New Insights into the Genetic Basis of Monge’s Disease and Adaptation to High-Altitude

SENP1, but not fetal hemoglobin, differentiates Andean highlanders with chronic mountain sickness from healthy individuals among Andean highlanders

(2016) Matthew M. Hsieh et al.   EXPERIMENTAL HEMATOLOGY

Senp1 drives hypoxia-induced polycythemia via GATA1 and Bcl-xL in subjects with Monge’s disease

(2016) Priti Azad et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Deep sequencing of 10,000 human genomes

(2016) Amalio Telenti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

pVHL suppresses kinase activity of Akt in a proline-hydroxylation-dependent manner

(2016) J. Guo et al.   SCIENCE

Intraflagellar transport is essential for mammalian spermiogenesis but is absent in mature sperm

(2015) Jovenal T. San Agustin et al.   MOLECULAR BIOLOGY OF THE CELL

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Endothelin receptor B, a candidate gene from human studies at high altitude, improves cardiac tolerance to hypoxia in genetically engineered heterozygote mice

(2015) Tsering Stobdan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SGK3 (CISK) may induce tumor angiogenesis (Hypothesis)

(2015) MINZHI HOU et al.   Oncology Letters

Predicting Carriers of Ongoing Selective Sweeps without Knowledge of the Favored Allele

(2015) Roy Ronen et al.   PLoS Genetics

A HIF-Independent Mediator of Transcriptional Responses to Oxygen Deprivation in Caenorhabditis elegans

(2015) D. Padmanabha et al.   GENETICS

Melanocortins Contribute to Sequential Differentiation and Enucleation of Human Erythroblasts via Melanocortin Receptors 1, 2 and 5

(2015) Eriko Simamura et al.   PLoS One

Genetic Variation in SENP1 and ANP32D as Predictors of Chronic Mountain Sickness

(2014) Amy M. Cole et al.   HIGH ALTITUDE MEDICINE & BIOLOGY

On Detecting Incomplete Soft or Hard Selective Sweeps Using Haplotype Structure

(2014) Anna Ferrer-Admetlla et al.   MOLECULAR BIOLOGY AND EVOLUTION

selscan: An Efficient Multithreaded Program to Perform EHH-Based Scans for Positive Selection

(2014) Z. A. Szpiech et al.   MOLECULAR BIOLOGY AND EVOLUTION

Whole genome sequencing of Ethiopian highlanders reveals conserved hypoxia tolerance genes

(2014) Nitin Udpa et al.   GENOME BIOLOGY

Whole-Genome Sequencing Uncovers the Genetic Basis of Chronic Mountain Sickness in Andean Highlanders

(2013) Dan Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CSPP1 Lead to Classical Joubert Syndrome

(2013) Naiara Akizu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

CrossMap: a versatile tool for coordinate conversion between genome assemblies

(2013) Hao Zhao et al.   BIOINFORMATICS

Learning Natural Selection from the Site Frequency Spectrum

(2013) R. Ronen et al.   GENETICS

Hypoxia reduces CD138 expression and induces an immature and stem cell-like transcriptional program in myeloma cells

(2013) YAWARA KAWANO et al.   INTERNATIONAL JOURNAL OF ONCOLOGY

Expression of fetal hemoglobin in adult humans exposed to high altitude hypoxia

(2012) Angela Risso et al.   BLOOD CELLS MOLECULES AND DISEASES

Reconstructing Native American population history

(2012) David Reich et al.   NATURE

Identification of Genes Underlying Hypoxia Tolerance in Drosophila by a P-element Screen

(2012) Priti Azad et al.   G3-Genes Genomes Genetics

The Genetic Architecture of Adaptations to High Altitude in Ethiopia

(2012) Gorka Alkorta-Aranburu et al.   PLoS Genetics

Genetic adaptation to high altitude in the Ethiopian highlands

(2012) Laura B Scheinfeldt et al.   GENOME BIOLOGY

SGK3 Is an Estrogen-Inducible Kinase Promoting Estrogen-Mediated Survival of Breast Cancer Cells

(2010) Yuanzhong Wang et al.   MOLECULAR ENDOCRINOLOGY

Natural selection on EPAS1 (HIF2 ) associated with low hemoglobin concentration in Tibetan highlanders

(2010) C. M. Beall et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Evidence for High-Altitude Adaptation in Tibet

(2010) T. S. Simonson et al.   SCIENCE

Identifying Signatures of Natural Selection in Tibetan and Andean Populations Using Dense Genome Scan Data

(2010) Abigail Bigham et al.   PLoS Genetics

Constructing genomic maps of positive selection in humans: Where do we go from here?

(2009) J. M. Akey   GENOME RESEARCH

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

Enredo and Pecan: Genome-wide mammalian consistency-based multiple alignment with paralogs

(2008) B. Paten et al.   GENOME RESEARCH

Adaptation and Mal-Adaptation to Ambient Hypoxia; Andean, Ethiopian and Himalayan Patterns

(2008) Guoqiang Xing et al.   PLoS One