[HTML][HTML] New insights into the generation and role of de novo mutations in health and disease

R Acuna-Hidalgo, JA Veltman, A Hoischen - Genome biology, 2016 - Springer
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the …

CR Boland, SN Thibodeau, SR Hamilton, D Sidransky… - Cancer research, 1998 - AACR
Abstract In December 1997, the National Cancer Institute sponsored “The International
Workshop on Microsatellite Instability and RER Phenotypes in Cancer Detection and …

Patterns of de novo tandem repeat mutations and their role in autism

I Mitra, B Huang, N Mousavi, N Ma, M Lamkin… - Nature, 2021 - nature.com
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours …

Abundant contribution of short tandem repeats to gene expression variation in humans

M Gymrek, T Willems, A Guilmatre, H Zeng, B Markus… - Nature …, 2016 - nature.com
The contribution of repetitive elements to quantitative human traits is largely unknown. Here
we report a genome-wide survey of the contribution of short tandem repeats (STRs), which …

Microsatellites: simple sequences with complex evolution

H Ellegren - Nature reviews genetics, 2004 - nature.com
Few genetic markers, if any, have found such widespread use as microsatellites, or
simple/short tandem repeats. Features such as hypervariability and ubiquitous occurrence …

A measure of population subdivision based on microsatellite allele frequencies.

M Slatkin - Genetics, 1995 - academic.oup.com
A new measure of the extent of population subdivision as inferred from allele frequencies at
microsatellite loci is proposed and tested with computer simulations. This measure, called R …

Poly (disulfide) s: from synthesis to drug delivery

R Zhang, T Nie, Y Fang, H Huang, J Wu - Biomacromolecules, 2021 - ACS Publications
Bioresponsive polymers have been widely used in drug delivery because of their
degradability. For example, poly (disulfide) s with repeating disulfide bonds in the main …

Detection of reduction in population size using data from microsatellite loci

JC Garza, EG Williamson - Molecular ecology, 2001 - Wiley Online Library
We demonstrate that the mean ratio of the number of alleles to the range in allele size, which
we term M, calculated from a population sample of microsatellite loci, can be used to detect …

Variable tandem repeats accelerate evolution of coding and regulatory sequences

R Gemayel, MD Vinces, M Legendre… - Annual review of …, 2010 - annualreviews.org
Genotype-to-phenotype mapping commonly focuses on two major classes of mutations:
single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Here, we …

Microsatellites, from molecules to populations and back

P Jarne, PJL Lagoda - Trends in ecology & evolution, 1996 - cell.com
H istory sometimes takes ironical twists, and the history of science is no exception.
Microsatellites have been detected in eukaryote genomes for over 15 years, though they …