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

Year Number of Results
1956 1
1957 1
1959 1
1962 1
1966 1
1968 1
1969 3
1971 2
1972 6
1973 3
1975 4
1976 1
1977 4
1978 3
1979 8
1980 12
1981 7
1982 2
1983 6
1984 9
1985 6
1986 5
1987 5
1988 14
1989 13
1990 15
1991 18
1992 9
1993 11
1994 12
1995 17
1996 20
1997 25
1998 24
1999 19
2000 15
2001 15
2002 24
2003 24
2004 19
2005 26
2006 34
2007 35
2008 32
2009 34
2010 34
2011 32
2012 29
2013 44
2014 60
2015 53
2016 52
2017 80
2018 73
2019 67
2020 48
2021 57
2022 60
2023 53
2024 36
2025 36

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1,250 results

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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Among authors: fitzpatrick dr. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Paediatric genomics: diagnosing rare disease in children.
Wright CF, FitzPatrick DR, Firth HV. Wright CF, et al. Among authors: fitzpatrick dr. Nat Rev Genet. 2018 May;19(5):253-268. doi: 10.1038/nrg.2017.116. Epub 2018 Feb 5. Nat Rev Genet. 2018. PMID: 29398702 Review.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, An… See abstract for full author list ➔ Hamdan FF, et al. Among authors: fitzpatrick dr. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
SOX2 Disorder.
Williamson KA, Yates TM, FitzPatrick DR. Williamson KA, et al. Among authors: fitzpatrick dr. 2006 Feb 23 [updated 2020 Jul 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Feb 23 [updated 2020 Jul 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301477 Free Books & Documents. Review.
Safety and Efficacy of a Third Dose of BNT162b2 Covid-19 Vaccine.
Moreira ED Jr, Kitchin N, Xu X, Dychter SS, Lockhart S, Gurtman A, Perez JL, Zerbini C, Dever ME, Jennings TW, Brandon DM, Cannon KD, Koren MJ, Denham DS, Berhe M, Fitz-Patrick D, Hammitt LL, Klein NP, Nell H, Keep G, Wang X, Koury K, Swanson KA, Cooper D, Lu C, Türeci Ö, Lagkadinou E, Tresnan DB, Dormitzer PR, Şahin U, Gruber WC, Jansen KU; C4591031 Clinical Trial Group. Moreira ED Jr, et al. N Engl J Med. 2022 May 19;386(20):1910-1921. doi: 10.1056/NEJMoa2200674. Epub 2022 Mar 23. N Engl J Med. 2022. PMID: 35320659 Free PMC article. Clinical Trial.
Circadian clock protein BMAL1 regulates IL-1β in macrophages via NRF2.
Early JO, Menon D, Wyse CA, Cervantes-Silva MP, Zaslona Z, Carroll RG, Palsson-McDermott EM, Angiari S, Ryan DG, Corcoran SE, Timmons G, Geiger SS, Fitzpatrick DJ, O'Connell D, Xavier RJ, Hokamp K, O'Neill LAJ, Curtis AM. Early JO, et al. Among authors: fitzpatrick dj. Proc Natl Acad Sci U S A. 2018 Sep 4;115(36):E8460-E8468. doi: 10.1073/pnas.1800431115. Epub 2018 Aug 20. Proc Natl Acad Sci U S A. 2018. PMID: 30127006 Free PMC article.
Postmenopausal Osteoporosis.
Fitzpatrick D, Lannon R, McCarroll K. Fitzpatrick D, et al. N Engl J Med. 2024 Feb 15;390(7):675. doi: 10.1056/NEJMc2314624. N Engl J Med. 2024. PMID: 38354155 No abstract available.
1,250 results