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Publications

Recent publications published by researchers at the MRC WIMM.

Fine-tuning germline mutation rates across evolution.

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

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

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, 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

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)

Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development.

Guo J. et al, (2017), Cell Stem Cell, 21, 533 - 546.e6

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

Bernkopf M. et al, (2017), Hum Mutat, 38, 1360 - 1364

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