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Year | Number of Results |
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1991 | 1 |
2020 | 2 |
2021 | 1 |
2023 | 2 |
2024 | 2 |
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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
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.
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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE.
Jain V, et al. Among authors: corrin s.
Eur J Hum Genet. 2023 Dec;31(12):1421-1429. doi: 10.1038/s41431-023-01447-0. Epub 2023 Sep 14.
Eur J Hum Genet. 2023.
PMID: 37704779
Free PMC article.
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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
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Wales Infants' and childreN's Genome Service (WINGS): providing rapid genetic diagnoses for unwell children.
Sloper E, Jezkova J, Thomas J, Dawson K, Halstead J, Gardner J, Burke K, Oruganti S, Calvert J, Evans J, Anderson S, Corrin S, Pottinger C, Murch O.
Sloper E, et al. Among authors: corrin s.
Arch Dis Child. 2024 Apr 18;109(5):409-413. doi: 10.1136/archdischild-2023-326579.
Arch Dis Child. 2024.
PMID: 38320813
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Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres.
Jezkova J, Heath J, Williams A, Barrell D, Norton J, Collinson MN, Beal SJ, Corrin S, Morgan S.
Jezkova J, et al. Among authors: corrin s.
NPJ Genom Med. 2020 Jul 21;5:28. doi: 10.1038/s41525-020-0136-1. eCollection 2020.
NPJ Genom Med. 2020.
PMID: 32714564
Free PMC article.
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Unchanged hypothalamic neuropeptide Y concentrations in hyperphagic, hypoglycemic rats: evidence for specific metabolic regulation of hypothalamic NPY.
Corrin SE, McCarthy HD, McKibbin PE, Williams G.
Corrin SE, et al.
Peptides. 1991 May-Jun;12(3):425-30. doi: 10.1016/0196-9781(91)90080-9.
Peptides. 1991.
PMID: 1923923
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