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Molecular Biology

D-Index
45
Citations
34037
World Ranking
2825
National Ranking
1352

Overview

Michael O. Dorschner is affiliated with the University of Washington in the United States. Their scholarly work primarily spans the fields of biochemistry, genetics, and molecular biology, with a significant focus on medicine. The scientist's research encompasses various subfields such as genetics, molecular biology, neurology, public health, environmental and occupational health, and cardiology and cardiovascular medicine.

Key topics of interest in their research include genomics and rare diseases, BRCA gene mutations in cancer, cancer genomics and diagnostics, genetics and neurodevelopmental disorders, ethics in clinical research, autism spectrum disorder research, and CRISPR and genetic engineering.

Michael O. Dorschner has contributed to several academic papers, including:

  • Variant Interpretation for Dilated Cardiomyopathy, 2020, Circulation Genomic and Precision Medicine
  • Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies, 2020, The American Journal of Human Genetics
  • Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer, 2024, Annals of Oncology
  • Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain, 2020, Frontiers in Immunology
  • Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations, 2021, Contemporary Clinical Trials

The scientist frequently collaborates with several coauthors, most notably Gail P. Jarvik, Laura M. Amendola, Bradley A. Rolf, Katrina A.B. Goddard, and Benjamin S. Wilfond.

Michael O. Dorschner's work appears regularly in various publication venues such as UNC Libraries, Genetics in Medicine, Contemporary Clinical Trials, Journal of the American Heart Association, and bioRxiv (Cold Spring Harbor Laboratory).

Best Publications

  • Comprehensive mapping of long-range interactions reveals folding principles of the human genome.

    Erez Lieberman-Aiden;Nynke L. van Berkum;Louise Williams;Maxim Imakaev

  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

    Ewan Birney;John A. Stamatoyannopoulos;Anindya Dutta;Roderic Guigó

  • The ENCODE (ENCyclopedia of DNA elements) Project

    E. A. Feingold;P. J. Good;M. S. Guyer;S. Kamholz

  • The accessible chromatin landscape of the human genome

    Robert E. Thurman;Eric Rynes;Richard Humbert;Jeff Vierstra

  • An integrated encyclopedia of DNA elements in the human genome

    Ian Dunham;Anshul Kundaje;Shelley F. Aldred;Patrick J. Collins

  • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Gemma L Carvill;Sinéad B Heavin;Simone C Yendle;Jacinta M McMahon

  • Sequencing newly replicated DNA reveals widespread plasticity in human replication timing

    R. Scott Hansen;Sean Thomas;Richard Sandstrom;Theresa K. Canfield

  • Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

    Laura M. Amendola;Gail P. Jarvik;Michael C. Leo;Heather M. McLaughlin

  • Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

    Michael O. Dorschner;Laura M. Amendola;Emily H. Turner;Peggy D. Robertson

  • Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gamma.

    Jamie R Schoenborn;Michael O Dorschner;Masayuki Sekimata;Deanna M Santer

  • Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays

    Peter J Sabo;Michael S Kuehn;Robert Thurman;Brett E Johnson

  • Actionable exomic incidental findings in 6503 participants: challenges of variant classification

    Laura M. Amendola;Michael O. Dorschner;Peggy D. Robertson;Joseph S. Salama

  • Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

    Ghayda M. Mirzaa;Ghayda M. Mirzaa;Catarina D. Campbell;Nadia Solovieff;Carleton P. Goold

  • CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

    Nicholas T. Gorden;Heleen H. Arts;Melissa A. Parisi;Karlien L.M. Coene

  • NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

    Michael O. Dorschner;Virginia P. Sybert;Molly Weaver;Beth A. Pletcher

  • Recombination hotspot in NF1 microdeletion patients

    Catalina López-Correa;Michael Dorschner;Hilde Brems;Conxi Lázaro

  • CCCTC-Binding Factor and the Transcription Factor T-bet Orchestrate T Helper 1 Cell-Specific Structure and Function at the Interferon-γ Locus

    Masayuki Sekimata;Mercedes Pérez-Melgosa;Sara A. Miller;Amy S. Weinmann

  • Discovery of functional noncoding elements by digital analysis of chromatin structure

    Peter J. Sabo;Michael Hawrylycz;James C. Wallace;Richard Humbert

  • Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

    Robert C. Green;Robert C. Green;Katrina A.B. Goddard;Gail P. Jarvik;Laura M. Amendola

  • Genome-wide identification of DNaseI hypersensitive sites using active chromatin sequence libraries.

    Peter J. Sabo;Richard Humbert;Michael Hawrylycz;James C. Wallace

Frequent Co-Authors

Gail P. Jarvik
Gail P. Jarvik University of Washington
Heidi L. Rehm
Heidi L. Rehm Brigham and Women's Hospital
Thomas D. Bird
Thomas D. Bird University of Washington
John A. Stamatoyannopoulos
John A. Stamatoyannopoulos University of Washington
Deborah A. Nickerson
Deborah A. Nickerson University of Washington
Wendy H. Raskind
Wendy H. Raskind University of Washington
Benjamin S. Wilfond
Benjamin S. Wilfond University of Washington
William Stafford Noble
William Stafford Noble University of Washington
Peter H. Byers
Peter H. Byers University of Washington
Wylie Burke
Wylie Burke University of Washington

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