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Michael Henri Duyzend, M.D.,Ph.D.


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  1. F30MH105055 (DUYZEND, MICHAEL H) Jul 1, 2014 - Apr 28, 2018
    The genetic basis underlying the phenotype heterogeneity of the 16p11.2 CNV
    Role: Principal Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Silva RG, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, Robinson PN. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. Am J Med Genet C Semin Med Genet. 2022 Jul 24. PMID: 35872606.
    Citations:    Fields:    
  2. O'Meara D, Duyzend M, Harper B, Silverstein J. Severe, Recurrent Anemia in a 17-Year-Old Female. Clin Pediatr (Phila). 2022 10; 61(9):659-663. PMID: 35678025.
    Citations:    Fields:    
  3. Duyzend MH. 50 Years Ago in TheJournalofPediatrics: Billions of Genomes: Mosaicism in Turner Syndrome. J Pediatr. 2022 Apr; 243:77. PMID: 35341557.
    Citations:    Fields:    Translation:Humans
  4. Duyzend MH. 50 Years Ago in TheJournalofPediatrics: Logic of Biochemical Discovery in Pompe Disease. J Pediatr. 2021 Nov; 238:173. PMID: 34702494.
    Citations:    Fields:    Translation:Humans
  5. Hudac CM, Bove J, Barber S, Duyzend M, Wallace A, Martin CL, Ledbetter DH, Hanson E, Goin-Kochel RP, Green-Snyder L, Chung WK, Eichler EE, Bernier RA. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Res. 2020 08; 13(8):1300-1310. PMID: 32597026.
    Citations: 4     Fields:    Translation:HumansCells
  6. Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med. 2019 07; 21(7):1611-1620. PMID: 30504930; PMCID: PMC6546556.
    Citations: 35     Fields:    Translation:Humans
  7. Wallace AS, Hudac CM, Steinman KJ, Peterson JL, DesChamps TD, Duyzend MH, Nuttle X, Eichler EE, Bernier RA. Longitudinal report of child with de novo 16p11.2 triplication. Clin Case Rep. 2018 01; 6(1):147-154. PMID: 29375855; PMCID: PMC5771938.
    Citations: 2     
  8. Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE. The birth of a human-specific neural gene by incomplete duplication and gene fusion. Genome Biol. 2017 03 09; 18(1):49. PMID: 28279197; PMCID: PMC5345166.
    Citations: 15     Fields:    Translation:HumansCells
  9. Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, Denman L, Harshman L, Baker C, Raja A, Penewit K, Janke N, Tang WJ, Ventura M, Banci L, Antonacci F, Akey JM, Amemiya CT, Gage FH, Reymond A, Eichler EE. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. Nature. 2016 08 11; 536(7615):205-9. PMID: 27487209; PMCID: PMC4988886.
    Citations: 45     Fields:    Translation:HumansAnimalsCells
  10. Turner TN, Hormozdiari F, Duyzend MH, McClymont SA, Hook PW, Iossifov I, Raja A, Baker C, Hoekzema K, Stessman HA, Zody MC, Nelson BJ, Huddleston J, Sandstrom R, Smith JD, Hanna D, Swanson JM, Faustman EM, Bamshad MJ, Stamatoyannopoulos J, Nickerson DA, McCallion AS, Darnell R, Eichler EE. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. Am J Hum Genet. 2016 Jan 07; 98(1):58-74. PMID: 26749308; PMCID: PMC4716689.
    Citations: 129     Fields:    Translation:Humans
  11. Duyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EE. 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. PMID: 26749307; PMCID: PMC4716684.
    Citations: 31     Fields:    Translation:HumansCells
  12. Duyzend MH, Eichler EE. Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism". Biol Psychiatry. 2015 May 01; 77(9):769-71. PMID: 25843334; PMCID: PMC4657856.
    Citations: 9     Fields:    Translation:HumansCells
  13. Lozano R, Hagerman RJ, Duyzend M, Budimirovic DB, Eichler EE, Tassone F. Genomic studies in fragile X premutation carriers. J Neurodev Disord. 2014; 6(1):27. PMID: 25170347.
    Citations: 12     Fields:    
  14. Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE. 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. PMID: 24581740.
    Citations: 191     Fields:    Translation:HumansCells
  15. Siggers T, Duyzend MH, Reddy J, Khan S, Bulyk ML. Non-DNA-binding cofactors enhance DNA-binding specificity of a transcriptional regulatory complex. Mol Syst Biol. 2011 Dec 06; 7:555. PMID: 22146299.
    Citations: 63     Fields:    Translation:AnimalsCells
  16. Duyzend MH, Clark CT, Simmons SL, Johnson WB, Larson AM, Leconte AM, Wills AW, Ginder-Vogel M, Wilhelm AK, Czechowicz JA, Alberg DG. Synthesis and evaluation of substrate analogue inhibitors of trypanothione reductase. J Enzyme Inhib Med Chem. 2012 Dec; 27(6):784-94. PMID: 22085139.
    Citations:    Fields:    Translation:AnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.