Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 1
2007 1
2008 2
2013 1
2014 3
2015 3
2016 5
2018 3
2020 12
2021 18
2022 11
2023 6
2024 14

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

76 results

Results by year

Filters applied: . Clear all
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.
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.
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.
Burleigh A, Moraitis E, Al Masroori E, Al-Abadi E, Hong Y, Omoyinmi E, Titheradge H, Stals K, Jones WD, Gait A, Jayarajan V, Di WL, Sebire N, Solman L, Ogboli M, Welch SB, Sudarsanam A, Wacogne I, Price-Kuehne F, Jensen B, Brogan PA, Eleftheriou D. Burleigh A, et al. Among authors: welch sb. Front Immunol. 2023 Dec 5;14:1287258. doi: 10.3389/fimmu.2023.1287258. eCollection 2023. Front Immunol. 2023. PMID: 38115997 Free PMC 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.
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 Review.
Dolutegravir as First- or Second-Line Treatment for HIV-1 Infection in Children.
Turkova A, White E, Mujuru HA, Kekitiinwa AR, Kityo CM, Violari A, Lugemwa A, Cressey TR, Musoke P, Variava E, Cotton MF, Archary M, Puthanakit T, Behuhuma O, Kobbe R, Welch SB, Bwakura-Dangarembizi M, Amuge P, Kaudha E, Barlow-Mosha L, Makumbi S, Ramsagar N, Ngampiyaskul C, Musoro G, Atwine L, Liberty A, Musiime V, Bbuye D, Ahimbisibwe GM, Chalermpantmetagul S, Ali S, Sarfati T, Wynne B, Shakeshaft C, Colbers A, Klein N, Bernays S, Saïdi Y, Coelho A, Grossele T, Compagnucci A, Giaquinto C, Rojo P, Ford D, Gibb DM; ODYSSEY Trial Team. Turkova A, et al. Among authors: welch sb. N Engl J Med. 2021 Dec 30;385(27):2531-2543. doi: 10.1056/NEJMoa2108793. N Engl J Med. 2021. PMID: 34965338 Free PMC article. Clinical Trial.
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.
Treatment of meningococcal infection.
Welch SB, Nadel S. Welch SB, et al. Arch Dis Child. 2003 Jul;88(7):608-14. doi: 10.1136/adc.88.7.608. Arch Dis Child. 2003. PMID: 12818909 Free PMC article. Review.
76 results