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2002 1
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80 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Management of the infant born to a mother with tuberculosis: a systematic review and consensus practice guideline.
Hasan N, Nourse C, Schaaf HS, Bekker A, Loveday M, Alcântara Gabardo BM, Coulter C, Chabala C, Kabra S, Moore E, Maleche-Obimbo E, Salazar-Austin N, Ritz N, Starke JR, Steenhoff AP, Triasih R, Welch SB, Marais BJ. Hasan N, et al. Among authors: welch sb. Lancet Child Adolesc Health. 2024 May;8(5):369-378. doi: 10.1016/S2352-4642(23)00345-0. Epub 2024 Mar 21. Lancet Child Adolesc Health. 2024. PMID: 38522446
Shorter Treatment for Nonsevere Tuberculosis in African and Indian Children.
Turkova A, Wills GH, Wobudeya E, Chabala C, Palmer M, Kinikar A, Hissar S, Choo L, Musoke P, Mulenga V, Mave V, Joseph B, LeBeau K, Thomason MJ, Mboizi RB, Kapasa M, van der Zalm MM, Raichur P, Bhavani PK, McIlleron H, Demers AM, Aarnoutse R, Love-Koh J, Seddon JA, Welch SB, Graham SM, Hesseling AC, Gibb DM, Crook AM; SHINE Trial Team. Turkova A, et al. Among authors: welch sb. N Engl J Med. 2022 Mar 10;386(10):911-922. doi: 10.1056/NEJMoa2104535. N Engl J Med. 2022. PMID: 35263517 Free PMC article. Clinical Trial.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Decision Aid for Pediatric Atopic Dermatitis.
Fishbein AB, Kaiser K, Welch SB, Lu C, Osborn J, Thomas J, Taddeo M, An H, Kwon A, Luong G, Zhang KL, Rangel SM, Paller AS, Griffith JW. Fishbein AB, et al. Among authors: welch sb. J Allergy Clin Immunol Pract. 2025 Apr;13(4):915-922.e10. doi: 10.1016/j.jaip.2025.01.030. Epub 2025 Feb 5. J Allergy Clin Immunol Pract. 2025. PMID: 39921089 Free article.
Obturator abscess in children: a delayed diagnosis.
Anwaar O, Carrillo M, Welch SB, Iyer V. Anwaar O, et al. Among authors: welch sb. Arch Dis Child. 2021 Oct;106(10):974. doi: 10.1136/archdischild-2020-321132. Epub 2021 Mar 30. Arch Dis Child. 2021. PMID: 33785531 No abstract available.
SARS-CoV-2 Surveillance System in Canada: Longitudinal Trend Analysis.
Post L, Boctor MJ, Issa TZ, Moss CB, Murphy RL, Achenbach CJ, Ison MG, Resnick D, Singh L, White J, Welch SB, Oehmke JF. Post L, et al. Among authors: welch sb. JMIR Public Health Surveill. 2021 May 10;7(5):e25753. doi: 10.2196/25753. JMIR Public Health Surveill. 2021. PMID: 33852410 Free PMC article.
Has Omicron Changed the Evolution of the Pandemic?
Lundberg AL, Lorenzo-Redondo R, Ozer EA, Hawkins CA, Hultquist JF, Welch SB, Prasad PVV, Oehmke JF, Achenbach CJ, Murphy RL, White JI, Havey RJ, Post LA. Lundberg AL, et al. Among authors: welch sb. JMIR Public Health Surveill. 2022 Jan 31;8(1):e35763. doi: 10.2196/35763. JMIR Public Health Surveill. 2022. PMID: 35072638 Free PMC article.
80 results