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Genetics

D-Index
75
Citations
29268
World Ranking
1879
National Ranking
862

Overview

Tomi Pastinen is affiliated with Children's Mercy Hospital in the United States and has a research focus encompassing biochemistry, genetics, and molecular biology, with significant contributions in medicine. Their work covers extensive areas including molecular biology, genetics, immunology, cancer research, and epidemiology.

Their research spans several main topics, notably genomics and rare diseases, epigenetics and DNA methylation, genomic variations and chromosomal abnormalities, RNA modifications and cancer, cancer genomics and diagnostics, genomics and phylogenetic studies, as well as genetic associations and epidemiology.

Pastinen has contributed to numerous publications across prominent scientific venues. Frequent publication outlets include bioRxiv (Cold Spring Harbor Laboratory), Cancer Research, Genetics in Medicine, Nature Communications, and Genetics in Medicine Open.

Their recent papers include:

  • Antibody Responses after a Single Dose of SARS-CoV-2 mRNA Vaccine, 2021, New England Journal of Medicine
  • Characterization and Visualization of Tandem Repeats at Genome Scale, 2024, Nature Biotechnology
  • Genomic Answers for Children: Dynamic Analyses of >1000 Pediatric Rare Disease Genomes, 2022, Genetics in Medicine
  • Genetic Perturbation of PU.1 Binding and Chromatin Looping at Neutrophil Enhancers Associates with Autoimmune Disease, 2021, Nature Communications
  • Genetic Associations at Regulatory Phenotypes Improve Fine-Mapping of Causal Variants for 12 Immune-Mediated Diseases, 2022, Nature Genetics

Frequent coauthors collaborating with Pastinen include Isabelle Thiffault, Warren Cheung, Emily Farrow, Ana S.A. Cohen, and Byunggil Yoo.

Best Publications

  • Hundreds of variants clustered in genomic loci and biological pathways affect human height

    Hana Lango Allen;Karol Estrada;Guillaume Lettre;Sonja I. Berndt

  • Large-scale association analysis identifies new risk loci for coronary artery disease

    Panos Deloukas;Stavroula Kanoni;Christina Willenborg;Martin Farrall

  • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

    William J. Astle;Heather Elding;Heather Elding;Tao Jiang;Dave Allen

  • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

    Karol Estrada;Unnur Styrkarsdottir;Evangelos Evangelou;Yi-Hsiang Hsu

  • Bone mineral density, osteoporosis, and osteoporotic fractures : a genome-wide association study

    J.B. Richards;F. Rivadeneira;M. Inouye;T.M. Pastinen

  • Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

    Lu Chen;Lu Chen;Bing Ge;Francesco Paolo Casale;Louella Vasquez

  • Twenty bone mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

    Fernando Rivadeneira;Unnur Styrkarsdottir;Karol Estrada;Bjarni V. Halldorsson

  • A System for Specific, High-throughput Genotyping by Allele-specific Primer Extension on Microarrays

    Tomi Pastinen;Mirja Raitio;Katarina Mercedes Lindroos;Päivi Tainola

  • Minisequencing: A Specific Tool for DNA Analysis and Diagnostics on Oligonucleotide Arrays

    Tomi Pastinen;Ants Kurg;Andres Metspalu;Leena Peltonen

  • The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery

    Hendrik G. Stunnenberg;Martin Hirst

  • Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

    Hou Feng Zheng;Vincenzo Forgetta;Yi Hsiang Hsu;Yi Hsiang Hsu;Karol Estrada

  • The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts.

    James R Wagner;Stephan Busche;Bing Ge;Tony Kwan

  • Use of genome-wide association studies for drug repositioning.

    Philippe Sanseau;Pankaj Agarwal;Michael R Barnes;Michael R Barnes;Tomi Pastinen

  • Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia

    Jessica Nordlund;Christofer L Bäcklin;Per Wahlberg;Stephan Busche

  • Genome-wide allele-specific analysis: insights into regulatory variation

    Tomi Pastinen

  • Cis-acting regulatory variation in the human genome.

    Tomi Pastinen;Thomas J. Hudson

  • Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

    Fergus J. Couch;Xianshu Wang;Lesley McGuffog;Andrew Lee

  • Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease

    Dominique J. Verlaan;Soizik Berlivet;Gary M. Hunninghake;Anne-Marie Madore;Anne-Marie Madore

  • A survey of genetic and epigenetic variation affecting human gene expression.

    Tomi Pastinen;Robert Sladek;Scott Gurd;Alya’a Sammak

  • Hundreds of variants clustered in genomic loci and biological pathways affect human height

    H. Lango Allen;K. Estrada;G. Lettre;S. I. Berndt

Frequent Co-Authors

Elin Grundberg
Elin Grundberg Children's Mercy Hospital
Nicole Soranzo
Nicole Soranzo Wellcome Sanger Institute
Guillaume Bourque
Guillaume Bourque McGill University
Scott G. Wilson
Scott G. Wilson University of Western Australia
Thomas J. Hudson
Thomas J. Hudson Ontario Institute for Cancer Research
Willem H. Ouwehand
Willem H. Ouwehand University of Cambridge
Ann-Christine Syvänen
Ann-Christine Syvänen Uppsala University
Tim D. Spector
Tim D. Spector King's College London
Daniel Sinnett
Daniel Sinnett University of Montreal
J. Brent Richards
J. Brent Richards McGill University

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