User profiles for Alessandra Chesi
Alessandra ChesiUniversity of Pennsylvania Verified email at pennmedicine.upenn.edu Cited by 8266 |
Genome-wide analysis of mammalian promoter architecture and evolution
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-…
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 …
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 …
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
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 …
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…
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
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). …
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 …
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
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 …
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
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal
neurodegenerative disorders in which the molecular and pathogenic basis remains poorly …
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 …
We assessed WFL-versus BMI-based estimates of adiposity in healthy infants in …