Center for Spatial and Functional Genomics Publications

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Below is a list of selected publications from the Center for Spatial and Functional Genomics.

1 - 76 of 76

2023

Integrative Genomic Analyses Identify LncRNA Regulatory Networks across Pediatric Leukemias and Solid Tumors
Cancer Res · October, 2023
Reference ranges for body composition indices by dual energy X-ray absorptiometry from the Bone Mineral Density in Childhood Study Cohort
Am J Clin Nutr · October, 2023
Utility of genetic risk scores in type 1 diabetes
Diabetologia · September, 2023
Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms
Nat Commun · September, 2023
Keeping It in the Family: Consanguinity Reveals P4HTM as a Novel Syndromic Obesity Gene
Diabetes · September, 2023
Genome-wide association studies and fine-mapping identify genomic loci for n-3 and n-6 polyunsaturated fatty acids in Hispanic American and African American cohorts
Commun Biol · August, 2023
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis
Commun Biol · July, 2023
Technologies, strategies, and cautions when deconvoluting genome-wide association signals: FTO in focus
Obes Rev · May, 2023
Pleiotropic effects of a high confidence Autism Spectrum Disorder gene, arid1b, on zebrafish sleep
Neurobiol Sleep Circadian Rhythms · May, 2023
Genetic effects on the timing of parturition and links to fetal birth weight
Nat Genet · April, 2023
Awakening new sleep biology with machine learning
Sleep · February, 2023
Human height: a model common complex trait
Ann Hum Biol · February, 2023
Patient-derived Colonoids From Disease-spared Tissue Retain Inflammatory Bowel Disease-specific Transcriptomic Signatures
Gastro Hep Adv · January, 2023
Variant-to-gene mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as a regulator of sleep
Sci Adv · January, 2023

2022

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Genome Biology · December, 2022
Strategies to identify causal common genetic variants and corresponding effector genes for paediatric obesity
Pediatric Obesity · December, 2022
Zebrafish screen of high-confidence effector genes at insomnia GWAS loci implicates conserved regulators of sleep-wake behaviors
bioRxiv · November, 2022
Leveraging genetic discoveries for sleep to determine causal relationships with common complex traits
Sleep · October, 2022
A saturated map of common genetic variants associated with human height
Nature · October, 2022
Identifying differential regulatory control of APOE ɛ4 on African versus European haplotypes as potential therapeutic targets
Alzheimer's & Dementia : The Journal Of The Alzheimer's Association · October, 2022
3D chromatin maps of the human pancreas reveal lineage-specific regulatory architecture of T2D risk
Cell Metabolism · September, 2022
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
American Journal Of Human Genetics · August, 2022
Variant-to-gene-mapping analyses reveal a role for pancreatic islet cells in conferring genetic susceptibility to sleep-related traits
Sleep · August, 2022
Implicating effector genes at COVID-19 GWAS loci using promoter-focused Capture-C in disease-relevant immune cell types
Genome Biol · June, 2022
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
Nat Genet · June, 2022
Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes
BMC Medical Genomics · June, 2022
Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium
HGG Advances · April, 2022
New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature Genetics · April, 2022
Using linear and natural cubic splines, SITAR, and latent trajectory models to characterise nonlinear longitudinal growth trajectories in cohort studies
BMC Medical Research Methodology · March, 2022

2021

The power of genetic diversity in genome-wide association studies of lipids
Nature · December, 2021
Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits
Nat Commun · November, 2021
CYP11B1 variants influence skeletal maturation via alternative splicing
Communications Biology · November, 2021
Restriction enzyme selection dictates detection range sensitivity in chromatin conformation capture-based variant-to-gene mapping approaches
Hum Genet · October, 2021
Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy
Genes · September, 2021
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 Genet · September, 2021
CRISPR-Cas9-Mediated Genome Editing Confirms EPDR1 as an Effector Gene at the BMD GWAS-Implicated 'STARD3NL' Locus
JBMR Plus · July, 2021
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
J Exp Med · July, 2021
Identification of 22 susceptibility loci associated with testicular germ cell tumors
Nat Commun · July, 2021
3D promoter architecture re-organization during iPSC-derived neuronal cell differentiation implicates target genes for neurodevelopmental disorders
Prog Neurobiol · June, 2021
Large trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche
Human Reproduction (Oxford, England) · June, 2021
Colorectal Cancer-Associated Smad4 R361 Hotspot Mutations Boost Wnt/β-Catenin Signaling through Enhanced Smad4-LEF1 Binding
Molecular Cancer Research : MCR · May, 2021
Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual
Genome Biol · January, 2021
Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci
Elife · January, 2021
Variant-to-Gene-Mapping Analyses Reveal a Role for the Hypothalamus in Genetic Susceptibility to Inflammatory Bowel Disease
Cell Mol Gastroenterol Hepatol · January, 2021

