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J

Joris A. Veltman

faculty of medical sciences, biosciences institute, newcastle university , newcastle-upon-tyne,

102H-index
405Paper Count
3.7WCitation Count
Published Papers 206
Publication Date
Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios
err2026-05-29
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errAline Zarea; Kevin Cassinari; François Lecoquierre; Olivier Quenez; Camille Charbonnier; Catherine Schramm; Morgane Lacour; Stéphane Rousseau; Anne-Claire Richard; Anne Rovelet-Lecrux; Magalie Lecourtois; Robert Olaso; Anne Boland; Jean-François Deleuze; Christian Gilissen; Joris A. Veltman; Lisenka ELM Vissers; Céline Bellenguez; Orio Dols-Icardo; John Hardy; Henne Holstege; Marc Hulsman; Jean-Charles Lambert; Simon Mead; Alfredo Ramirez; Rebecca Sims; John van Swieten; Michael Wagner; Julie Williams; Stéphanie Bombois; Claire Boutoleau-Bretonniere; Ludivine Charmard-Witkowski; Vincent de la Sayette; Vincent Deramecourt; Frédérique Etcharry-Bouyx; Audrey Gabelle; Claude Gueriot; Gwenaël Le Guyader; Isabelle Le Ber; Thibaud Lebouvier; Olivier Martinaud; Agnès Michon; Chloé Quelin; Marie Sarazin; Mathieu Sévin; Christel Thauvin-Robinet; David Wallon; Gaël Nicolas
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Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia
err2025-08-29
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errAntoni Riera-Escamilla; Mohamed M Arafa; Ginevra Farnetani; Miguel J Xavier; Manon S Oud; Ahmad A Majzoub; Liliana Ramos; Chiara Abrardo; Matilde Spinelli; Daniel Moreno-Mendoza; Giuseppe Defazio; Elisabet Ars; Marc Pybus; Josvany R Sánchez Curbelo; Haitham T Elbardisi; Shoaib Nawaz; Najeeb Syed; Eduard Ruiz-Castané; Godfried W van der Heijden; Khalid A Fakhro; Joris A Veltman; Csilla Krausz
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Identification of missense DMC1 variants in males with non-obstructive azoospermia
err2025-08-15
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errNoor Ullah; Christopher Pombar; Rachel Hvasta-Gloria; Andrea J. Berman; Michelle Malizio; Muhammad Jaseem Khan; Rubina Nazli; Sadia Fatima; Antoni Riera-Escamilla; Helen Castillo-Madeen; Agnieszka Malcher; Marta Olszewska; Miguel J. Xavier; Kristiina Lillepea; Avirup Dutta; Carlos A. Castro; Anu Valkna; Rain Inno; Kyle E. Orwig; Donald F. Conrad; Maciej Kurpisz; Joris A. Veltman; Maris Laan; Alexander N. Yatsenko
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NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis
err2025-07-07
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errAnn-Kristin Dicke; Ammar Ahmedani; Lin Ma; Leonie Herrmann; Godfried W. van der Heijden; Sophie A. Koser; Claudia Krallmann; Oguzhan Kalyon; Miguel J. Xavier; Joris A. Veltman; Sabine Kliesch; Nina Neuhaus; Noora Kotaja; Frank Tüttelmann; Birgit Stallmeyer
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Expression of concern for global biomedical research by the human genome organization (HUGO)
err2025-04-26
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errHamosh, Ada; Arzuaga, Fabiana; Avraham, Karen B.; Bin Alwi, Zilfalil; Bowcock, Anne; Burn, Sir John; Carninci, Piero; Dandara, Collet; Lopes-Cendes, Iscia; Mutesa, Leon; Majumder, Partha P.; Reichardt, Juergen K., V; Veltman, Joris A.
