Similar articles for PMID: 22581936

Year	Number of Results
2009	1
2011	4
2012	10
2013	10
2014	17
2015	20
2016	13
2017	12
2018	6
2019	6
2020	5
2022	2
2024	0

1

Clinical application of exome sequencing in undiagnosed genetic conditions.

Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB. Need AC, et al. J Med Genet. 2012 Jun;49(6):353-61. doi: 10.1136/jmedgenet-2012-100819. Epub 2012 May 11. J Med Genet. 2012. PMID: 22581936 Free PMC article.

2

What happens when N = 1 and you want plus 1?

Might M, Might CC. Might M, et al. Prenat Diagn. 2017 Jan;37(1):70-72. doi: 10.1002/pd.4975. Epub 2016 Dec 30. Prenat Diagn. 2017. PMID: 27885678

3

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.

4

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Yang Y, et al. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. JAMA. 2014. PMID: 25326635 Free PMC article.

5

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Yang Y, et al. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2. N Engl J Med. 2013. PMID: 24088041 Free PMC article.

6

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC. Lim EC, et al. Hum Genomics. 2015 Dec 14;9:33. doi: 10.1186/s40246-015-0055-x. Hum Genomics. 2015. PMID: 26666243 Free PMC article.

7

Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity.

Maksemous N, Smith RA, Sutherland HG, Sampaio H, Griffiths LR. Maksemous N, et al. Int J Mol Sci. 2018 Oct 11;19(10):3113. doi: 10.3390/ijms19103113. Int J Mol Sci. 2018. PMID: 30314295 Free PMC article.

8

Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery.

[No authors listed] [No authors listed] Am J Med Genet A. 2014 Jul;164A(7):viii-ix. doi: 10.1002/ajmg.a.36644. Am J Med Genet A. 2014. PMID: 24941904 No abstract available.

9

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K. Baasch AL, et al. Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Epilepsia. 2014. PMID: 24579881 Free article. Review.

10

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

Chen Z, Wang JL, Tang BS, Sun ZF, Shi YT, Shen L, Lei LF, Wei XM, Xiao JJ, Hu ZM, Pan Q, Xia K, Zhang QY, Dai MZ, Liu Y, Ashizawa T, Jiang H. Chen Z, et al. Neurobiol Aging. 2013 Oct;34(10):2442.e11-7. doi: 10.1016/j.neurobiolaging.2013.04.029. Epub 2013 May 30. Neurobiol Aging. 2013. PMID: 23726790

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