2020

Genetic Determinants of Childhood Obesity
Molecular Diagnosis & Therapy · December, 2020
Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells
Nat Commun · July, 2020
Integrative genomics identifies lncRNA regulatory networks across 1,044 pediatric leukemias and extra-cranial solid tumors
bioRxiv · April, 2020

2019

Intersections and Clinical Translations of Diabetes Mellitus with Cancer Promotion, Progression and Prognosis
Postgraduate Medicine · November, 2019
The Genetic Contribution to Type 1 Diabetes
Current Diabetes Reports · November, 2019
Associations of autozygosity with a broad range of human phenotypes
Nature Communications · October, 2019
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity
Human Molecular Genetics · October, 2019
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration
Nature Communications · September, 2019
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI
Science Advances · September, 2019
The TCF7L2 Locus: A Genetic Window Into the Pathogenesis of Type 1 and Type 2 Diabetes
Diabetes Care · August, 2019
Childhood sleep duration modifies the polygenic risk for obesity in youth through leptin pathway: the Beijing Child and Adolescent Metabolic Syndrome cohort study
International Journal Of Obesity (2005) · August, 2019
Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver
Am J Hum Genet · July, 2019
T follicular helper cells in human efferent lymph retain lymphoid characteristics
The Journal Of Clinical Investigation · July, 2019
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
Nature Genetics · May, 2019
Postmenopausal osteoporotic fracture-associated COLIA1 variant impacts bone accretion in girls
Bone · April, 2019
Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density
Nat Commun · March, 2019

2018

Author Correction: Public resources aid diabetes gene discovery
Nature Genetics · December, 2018
Distinct Regulation of Th17 and Th1 Cell Differentiation by Glutaminase-Dependent Metabolism
Cell · December, 2018
First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes
Diabetes Care · November, 2018
Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS
Human Genetics · May, 2018
The Loss of TET2 Promotes CD8(+) T Cell Memory Differentiation
Journal Of Immunology (Baltimore, Md. : 1950) · January, 2018

2017

Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS
Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing · December, 2017
Implicating candidate genes at GWAS signals by leveraging topologically associating domains
European Journal Of Human Genetics : EJHG · November, 2017
A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression
Am J Hum Genet · November, 2017
Antagonism of B cell enhancer networks by STAT5 drives leukemia and poor patient survival
Nature Immunology · June, 2017
Ndfip1 restricts mTORC1 signalling and glycolysis in regulatory T cells to prevent autoinflammatory disease
Nat Commun · May, 2017

2016

Foxp3 and Toll-like receptor signaling balance T(reg) cell anabolic metabolism for suppression
Nature Immunology · December, 2016
The type 2 diabetes presumed causal variant within TCF7L2 resides in an element that controls the expression of ACSL5
Diabetologia · November, 2016

2015

Long-Range Transcriptional Control of the Il2 Gene by an Intergenic Enhancer
Molecular And Cellular Biology · November, 2015
DNA binding by FOXP3 domain-swapped dimer suggests mechanisms of long-range chromosomal interactions
Nucleic Acids Research · January, 2015

2014

A ChIP-seq-defined genome-wide map of MEF2C binding reveals inflammatory pathways associated with its role in bone density determination
Calcified Tissue International · April, 2014

2013

Two novel type 2 diabetes loci revealed through integration of TCF7L2 DNA occupancy and SNP association data
BMJ Open Diabetes Research & Care · December, 2013