MichaelHenriDuyzendMDPhD

Medical Genetics • Boston, MA

Clinical Genetics

Resident Physician

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Office
Boston Children's Hospital
300 Longwood Ave
Boston, MA 02115
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Education & Training

University of Washington School of MedicineClass of 2018, MD
University of WashingtonPhD, Genome Sciences, 2011 - 2016
Cambridge CollegeMPhil, Computational Biology, 2008 - 2009

Certifications & Licensure

MA State Medical License 2018 - 2025
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Publications & Presentations

PubMed

Lethal phenotypes in Mendelian disorders.
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Peter N Robinson, Damian Smedley, Michael Duyzend> ;Genetics in Medicine. 2024 Apr 13
1 citations
Improving prenatal diagnosis through standards and aggregation.
Michael H Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter N Robinson, Damian Smedley> ;Prenatal Diagnosis. 2024 Apr 1
Lethal phenotypes in Mendelian disorders.
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Duyzend, Peter N Robinson, Damian Smedley> ;Medrxiv. 2024 Jan 13
2 citations
High-Resolution and Noninvasive Fetal Exome Screening.
Harrison Brand, Christopher W Whelan, Michael Duyzend, John Lemanski, Monica Salani, Stephanie P Hao, Isaac Wong, Elise Valkanas, Caroline Cusick, Casie Genetti, Lori ...> ;The New England Journal of Medicine. 2023 Nov 23
6 citations
The Human Phenotype Ontology in 2024: phenotypes around the world.
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James...> ;Nucleic Acids Research. 2024 Jan 5
8 citations
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H Duyzend, Hayk Barseghyan, Bo Yuan, Philip M Boone, Emily E Groopman, Emmanuèle C Délot, Deep...> ;American Journal of Human Genetics. 2023 Aug 3
15 citations
Beyond the exome: what's next in diagnostic testing for Mendelian conditions.
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H Duyzend, Hayk Barseghyan, Bo Yuan, Philip M Boone, Emily E Groopman, Emmanuèle C Délot, Deep...> ;Arxiv. 2023 Jan 18
Severe, Recurrent Anemia in a 17-Year-Old Female.
Daniel O'Meara, Michael Duyzend, Beth Harper, Jared Silverstein> ;Clinical Pediatrics. 2022 Oct 1
11 citations
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Ferdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, Isabel Filges, Teresa N Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Jun 1
50 Years Ago in TheJournalofPediatrics: Billions of Genomes: Mosaicism in Turner Syndrome.
Michael H Duyzend> ;The Journal of Pediatrics. 2022 Apr 1
50 Years Ago in TheJournalofPediatrics: Logic of Biochemical Discovery in Pompe Disease
Michael H. Duyzend> ;The Journal of Pediatrics. 2021 Nov 1
18 citations
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Caitlin M. Hudac, Joanna M. Bove, Shelley Barber, Michael H. Duyzend, Ari Wallace, Christa Lese Martin, David H. Ledbetter, Ellen Hanson, Robin P. Goin-Kochel, LeeAnne...> ;Autism Research. 2020 Jun 28
72 citations
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Hui Guo, Michael H. Duyzend, Bradley P. Coe, Carl Baker, Kendra Hoekzema, Jennifer Gerdts, Tychele N. Turner, Michael C. Zody, Jennifer S. Beighley, Shwetha C. Murali,...> ;Genetics in Medicine. 2019 Jul 1
3 citations
Longitudinal report of child with de novo 16p11.2 triplication.
Arianne S. Wallace, Caitlin M. Hudac, Kyle J. Steinman, Jessica L. Peterson, Trent D. DesChamps, Michael H. Duyzend, Xander Nuttle, Evan E. Eichler, Raphael Bernier> ;Clinical Case Reports. 2018 Jan 1
23 citations
The birth of a human-specific neural gene by incomplete duplication and gene fusion.
Max L. Dougherty, Xander Nuttle, Osnat Penn, Bradley J. Nelson, John Huddleston, Carl Baker, Lana Harshman, Michael H. Duyzend, Mario Ventura, Francesca Antonacci, Ric...> ;Genome Biology. 2017 Mar 9
75 citations
Emergence of a Homo sapiens- specific gene family and chromosome 16p11.2 CNV susceptibility
Xander Nuttle, Giuliana Giannuzzi, Michael H. Duyzend, Joshua G. Schraiber, Iñigo Narvaiza, Peter H. Sudmant, Osnat Penn, Giorgia Chiatante, Maika Malig, John Huddlest...> ;Nature. 2016 Aug 11
40 citations
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
Michael H. Duyzend, Xander Nuttle, Bradley P. Coe, Carl Baker, Deborah A. Nickerson, Raphael Bernier, Evan E. Eichler> ;American Journal of Human Genetics. 2016 Jan 7
193 citations
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
Tychele N. Turner, Fereydoun Hormozdiari, Michael H. Duyzend, Sarah A. McClymont, Paul W. Hook, Ivan Iossifov, Archana Raja, Carl Baker, Kendra Hoekzema, Holly A.F. St...> ;American Journal of Human Genetics. 2016 Jan 7
11 citations
Genotype-First Analysis of the 16p11.2 Deletion Defines a New Type of “Autism”
Michael H. Duyzend, Evan E. Eichler> ;Biological Psychiatry. 2015 May 1
19 citations
Genomic studies in fragile X premutation carriers
Reymundo Lozano, Randi J Hagerman, Michael H. Duyzend, Dejan B. Budimirovic, Evan E. Eichler, Flora Tassone> ;Journal of Neurodevelopmental Disorders. 2014 Jul 30
351 citations
A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
Sébastien Jacquemont, Bradley P. Coe, Micha Hersch, Michael H. Duyzend, Niklas Krumm, Sven Bergmann, Jacques S. Beckmann, Jill A. Rosenfeld, Evan E. Eichler> ;American Journal of Human Genetics. 2014 Mar 6
7 citations
Synthesis and evaluation of substrate analogue inhibitors of trypanothione reductase
Michael H. Duyzend, Christopher T. Clark, Shayna L. Simmons, Wade B. Johnson, Anna M. Larson, Aaron M. Leconte, Andrew W. Wills, Matthew Ginder-Vogel, April K. Wilhelm...> ;Journal of Enzyme Inhibition and Medicinal Chemistry. 2012 Nov 29
79 citations
Non-DNA-binding cofactors enhance DNA-binding specificity of a transcriptional regulatory complex.
Trevor Siggers, Michael H. Duyzend, Jessica Reddy, Sidra Khan, Martha L. Bulyk> ;Molecular Systems Biology. 2011 Jan 1
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Press Mentions

Researchers Develop New Method for Prenatal Genetic TestingNovember 24th, 2023

Hospital Affiliations

Boston Children's HospitalBoston, Massachusetts

MichaelHenriDuyzendMDPhD

Dr. Duyzend is on Doximity

Education & Training

Certifications & Licensure

Publications & Presentations

Press Mentions

Hospital Affiliations

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