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Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes
err2025-01-23
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errKikuchi, Yukiko; Uddin, Mohammed; Veltman, Joris A.; Wells, Sara; Morris, Christopher; Woodbury-Smith, Marc
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Why geneticists should care about male infertility
err2024-09-16
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PREAI
errVeltman, Joris A.; Tuettelmann, Frank
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Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility
err2024-08-09
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errStallmeyer, Birgit; Buehlmann, Clara; Stakaitis, Rytis; Dicke, Ann-Kristin; Ghieh, Farah; Meier, Luisa; Zoch, Ansgar; MacLeod, David MacKenzie; Steingroever, Johanna; Okutman, Ozlem; Fietz, Daniela; Pilatz, Adrian; Riera-Escamilla, Antoni; Xavier, Miguel J.; Ruckert, Christian; Di Persio, Sara; Neuhaus, Nina; Gurbuz, Ali Sami; Salvarci, Ahmet; Le May, Nicolas; Mceleny, Kevin; Friedrich, Corinna; van der Heijden, Godfried; Wyrwoll, Margot J.; Kliesch, Sabine; Veltman, Joris A.; Krausz, Csilla; Viville, Stephane; Conrad, Donald F.; O'Carroll, Donal; Tuettelmann, Frank
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Current global status of male reproductive health
err2024-04-12
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errDe Jonge, Christopher J.; Barratt, Christopher L. R.; Aitken, R. John; Anderson, Richard A.; Baker, Peter; Chan, David Y. L.; Connolly, Mark P.; Eisenberg, Michael L.; Garrido, Nicolas; Jorgensen, Niels; Kimmins, Sarah; Krausz, Csilla; Mclachlan, Robert, I; Niederberger, Craig; O'Bryan, Moira K.; Pacey, Allan; Priskorn, Laerke; Rautakallio-Hokkanen, Satu; Serour, Gamal; Veltman, Joris A.; Vogel, Donna L.; Vazquez-Levin, Monica H.
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Frequency, morbidity and equity - the case for increased research on male fertility
err2023-10-12
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PREAI
errKimmins, Sarah; Anderson, Richard A.; Barratt, Christopher L. R.; Behre, Hermann M.; Catford, Sarah R.; De Jonge, Christopher J.; Delbes, Geraldine; Eisenberg, Michael L.; Garrido, Nicolas; Houston, Brendan J.; Jorgensen, Niels; Krausz, Csilla; Lismer, Ariane; Mclachlan, Robert I.; Minhas, Suks; Moss, Tim; Pacey, Allan; Priskorn, Laerke; Schlatt, Stefan; Trasler, Jacquetta; Trasande, Leonardo; Tuettelmann, Frank; Vazquez-Levin, Monica Hebe; Veltman, Joris A.; Zhang, Feng; O'Bryan, Moira K.
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Improved phenotypic classification of male infertility to promote discovery of genetic causes
err2023-09-18
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PREAI
errWyrwoll, Margot J.; van der Heijden, Godfried W.; Krausz, Csilla; Aston, Kenneth I.; Kliesch, Sabine; McLachlan, Robert; Ramos, Liliana; Conrad, Donald F.; O'Bryan, Moira K.; Veltman, Joris A.; Tuettelmann, Frank
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De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders
err2023-01-01
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errWiel, Laurens; Hampstead, Juliet E.; Venselaar, Hanka; Vissers, Lisenka E. L. M.; Brunner, Han G.; Pfundt, Rolph; Vriend, Gerrit; Veltman, Joris A.; Gilissen, Christian
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Diverse monogenic subforms of human spermatogenic failure
err2022-12-26
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errNagirnaja, Liina; Lopes, Alexandra M.; Charng, Wu-Lin; Miller, Brian; Stakaitis, Rytis; Golubickaite, Ieva; Stendahl, Alexandra; Luan, Tianpengcheng; Friedrich, Corinna; Mahyari, Eisa; Fadial, Eloise; Kasak, Laura; Vigh-Conrad, Katinka; Oud, Manon S.; Xavier, Miguel J.; Cheers, Samuel R.; James, Emma R.; Guo, Jingtao; Jenkins, Timothy G.; Riera-Escamilla, Antoni; Barros, Alberto; Carvalho, Filipa; Fernandes, Susana; Goncalves, Joao; Gurnett, Christina A.; Jorgensen, Niels; Jezek, Davor; Jungheim, Emily S.; Kliesch, Sabine; McLachlan, Robert, I; Omurtag, Kenan R.; Pilatz, Adrian; Sandlow, Jay; Smith, James; Eisenberg, Michael L.; Hotaling, James M.; Jarvi, Keith A.; Punab, Margus; Rajpert-De Meyts, Ewa; Carrell, Douglas T.; Krausz, Csilla; Laan, Maris; O'Bryan, Moira K.; Schlegel, Peter N.; Tuettelmann, Frank; Veltman, Joris A.; Almstrup, Kristian; Aston, Kenneth, I; Conrad, Donald F.
