Publications — Radcliffe Department of Medicine

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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

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)

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

Rajpert‐De Meyts E. et al, (2024), The Journal of Pathology

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

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

Fine-tuning germline mutation rates across evolution.

Bush SJ. and Goriely A., (2023), Trends Genet

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

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

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

Wood KA. and Goriely A., (2022), Fertility and Sterility

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 Medicine, 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

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

Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350

The PREGCARE study: precision genetic counselling via personalised evaluation of recurrence risk for families with a child affected by a disorder caused by a de novo mutation

Abdullah UB. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1101 - 1102

The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.

Maher GJ. et al, (2019), Hum Reprod

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