Andrews D - Search Results

1

Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.

Arsov T, Sestan M, Cekada N, Frkovic M, Andrews D, He Y, Shen N, Vinuesa CG, Jelusic M. Arsov T, et al. Among authors: andrews d. Eur J Med Genet. 2019 Jun;62(6):103538. doi: 10.1016/j.ejmg.2018.09.005. Epub 2018 Sep 11. Eur J Med Genet. 2019. PMID: 30213761

2

Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.

Arsov T, Kelecic J, Frkovic SH, Sestan M, Kifer N, Andrews D, Adamski M, Jelusic M, Cook MC. Arsov T, et al. Among authors: andrews d. Eur J Med Genet. 2021 Dec;64(12):104347. doi: 10.1016/j.ejmg.2021.104347. Epub 2021 Oct 4. Eur J Med Genet. 2021. PMID: 34619368

3

Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones.

Arsov T, Xie C, Shen N, Andrews D, Vinuesa CG, Vaskova O. Arsov T, et al. Among authors: andrews d. Thyroid Res. 2019 Jul 15;12:7. doi: 10.1186/s13044-019-0068-y. eCollection 2019. Thyroid Res. 2019. PMID: 31341516 Free PMC article.

4

Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome.

Johar AS, Mastronardi C, Rojas-Villarraga A, Patel HR, Chuah A, Peng K, Higgins A, Milburn P, Palmer S, Silva-Lara MF, Velez JI, Andrews D, Field M, Huttley G, Goodnow C, Anaya JM, Arcos-Burgos M. Johar AS, et al. Among authors: andrews d. J Transl Med. 2015 Jun 2;13:173. doi: 10.1186/s12967-015-0525-x. J Transl Med. 2015. PMID: 26031516 Free PMC article.

5

Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture.

Johar AS, Anaya JM, Andrews D, Patel HR, Field M, Goodnow C, Arcos-Burgos M. Johar AS, et al. Among authors: andrews d. Autoimmun Rev. 2015 Mar;14(3):204-9. doi: 10.1016/j.autrev.2014.10.021. Epub 2014 Nov 1. Autoimmun Rev. 2015. PMID: 25447288 Free article. Review.

6

ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes.

Yabas M, Teh CE, Frankenreiter S, Lal D, Roots CM, Whittle B, Andrews DT, Zhang Y, Teoh NC, Sprent J, Tze LE, Kucharska EM, Kofler J, Farell GC, Bröer S, Goodnow CC, Enders A. Yabas M, et al. Among authors: andrews dt. Nat Immunol. 2011 May;12(5):441-9. doi: 10.1038/ni.2011. Epub 2011 Mar 20. Nat Immunol. 2011. PMID: 21423173 Free PMC article.

7

A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.

Taupin D, Lam W, Rangiah D, McCallum L, Whittle B, Zhang Y, Andrews D, Field M, Goodnow CC, Cook MC. Taupin D, et al. Among authors: andrews d. Hum Genome Var. 2015 Apr 16;2:15013. doi: 10.1038/hgv.2015.13. eCollection 2015. Hum Genome Var. 2015. PMID: 27081527 Free PMC article.

8

Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100.

Lee CE, Fulcher DA, Whittle B, Chand R, Fewings N, Field M, Andrews D, Goodnow CC, Cook MC. Lee CE, et al. Among authors: andrews d. Blood. 2014 Nov 6;124(19):2964-72. doi: 10.1182/blood-2014-06-578542. Epub 2014 Sep 18. Blood. 2014. PMID: 25237204 Free PMC article.

9

StabilitySort: assessment of protein stability changes on a genome-wide scale to prioritize potentially pathogenic genetic variation.

Chuah A, Li S, Do A, Field M, Andrews D. Chuah A, et al. Among authors: andrews d. Bioinformatics. 2022 Sep 2;38(17):4220-4222. doi: 10.1093/bioinformatics/btac465. Bioinformatics. 2022. PMID: 35801945

10

Echocardiographic predictors of surgical outcomes in pulmonary atresia with intact ventricular septum and development of a discriminatory calculator: an Australian tertiary institution experience.

Justo E, Tarca A, McKinnon E, Bruce D, Maslin K, MacDonald B, Saundankar J, Andrews D, Shipton S, Yim D. Justo E, et al. Among authors: andrews d. Cardiol Young. 2025 Jan 9:1-8. doi: 10.1017/S1047951124036205. Online ahead of print. Cardiol Young. 2025. PMID: 39780473

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