Kwok PY - Search Results

1

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.

Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH. Mostovoy Y, et al. Among authors: kwok py. Genetics. 2021 Feb 9;217(2):iyaa038. doi: 10.1093/genetics/iyaa038. Genetics. 2021. PMID: 33724415 Free PMC article.

2

Direct determination of haplotypes from single DNA molecules.

Xiao M, Wan E, Chu C, Hsueh WC, Cao Y, Kwok PY. Xiao M, et al. Among authors: kwok py. Nat Methods. 2009 Mar;6(3):199-201. doi: 10.1038/nmeth.1301. Epub 2009 Feb 8. Nat Methods. 2009. PMID: 19198595 Free PMC article.

3

Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

Trivedi NN, Tamraz B, Chu C, Kwok PY, Caughey GH. Trivedi NN, et al. Among authors: kwok py. J Allergy Clin Immunol. 2009 Nov;124(5):1099-105.e1-4. doi: 10.1016/j.jaci.2009.07.026. Epub 2009 Sep 12. J Allergy Clin Immunol. 2009. PMID: 19748655 Free PMC article.

4

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. Among authors: kwok py. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.

5

Mitochondrial DNA sequence variation and risk of pancreatic cancer.

Lam ET, Bracci PM, Holly EA, Chu C, Poon A, Wan E, White K, Kwok PY, Pawlikowska L, Tranah GJ. Lam ET, et al. Among authors: kwok py. Cancer Res. 2012 Feb 1;72(3):686-95. doi: 10.1158/0008-5472.CAN-11-1682. Epub 2011 Dec 15. Cancer Res. 2012. PMID: 22174369 Free PMC article.

6

Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly.

Lam ET, Hastie A, Lin C, Ehrlich D, Das SK, Austin MD, Deshpande P, Cao H, Nagarajan N, Xiao M, Kwok PY. Lam ET, et al. Among authors: kwok py. Nat Biotechnol. 2012 Aug;30(8):771-6. doi: 10.1038/nbt.2303. Nat Biotechnol. 2012. PMID: 22797562 Free PMC article.

7

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ. Slavotinek AM, et al. Among authors: kwok py. Hum Mol Genet. 2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16. Hum Mol Genet. 2013. PMID: 23161670 Free PMC article.

8

Tamraz B, Fukushima H, Wolfe AR, Kaspera R, Totah RA, Floyd JS, Ma B, Chu C, Marciante KD, Heckbert SR, Psaty BM, Kroetz DL, Kwok PY. Tamraz B, et al. Among authors: kwok py. Pharmacogenet Genomics. 2013 Jul;23(7):355-64. doi: 10.1097/FPC.0b013e3283620c3b. Pharmacogenet Genomics. 2013. PMID: 23652407 Free PMC article.

9

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.

O'Bleness M, Searles VB, Dickens CM, Astling D, Albracht D, Mak AC, Lai YY, Lin C, Chu C, Graves T, Kwok PY, Wilson RK, Sikela JM. O'Bleness M, et al. Among authors: kwok py. BMC Genomics. 2014 May 20;15(1):387. doi: 10.1186/1471-2164-15-387. BMC Genomics. 2014. PMID: 24885025 Free PMC article.

10

Prioritizing genes for X-linked diseases using population exome data.

Ge X, Kwok PY, Shieh JT. Ge X, et al. Among authors: kwok py. Hum Mol Genet. 2015 Feb 1;24(3):599-608. doi: 10.1093/hmg/ddu473. Epub 2014 Sep 12. Hum Mol Genet. 2015. PMID: 25217573 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

299 results

Search Page

Filters