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

Year Number of Results
2000 1
2002 2
2005 3
2006 2
2007 5
2008 1
2009 3
2011 2
2013 3
2014 2
2015 1
2017 2
2018 3
2019 3
2020 2
2021 4
2022 0
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37 results
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Page 1
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Szustakowski JD, Balasubramanian S, Kvikstad E, Khalid S, Bronson PG, Sasson A, Wong E, Liu D, Wade Davis J, Haefliger C, Katrina Loomis A, Mikkilineni R, Noh HJ, Wadhawan S, Bai X, Hawes A, Krasheninina O, Ulloa R, Lopez AE, Smith EN, Waring JF, Whelan CD, Tsai EA, Overton JD, Salerno WJ, Jacob H, Szalma S, Runz H, Hinkle G, Nioi P, Petrovski S, Miller MR, Baras A, Mitnaul LJ, Reid JG; UKB-ESC Research Team. Szustakowski JD, et al. Nat Genet. 2021 Jul;53(7):942-948. doi: 10.1038/s41588-021-00885-0. Epub 2021 Jun 28. Nat Genet. 2021. PMID: 34183854 Review.
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Kosmicki JA, Horowitz JE, Banerjee N, Lanche R, Marcketta A, Maxwell E, Bai X, Sun D, Backman JD, Sharma D, Kury FSP, Kang HM, O'Dushlaine C, Yadav A, Mansfield AJ, Li AH, Watanabe K, Gurski L, McCarthy SE, Locke AE, Khalid S, O'Keeffe S, Mbatchou J, Chazara O, Huang Y, Kvikstad E, O'Neill A, Nioi P, Parker MM, Petrovski S, Runz H, Szustakowski JD, Wang Q, Wong E, Cordova-Palomera A, Smith EN, Szalma S, Zheng X, Esmaeeli S, Davis JW, Lai YP, Chen X, Justice AE, Leader JB, Mirshahi T, Carey DJ, Verma A, Sirugo G, Ritchie MD, Rader DJ, Povysil G, Goldstein DB, Kiryluk K, Pairo-Castineira E, Rawlik K, Pasko D, Walker S, Meynert A, Kousathanas A, Moutsianas L, Tenesa A, Caulfield M, Scott R, Wilson JF, Baillie JK, Butler-Laporte G, Nakanishi T, Lathrop M, Richards JB; Regeneron Genetics Center; UKB Exome Sequencing Consortium, Jones M, Balasubramanian S, Salerno W, Shuldiner AR, Marchini J, Overton JD, Habegger L, Cantor MN, Reid JG, Baras A, Abecasis GR, Ferreira MAR. Kosmicki JA, et al. Among authors: szustakowski jd. Am J Hum Genet. 2021 Jul 1;108(7):1350-1355. doi: 10.1016/j.ajhg.2021.05.017. Epub 2021 Jun 3. Am J Hum Genet. 2021. PMID: 34115965 Free PMC article.
A catalog of associations between rare coding variants and COVID-19 outcomes.
Kosmicki JA, Horowitz JE, Banerjee N, Lanche R, Marcketta A, Maxwell E, Bai X, Sun D, Backman JD, Sharma D, Kang HM, O'Dushlaine C, Yadav A, Mansfield AJ, Li AH, Watanabe K, Gurski L, McCarthy SE, Locke AE, Khalid S, O'Keeffe S, Mbatchou J, Chazara O, Huang Y, Kvikstad E, O'Neill A, Nioi P, Parker MM, Petrovski S, Runz H, Szustakowski JD, Wang Q, Wong E, Cordova-Palomera A, Smith EN, Szalma S, Zheng X, Esmaeeli S, Davis JW, Lai YP, Chen X, Justice AE, Leader JB, Mirshahi T, Carey DJ, Verma A, Sirugo G, Ritchie MD, Rader DJ, Povysil G, Goldstein DB, Kiryluk K, Pairo-Castineira E, Rawlik K, Pasko D, Walker S, Meynert A, Kousathanas A, Moutsianas L, Tenesa A, Caulfield M, Scott R, Wilson JF, Baillie JK, Butler-Laporte G, Nakanishi T, Lathrop M, Richards JB, Jones M, Balasubramanian S, Salerno W, Shuldiner AR, Marchini J, Overton JD, Habegger L, Cantor MN, Reid JG, Baras A, Abecasis GR, Ferreira MA. Kosmicki JA, et al. Among authors: szustakowski jd. medRxiv. 2021 Feb 27:2020.10.28.20221804. doi: 10.1101/2020.10.28.20221804. Preprint. medRxiv. 2021. PMID: 33655273 Free PMC article.
Modeling performance of sample collection sites using whole exome sequencing metrics.
