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

Year Number of Results
1991 2
1992 2
1993 1
1994 1
1996 1
2000 1
2001 3
2002 2
2003 2
2004 1
2006 2
2007 1
2009 2
2010 4
2011 2
2012 4
2014 3
2015 3
2016 1
2017 1
2019 1
2020 3
2021 3
2022 2
2023 2
2024 1

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45 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.
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.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
C. elegans fat storage and metabolic regulation.
Mullaney BC, Ashrafi K. Mullaney BC, et al. Biochim Biophys Acta. 2009 Jun;1791(6):474-8. doi: 10.1016/j.bbalip.2008.12.013. Epub 2009 Jan 3. Biochim Biophys Acta. 2009. PMID: 19168149 Free PMC article. Review.
Neurobiology of Rett syndrome.
Johnston MV, Mullaney B, Blue ME. Johnston MV, et al. Among authors: mullaney b. J Child Neurol. 2003 Oct;18(10):688-92. doi: 10.1177/08830738030180100501. J Child Neurol. 2003. PMID: 14649550 Review.
Cell-cell interactions and the regulation of testis function.
Skinner MK, Norton JN, Mullaney BP, Rosselli M, Whaley PD, Anthony CT. Skinner MK, et al. Among authors: mullaney bp. Ann N Y Acad Sci. 1991;637:354-63. doi: 10.1111/j.1749-6632.1991.tb27322.x. Ann N Y Acad Sci. 1991. PMID: 1785780 Review.
Halogen Bonding in Supramolecular Chemistry.
Gilday LC, Robinson SW, Barendt TA, Langton MJ, Mullaney BR, Beer PD. Gilday LC, et al. Among authors: mullaney br. Chem Rev. 2015 Aug 12;115(15):7118-95. doi: 10.1021/cr500674c. Epub 2015 Jul 13. Chem Rev. 2015. PMID: 26165273 No abstract available.
Representations of Taste Modality in the Drosophila Brain.
Harris DT, Kallman BR, Mullaney BC, Scott K. Harris DT, et al. Among authors: mullaney bc. Neuron. 2015 Jun 17;86(6):1449-60. doi: 10.1016/j.neuron.2015.05.026. Epub 2015 Jun 4. Neuron. 2015. PMID: 26051423 Free PMC article.
45 results