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Year Number of Results
1983 2
1984 2
1985 1
1986 3
1987 13
1988 8
1989 3
1990 1
1991 3
1992 3
1993 1
1994 4
1995 2
1996 5
1997 4
1998 10
1999 11
2000 8
2001 19
2002 8
2003 20
2004 9
2005 18
2006 18
2007 21
2008 17
2009 28
2010 21
2011 27
2012 16
2013 18
2014 26
2015 26
2016 16
2017 22
2018 14
2019 18
2020 24
2021 22
2022 7
2023 14
2024 10
2025 16
2026 6

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497 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.
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants.
Liu H, Abedini A, Ha E, Ma Z, Sheng X, Dumoulin B, Qiu C, Aranyi T, Li S, Dittrich N, Chen HC, Tao R, Tarng DC, Hsieh FJ, Chen SA, Yang SF, Lee MY, Kwok PY, Wu JY, Chen CH, Khan A, Limdi NA, Wei WQ, Walunas TL, Karlson EW, Kenny EE, Luo Y, Kottyan L, Connolly JJ, Jarvik GP, Weng C, Shang N, Cole JB, Mercader JM, Mandla R, Majarian TD, Florez JC, Haas ME, Lotta LA; Regeneron Genetics Center‡; GHS-RGC DiscovEHR Collaboration§; Drivas TG; Penn Medicine BioBank¶; Vy HMT, Nadkarni GN, Wiley LK, Wilson MP, Gignoux CR, Rasheed H, Thomas LF, Åsvold BO, Brumpton BM, Hallan SI, Hveem K, Zheng J, Hellwege JN, Zawistowski M, Zöllner S, Franceschini N, Hu H, Zhou J, Kiryluk K, Ritchie MD, Palmer M, Edwards TL, Voight BF, Hung AM, Susztak K; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Penn Medicine BioBank. Liu H, et al. Among authors: kwok py. Science. 2025 Feb 7;387(6734):eadp4753. doi: 10.1126/science.adp4753. Epub 2025 Feb 7. Science. 2025. PMID: 39913582 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.
Population-specific polygenic risk scores for people of Han Chinese ancestry.
Chen HH, Chen CH, Hou MC, Fu YC, Li LH, Chou CY, Yeh EC, Tsai MF, Chen CH, Yang HC, Huang YT, Liu YM, Wei CY, Su JP, Lin WJ, Wang EHF, Chiang CL, Jiang JK, Lee IH, Liang KH, Chen WS, Tsai HC, Lin SY, Chang FP, Ho HL, Yeh YC, Tseng WC, Lin MH, Chang HT, Tseng LM, Liang WY, Chen PC, Hsieh YC, Chen YM, Hsiao TH, Lin CH, Chen YJ, Chen IC, Mao CL, Chang SJ, Chang YL, Liao YJ, Lai CH, Lee WJ, Tung H, Yen TT, Yen HC, Chen MY, Lin YC, Kao YT, Kao BZ, Lee JE, Chung CL, Liu JC, Chan P, Lin CH, Chen CH, Wu IC, Lin LC, Wang JW, Shih SL, Hsieh SW, Hung CH, Li WM, Yang CJ, Yang CS, Weng RH, Chen YC, Chang CP, Wu TH, Lin YC, Sheen YJ, Wang SH, Chen SP, Raben T, Widen E, Hsu S, Hsieh FJ, Ho DR, Huang YH, Yang CH, Huang YS, Chen YF, Wu HM, Tsai PH, Huang KG, Chien CY, Ho YL, Wu MS, Kao JH, Liu YB, Juang JJ, Lin MH, Lin YH, Lee JY, Lu HJ, Lu CH, Feng AC, Liu JS, Chiang CP, Chu NF, Lin JC, Yeh YW, Meng E, Huang CY, Li CC, Wang TF, Su KY, Wang JK, Chen MH, Chen HF, Ma GC, Chang TY, Chiang FT, Chang HJ, Kao KJ, Hung CF, Tsai CY, Chen PY, Tsui K, Chen YT, Kwok PY, Sheu WH, Yang SF, Liou JM, Wang JY, Chiou JF, Wu JY, Fann CSJ. Chen HH, et al. Among authors: kwok py. Nature. 2025 Dec;648(8092):128-137. doi: 10.1038/s41586-025-09350-y. Epub 2025 Oct 15. Nature. 2025. PMID: 41094136 Free PMC article.
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Slavotinek A, et al. Among authors: kwok py. NPJ Genom Med. 2023 May 26;8(1):10. doi: 10.1038/s41525-023-00353-0. NPJ Genom Med. 2023. PMID: 37236975 Free PMC article.
The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies.
Yang HC, Kwok PY, Li LH, Liu YM, Jong YJ, Lee KY, Wang DW, Tsai MF, Yang JH, Chen CH, Yeh EC, Wei CY, Fann CS, Huang YT, Chen CW, Lee YJ, Chu SK, Ho CH, Yang CS, Lee YL, Chen HH, Hou MC, Chiou JF, Yang SF, Wang CH, Huang CY, Chiu KM, Chen M, Chiang FT, Lee SL, Chen SS, Yao WJ, Chien CC, Lin SY, Chang FP, Ho HL, Yeh YC, Tseng WC, Lin MH, Chang HT, Tseng LM, Liang WY, Chen PC, Hang JF, Lin SC, Chan YJ, Kuo YJ, Wang LC, Pan CC, Hsieh YC, Chen YM, Hsiao TH, Lin CH, Chen YJ, Chen IC, Mao CL, Chang SJ, Chang YL, Liao YJ, Lai CH, Lee WJ, Tung H, Yen TT, Yen HC, Shih CM, Chou TY, Liou TH, Chiang CY, Cherng YG, Chen CH, Chiu CH, Tseng SH, Lin EP, Chen YJ, Chuang HP, Chen TC, Huang WT, Sin J, Liu IL, Chen YC, Chao KK, Wu YM, Yu PP, Chang LP, Yen KY, Chang LC, Sheen YJ, Chen YT, Kan K, Tsai HL, Wang YK, Hou MF, Yang YH, Kuo CH, Wu WJ, Huang JF, Chong IW, Tsai JR, Lin CY, Yu MC, Lee TH, Tsai MH, Ou YC, Chen PY, Hu TH, Shyu YC, Cheng CK, Fang YJ, Hsieh SC, Chen CH, Chen CC, Li KJ, Lin CH, Chiu HY, Wu CC, Chen CY, Chu SJ, Liu FC, Yang FC, Chang HA, Chen WL, Yang SS, Sung YF, Wang TF, Lin SZ, Wu YW, Wu CS, Jiang JY, Ma GC, Chang TY, Hwang JJ, Kao KJ, Hung CF, Chiu TF, Chen PY, Tsui K, Wu … See abstract for full author list ➔ Yang HC, et al. Among authors: kwok py. Nature. 2025 Dec;648(8092):117-127. doi: 10.1038/s41586-025-09680-x. Epub 2025 Oct 15. Nature. 2025. PMID: 41092961 Free PMC article.
Advances in Inhalation Drug Delivery.
Kwok PCL. Kwok PCL. Curr Pharm Des. 2021;27(12):1435. doi: 10.2174/138161282712210421084343. Curr Pharm Des. 2021. PMID: 34060993 No abstract available.
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH; European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group. Bausch B, et al. Among authors: kwok p. JAMA Oncol. 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223. JAMA Oncol. 2017. PMID: 28384794 Free PMC article.
497 results