Kalinava N, Apfel A, Cartmell R, Srinivasan S, Chien MS, Kim KI, Golhar R, Bednarz KE, Pant S, Szustakowski J, Chasalow SD, Sasson A, Kirov S. Kalinava N, et al. Among authors: szustakowski j. Biotechniques. 2020 Dec;69(6):420-426. doi: 10.2144/btn-2020-0086. Epub 2020 Oct 26. Biotechniques. 2020. PMID: 33103912 Free article.
First-Line Nivolumab Plus Ipilimumab in Advanced Non-Small-Cell Lung Cancer (CheckMate 568): Outcomes by Programmed Death Ligand 1 and Tumor Mutational Burden as Biomarkers.
Ready N, Hellmann MD, Awad MM, Otterson GA, Gutierrez M, Gainor JF, Borghaei H, Jolivet J, Horn L, Mates M, Brahmer J, Rabinowitz I, Reddy PS, Chesney J, Orcutt J, Spigel DR, Reck M, O'Byrne KJ, Paz-Ares L, Hu W, Zerba K, Li X, Lestini B, Geese WJ, Szustakowski JD, Green G, Chang H, Ramalingam SS. Ready N, et al. Among authors: szustakowski jd. J Clin Oncol. 2019 Apr 20;37(12):992-1000. doi: 10.1200/JCO.18.01042. Epub 2019 Feb 20. J Clin Oncol. 2019. PMID: 30785829 Free PMC article. Clinical Trial.
Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in Combination with Ipilimumab in Small-Cell Lung Cancer.
Hellmann MD, Callahan MK, Awad MM, Calvo E, Ascierto PA, Atmaca A, Rizvi NA, Hirsch FR, Selvaggi G, Szustakowski JD, Sasson A, Golhar R, Vitazka P, Chang H, Geese WJ, Antonia SJ. Hellmann MD, et al. Among authors: szustakowski jd. Cancer Cell. 2019 Feb 11;35(2):329. doi: 10.1016/j.ccell.2019.01.011. Cancer Cell. 2019. PMID: 30753829 Free article. No abstract available.
STK11/LKB1 Mutations and PD-1 Inhibitor Resistance in KRAS-Mutant Lung Adenocarcinoma.
Skoulidis F, Goldberg ME, Greenawalt DM, Hellmann MD, Awad MM, Gainor JF, Schrock AB, Hartmaier RJ, Trabucco SE, Gay L, Ali SM, Elvin JA, Singal G, Ross JS, Fabrizio D, Szabo PM, Chang H, Sasson A, Srinivasan S, Kirov S, Szustakowski J, Vitazka P, Edwards R, Bufill JA, Sharma N, Ou SI, Peled N, Spigel DR, Rizvi H, Aguilar EJ, Carter BW, Erasmus J, Halpenny DF, Plodkowski AJ, Long NM, Nishino M, Denning WL, Galan-Cobo A, Hamdi H, Hirz T, Tong P, Wang J, Rodriguez-Canales J, Villalobos PA, Parra ER, Kalhor N, Sholl LM, Sauter JL, Jungbluth AA, Mino-Kenudson M, Azimi R, Elamin YY, Zhang J, Leonardi GC, Jiang F, Wong KK, Lee JJ, Papadimitrakopoulou VA, Wistuba II, Miller VA, Frampton GM, Wolchok JD, Shaw AT, Jänne PA, Stephens PJ, Rudin CM, Geese WJ, Albacker LA, Heymach JV. Skoulidis F, et al. Among authors: szustakowski j. Cancer Discov. 2018 Jul;8(7):822-835. doi: 10.1158/2159-8290.CD-18-0099. Epub 2018 May 17. Cancer Discov. 2018. PMID: 29773717 Free PMC article. Clinical Trial.
Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in Combination with Ipilimumab in Small-Cell Lung Cancer.
Hellmann MD, Callahan MK, Awad MM, Calvo E, Ascierto PA, Atmaca A, Rizvi NA, Hirsch FR, Selvaggi G, Szustakowski JD, Sasson A, Golhar R, Vitazka P, Chang H, Geese WJ, Antonia SJ. Hellmann MD, et al. Among authors: szustakowski jd. Cancer Cell. 2018 May 14;33(5):853-861.e4. doi: 10.1016/j.ccell.2018.04.001. Epub 2018 May 3. Cancer Cell. 2018. PMID: 29731394 Free PMC article.
Nivolumab plus Ipilimumab in Lung Cancer with a High Tumor Mutational Burden.
