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Pastinen, Tomi

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Dr. Pastinen has been the Director of the Center for Pediatric Genomic Medicine (CPGM) since 2017. Dr. Pastinen joined Children's Mercy from McGill University. He held the Canada Research Chair from 2007 to 2017 and has a significant track record of academic achievement. He has authored over 120 peer-reviewed publications, including papers in top-tier journals Cell and Nature Genetics. Prior to joining Children’s Mercy, he led the epigenome mapping center at McGill as part of the International Human Epigenome Consortium, which provides maps of genome function to the global research community. Dr. Pastinen is leading Genomic Answers for Kids, a foundational initiative for future genomic research at Children’s Mercy that aims to learn from 30,000 children with genetic conditions.

One or more keywords matched the following items that are connected to Pastinen, Tomi

Item Type	Name
Concept	Age Factors
Concept	Chromosomes, Human
Concept	Chromosomes, Human, Pair 11
Concept	Chromosomes, Human, Pair 14
Concept	Chromosomes, Human, Pair 17
Concept	Chromosomes, Human, Pair 19
Concept	Chromosomes, Human, Pair 22
Concept	Chromosomes, Human, Pair 3
Concept	Chromosomes, Human, Pair 4
Concept	Chromosomes, Human, Pair 5
Concept	Chromosomes, Human, Pair 8
Concept	Chromosomes, Human, Pair 9
Concept	Humans
Concept	Milk, Human
Concept	Risk Factors
Concept	Sex Factors
Concept	Time Factors
Concept	Transcription Factors
Concept	Genome, Human
Concept	Human Genome Project
Concept	Herpesvirus 1, Human
Concept	Human Growth Hormone
Concept	Transcriptional Elongation Factors
Concept	Chromosomes, Human, X
Concept	Interferon Regulatory Factors
Concept	Paired Box Transcription Factors
Concept	Basic Helix-Loop-Helix Transcription Factors
Academic Article	Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation.
Academic Article	Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.
Academic Article	Immune system genes in multiple sclerosis: genetic association and linkage analyses on TCR beta, IGH, IFN-gamma and IL-1ra/IL-1 beta loci.
Academic Article	Golli-MBP gene in multiple sclerosis susceptibility.
Academic Article	Contribution of the CCR5 and MBL genes to susceptibility to HIV type 1 infection in the Finnish population.
Academic Article	Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population.
Academic Article	A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.
Academic Article	Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays.
Academic Article	Dissecting a population genome for targeted screening of disease mutations.
Academic Article	HLA class II associated risk and protection against multiple sclerosis-a Finnish family study.
Academic Article	Chromosome 19q13 and multiple sclerosis susceptibility in Finland: a linkage and two-stage association study.
Academic Article	Folate intake, plasma folate and homocysteine status in a random Finnish population.
Academic Article	Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiple sclerosis.
Academic Article	A survey of genetic and epigenetic variation affecting human gene expression.
Academic Article	Cis-acting regulatory variation in the human genome.
Academic Article	The effect of polymorphisms in the enhancer of split gene complex on bristle number variation in a large wild-caught cohort of Drosophila melanogaster.
Academic Article	Survey of allelic expression using EST mining.
Academic Article	Mapping common regulatory variants to human haplotypes.
Academic Article	Influence of human genome polymorphism on gene expression.
Academic Article	Association study between the CX3CR1 gene and asthma.
Academic Article	Patterns of variation in DNA segments upstream of transcription start sites.
Academic Article	Vitamin D receptor 3' haplotypes are unequally expressed in primary human bone cells and associated with increased fracture risk: the MrOS Study in Sweden and Hong Kong.
Academic Article	Systematic assessment of the human osteoblast transcriptome in resting and induced primary cells.
Academic Article	Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.
Academic Article	A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.
Academic Article	Targeted screening of cis-regulatory variation in human haplotypes.
Academic Article	Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.
Academic Article	Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Academic Article	Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro.
