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

Year Number of Results
1949 1
1952 1
1956 1
1958 1
1959 1
1963 1
1968 2
1970 1
1971 1
1973 3
1974 2
1975 1
1976 1
1977 1
1978 2
1979 2
1980 4
1981 3
1982 6
1984 7
1985 2
1986 5
1987 6
1988 8
1989 7
1990 6
1991 7
1992 11
1993 13
1994 10
1995 9
1996 10
1997 7
1998 4
1999 3
2000 2
2001 3
2002 4
2003 3
2004 4
2005 2
2006 3
2007 4
2008 5
2009 1
2010 3
2011 9
2012 13
2013 13
2014 22
2015 25
2016 11
2017 9
2018 8
2019 10
2020 13
2021 14
2022 11
2023 9
2024 14

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347 results

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Page 1
Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions.
Phung L, Wood E, Egleston B, Hoffman-Andrews L, Ofidis D, Howe S, Mim R, Griffin H, Fetzer D, Owens A, Domchek S, Pyeritz R, Katona B, Kallish S, Sirugo G, Weaver J, Nathanson KL, Rader DJ, Bradbury AR. Phung L, et al. Among authors: griffin h. HGG Adv. 2024 Oct 10;5(4):100346. doi: 10.1016/j.xhgg.2024.100346. Epub 2024 Aug 24. HGG Adv. 2024. PMID: 39183478 Free PMC article. Clinical Trial.
Neutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel Disease.
Griffin H, Ceron-Gutierrez L, Gharahdaghi N, Ebrahimi S, Davies S, Loo PS, Szabo A, Williams E, Mukhopadhyay A, McLoughlin L, Irwin S, Travis S, Klenerman P, Bunn S, Cant AJ, Hambleton S, Uhlig HH, Doffinger R. Griffin H, et al. N Engl J Med. 2024 Aug 1;391(5):434-441. doi: 10.1056/NEJMoa2312302. N Engl J Med. 2024. PMID: 39083772 Free PMC article.
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.
Chen R, Lukianova E, van der Loeff IS, Spegarova JS, Willet JDP, James KD, Ryder EJ, Griffin H, IJspeert H, Gajbhiye A, Lamoliatte F, Marin-Rubio JL, Woodbine L, Lemos H, Swan DJ, Pintar V, Sayes K, Ruiz-Morales ER, Eastham S, Dixon D, Prete M, Prigmore E, Jeggo P, Boyes J, Mellor A, Huang L, van der Burg M, Engelhardt KR, Stray-Pedersen A, Erichsen HC, Gennery AR, Trost M, Adams DJ, Anderson G, Lorenc A, Trynka G, Hambleton S. Chen R, et al. Among authors: griffin h. Sci Immunol. 2024 May 24;9(95):eade5705. doi: 10.1126/sciimmunol.ade5705. Epub 2024 May 24. Sci Immunol. 2024. PMID: 38787962
A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.
Stremenova Spegarova J, Sinnappurajar P, Al Julandani D, Navickas R, Griffin H, Ahuja M, Grainger A, Livingstone K, Rice GI, Sutherland F, Hayes C, Parke S, Pang L, Roderick MR, Slatter M, Crow Y, Ramanan AV, Hambleton S. Stremenova Spegarova J, et al. Among authors: griffin h. J Clin Invest. 2024 May 16;134(13):e179193. doi: 10.1172/JCI179193. J Clin Invest. 2024. PMID: 38753439 Free PMC article. No abstract available.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: griffin h. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300 Free PMC article.
347 results