A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

[1] Forsberg LA(2017)Mosaicism in health and disease - clones picking up speed Nat Rev Genet. 18 128-142

[2] Gisselsson D(2013)A genomic view of mosaicism and human disease Nat Rev Genet. 14 307-320

[3] Dumanski JP(2017)Somatic mutations reveal asymmetric cellular dynamics in the early human embryo Nature. 543 714-718

[4] Biesecker LG(2015)Somatic mosaicism: implications for disease and transmission genetics Trends Genet 31 382-392

[5] Spinner NB(2014)Recent advances in the study of somatic mosaicism and diseases other than cancer Curr Opin Genet Dev 26 73-78

[6] Ju YS(2018)COSMIC: the catalogue of somatic mutations in Cancer Nucleic Acids Res 47 D941-D947

[7] Martincorena I(2014)Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals Cell Res 24 1311-1327

[8] Gerstung M(1993)Mosaicism in human skin. Understanding the patterns and mechanisms Arch Dermatol 129 1460-1470

[9] Petljak M(2018)High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders Genet Med 20 403-410

[10] Alexandrov LB(2016)The contribution of mosaic variants to autism spectrum disorder PLoS Genet 12 e1006245-1224

[1] Forsberg LA(2017)Mosaicism in health and disease - clones picking up speed Nat Rev Genet. 18 128-142

[2] Gisselsson D(2013)A genomic view of mosaicism and human disease Nat Rev Genet. 14 307-320

[3] Dumanski JP(2017)Somatic mutations reveal asymmetric cellular dynamics in the early human embryo Nature. 543 714-718

[4] Biesecker LG(2015)Somatic mosaicism: implications for disease and transmission genetics Trends Genet 31 382-392

[5] Spinner NB(2014)Recent advances in the study of somatic mosaicism and diseases other than cancer Curr Opin Genet Dev 26 73-78

[6] Ju YS(2018)COSMIC: the catalogue of somatic mutations in Cancer Nucleic Acids Res 47 D941-D947

[7] Martincorena I(2014)Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals Cell Res 24 1311-1327

[8] Gerstung M(1993)Mosaicism in human skin. Understanding the patterns and mechanisms Arch Dermatol 129 1460-1470

[9] Petljak M(2018)High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders Genet Med 20 403-410

[10] Alexandrov LB(2016)The contribution of mosaic variants to autism spectrum disorder PLoS Genet 12 e1006245-1224