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

Journal article

Koelling N. et al, (2020), Bioinformatics

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

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

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

Journal article

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

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

Journal article

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

Decoding germline de novo point mutations.

Journal article

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

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