Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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 3
2025 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

48 results

Results by year

Filters applied: . Clear all
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 Free PMC article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
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.
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.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2025 Feb;27(2):101305. doi: 10.1016/j.gim.2024.101305. Epub 2024 Oct 24. Genet Med. 2025. PMID: 39489894 Free article.
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.
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.
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.
Allen S, Rowlands CF, Butler S, Durkie M, Horton C, Pesaran T, Richardson M, Robinson R, Garrett A, Burghel GJ, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Snape K, Andreou A, Maher ER, Hanson H, McVeigh T, Turnbull C; CanVIG-UK. Allen S, et al. Genet Med. 2025 Nov;27(11):101565. doi: 10.1016/j.gim.2025.101565. Epub 2025 Sep 4. Genet Med. 2025. PMID: 40916913 Free article.
48 results