Academic Article	Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
Academic Article	A probabilistic approach for SNP discovery in high-throughput human resequencing data.
Academic Article	Population genomics in a disease targeted primary cell model.
Academic Article	Tissue effect on genetic control of transcript isoform variation.
Academic Article	Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.
Academic Article	A cis-acting regulatory variant in the IL2RA locus.
Academic Article	Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
Academic Article	Global patterns of cis variation in human cells revealed by high-density allelic expression analysis.
Academic Article	A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.
Academic Article	Cell culture-induced aberrant methylation of the imprinted IG DMR in human lymphoblastoid cell lines.
Academic Article	Analysis of the impact of genetic variation on human gene expression.
Academic Article	An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
Academic Article	Genome-wide allele-specific analysis: insights into regulatory variation.
Academic Article	Computational analysis of whole-genome differential allelic expression data in human.
Academic Article	Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.
Academic Article	Fine mapping of the insulin-induced gene 2 identifies a variant associated with LDL cholesterol and total apolipoprotein B levels.
Academic Article	Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Academic Article	The study of eQTL variations by RNA-seq: from SNPs to phenotypes.
Academic Article	RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression.
Academic Article	Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.
Academic Article	Global analysis of the impact of environmental perturbation on cis-regulation of gene expression.
Academic Article	Genome-wide assessment of imprinted expression in human cells.
Academic Article	Phosphodiesterase type 4D gene polymorphism: association with the response to short-acting bronchodilators in paediatric asthma patients.
Academic Article	Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
Academic Article	Human genetics in full resolution.
Academic Article	Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines.
Academic Article	Use of genome-wide association studies for drug repositioning.
Academic Article	Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Academic Article	Promoter polymorphisms in CHI3L1 are associated with asthma.
Academic Article	Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.
Academic Article	Assessment of gene-by-sex interaction effect on bone mineral density.
Academic Article	Large-scale association analysis identifies new risk loci for coronary artery disease.
Academic Article	Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression.
Academic Article	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Academic Article	Genome-wide association study of age at menarche in African-American women.
Academic Article	Integration of high-resolution methylome and transcriptome analyses to dissect epigenomic changes in childhood acute lymphoblastic leukemia.
Academic Article	Genome-wide search for exonic variants affecting translational efficiency.
Academic Article	Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia.
Academic Article	Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome.
Academic Article	Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR.
Academic Article	Genetic implication of a novel thiamine transporter in human hypertension.
Academic Article	The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts.
Academic Article	Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.
Academic Article	Interrogation of allelic chromatin states in human cells by high-density ChIP-genotyping.
Academic Article	Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Academic Article	Transient DNMT1 suppression reveals hidden heritable marks in the genome.
Academic Article	An epigenome-wide association study of total serum immunoglobulin E concentration.
Academic Article	Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci.
Academic Article	Novel approaches to discovery of biomarkers in rheumatoid arthritis: comment on the article by Oswald et al.
Academic Article	Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.
Academic Article	Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.
Academic Article	TCF12 is mutated in anaplastic oligodendroglioma.
Academic Article	Global miRNA expression and correlation with mRNA levels in primary human bone cells.
Academic Article	Epigenome data release: a participant-centered approach to privacy protection.
Academic Article	High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism.
Academic Article	Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Academic Article	Bacterial infection remodels the DNA methylation landscape of human dendritic cells.
Academic Article	funtooNorm: an R package for normalization of DNA methylation data when there are multiple cell or tissue types.
Academic Article	Exome and regulatory element sequencing of neuromyelitis optica patients.
Academic Article	Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation.
Academic Article	DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis.
Academic Article	Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing.
Academic Article	An evaluation of methods correcting for cell-type heterogeneity in DNA methylation studies.
Academic Article	Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Academic Article	DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands.
Academic Article	Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.
Academic Article	Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
Academic Article	Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Academic Article	Optimizing ChIP-seq peak detectors using visual labels and supervised machine learning.
Academic Article	Are Data Sharing and Privacy Protection Mutually Exclusive?
Academic Article	Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.
