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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel. Lai A, et al. Among authors: knight d. Genet Med. 2022 Nov;24(11):2240-2248. doi: 10.1016/j.gim.2022.07.020. Epub 2022 Aug 23. Genet Med. 2022. PMID: 35997716 Free PMC article.
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Rockowitz S, et al. Among authors: knight d. NPJ Genom Med. 2020 Jul 6;5:29. doi: 10.1038/s41525-020-0137-0. eCollection 2020. NPJ Genom Med. 2020. PMID: 32655885 Free PMC article.
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Ni M, Afroze B, Xing C, Pan C, Shao Y, Cai L, Cantarel BL, Pei J, Grishin NV, Hewson S, Knight D, Mahida S, Michel D, Tarnopolsky M, Poduri A, Rotenberg A, Sondheimer N, DeBerardinis RJ. Ni M, et al. Among authors: knight d. Genet Med. 2021 May;23(5):900-908. doi: 10.1038/s41436-020-01071-z. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473208 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33574273
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. Among authors: knight d, d gama am. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
Defining the phylogenetics and resistome of the major Clostridioides difficile ribotypes circulating in Australia.
O'Grady K, Hong S, Putsathit P, George N, Hemphill C, Huntington PG, Korman TM, Kotsanas D, Lahra M, McDougall R, McGlinchey A, Levy A, Moore CV, Nimmo G, Prendergast L, Robson J, Speers DJ, Waring L, Wehrhahn MC, Weldhagen GF, Wilson RM, Riley TV, Knight DR. O'Grady K, et al. Among authors: knight dr. Microb Genom. 2024 May;10(5). doi: 10.1099/mgen.0.001232. Microb Genom. 2024. PMID: 38717815
Cardiac defects of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study.
Knight DRT, Bruno KA, Singh A, Munipalli B, Gajarawala S, Solomon M, Kocsis SC, Darakjian AA, Jain A, Whelan ER, Kotha A, Gorelov DJ, Phillips SD, Fairweather D. Knight DRT, et al. Front Cardiovasc Med. 2024 Mar 18;11:1332508. doi: 10.3389/fcvm.2024.1332508. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 38562189 Free PMC article.
1,497 results