User profiles for Alessandra Chesi

Alessandra Chesi

University of Pennsylvania
Verified email at pennmedicine.upenn.edu
Cited by 8266

Genome-wide analysis of mammalian promoter architecture and evolution

…, K Nakano, S Mottagui-Tabar, P Arner, A Chesi… - Nature …, 2006 - nature.com
Mammalian promoters can be separated into two classes, conserved TATA box–enriched
promoters, which initiate at a well-defined site, and more plastic, broad and evolvable CpG-…

[HTML][HTML] A saturated map of common genetic variants associated with human height

…, X Chai, LC Chang, YC Chang, CH Chen, A Chesi… - Nature, 2022 - nature.com
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50%
of phenotypic variation in human height, but identifying the specific variants and …

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

…, AG Day-Williams, JF Staropoli, WW Xin, A Chesi… - Science, 2015 - science.org
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …

α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

AD Gitler, A Chesi, ML Geddie, KE Strathearn… - Nature …, 2009 - nature.com
Parkinson's disease (PD), dementia with Lewy bodies and multiple system atrophy, collectively
referred to as synucleinopathies, are associated with a diverse group of genetic and …

[PDF][PDF] Genome-wide analyses identify KIF5A as a novel ALS gene

…, RS Bedlack, BE Boone, R Brown, JP Carulli, A Chesi… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls…

[HTML][HTML] Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS

Z Sun, Z Diaz, X Fang, MP Hart, A Chesi, J Shorter… - PLoS …, 2011 - journals.plos.org
TDP-43 and FUS are RNA-binding proteins that form cytoplasmic inclusions in some forms
of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). …

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

…, E Stergiakouli, A Chesi… - Human molecular …, 2016 - academic.oup.com
A large number of genetic loci are associated with adult body mass index. However, the
genetics of childhood body mass index are largely unknown. We performed a meta-analysis of …

[PDF][PDF] Life-course genome-wide association study meta-analysis of total body BMD and assessment of age-specific effects

…, JP Kemp, K Trajanoska, J Luan, A Chesi… - The American Journal of …, 2018 - cell.com
Bone mineral density (BMD) assessed by DXA is used to evaluate bone health. In children,
total body (TB) measurements are commonly used; in older individuals, BMD at the lumbar …

[HTML][HTML] CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

…, N Farrawell, C Vance, X Hu, A Chesi… - Nature …, 2016 - nature.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal
neurodegenerative disorders in which the molecular and pathogenic basis remains poorly …

Infant BMI or weight-for-length and obesity risk in early childhood

SM Roy, JG Spivack, MS Faith, A Chesi… - …, 2016 - publications.aap.org
BACKGROUND: Weight-for-length (WFL) is currently used to assess adiposity under 2 years.
We assessed WFL-versus BMI-based estimates of adiposity in healthy infants in …