Thomas NS - Search Results

1

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Among authors: thomas ns. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.

2

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Among authors: thomas ns. Genet Med. 2020 Jun;22(6):1129. doi: 10.1038/s41436-020-0789-2. Genet Med. 2020. PMID: 32235935 Free PMC article.

3

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

Blakes AJM, Wai HA, Davies I, Moledina HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, Lees M, Pichini A, Smithson SF, Taylor Tavares AL, O'Donovan P, Douglas AGL; Genomics England Research Consortium, Splicing and Disease Working Group; Whiffin N, Baralle D, Lord J. Blakes AJM, et al. Among authors: thomas t, thomas ns. Genome Med. 2022 Jul 26;14(1):79. doi: 10.1186/s13073-022-01087-x. Genome Med. 2022. PMID: 35883178 Free PMC article.

4

Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.

Cross E, Duncan-Flavell PJ, Howarth RJ, Hobbs JI, Thomas NS, Bunyan DJ. Cross E, et al. Among authors: thomas ns. Am J Med Genet A. 2020 Nov;182(11):2508-2520. doi: 10.1002/ajmg.a.61813. Epub 2020 Aug 21. Am J Med Genet A. 2020. PMID: 32827181

5

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.

Bunyan DJ, Baker KR, Harvey JF, Thomas NS. Bunyan DJ, et al. Among authors: thomas ns. Am J Med Genet A. 2013 Jun;161A(6):1329-38. doi: 10.1002/ajmg.a.35919. Epub 2013 May 1. Am J Med Genet A. 2013. PMID: 23636926

6

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.

Bunyan DJ, Thomas NS. Bunyan DJ, et al. Among authors: thomas ns. Eur J Med Genet. 2019 Jul;62(7):103668. doi: 10.1016/j.ejmg.2019.05.007. Epub 2019 May 8. Eur J Med Genet. 2019. PMID: 31077882

7

Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.

Cross E, Duncan-Flavell PJ, Howarth RJ, Crooks RO, Thomas NS, Bunyan DJ. Cross E, et al. Among authors: thomas ns. Eur J Med Genet. 2020 Jul;63(7):103940. doi: 10.1016/j.ejmg.2020.103940. Epub 2020 Apr 30. Eur J Med Genet. 2020. PMID: 32360764

8

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF. Edgerley K, et al. Among authors: thomas ns. Am J Med Genet A. 2021 Apr;185(4):1228-1235. doi: 10.1002/ajmg.a.62072. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33439541 Free article.

9

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Mercer CL, Lachlan K, Karcanias A, Affara N, Huang S, Jacobs PA, Thomas NS. Mercer CL, et al. Among authors: thomas ns. Eur J Med Genet. 2013 Jan;56(1):1-6. doi: 10.1016/j.ejmg.2012.08.012. Epub 2012 Oct 8. Eur J Med Genet. 2013. PMID: 23059468

10

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.

Thomas NS, Harvey JF, Bunyan DJ, Rankin J, Grigelioniene G, Bruno DL, Tan TY, Tomkins S, Hastings R. Thomas NS, et al. Am J Med Genet A. 2009 Jul;149A(7):1407-14. doi: 10.1002/ajmg.a.32914. Am J Med Genet A. 2009. PMID: 19533800

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