Current Environment: Production

Medical Services

Specialties

Programs & Services

Languages

  • English

Education

Graduate School

Department of Genome Sciences

University of Washington

Seattle, WA

Medical School

University of Washington School of Medicine

Seattle, WA

Internship

Pediatrics

Boston Combined Residency Program (BCRP)

Boston, MA

Residency

Pediatrics/Medical Genetics

Boston Combined Residency Program (BCRP)

Boston, MA

Certifications

  • American Board of Medical Genetics and Genomics (Clinical Genetics)
  • American Board of Pediatrics (General)

Professional History

Dr. Michael Duyzend is an attending physician in the Division of Genetics and Genomics, with a special interest in prenatal and neonatal genetics. His research focuses on understanding genetics across the developmental continuum, from conception through infancy, and the development of methods to track and analyze genetic and clinical data longitudinally through this period. Dr. Duyzend strives to utilize genomic medicine in an expeditious, effective, just, reasoned, and sound manner.

Publications

  1. Advancing precision care in pregnancy through a treatable fetal findings list. Am J Hum Genet. 2025 Apr 03. View Abstract

  2. GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders. medRxiv. 2025 Mar 06. View Abstract

  3. Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions. Clin Chem. 2025 Jan 03; 71(1):129-140. View Abstract

  4. Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. Prenat Diagn. 2024 Dec 05. View Abstract

  5. Lethal phenotypes in Mendelian disorders. Genet Med. 2024 Jul; 26(7):101141. View Abstract

  6. Improving prenatal diagnosis through standards and aggregation. Prenat Diagn. 2024 04; 44(4):454-464. View Abstract

  7. Lethal phenotypes in Mendelian disorders. medRxiv. 2024 Jan 13. View Abstract

  8. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024 Jan 05; 52(D1):D1333-D1346. View Abstract

  9. High-Resolution and Noninvasive Fetal Exome Screening. N Engl J Med. 2023 11 23; 389(21):2014-2016. View Abstract

  10. Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248. View Abstract

  11. Beyond the exome: what's next in diagnostic testing for Mendelian conditions. ArXiv. 2023 Jan 18. View Abstract

  12. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. Am J Med Genet C Semin Med Genet. 2022 06; 190(2):231-242. View Abstract

  13. Severe, Recurrent Anemia in a 17-Year-Old Female. Clin Pediatr (Phila). 2022 10; 61(9):659-663. View Abstract

  14. 50 Years Ago in TheJournalofPediatrics: Billions of Genomes: Mosaicism in Turner Syndrome. J Pediatr. 2022 Apr; 243:77. View Abstract

  15. 50 Years Ago in TheJournalofPediatrics: Logic of Biochemical Discovery in Pompe Disease. J Pediatr. 2021 Nov; 238:173. View Abstract

  16. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Res. 2020 08; 13(8):1300-1310. View Abstract

  17. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med. 2019 07; 21(7):1611-1620. View Abstract

  18. Longitudinal report of child with de novo 16p11.2 triplication. Clin Case Rep. 2018 01; 6(1):147-154. View Abstract

  19. The birth of a human-specific neural gene by incomplete duplication and gene fusion. Genome Biol. 2017 03 09; 18(1):49. View Abstract

  20. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. Nature. 2016 08 11; 536(7615):205-9. View Abstract

  21. Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. Am J Hum Genet. 2016 Jan 07; 98(1):45-57. View Abstract

  22. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. Am J Hum Genet. 2016 Jan 07; 98(1):58-74. View Abstract

  23. Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism". Biol Psychiatry. 2015 May 01; 77(9):769-71. View Abstract

  24. Genomic studies in fragile X premutation carriers. J Neurodev Disord. 2014; 6(1):27. View Abstract

  25. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet. 2014 Mar 06; 94(3):415-25. View Abstract

  26. Non-DNA-binding cofactors enhance DNA-binding specificity of a transcriptional regulatory complex. Mol Syst Biol. 2011 Dec 06; 7:555. View Abstract

  27. Synthesis and evaluation of substrate analogue inhibitors of trypanothione reductase. J Enzyme Inhib Med Chem. 2012 Dec; 27(6):784-94. View Abstract

I am motivated by the potential of genomic medicine and driven by the success and challenges of unlocking the utility of genomics for all in an expeditious, effective, just, reasoned, and sound manner.

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