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Publications

Recent publications published by researchers at the MRC WIMM.

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

Bush SJ. et al, (2024)

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

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

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

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

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, 34, 1404 - 1415

Assessing the landscape of selfish de novo mutations in human testes

Maher GJ. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 825 - 825

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

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Maher GJ. et al, (2018), Genome Res, 28, 1779 - 1790

The adult human testis transcriptional cell atlas.

Guo J. et al, (2018), Cell Res, 28, 1141 - 1157

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

GORIELY AE., (2018), Genome Research

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: implications for genetic counselling in postzygotic mosaicism cases

Bernkopf M. et al, (2018), EUROPEAN JOURNAL OF HUMAN GENETICS, 26, 142 - 142

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Maher G. et al, (2018)

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