Yau S - Search Results

1

Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.

Ellard S, Shields B, Tysoe C, Treacy R, Yau S, Mattocks C, Wallace A. Ellard S, et al. Among authors: yau s. Genet Test Mol Biomarkers. 2009 Jun;13(3):381-6. doi: 10.1089/gtmb.2008.0096. Genet Test Mol Biomarkers. 2009. PMID: 19405871

2

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.

3

A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.

Shangaris P, Ho A, Marnerides A, George S, AlAdnani M, Yau S, Jansson M, Hoyle J, Ahn JW, Ellard S, Irving M, Wellesley D, Pasupathy D, Holder-Espinasse M. Shangaris P, et al. Among authors: yau s. BMC Med Genomics. 2021 Feb 26;14(1):58. doi: 10.1186/s12920-021-00901-6. BMC Med Genomics. 2021. PMID: 33637067 Free PMC article.

4

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.

5

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

Ashton EJ, Yau SC, Deans ZC, Abbs SJ. Ashton EJ, et al. Eur J Hum Genet. 2008 Jan;16(1):53-61. doi: 10.1038/sj.ejhg.5201916. Epub 2007 Aug 29. Eur J Hum Genet. 2008. PMID: 17726484

6

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

Yau SC, Bobrow M, Mathew CG, Abbs SJ. Yau SC, et al. J Med Genet. 1996 Jul;33(7):550-8. doi: 10.1136/jmg.33.7.550. J Med Genet. 1996. PMID: 8818939 Free PMC article.

7

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis.

Mann K, Fox SP, Abbs SJ, Yau SC, Scriven PN, Docherty Z, Ogilvie CM. Mann K, et al. Among authors: yau sc. Lancet. 2001 Sep 29;358(9287):1057-61. doi: 10.1016/S0140-6736(01)06183-9. Lancet. 2001. PMID: 11589937

8

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.

Abbs S, Yau SC, Clark S, Mathew CG, Bobrow M. Abbs S, et al. Among authors: yau sc. J Med Genet. 1991 May;28(5):304-11. doi: 10.1136/jmg.28.5.304. J Med Genet. 1991. PMID: 1865467 Free PMC article.

9

Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients.

Ellis D, Patel Y, Yau SC, Hodgson SV, Abbs SJ. Ellis D, et al. Fam Cancer. 2006;5(4):323-6. doi: 10.1007/s10689-006-0001-0. Epub 2006 May 25. Fam Cancer. 2006. PMID: 16724249

10

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study. Hamilton MJ, et al. Among authors: yau s. Clin Dysmorphol. 2016 Oct;25(4):135-45. doi: 10.1097/MCD.0000000000000143. Clin Dysmorphol. 2016. PMID: 27465822

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