Recent publications published by researchers at the MRC WIMM.
Fine-tuning germline mutation rates across evolution.
Journal article
Bush SJ. and Goriely A., (2023), Trends Genet
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Journal article
Bernkopf M. et al, (2023), Nat Commun, 14
The impact of paternal age on new mutations and disease in the next generation
Journal article
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
Preprint
Bernkopf M. et al, (2022)
Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer
Journal article
Tharmalingam MD. et al, (2020), BMC Medicine, 18
amplimap: a versatile tool to process and analyze targeted NGS data.
Journal article
Koelling N. et al, (2020), Bioinformatics, 36
The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty.
Journal article
Guo J. et al, (2020), Cell Stem Cell, 26, 262 - 276.e4
Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis.
Journal article
Maher GJ. and Goriely A., (2020), Asian J Androl, 22
amplimap: a versatile tool to process and analyze targeted NGS data.
Journal article
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
Conference paper
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.
Journal article
Maher GJ. et al, (2019), Hum Reprod, 34, 1404 - 1415
Assessing the landscape of selfish de novo mutations in human testes
Conference paper
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.
Journal article
Maher GJ. et al, (2018), Genome Res, 28, 1779 - 1790
The adult human testis transcriptional cell atlas.
Journal article
Guo J. et al, (2018), Cell Res, 28, 1141 - 1157
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
Journal article
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
Conference paper
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
Preprint
Maher G. et al, (2018)
Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development.
Journal article
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.
Journal article
Bernkopf M. et al, (2017), Hum Mutat, 38, 1360 - 1364