Academic Article	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Academic Article	The International Human Epigenome Consortium Data Portal.
Academic Article	Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.
Academic Article	Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types.
Academic Article	Combining omics data to identify genes associated with allergic rhinitis.
Academic Article	Conserved expression of transposon-derived non-coding transcripts in primate stem cells.
Academic Article	Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.
Academic Article	Novel insights into systemic autoimmune rheumatic diseases using shared molecular signatures and an integrative analysis.
Academic Article	Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Academic Article	Pitx1 directly modulates the core limb development program to implement hindlimb identity.
Academic Article	Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism.
Academic Article	APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Academic Article	Accuracy of Programs for the Determination of Human Leukocyte Antigen Alleles from Next-Generation Sequencing Data.
Academic Article	Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Academic Article	Hidden genomic MHC disparity between HLA-matched sibling pairs in hematopoietic stem cell transplantation.
Academic Article	Genomic prediction of relapse in recipients of allogeneic haematopoietic stem cell transplantation.
Academic Article	A hidden markov model for identifying differentially methylated sites in bisulfite sequencing data.
Academic Article	Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
Academic Article	Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.
Academic Article	Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.
Academic Article	Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements.
Academic Article	Very long intergenic non-coding RNA transcripts and expression profiles are associated to specific childhood acute lymphoblastic leukemia subtypes.
Academic Article	H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis.
Academic Article	Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.
Academic Article	Points-to-consider on the return of results in epigenetic research.
Academic Article	Integrative analysis of vascular endothelial cell genomic features identifies AIDA as a coronary artery disease candidate gene.
Academic Article	Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing.
Academic Article	Computational Analysis of HLA-presentation of Non-synonymous Recipient Mismatches Indicates Effect on the Risk of Chronic Graft-vs.-Host Disease After Allogeneic HSCT.
Academic Article	Customized MethylC-Capture Sequencing to Evaluate Variation in the Human Sperm DNA Methylome Representative of Altered Folate Metabolism.
Academic Article	Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes.
Academic Article	Single-cell analysis of human adipose tissue identifies depot and disease specific cell types.
Academic Article	Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in na?ve CD4+ T cells.
Academic Article	A novel statistical method for modeling covariate effects in bisulfite sequencing derived measures of DNA methylation.
Academic Article	Personalized and graph genomes reveal missing signal in epigenomic data.
Academic Article	Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells.
Academic Article	Eosinophil microRNAs Play a Regulatory Role in Allergic Diseases Included in the Atopic March.
Academic Article	High-resolution analyses of human sperm dynamic methylome reveal thousands of novel age-related epigenetic alterations.
Academic Article	Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections.
Academic Article	Non-CG methylation and multiple histone profiles associate child abuse with immune and small GTPase dysregulation.
Academic Article	Antibody Responses after a Single Dose of SARS-CoV-2 mRNA Vaccine.
Academic Article	Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease.
Academic Article	Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Academic Article	Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.
Academic Article	Immune cell residency in the nasal mucosa may partially explain respiratory disease severity across the age range.
Academic Article	The Impact of Prior Infection and Age on Antibody Persistence After Severe Acute Respiratory Syndrome Coronavirus 2 Messenger RNA Vaccine.
Academic Article	Thousands of CpGs Show DNA Methylation Differences in ACPA-Positive Individuals.
Academic Article	HLA-B07:02 and HLA-C07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure.
Academic Article	Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Academic Article	Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Academic Article	Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.
Academic Article	Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature.
Academic Article	The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century.
Academic Article	X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Academic Article	Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Academic Article	Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Academic Article	IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection.
Academic Article	Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Academic Article	Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment.
Academic Article	The cellular and immunological dynamics of early and transitional human milk.
Academic Article	Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Academic Article	Genome graphs detect human polymorphisms in active epigenomic state during influenza infection.
Academic Article	Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Academic Article	Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Academic Article	Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository.
Academic Article	Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Academic Article	A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Academic Article	Pangenome graphs improve the analysis of structural variants in rare genetic diseases.

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