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

Year Number of Results
1962 1
1963 1
1964 1
1965 2
1966 2
1967 3
1968 1
1969 2
1970 2
1971 1
1972 3
1973 3
1974 3
1975 2
1976 2
1977 1
1978 1
1979 1
1980 2
2018 2
2019 3
2020 1
2021 2
2022 3
2023 1
2024 0

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46 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. 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.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. Among authors: kaplanis j. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Among authors: kaplanis j. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation.
Soskic B, Cano-Gamez E, Smyth DJ, Ambridge K, Ke Z, Matte JC, Bossini-Castillo L, Kaplanis J, Ramirez-Navarro L, Lorenc A, Nakic N, Esparza-Gordillo J, Rowan W, Wille D, Tough DF, Bronson PG, Trynka G. Soskic B, et al. Among authors: kaplanis j. Nat Genet. 2022 Jun;54(6):817-826. doi: 10.1038/s41588-022-01066-3. Epub 2022 May 26. Nat Genet. 2022. PMID: 35618845 Free PMC article.
Genetic and chemotherapeutic influences on germline hypermutation.
Kaplanis J, Ide B, Sanghvi R, Neville M, Danecek P, Coorens T, Prigmore E, Short P, Gallone G, McRae J; Genomics England Research Consortium; Carmichael J, Barnicoat A, Firth H, O'Brien P, Rahbari R, Hurles M. Kaplanis J, et al. Nature. 2022 May;605(7910):503-508. doi: 10.1038/s41586-022-04712-2. Epub 2022 May 11. Nature. 2022. PMID: 35545669 Free PMC article.
Metabolic pathways of steroids in insects.
Thompson MJ, Svoboda JA, Kaplanis JN, Robbins WE. Thompson MJ, et al. Among authors: kaplanis jn. Proc R Soc Lond B Biol Sci. 1972 Feb 15;180(1059):203-21. doi: 10.1098/rspb.1972.0015. Proc R Soc Lond B Biol Sci. 1972. PMID: 4401777 Review. No abstract available.
Recent developments in insect steroid metabolism.
Svoboda JA, Kaplanis JN, Robbins WE, Thompson MJ. Svoboda JA, et al. Among authors: kaplanis jn. Annu Rev Entomol. 1975;20:205-20. doi: 10.1146/annurev.en.20.010175.001225. Annu Rev Entomol. 1975. PMID: 1091201 Review. No abstract available.
Insect steroid metabolism.
Svoboda JA, Thompson MJ, Robbins WE, Kaplanis JN. Svoboda JA, et al. Among authors: kaplanis jn. Lipids. 1978 Oct;13(10):742-53. doi: 10.1007/BF02533755. Lipids. 1978. PMID: 27520111
Quantitative analysis of population-scale family trees with millions of relatives.
Kaplanis J, Gordon A, Shor T, Weissbrod O, Geiger D, Wahl M, Gershovits M, Markus B, Sheikh M, Gymrek M, Bhatia G, MacArthur DG, Price AL, Erlich Y. Kaplanis J, et al. Science. 2018 Apr 13;360(6385):171-175. doi: 10.1126/science.aam9309. Epub 2018 Mar 1. Science. 2018. PMID: 29496957 Free PMC article.
Quantifying the contribution of recessive coding variation to developmental disorders.
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study. Martin HC, et al. Among authors: kaplanis j. Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8. Science. 2018. PMID: 30409806 Free PMC article.
46 results