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Author Details

Alessandra Chesi
Center for Spatial and Functional Genomics, The Children's Hospital of Philadelphia
2006
65
28
PMIDPaper TitleJournal TitlePublished Year
376936063D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity.medRxiv2024
36608130Variant-to-gene mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as a regulator of sleep.Sci Adv2023
37662342Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of <i>FAIM2</i>.bioRxiv2023
37645863Perturbation of the insomnia <i>WDR90</i> GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, <i>PIG-Q</i>.bioRxiv2023
37732211Defining RNA oligonucleotides that reverse deleterious phase transitions of RNA-binding proteins with prion-like domains.bioRxiv2023
37402774Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.Commun Biol2023
34978147Identifying differential regulatory control of APOE É¿4 on African versus European haplotypes as potential therapeutic targets.Alzheimers Dement2022
35537191Variant-to-gene-mapping analyses reveal a role for pancreatic islet cells in conferring genetic susceptibility to sleep-related traits.Sleep2022
35659055Implicating effector genes at COVID-19 GWAS loci using promoter-focused Capture-C in disease-relevant immune cell types.Genome Biol2022
32386398Genetic potential and height velocity during childhood and adolescence do not fully account for shorter stature in cystic fibrosis.Pediatr Res2021
335452323D promoter architecture re-organization during iPSC-derived neuronal cell differentiation implicates target genes for neurodevelopmental disorders.Prog Neurobiol2021
33713608Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.Am J Hum Genet2021
34754074CYP11B1 variants influence skeletal maturation via alternative splicing.Commun Biol2021
34799566Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits.Nat Commun2021
34532616CRISPR-Cas9-Mediated Genome Editing Confirms <i>EPDR1</i> as an Effector Gene at the BMD GWAS-Implicated '<i>STARD3NL</i>' Locus.JBMR Plus2021
34343493A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR.Am J Hum Genet2021
33459256Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci.Elife2021
33249669A Meta-Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations.J Bone Miner Res2021
33397451Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual.Genome Biol2021
33069917Variant-to-Gene-Mapping Analyses Reveal a Role for the Hypothalamus in Genetic Susceptibility to Inflammatory Bowel Disease.Cell Mol Gastroenterol Hepatol2021
32535942Canonical Notch signaling is required for bone morphogenetic protein-mediated human osteoblast differentiation.Stem Cells2020
31843946Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC.Diabetes Care2020
31953354IL-1 Transcriptional Responses to Lipopolysaccharides Are Regulated by a Complex of RNA Binding Proteins.J Immunol2020
33045005Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.PLoS Genet2020
32620744Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells.Nat Commun2020
30890710Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density.Nat Commun2019
30811542Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.J Clin Endocrinol Metab2019
30711642Postmenopausal osteoporotic fracture-associated COLIA1 variant impacts bone accretion in girls.Bone2019
29068475Genetically Determined Later Puberty Impacts Lowered Bone Mineral Density in Childhood and Adulthood.J Bone Miner Res2018
30254083First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.Diabetes Care2018
29465475Physical Activity and Bone Accretion: Isotemporal Modeling and Genetic Interactions.Med Sci Sports Exerc2018
29797095Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS.Hum Genet2018
29304378Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.Am J Hum Genet2018
29325163Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.J Clin Endocrinol Metab2018
29218913Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS.Pac Symp Biocomput2018
29240982Multidimensional Bone Density Phenotyping Reveals New Insights Into Genetic Regulation of the Pediatric Skeleton.J Bone Miner Res2018
27419386Relative Skeletal Maturation and Population Ancestry in Nonobese Children and Adolescents.J Bone Miner Res2017
28438156Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes.BMC Med2017
28430825Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.PLoS Genet2017
28181694A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.J Bone Miner Res2017
29056226A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression.Am J Hum Genet2017
28672287Association Between Linear Growth and Bone Accrual in a Diverse Cohort of Children and Adolescents.JAMA Pediatr2017
28743860Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.Nat Commun2017
26970088Rare EN1 Variants and Pediatric Bone Mass.J Bone Miner Res2016
26572781Genetic Risk Scores Implicated in Adult Bone Fragility Associate With Pediatric Bone Density.J Bone Miner Res2016
26604143Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.Hum Mol Genet2016
27539148The type 2 diabetes presumed causal variant within TCF7L2 resides in an element that controls the expression of ACSL5.Diabetologia2016
27172274Physical Activity Benefits the Skeleton of Children Genetically Predisposed to Lower Bone Density in Adulthood.J Bone Miner Res2016
27579163Genetics of pediatric bone strength.Bonekey Rep2016
27244803Infant BMI or Weight-for-Length and Obesity Risk in Early Childhood.Pediatrics2016
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Collaborators

Struan F A Grant
Center for Spatial and Functional Genomics, The Children's Hospital of Philadelphia
Co-authored papers 54
Babette S Zemel
Children's Hospital of Philadelphia
Co-authored papers 28
Diana L Cousminer
Children's Hospital of Philadelphia
Co-authored papers 20
Andrea Kelly
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Co-authored papers 19
Shana E McCormack
The Children's Hospital of Philadelphia Division of Endocrinology and Diabetes
Co-authored papers 18
Jonathan A Mitchell
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 18
Vicente Gilsanz
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Co-authored papers 16
John A Shepherd
University of Hawaii Cancer Center
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Sharon E Oberfield
Columbia University Medical Center
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Joan M Lappe
Creighton University Medical Center
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Andrew D Wells
Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia
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Heidi J Kalkwarf
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Matthew E Johnson
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James A Pippin
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Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
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Matthew C Pahl
Center for Spatial and Functional Genomics, The Children's Hospital of Philadelphia
Co-authored papers 12
Jonathan P Bradfield
Co-authored papers 11
Sumei Lu
China National Center for Biotechnology Development
Co-authored papers 11
Michelle E Leonard
The Children's Hospital of Philadelphia
Co-authored papers 10
Aaron D Gitler
Stanford University School of Medicine
Co-authored papers 8
Fernando Rivadeneira
University Medical Center Rotterdam
Co-authored papers 7
Andr?? G Uitterlinden
Erasmus University Medical Center
Co-authored papers 7
Benjamin F Voight
Perelman School of Medicine, University of Pennsylvania
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Elisabetta Manduchi
Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia
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Yadav Wagley
Department of Orthopedic Surgery University of Michigan Medical School Ann Arbor
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Tamara B Harris
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Kurt D Hankenson
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