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

Year Number of Results
2002 6
2003 11
2004 5
2005 11
2006 12
2007 13
2008 13
2009 21
2010 13
2011 14
2012 9
2013 9
2014 15
2015 16
2016 12
2017 11
2018 8
2019 12
2020 12
2021 12
2022 1
2023 7
2024 3

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216 results

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Page 1
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.
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N. Mavura Y, et al. Among authors: kwok py. NPJ Genom Med. 2024 Jan 3;9(1):1. doi: 10.1038/s41525-023-00385-6. NPJ Genom Med. 2024. PMID: 38172272 Free PMC article.
Author Correction: 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 Oct 23;8(1):34. doi: 10.1038/s41525-023-00382-9. NPJ Genom Med. 2023. PMID: 37872195 Free PMC article. No abstract available.
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.
Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N. Mavura Y, et al. Among authors: kwok py. medRxiv [Preprint]. 2023 May 24:2023.05.19.23290066. doi: 10.1101/2023.05.19.23290066. medRxiv. 2023. PMID: 37293051 Free PMC article. Preprint.
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.
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.
216 results