Hellmann MD, Ciuleanu TE, Pluzanski A, Lee JS, Otterson GA, Audigier-Valette C, Minenza E, Linardou H, Burgers S, Salman P, Borghaei H, Ramalingam SS, Brahmer J, Reck M, O'Byrne KJ, Geese WJ, Green G, Chang H, Szustakowski J, Bhagavatheeswaran P, Healey D, Fu Y, Nathan F, Paz-Ares L. Hellmann MD, et al. Among authors: szustakowski j. N Engl J Med. 2018 May 31;378(22):2093-2104. doi: 10.1056/NEJMoa1801946. Epub 2018 Apr 16. N Engl J Med. 2018. PMID: 29658845 Free PMC article. Clinical Trial.
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, Ersland KM, Grayson W, Buechmann-Moller S, Sundnes O, Nirmala N, Morgan TM, van Bokhoven H, Steen VM, Hull PR, Szustakowski J, Staedtler F, Zhou H, Fiskerstrand T, Ramsay M. Ngcungcu T, et al. Among authors: szustakowski j. Am J Hum Genet. 2017 May 4;100(5):737-750. doi: 10.1016/j.ajhg.2017.03.012. Epub 2017 Apr 27. Am J Hum Genet. 2017. PMID: 28457472 Free PMC article.
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschké P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NAS, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S. Bizet AA, et al. Among authors: szustakowski jd. Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666. Nat Commun. 2015. PMID: 26487268 Free PMC article.
The use of haplotype-specific transcripts improves sample annotation consistency.
Hartmann N, Luesink E, Khokhlovich E, Szustakowski JD, Baeriswyl L, Peterson J, Scherer A, Nanguneri NR, Staedtler F. Hartmann N, et al. Among authors: szustakowski jd. Biomark Res. 2014 Sep 30;2:17. doi: 10.1186/2050-7771-2-17. eCollection 2014. Biomark Res. 2014. PMID: 25285214 Free PMC article.
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.
Kaufman KM, Linghu B, Szustakowski JD, Husami A, Yang F, Zhang K, Filipovich AH, Fall N, Harley JB, Nirmala NR, Grom AA. Kaufman KM, et al. Among authors: szustakowski jd. Arthritis Rheumatol. 2014 Dec;66(12):3486-95. doi: 10.1002/art.38793. Arthritis Rheumatol. 2014. PMID: 25047945 Free PMC article.
LMX1B mutations cause hereditary FSGS without extrarenal involvement.
Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tête MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschké P, Gubler MC, Johnson KJ, Chibout SD, Antignac C. Boyer O, et al. Among authors: szustakowski jd. J Am Soc Nephrol. 2013 Jul;24(8):1216-22. doi: 10.1681/ASN.2013020171. Epub 2013 May 16. J Am Soc Nephrol. 2013. PMID: 23687361 Free PMC article.
Bioinformatics analysis of microarray data.
Zhang Y, Szustakowski J, Schinke M. Zhang Y, et al. Among authors: szustakowski j. Methods Mol Biol. 2009;573:259-84. doi: 10.1007/978-1-60761-247-6_15. Methods Mol Biol. 2009. PMID: 19763933 Review.
Transcriptome changes in renal allograft protocol biopsies at 3 months precede the onset of interstitial fibrosis/tubular atrophy (IF/TA) at 6 months.
Scherer A, Gwinner W, Mengel M, Kirsch T, Raulf F, Szustakowski JD, Hartmann N, Staedtler F, Engel G, Klupp J, Korn A, Kehren J, Haller H. Scherer A, et al. Among authors: szustakowski jd. Nephrol Dial Transplant. 2009 Aug;24(8):2567-75. doi: 10.1093/ndt/gfp183. Epub 2009 Apr 27. Nephrol Dial Transplant. 2009. PMID: 19398767
From proteomics to systems biology of bacterial pathogens: approaches, tools, and applications.
Plikat U, Voshol H, Dangendorf Y, Wiedmann B, Devay P, Müller D, Wirth U, Szustakowski J, Chirn GW, Inverardi B, Puyang X, Brown K, Kamp H, Hoving S, Ruchti A, Brendlen N, Peterson R, Buco J, Oostrum Jv, Peitsch MC. Plikat U, et al. Among authors: szustakowski j. Proteomics. 2007 Mar;7(6):992-1003. doi: 10.1002/pmic.200600925. Proteomics. 2007. PMID: 17370256
Computational identification of operons in microbial genomes.
Zheng Y, Szustakowski JD, Fortnow L, Roberts RJ, Kasif S. Zheng Y, et al. Among authors: szustakowski jd. Genome Res. 2002 Aug;12(8):1221-30. doi: 10.1101/gr.200602. Genome Res. 2002. PMID: 12176930 Free PMC article.
Protein structure alignment using a genetic algorithm.
Szustakowski JD, Weng Z. Szustakowski JD, et al. Proteins. 2000 Mar 1;38(4):428-40. doi: 10.1002/(sici)1097-0134(20000301)38:4<428::aid-prot8>3.0.co;2-n. Proteins. 2000. PMID: 10707029