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2,063 results

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Page 1
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: myers c. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Olayiwola JO, Marhabaie M, Koboldt D, Matthews T, Siemon A, Mouhlas D, Porter T, Kyle G, Myers C, Mei H, Hou YC, Babcock M, Hunter J, Schieffer KM, Akkari Y, Reshmi S, Cottrell C, Mathew MT, Leung ML. Olayiwola JO, et al. Among authors: myers c. Mol Genet Genomic Med. 2024 Mar;12(3):e2349. doi: 10.1002/mgg3.2349. Epub 2024 Jan 23. Mol Genet Genomic Med. 2024. PMID: 38263869 Free PMC article. Review.
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.
Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Arredondo K, et al. Among authors: myers c. J Child Neurol. 2022 May;37(6):517-523. doi: 10.1177/08830738221089741. Epub 2022 Apr 6. J Child Neurol. 2022. PMID: 35384780
Prenatal Genetic Testing and Screening: A Focused Review.
Caceres V, Murray T, Myers C, Parbhoo K. Caceres V, et al. Among authors: myers c. Semin Pediatr Neurol. 2022 Jul;42:100976. doi: 10.1016/j.spen.2022.100976. Epub 2022 Apr 30. Semin Pediatr Neurol. 2022. PMID: 35868736 Review.
Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.
Gorman BR, Voloudakis G, Igo RP Jr, Kinzy T, Halladay CW, Bigdeli TB, Zeng B, Venkatesh S, Cooke Bailey JN, Crawford DC, Markianos K, Dong F, Schreiner PA, Zhang W; VA Million Veteran Program; International AMD Genomics Consortium (IAMDGC); Hadi T, Anger MD, Stockwell A, Melles RB, Yin J, Choquet H, Kaye R, Patasova K, Patel PJ, Yaspan BL, Jorgenson E, Hysi PG, Lotery AJ, Gaziano JM, Tsao PS, Fliesler SJ, Sullivan JM, Greenberg PB, Wu WC, Assimes TL, Pyarajan S, Roussos P, Peachey NS, Iyengar SK. Gorman BR, et al. Nat Genet. 2024 Dec;56(12):2659-2671. doi: 10.1038/s41588-024-01764-0. Epub 2024 Dec 2. Nat Genet. 2024. PMID: 39623103
Choice and motor impulsivity in Veterans with mild traumatic brain injury with and without history of suicide attempt.
Interian A, Myers CE, Brenner LA, Sweeney R, Osterberg T, Reddy V, Barnhart M, Hill LS, Miller RB, Beck KD, Cominski TP, Chan CC, Shafritz KM, Goodman MS, Hazlett EA. Interian A, et al. Among authors: myers ce. Psychiatry Res. 2024 Dec;342:116265. doi: 10.1016/j.psychres.2024.116265. Epub 2024 Nov 20. Psychiatry Res. 2024. PMID: 39591742
A Hearing Intervention and Health-Related Quality of Life in Older Adults: A Secondary Analysis of the ACHIEVE Randomized Clinical Trial.
Huang AR, Morales EG, Arnold ML, Burgard S, Couper D, Deal JA, Glynn NW, Gmelin T, Goman AM, Gravens-Mueller L, Hayden KM, Mitchell CM, Pankow JS, Pike JR, Reed NS, Sanchez VA, Schrack JA, Sullivan KJ, Coresh J, Lin FR, Chisolm TH; ACHIEVE Collaborative Research Group. Huang AR, et al. JAMA Netw Open. 2024 Nov 4;7(11):e2446591. doi: 10.1001/jamanetworkopen.2024.46591. JAMA Netw Open. 2024. PMID: 39570588 Free PMC article. Clinical Trial.
2,063 results