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Page 1
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
Molina-Ramírez LP, Kyle C, Ellingford JM, Wright R, Taylor A, Bhaskar SS, Campbell C, Jackson H, Fairclough A, Rousseau A, Burghel GJ, Dutton L, Banka S, Briggs TA, Clayton-Smith J, Douzgou S, Jones EA, Kingston HM, Kerr B, Ealing J, Somarathi S, Chandler KE, Stuart HM, Burkitt-Wright EM, Newman WG, Bruce IA, Black GC, Gokhale D. Molina-Ramírez LP, et al. Among authors: somarathi s. J Med Genet. 2022 Apr;59(4):393-398. doi: 10.1136/jmedgenet-2020-107303. Epub 2021 Apr 20. J Med Genet. 2022. PMID: 33879512 Free PMC article.
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Walker S, Bunyan DJ, Thomas HB, Kesim Y, Kershaw CJ, Holloway J, Wai H, Day M, Smith CL, Hawkes G, Wood AR, Weedon MN, Blair E, Curtis SL, Fielden C, Evans J, Whittington R, Smithson SF, Cox H, Clift P, McEntagart M, Prapa M, Alsters S, Morris-Rosendahl D, Dean J, Morrison PJ, Dixit A, Sarkar A, Prescott K, Amel Riazat Kesh L, Tharakan R, Turner C, Ellard S, Shaw-Smith C, Fasham J, Clowes V, Holden S, Somarathi S, Mercer C, Berry I, O'Keefe RT, Banka S, Baralle D, Thomas NS, Baple EL, Taylor JC, Pagnamenta AT. Walker S, et al. Among authors: somarathi s. Genet Med. 2025 Sep;27(9):101477. doi: 10.1016/j.gim.2025.101477. Epub 2025 Jun 2. Genet Med. 2025. PMID: 40476350 Free article.
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.
Stafford-Smith B, Daniel M, Peter M, Gurasashvili J, Baptiste R, Bracke-Manzanares X, Georgiou L, Green-Armytage A, Griffin B, Lumborg B, Paternoster B, Smith E, Balasubramanian M, Bownass L, Brennan P, Cleaver R, Clowes V, Costello P, DeSouza B, Dubois L, George A, George E, Harrison R, Hawkes L, Humphries SE, Jones A, Jones EA, Kraus A, Holiday D, McEntagart M, Somarathi S, Taylor A, Tripathi V, Morris S, Chitty LS, Hill M. Stafford-Smith B, et al. Among authors: somarathi s. Genet Med. 2025 Dec;27(12):101446. doi: 10.1016/j.gim.2025.101446. Epub 2025 Apr 19. Genet Med. 2025. PMID: 40260669 Free article.
The clinical presentation caused by truncating CHD8 variants.
Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S; Deciphering Developmental Disorders Study; Banka S. Douzgou S, et al. Among authors: somarathi s. Clin Genet. 2019 Jul;96(1):72-84. doi: 10.1111/cge.13554. Epub 2019 May 14. Clin Genet. 2019. PMID: 31001818
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP; DDD Study; Zuberi SM. Symonds JD, et al. Among authors: somarathi s. Epilepsia. 2017 Apr;58(4):565-575. doi: 10.1111/epi.13669. Epub 2017 Feb 6. Epilepsia. 2017. PMID: 28166369 Free article.
"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.
Stafford-Smith B, Gurasashvili J, Peter M, Daniel M, Balasubramanian M, Bownass L, Brennan P, Cleaver R, Clowes V, Costello P, DeSouza B, Dubois L, Harrison R, Hawkes L, Jones EA, Kraus A, McEntagart M, Somarathi S, Taylor A, Tripathi V, Chitty LS, Hill M. Stafford-Smith B, et al. Among authors: somarathi s. Eur J Hum Genet. 2025 Aug;33(8):1025-1034. doi: 10.1038/s41431-024-01716-6. Epub 2024 Nov 5. Eur J Hum Genet. 2025. PMID: 39496896 Free PMC article.