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The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans
err2022-10-01
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errWyrwoll, Margot J.; Gaasbeek, Channah M.; Golubickaite, Ieva; Stakaitis, Rytis; Oud, Manon S.; Nagirnaja, Liina; Dion, Camille; Sindi, Emad B.; Leitch, Harry G.; Jayasena, Channa N.; Sironen, Anu; Dicke, Ann-Kristin; Rotte, Nadja; Stallmeyer, Birgit; Kliesch, Sabine; Grangeiro, Carlos H. P.; Araujo, Thais S. F.; Lasko, Paul; D'Hauwers, Kathleen; Smits, Roos M.; Ramos, Liliana; Xavier, Miguel J.; Conrad, Don F.; Almstrup, Kristian; Veltman, Joris A.; Tuettelmann, Frank; van der Heijden, Godfried W.
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Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach
err2022-09-14
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errHolt, Giles S.; Batty, Lois E.; Alobaidi, Bilal K. S.; Smith, Hannah E.; Oud, Manon S.; Ramos, Liliana; Xavier, Miguel J.; Veltman, Joris A.
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Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure
err2022-08-01
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errRiera-Escamilla, Antoni; Vockel, Matthias; Nagirnaja, Liina; Xavier, Miguel J.; Carbonell, Albert; Moreno-Mendoza, Daniel; Pybus, Marc; Farnetani, Ginevra; Rosta, Viktoria; Cioppi, Francesca; Friedrich, Corinna; Oud, Manon S.; van der Heijden, Godfried W.; Soave, Armin; Diemer, Thorsten; Ars, Elisabet; Sanchez-Curbelo, Josvany; Kliesch, Sabine; O'Bryan, Moira K.; Ruiz-Castane, Eduard; Azorin, Fernando; Veltman, Joris A.; Aston, Kenneth, I; Conrad, Donald F.; Tuettelmann, Frank; Krausz, Csilla
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De novo mutations in children born after medical assisted reproduction
err2022-04-12
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errSmits, R. M.; Xavier, M. J.; Oud, M. S.; Astuti, G. D. N.; Meijerink, A. M.; de Vries, P. F.; Holt, G. S.; Alobaidi, B. K. S.; Batty, L. E.; Khazeeva, G.; Sablauskas, K.; Vissers, L. E. L. M.; Gilissen, C.; Fleischer, K.; Braat, D. D. M.; Ramos, L.; Veltman, J. A.
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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
err2021-09-08
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errHouston, Brendan J.; Riera-Escamilla, Antoni; Wyrwoll, Margot J.; Salas-Huetos, Albert; Xavier, Miguel J.; Nagirnaja, Liina; Friedrich, Corinna; Conrad, Don F.; Aston, Kenneth, I; Krausz, Csilla; Tuttelmann, Frank; O'Bryan, Moira K.; Veltman, Joris A.; Oud, Manon S.
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Variant PNLDC1, Defective piRNA Processing, and Azoospermia
err2021-08-19
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errNagirnaja, L.; Morup, N.; Nielsen, J. E.; Stakaitis, R.; Golubickaite, I.; Oud, M. S.; Winge, S. B.; Carvalho, F.; Aston, K. I.; Khani, F.; van der Heijden, G. W.; Marques, C. J.; Skakkebaek, N. E.; Rajpert-De Meyts, E.; Schlegel, P. N.; Jorgensen, N.; Veltman, J. A.; Lopes, A. M.; Conrad, D. F.; Almstrup, K.
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