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High-Resolution and Noninvasive Fetal Exome Screening.
Brand H, Whelan CW, Duyzend M, Lemanski J, Salani M, Hao SP, Wong I, Valkanas E, Cusick C, Genetti C, Dobson L, Studwell C, Gianforcaro K, Wilkins-Haug L, Guseh S, Currall B, Gray K, Talkowski ME. Brand H, et al. Among authors: duyzend m. N Engl J Med. 2023 Nov 23;389(21):2014-2016. doi: 10.1056/NEJMc2216144. N Engl J Med. 2023. PMID: 37991862 No abstract available.
The birth of a human-specific neural gene by incomplete duplication and gene fusion.
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. Dougherty ML, et al. Among authors: duyzend mh. Genome Biol. 2017 Mar 9;18(1):49. doi: 10.1186/s13059-017-1163-9. Genome Biol. 2017. PMID: 28279197 Free PMC article.
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
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. Nuttle X, et al. Among authors: duyzend mh. Nature. 2016 Aug 11;536(7615):205-9. doi: 10.1038/nature19075. Epub 2016 Aug 3. Nature. 2016. PMID: 27487209 Free PMC article.
Genomic studies in fragile X premutation carriers.
Lozano R, Hagerman RJ, Duyzend M, Budimirovic DB, Eichler EE, Tassone F. Lozano R, et al. Among authors: duyzend m. J Neurodev Disord. 2014;6(1):27. doi: 10.1186/1866-1955-6-27. Epub 2014 Jul 30. J Neurodev Disord. 2014. PMID: 25170347 Free PMC article.
Longitudinal report of child with de novo 16p11.2 triplication.
Wallace AS, Hudac CM, Steinman KJ, Peterson JL, DesChamps TD, Duyzend MH, Nuttle X, Eichler EE, Bernier RA. Wallace AS, et al. Among authors: duyzend mh. Clin Case Rep. 2017 Dec 6;6(1):147-154. doi: 10.1002/ccr3.1236. eCollection 2018 Jan. Clin Case Rep. 2017. PMID: 29375855 Free PMC article.
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE. Guo H, et al. Genet Med. 2019 Jul;21(7):1611-1620. doi: 10.1038/s41436-018-0380-2. Epub 2018 Dec 3. Genet Med. 2019. PMID: 30504930 Free PMC article.
Beyond the exome: what's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: duyzend mh. ArXiv [Preprint]. 2023 Jan 18:arXiv:2301.07363v1. ArXiv. 2023. PMID: 36713248 Free PMC article. Updated. Preprint.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: duyzend mh. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
23 results