Newcastle University
Member Details

Prof Dr Joris Veltman
Biosciences Institute
Faculty of Medical Sciences
Newcastle University

Biosciences Institute
M3.044 William Leech Building
Medical School
Newcastle University
United Kingdom

Telephone: +44 0191 241 8611
Fax: +44 0191 241 8666

University URL:

Team Members

Newcastle University

  • Shrooq Alzahrani – PhD student
  • Inas Natasya Harding – Research technician
  • Cristina Diaz – PhD student
  • David Elliott – Geneticist, RNA biology expert
  • Joan Hughes – Research nurse
  • Giles Holt – Postdoctoral fellow
  • Oguzhan Kalyon – PhD student
  • Kevin McEleny – Consultant urological surgeon and andrologist
  • Miguel Xavier – Senior Postdoctoral fellow


The genomics and bioinformatics working group will focus on setting standards for performing, analyzing and sharing data from genomics studies.

Member Description

Prof. Veltman leads a multidisciplinary research group with expertise in genome technology, molecular biology and bioinformatics. The group is particularly focused on studying the role of de novo mutations and structural variation in severe forms of male infertility, using patient-parent trio-based exome and genome sequencing, high-throughput bioinformatics analyses and statistical models. We aim to identify genes and biological mechanisms involved in male (in)fertility and consecutively develop genetic tests for implementation in routine diagnostics. In addition, we are studying the impact of parental age and the use of assisted reproductive technologies on the health of the offspring.
Prof. Veltman moved in 2017 from Radboudumc in Nijmegen, The Netherlands, to Newcastle University, Newcastle-upon-Tyne, United Kingdom where he recently became the new Dean of the Biosciences Institute in the Faculty of Medical Sciences. He continues to work closely with colleagues in Nijmegen.
The male infertility studies are done in close collaboration with fertility experts from the Newcastle University, the NHS Fertility Clinic, UK fertility clinics and international collaborators.


De Jonge CJ, Barratt CLR, Aitken RJ et al (2024). Current global status of male reproductive health. Hum Reprod Open. 2024(2):hoae017.

Kimmins S, Anderson RA, Barratt CLR et al (2024). Frequency, morbidity and equity – the case for increased research on male fertility. Nat Rev Urol. 21(2):102-124.

Wyrwoll MJ, van der Heijden GW, Krausz C et al (2024). Improved phenotypic classification of male infertility to promote discovery of genetic causes. Nat Rev Urol. 21(2):91-101.

Nagirnaja L, Lopes AM, Charng WL et al (2022). Diverse monogenic subforms of human spermatogenic failure. Nat Commun. 13(1):7953.

Holt GS, Batty LE, Alobaidi BKS et al (2022). Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach. Hum Mutat. 2022 Nov;43(11):1545-1556.

Wyrwoll MJ, Gaasbeek CM, Golubickaite I et al (2022). The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans. Am J Hum Genet. 109(10):1850-1866.

Riera-Escamilla A, Vockel M, Nagirnaja L et al (2022). Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure. Am J Hum Genet. 109(8):1458-1471.

Smits RM, Xavier MJ, Oud MS et al (2022). De novo mutations in children born after medical assisted reproduction. Hum Reprod. 37(6):1360-1369.

Oud MS, Smits RM, Smith HE et al (2022). A de novo paradigm for male infertility. Nat Commun. 13(1):154.

Houston BJ, Riera-Escamilla A, Wyrwoll MJ et al (2021). A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Hum Reprod Update. 28(1):15-29.

Oud MS, Houston BJ, Volozonoka L et al (2021). Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders. Hum Reprod. 36(9):2597-2611.

Nagirnaja L, Mørup N, Nielsen JE, et al (2021). Variant PNLDC1 , Defective piRNA Processing, and Azoospermia. New England Journal of Medicine, NEJMoa2028973.

Batiha O, Burghel GJ, Alkofahi A, et al (2021). Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males. Human Fertility, 1–8.

Hardy JJ, Wyrwoll MJ, Mcfadden W, et al (2021). Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. Human Genetics, 140(8), 1169–1182.

Barratt CLR, De Jonge CJ, Anderson RA, et al (2021). A global approach to addressing the policy, research and social challenges of male reproductive health. Human Reproduction Open, 2021(1).

Liu C, Tu C, Wang L, et al (2021). Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. The American Journal of Human Genetics, 108(2), 309–323.

Oud MS, Volozonoka L, Friedrich C, et al (2021). Lack of evidence for a role of PIWIL1 variants in human male infertility. Cell, 184(8), 1941–1942.

Xavier MJ, Salas-Huetos A, Oud MS, et al (2021). Disease gene discovery in male infertility: past, present and future. Human Genetics, 140(1), 7–19.

Houston BJ, Oud MS, Aguirre DM, et al (2020). Programmed Cell Death 2-Like ( Pdcd2l ) Is Required for Mouse Embryonic Development. G3 Genes|Genomes|Genetics, 10(12), 4449–4457.

Wyrwoll MJ, Temel ŞG, Nagirnaja L, et al (2020) Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. Am J Hum Genet 107:342–351.

Oud MS, Okutman Ö, Hendricks LAJ, et al (2020) Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. Hum Reprod 35:240–252.

Oud MS, Volozonoka L, Smits RM, et al (2019) A systematic review and standardized clinical validity assessment of male infertility genes. Hum Reprod 34:932–941.

Goldmann JM, Veltman JA, Gilissen C (2019) De Novo Mutations Reflect Development and Aging of the Human Germline. Trends Genet 35:828–839.

Smits RM, Oud MS, Vissers LELM, et al (2019) Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series. Reprod Biomed Online 39:963–968.

Oud MS, Ramos L, O’Bryan MK, et al (2017) Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. Hum Mutat 38:1592–1605.


Personal research grant Prof. Veltman (VICI), Netherlands Organization for Scientific Research: Causes and consequences of de novo mutations in intellectual disability and male infertility (2016-2020).

Wellcome Trust Senior Investigator Award: De novo mutations in male infertility (2018-2025)