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293 results

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Page 1
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Among authors: scott rh. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R; Genomics England Research Consortium; Atan D, Sayer JA. Olinger E, et al. Genet Med Open. 2024 Feb 29;2:101834. doi: 10.1016/j.gimo.2024.101834. eCollection 2024. Genet Med Open. 2024. PMID: 39669628 Free PMC article.
X-ray phase-contrast imaging of strong shocks on OMEGA EP.
Antonelli L, Theobald W, Barbato F, Atzeni S, Batani D, Betti R, Bouffetier V, Casner A, Ceurvorst L, Cao D, Ruby JJ, Glize K, Goudal T, Kar A, Khan M, Dearling A, Koenig M, Nilson PM, Scott RHH, Turianska O, Wei M, Woolsey NC. Antonelli L, et al. Among authors: scott rhh. Rev Sci Instrum. 2024 Nov 1;95(11):113504. doi: 10.1063/5.0168059. Rev Sci Instrum. 2024. PMID: 39526998
Origins and impact of extrachromosomal DNA.
Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE, Dameracharla B, Bentham R, Lu WT, Kittel J, Yang SYC, Howitt BE, Sharma N, Litovchenko M, Salgado R, Hung KL, Cornish AJ, Moore DA, Houlston RS, Bafna V, Chang HY, Nik-Zainal S, Kanu N, McGranahan N; Genomics England Consortium; Flanagan AM, Mischel PS, Jamal-Hanjani M, Swanton C. Bailey C, et al. Nature. 2024 Nov;635(8037):193-200. doi: 10.1038/s41586-024-08107-3. Epub 2024 Nov 6. Nature. 2024. PMID: 39506150 Free PMC article.
Patient and health professional attitudes towards the use of telemedicine for abortion care in Britain: Findings from the SACHA study.
Meiksin R, Lewandowska M, Scott RH, Palmer M, McCarthy O, Salaria N, Lohr PA, Shawe J, French RS, Wellings K; SACHA Study Team. Meiksin R, et al. Among authors: scott rh. Digit Health. 2024 Nov 3;10:20552076241288717. doi: 10.1177/20552076241288717. eCollection 2024 Jan-Dec. Digit Health. 2024. PMID: 39502487 Free PMC article.
Attitudes towards the regulation and provision of abortion among healthcare professionals in Britain: cross-sectional survey data from the SACHA Study.
Wellings K, Scott RH, Sheldon S, McCarthy O, Palmer MJ, Shawe J, Meiksin R, Lewandowska M, Cameron ST, Reiter J, French RS; SACHA Study Team; SACHA study team. Wellings K, et al. Among authors: scott rh. BMJ Sex Reprod Health. 2024 Dec 30:bmjsrh-2024-202353. doi: 10.1136/bmjsrh-2024-202353. Online ahead of print. BMJ Sex Reprod Health. 2024. PMID: 39500558
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.
Leong IUS, Cabrera CP, Cipriani V, Ross PJ, Turner RM, Stuckey A, Sanghvi S, Pasko D, Moutsianas L, Odhams CA, Elgar GS, Chan G, Giess A, Walker S, Foulger RE, Williams EM, Daugherty LC, Rueda-Martin A, Rhodes DJ, Niblock O, Pickard A, Marks L, Leigh SEA, Welland MJ, Bleda M, Snow C, Deans Z, Murugaesu N, Scott RH, Barnes MR, Brown MA, Rendon A, Hill S, Sosinsky A, Caulfield MJ, McDonagh EM. Leong IUS, et al. Among authors: scott rh. J Clin Oncol. 2024 Oct 31:JCO2302761. doi: 10.1200/JCO.23.02761. Online ahead of print. J Clin Oncol. 2024. PMID: 39481076
A call to action to scale up research and clinical genomic data sharing.
Stark Z, Glazer D, Hofmann O, Rendon A, Marshall CR, Ginsburg GS, Lunt C, Allen N, Effingham M, Hastings Ward J, Hill SL, Ali R, Goodhand P, Page A, Rehm HL, North KN, Scott RH. Stark Z, et al. Among authors: scott rh. Nat Rev Genet. 2024 Oct 7. doi: 10.1038/s41576-024-00776-0. Online ahead of print. Nat Rev Genet. 2024. PMID: 39375561 Review.
293 results