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

Year Number of Results
2002 1
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2006 1
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2008 5
2009 3
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2011 8
2012 12
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2014 6
2015 6
2016 13
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2018 11
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2020 21
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2024 6

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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.
Mechanisms of mitochondrial respiratory adaptation.
Bennett CF, Latorre-Muro P, Puigserver P. Bennett CF, et al. Nat Rev Mol Cell Biol. 2022 Dec;23(12):817-835. doi: 10.1038/s41580-022-00506-6. Epub 2022 Jul 8. Nat Rev Mol Cell Biol. 2022. PMID: 35804199 Free PMC article. Review.
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. 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. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
In Reply.
Bennett CL, Raja AS, Kass D, Gross N, Mills AM. Bennett CL, et al. Acad Emerg Med. 2019 Nov;26(11):1303. doi: 10.1111/acem.13828. Epub 2019 Jul 24. Acad Emerg Med. 2019. PMID: 31286614 Free article. No abstract available.
179 results