Similar articles for PMID: 21415082

Year	Number of Results
2004	2
2005	3
2006	1
2007	3
2008	2
2009	3
2010	5
2011	8
2012	2
2013	9
2014	16
2015	11
2016	7
2017	6
2018	14
2019	6
2020	8
2021	6
2022	4
2023	1
2024	0

1

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.

Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N. Tsurusaki Y, et al. J Med Genet. 2011 Sep;48(9):606-9. doi: 10.1136/jmg.2010.083535. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415082

2

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Scott AF, et al. JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731. JAMA Ophthalmol. 2014. PMID: 24993872

3

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.

Bradshaw G, Lualhati RR, Albury CL, Maksemous N, Roos-Araujo D, Smith RA, Benton MC, Eccles DA, Lea RA, Sutherland HG, Haupt LM, Griffiths LR. Bradshaw G, et al. Front Immunol. 2018 Mar 5;9:420. doi: 10.3389/fimmu.2018.00420. eCollection 2018. Front Immunol. 2018. PMID: 29556235 Free PMC article.

4

Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa.

Lim H, Park YM, Lee JK, Taek Lim H. Lim H, et al. Can J Ophthalmol. 2016 Oct;51(5):326-330. doi: 10.1016/j.jcjo.2016.03.017. Epub 2016 Sep 3. Can J Ophthalmol. 2016. PMID: 27769321

5

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.

Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Clin Genet. 2011 Aug;80(2):161-6. doi: 10.1111/j.1399-0004.2011.01721.x. Epub 2011 Jun 21. Clin Genet. 2011. PMID: 21644943

6

[Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].

Tang S, Jia M, Chen C, Li H, Hu L, Luan Z, Xu X, Lyu J. Tang S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):403-407. doi: 10.3760/cma.j.issn.1003-9406.2018.03.022. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29896742 Chinese.

7

Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.

Fu J, Korwutthikulrangsri M, Ramos-Platt L, Pierson TM, Liao XH, Refetoff S, Weiss RE, Dumitrescu AM. Fu J, et al. Thyroid. 2020 Mar;30(3):463-465. doi: 10.1089/thy.2018.0703. Epub 2020 Jan 24. Thyroid. 2020. PMID: 31856685 Free PMC article.

8

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.

Lin F, Bian F, Zou J, Wu X, Shan J, Lu W, Yao Y, Jiang G, Gale DP. Lin F, et al. BMC Nephrol. 2014 Nov 7;15:175. doi: 10.1186/1471-2369-15-175. BMC Nephrol. 2014. PMID: 25381091 Free PMC article.

9

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

Hong N, Chen YH, Xie C, Xu BS, Huang H, Li X, Yang YQ, Huang YP, Deng JL, Qi M, Gu YS. Hong N, et al. J Zhejiang Univ Sci B. 2014 Aug;15(8):727-34. doi: 10.1631/jzus.B1300321. J Zhejiang Univ Sci B. 2014. PMID: 25091991 Free PMC article.

10

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

Qiao Y, Bagheri H, Tang F, Badduke C, Martell S, Lewis SME, Robinson W, Connolly MB, Arbour L, Rajcan-Separovic E. Qiao Y, et al. Eur J Med Genet. 2019 Feb;62(2):103-108. doi: 10.1016/j.ejmg.2018.06.010. Epub 2018 Jun 13. Eur J Med Genet. 2019. PMID: 29908350

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