User profiles for Mark Hills

Mark Hills

Associate Professor, Appalachian State University
Verified email at appstate.edu
Cited by 789

Telomere length measurement—Caveats and a critical assessment of the available technologies and tools

G Aubert, M Hills, PM Lansdorp - Mutation Research/Fundamental and …, 2012 - Elsevier
Studies of telomeres and telomere biology often critically rely on the detection of telomeric
DNA and measurements of the length of telomere repeats in either single cells or populations …

DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution

E Falconer, M Hills, U Naumann, SSS Poon… - Nature …, 2012 - nature.com
DNA rearrangements such as sister chromatid exchanges (SCEs) are sensitive indicators of
genomic stress and instability, but they are typically masked by single-cell sequencing …

Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia

RT Calado, JA Regal, M Hills… - Proceedings of the …, 2009 - National Acad Sciences
Loss-of-function mutations in telomerase complex genes can cause bone marrow failure,
dyskeratosis congenita, and acquired aplastic anemia, both diseases that predispose to acute …

Variant repeats are interspersed throughout the telomeres and recruit nuclear receptors in ALT cells

D Conomos, MD Stutz, M Hills, AA Neumann… - Journal of Cell …, 2012 - rupress.org
Telomeres in cells that use the recombination-mediated alternative lengthening of telomeres
(ALT) pathway elicit a DNA damage response that is partly independent of telomere length. …

Telomere extension by telomerase and ALT generates variant repeats by mechanistically distinct processes

M Lee, M Hills, D Conomos, MD Stutz… - Nucleic acids …, 2014 - academic.oup.com
Telomeres are terminal repetitive DNA sequences on chromosomes, and are considered to
comprise almost exclusively hexameric TTAGGG repeats. We have evaluated telomere …

Single-cell template strand sequencing by Strand-seq enables the characterization of individual homologs

AD Sanders, E Falconer, M Hills, DCJ Spierings… - Nature …, 2017 - nature.com
The ability to distinguish between genome sequences of homologous chromosomes in single
cells is important for studies of copy-neutral genomic rearrangements (such as inversions …

Telomere elongation involves intra-molecular DNA replication in cells utilizing alternative lengthening of telomeres

A Muntoni, AA Neumann, M Hills… - Human molecular …, 2009 - academic.oup.com
Alternative lengthening of telomeres (ALT) is a telomere length maintenance mechanism
based on recombination, where telomeres use other telomeric DNA as a template for DNA …

Characterizing polymorphic inversions in human genomes by single-cell sequencing

AD Sanders, M Hills, D Porubský, V Guryev… - Genome …, 2016 - genome.cshlp.org
Identifying genomic features that differ between individuals and cells can help uncover the
functional variants that drive phenotypes and disease susceptibilities. For this, single-cell …

An empirical study of PHP feature usage: a static analysis perspective

M Hills, P Klint, J Vinju - … of the 2013 international symposium on …, 2013 - dl.acm.org
PHP is one of the most popular languages for server-side application development. The
language is highly dynamic, providing programmers with a large amount of flexibility. However, …

Direct chromosome-length haplotyping by single-cell sequencing

…, N Van Wietmarschen, E Falconer, M Hills… - Genome …, 2016 - genome.cshlp.org
Haplotypes are fundamental to fully characterize the diploid genome of an individual, yet
methods to directly chart the unique genetic makeup of each parental chromosome are lacking. …