December 2020

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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Margot J Wyrwoll, Şehime G Temel, Liina Nagirnaja, Manon S Oud, Alexandra M Lopes

Am J Hum Genet· August 2020

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Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.
Roos M Smits, Manon S Oud, Lisenka E L M Vissers, Dorien Lugtenberg, Didi D M Braat

Reprod Biomed Online· December 2019

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A systematic review and standardized clinical validity assessment of male infertility genes.
Manon S Oud, Ludmila Volozonoka, Roos M Smits, Lisenka E L M Vissers, Liliana Ramos

Hum Reprod· May 2019

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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Gaël Nicolas, Rocío Acuña-Hidalgo, Michael J Keogh, Olivier Quenez, Marloes Steehouwer, Manon S Oud

Alzheimers Dement· December 2018

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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.
Manon S Oud, Liliana Ramos, Moira K O'Bryan, Robert I McLachlan, Özlem Okutman

Hum Mutat· November 2017

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