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Publications

Recent publications published by researchers at the MRC WIMM.

Onwards! Open science and the (PLOS) genetics community

Dudley AM. et al, (2024), PLOS Genetics, 20, e1011466 - e1011466

Menopause age shaped by genes that influence mutation risk.

Goriely A., (2024), Nature

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Wood KA. et al, (2024), Am J Hum Genet

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Chen Y. et al, (2024), Nature

Professionals' views on providing personalized recurrence risks for de novo mutations: Implications for genetic counseling

Kay AC. et al, (2024), Journal of Genetic Counseling

New analysis of atypical spermatocytic tumours reveals extensive heterogeneity and plasticity of germ cell tumours†.

Rajpert-De Meyts E. et al, (2024), J Pathol, 263, 1 - 4

Adult Human, but Not Rodent, Spermatogonial Stem Cells Retain States with a Foetal-like Signature

Bush SJ. et al, (2024), Cells, 13, 742 - 742

Human spermatogonial stem cells retain states with a foetal-like signature

Bush SJ. et al, (2024)

SMAD4-associated Myhre-syndrome mutations are under positive selection in the male germline

Wood K. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 4 - 4

Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners.

Kay AC. et al, (2023), J Med Genet, 60, 925 - 931

Fine-tuning germline mutation rates across evolution.

Bush SJ. and Goriely A., (2023), Trends Genet, 39, 598 - 599

The Impact of Paternal Age on New Mutations and Disease in the Next Generation

Wood KA. and Goriely A., (2023), Obstetrical and Gynecological Survey, 78, 329 - 331

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Bernkopf M. et al, (2023), Nat Commun, 14

Can patients meaningfully contribute to genomics research?

Mayet H. et al, (2023), BRITISH JOURNAL OF HAEMATOLOGY, 201, 77 - 78

The impact of paternal age on new mutations and disease in the next generation.

Wood KA. and Goriely A., (2022), Fertil Steril, 118, 1001 - 1012

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Bernkopf M. et al, (2022)

Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer.

Tharmalingam MD. et al, (2020), BMC Med, 18

amplimap: a versatile tool to process and analyze targeted NGS data.

Koelling N. et al, (2020), Bioinformatics, 36

The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty.

Guo J. et al, (2020), Cell Stem Cell, 26, 262 - 276.e4

Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis.

Maher GJ. and Goriely A., (2020), Asian J Androl, 22

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