Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

23 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: duyzend m. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
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. Turner TN, et al. Among authors: duyzend mh. Am J Hum Genet. 2016 Jan 7;98(1):58-74. doi: 10.1016/j.ajhg.2015.11.023. Epub 2015 Dec 31. Am J Hum Genet. 2016. PMID: 26749308 Free PMC article.
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.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
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. Dhombres F, et al. Among authors: duyzend mh. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):231-242. doi: 10.1002/ajmg.c.31989. Epub 2022 Jul 24. Am J Med Genet C Semin Med Genet. 2022. PMID: 35872606 Free PMC article.
Improving prenatal diagnosis through standards and aggregation.
Duyzend MH, Cacheiro P, Jacobsen JOB, Giordano J, Brand H, Wapner RJ, Talkowski ME, Robinson PN, Smedley D. Duyzend MH, et al. Prenat Diagn. 2024 Apr;44(4):454-464. doi: 10.1002/pd.6522. Epub 2024 Jan 19. Prenat Diagn. 2024. PMID: 38242839 Review.
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.
23 results