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

Year Number of Results
1898 1
1946 17
1947 18
1948 2
1949 8
1950 5
1951 8
1952 7
1953 5
1954 7
1955 2
1956 4
1957 2
1958 5
1959 2
1960 1
1961 3
1962 2
1963 3
1964 6
1965 11
1966 4
1967 7
1968 12
1969 12
1970 23
1971 21
1972 11
1973 20
1974 18
1975 19
1976 21
1977 7
1978 21
1979 19
1980 11
1981 15
1982 15
1983 17
1984 13
1985 14
1986 10
1987 11
1988 4
1989 8
1990 8
1991 9
1992 11
1993 8
1994 10
1995 13
1996 18
1997 13
1998 7
1999 18
2000 8
2001 16
2002 11
2003 11
2004 8
2005 7
2006 17
2007 26
2008 31
2009 38
2010 40
2011 30
2012 31
2013 31
2014 40
2015 32
2016 25
2017 27
2018 40
2019 22
2020 42
2021 55
2022 43
2023 39
2024 32

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1,186 results

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Page 1
Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: madden ja. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. N Engl J Med. 2024. PMID: 38838312
Editorial.
Madden JC. Madden JC. Altern Lab Anim. 2023 Nov;51(6):355-356. doi: 10.1177/02611929231206692. Epub 2023 Oct 15. Altern Lab Anim. 2023. PMID: 37840273 No abstract available.
Editorial.
Madden JC. Madden JC. Altern Lab Anim. 2023 Mar;51(2):83-84. doi: 10.1177/02611929231157832. Epub 2023 Feb 16. Altern Lab Anim. 2023. PMID: 36797995 No abstract available.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Thomas Q, et al. Among authors: madden ja. Genet Med. 2021 Oct;23(10):1901-1911. doi: 10.1038/s41436-021-01218-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113008 Free article.
Editorial.
Madden JC. Madden JC. Altern Lab Anim. 2023 Sep;51(5):293-294. doi: 10.1177/02611929231200532. Epub 2023 Aug 31. Altern Lab Anim. 2023. PMID: 37654108 No abstract available.
Editorial.
Madden JC. Madden JC. Altern Lab Anim. 2020 Sep-Nov;48(5-6):205-206. doi: 10.1177/0261192920987907. Altern Lab Anim. 2020. PMID: 33629611 No abstract available.
Alcohol and depression.
Madden JS. Madden JS. Br J Hosp Med. 1993 Sep 1-14;50(5):261-4. Br J Hosp Med. 1993. PMID: 8220840 Review.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: madden ja. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148 Free PMC article.
Trends in the global antibiotics market.
Madden J, Outterson K. Madden J, et al. Nat Rev Drug Discov. 2023 Mar;22(3):174. doi: 10.1038/d41573-023-00029-5. Nat Rev Drug Discov. 2023. PMID: 36792692 No abstract available.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: madden ja. medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829. medRxiv. 2023. PMID: 38328047 Free PMC article. Preprint.
1,186 results