Mosaicism in traditional Mendelian diseases

TW Ting, R Shahdadpuri, SS Jamuar - Current Genetic Medicine Reports, 2015 - Springer
Somatic mutations are post-zygotic mutational event that leads to generation of two or more
genotypes within an individual. With the recent advances in genomic technologies, there is …

Mosaicism in rare disease

BE Avigdor, IA Osei-Owusu, J Pevsner - Genomics of rare diseases, 2021 - Elsevier
Mosaicism is the presence of two or more genomes in an individual derived from a single
zygote. Mosaicism may occur in germ cells (germline mosaicism), potentially causing …

[HTML][HTML] De novo mutations, genetic mosaicism and human disease

M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
Mosaicism—the existence of genetically distinct populations of cells in a particular organism—
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …

Somatic mosaicism: implications for disease and transmission genetics

IM Campbell, CA Shaw, P Stankiewicz, JR Lupski - Trends in Genetics, 2015 - cell.com
Nearly all of the genetic material among cells within an organism is identical. However,
single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants …

Mosaicism and clinical genetics

NB Spinner, LK Conlin - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
With the introduction of increasingly sensitive technologies for mutation detection such as
chromosomal microarrays and next‐generation sequencing, the importance of mosaicism …

Mosaicism in human health and disease

J Thorpe, IA Osei-Owusu, BE Avigdor… - Annual review of …, 2020 - annualreviews.org
Mosaicism refers to the occurrence of two or more genomes in an individual derived from a
single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be …

Characterization of early postzygotic somatic mutations through multi-organ analysis

H Lee, EN Kim, JY Lee, JH Kim, JH Oh… - Journal of Human …, 2021 - nature.com
Mosaicisms caused by postzygotic mutational events are of increasing interest because of
their potential association with various human diseases. Postzygotic somatic mutations have …

[HTML][HTML] Mosaicism: implications for genetic counseling and medical management

L Waldman - Number 4/August 2017, 2017 - cjon.ons.org
Although the idea that all cells in the body contain an identical genetic component
(genotype) may be a tempting one, the reality is that cells often differ genetically. Mosaicism …

Somatic mosaicism and neurological diseases

SS Jamuar, AM D'Gama, CA Walsh - Genomics, circuits, and pathways in …, 2016 - Elsevier
Somatic mutations occur after the formation of the zygote, reflecting random mutations
during normal mitotic cell divisions of embryonic development, and are hence present in …

[HTML][HTML] Somatic mosaicism in the human genome

D Freed, EL Stevens, J Pevsner - Genes, 2014 - mdpi.com
Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …