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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1992 1
1994 2
1995 1
1996 2
1997 3
1998 9
1999 8
2000 7
2001 15
2002 6
2003 12
2004 6
2005 12
2006 13
2007 14
2008 13
2009 22
2010 14
2011 17
2012 11
2013 10
2014 17
2015 18
2016 14
2017 12
2018 8
2019 12
2020 12
2021 12
2022 1
2023 7
2024 4

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282 results

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Page 1
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. Adhikari AN, et al. Among authors: kwok py. Nat Med. 2020 Sep;26(9):1392-1397. doi: 10.1038/s41591-020-0966-5. Epub 2020 Aug 10. Nat Med. 2020. PMID: 32778825 Free PMC article.
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W, Wong KHY, Liu Y, Levy-Sakin M, Hung WC, Li M, Li B, Jin SC, Choi J, Lopez-Giraldez F, Vaka D, Poon A, Chu C, Lao R, Balamir M, Movsesyan I, Malloy MJ, Zhao H, Kwok PY, Kane JP, Lifton RP, Pullinger CR. Dong W, et al. Among authors: kwok py. J Lipid Res. 2022 Jun;63(6):100209. doi: 10.1016/j.jlr.2022.100209. Epub 2022 Apr 20. J Lipid Res. 2022. PMID: 35460704 Free PMC article.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: kwok py. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Arteriovenous malformation.
Young WL, Kwok PY, Pawlikowska L, Lawton MT, Kim H, Hysi PG, Marchuk DA. Young WL, et al. Among authors: kwok py. J Neurosurg. 2007 Apr;106(4):731-2; author reply 732-3. doi: 10.3171/jns.2007.106.4.731. J Neurosurg. 2007. PMID: 17432733 No abstract available.
Single nucleotide polymorphism hunting in cyberspace.
Gu Z, Hillier L, Kwok PY. Gu Z, et al. Among authors: kwok py. Hum Mutat. 1998;12(4):221-5. doi: 10.1002/(SICI)1098-1004(1998)12:4<221::AID-HUMU1>3.0.CO;2-I. Hum Mutat. 1998. PMID: 9744471 Review.
South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.
Wall JD, Sathirapongsasuti JF, Gupta R, Rasheed A, Venkatesan R, Belsare S, Menon R, Phalke S, Mittal A, Fang J, Tanneeru D, Deshmukh M, Bassi A, Robinson J, Chaudhary R, Murugan S, Ul-Asar Z, Saleem I, Ishtiaq U, Fatima A, Sheikh SS, Hameed S, Ishaq M, Rasheed SZ, Memon FU, Jalal A, Abbas S, Frossard P, Fuchsberger C, Forer L, Schoenherr S, Bei Q, Bhangale T, Tom J, Gadde SGK, B V P, Naik NK, Wang M, Kwok PY, Khera AV, Lakshmi BR, Butterworth AS, Chowdhury R, Danesh J, di Angelantonio E, Naheed A, Goyal V, Kandadai RM, Kumar H, Borgohain R, Mukherjee A, Wadia PM, Yadav R, Desai S, Kumar N, Biswas A, Pal PK, Muthane UB, Das SK, Ramprasad VL, Kukkle PL, Seshagiri S, Kathiresan S, Ghosh A, Mohan V, Saleheen D, Stawiski EW, Peterson AS. Wall JD, et al. Among authors: kwok py. Nat Commun. 2023 Jun 8;14(1):3377. doi: 10.1038/s41467-023-38766-1. Nat Commun. 2023. PMID: 37291107 Free PMC article.
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ, Lin TY, Hsieh FJ, Chien JY, Yeh EC, Lin WJ, Chen YH, Ding KH, Yang Y, Chi SC, Tsai PH, Hsu CC, Hwang DK, Tsai HY, Peng ML, Lee SH, Chau SF, Chen CY, Cheang WM, Chen SJ, Kwok PY, Chiou SH, Lu MJ, Huang SP. Kao HJ, et al. Among authors: kwok py. NPJ Genom Med. 2024 Jan 9;9(1):4. doi: 10.1038/s41525-023-00388-3. NPJ Genom Med. 2024. PMID: 38195571 Free PMC article.
282 results