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Author Details

Michael H Duyzend
Massachusetts General Hospital
2011
15
10
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37991862High-Resolution and Noninvasive Fetal Exome Screening.N Engl J Med2023
35872606Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.Am J Med Genet C Semin Med Genet2022
32597026Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.Autism Res2020
30504930Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.Genet Med2019
29375855Longitudinal report of child with de novo 16p11.2 triplication.Clin Case Rep2017
28279197The birth of a human-specific neural gene by incomplete duplication and gene fusion.Genome Biol2017
26749307Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.Am J Hum Genet2016
27487209Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.Nature2016
26749308Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.Am J Hum Genet2016
25843334Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism".Biol Psychiatry2015
24581740A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.Am J Hum Genet2014
25170347Genomic studies in fragile X premutation carriers.J Neurodev Disord2014
22085139Synthesis and evaluation of substrate analogue inhibitors of trypanothione reductase.J Enzyme Inhib Med Chem2012
22146299Non-DNA-binding cofactors enhance DNA-binding specificity of a transcriptional regulatory complex.Mol Syst Biol2011
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Collaborators

University of Washington
Co-authored papers 10
University of Washington School of Medicine
Co-authored papers 5
University of Washington
Co-authored papers 3
Armand Trousseau Hospital, Sorbonne University
Co-authored papers 2
Center for the Science of Therapeutics, Broad Institute of MIT and Harvard
Co-authored papers 2
Columbia University Irving Medical Center
Co-authored papers 2
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Co-authored papers 2
Altius Institute for Biomedical Sciences
Co-authored papers 2
University of Washington
Co-authored papers 2
Broad Institute of Harvard and MIT
Co-authored papers 2
Critical Path Institute
Co-authored papers 2
DOE Joint Genome Institute, Lawrence Berkeley National Laboratory
Co-authored papers 2
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 2
University of Colorado Anschutz Medical Campus
Co-authored papers 2
Co-authored papers 1
Co-authored papers 1
University of Lausanne
Co-authored papers 1
Center for Craniofacial and Dental Genetics, University of Pittsburgh
Co-authored papers 1
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INSERM
Co-authored papers 1
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 1
University of California davis
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Boston Children's Hospital
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McGill University, Canada Shriners Hospital for Children-Canada
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Harvard Medical School
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Dalhousie University
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St. Anna Children's Cancer Research Institute (CCRI)
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