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
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
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
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
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