Publications — Radcliffe Department of Medicine

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

Koelling N. et al, (2020), Bioinformatics

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

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

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

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders.

Wilkie AOM. and Goriely A., (2017), Prenat Diagn, 37, 946 - 948

Gonadal mosaicism and non-invasive prenatal diagnosis for “reassurance” in sporadic paternal age effect (PAE) disorders

Goriely AE. and wilkie AOM., (2017), Prenatal Diagnosis

Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.

Janecka M. et al, (2017), Transl Psychiatry, 7

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Giannoulatou E. et al, (2017), PLoS One, 12

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

Stevenson DA. et al, (2016), Am J Med Genet A, 170, 1959 - 1966

Decoding germline de novo point mutations.

Goriely A., (2016), Nat Genet, 48, 823 - 824

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL. et al, (2016), Am J Hum Genet, 99, 125 - 138

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