Yang Y - Search Results

1

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. Bi W, et al. Among authors: yang y. Am J Med Genet A. 2016 Aug;170(8):2181-5. doi: 10.1002/ajmg.a.37727. Epub 2016 May 12. Am J Med Genet A. 2016. PMID: 27170158 Review.

2

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM. del Gaudio D, et al. Among authors: yang y. Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841. Hum Mutat. 2008. PMID: 18752307

3

Detection of clinically relevant exonic copy-number changes by array CGH.

Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Boone PM, et al. Among authors: yang y. Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2. Hum Mutat. 2010. PMID: 20848651 Free PMC article.

4

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation.

Mendiratta MS, Yang Y, Balazs AE, Willis AS, Eng CM, Karaviti LP, Potocki L. Mendiratta MS, et al. Among authors: yang y. Int J Pediatr Endocrinol. 2011;2011(1):5. doi: 10.1186/1687-9856-2011-5. Epub 2011 Jul 6. Int J Pediatr Endocrinol. 2011. PMID: 21860632 Free PMC article.

5

A novel STXBP1 mutation causes focal seizures with neonatal onset.

Vatta M, Tennison MB, Aylsworth AS, Turcott CM, Guerra MP, Eng CM, Yang Y. Vatta M, et al. Among authors: yang y. J Child Neurol. 2012 Jun;27(6):811-4. doi: 10.1177/0883073811435246. J Child Neurol. 2012. PMID: 22596016

6

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.

Liew WK, Ben-Omran T, Darras BT, Prabhu SP, De Vivo DC, Vatta M, Yang Y, Eng CM, Chung WK. Liew WK, et al. Among authors: yang y. JAMA Neurol. 2013 Jun;70(6):788-91. doi: 10.1001/jamaneurol.2013.247. JAMA Neurol. 2013. PMID: 23699708

7

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Lupski JR, et al. Among authors: yang y. Genome Med. 2013 Jun 27;5(6):57. doi: 10.1186/gm461. eCollection 2013. Genome Med. 2013. PMID: 23806086 Free PMC article.

8

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.

Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y. Tarczy-Hornoch P, et al. Among authors: yang y. Genet Med. 2013 Oct;15(10):824-32. doi: 10.1038/gim.2013.120. Epub 2013 Sep 26. Genet Med. 2013. PMID: 24071794 Free PMC article.

9

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.

10

Genetic diagnosis through whole-exome sequencing.

Eng CM, Yang Y, Plon SE. Eng CM, et al. Among authors: yang y. N Engl J Med. 2014 Mar 13;370(11):1068. doi: 10.1056/NEJMc1315908. N Engl J Med. 2014. PMID: 24620872 No abstract available.

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