Steven G. Rozen, Ph.D. Curriculum Vitae Associate Dean of Research Informatics Professor, Cancer and Stem Cell Biology Program Duke-NUS Medical School

Background Education Ph.D. Courant Institute of Mathematical Sciences at New York University, Computer Science (advisor: Dennis Shasha). Dissertation topic: automatic physical database design M.S. Courant Institute at New York University, Computer Science B.A. cum laude, University of California at Riverside Academic and Research Positions 2015-present Professor with tenure, Duke-NUS Medical School, Singapore 2016-present Associate Dean of Research Informatics, Duke-NUS Medical School, Singapore 2012-2021 Director, Duke-NUS Centre for 2008-2015 Associate Professor with tenure, Duke-NUS Medical School Singapore 2010-present Associate Professor Track V, Department of Psychiatry and Behavioral Sciences, Duke University School of Medicine 2019-present Joint appointment as professor, SingHealth Duke-NUS Global Health Institute 2015-present Research Scientist, National Heart Research Institute Singapore 2009-2021 Faculty Member, National University of Singapore Graduate School for Integrative Sciences and Engineering 2019-2021 Co-Advisor to SingHealth Strategy Group 9: Innovation and Digital Strategies. 2015-2018 Interim Chief Information Officer, PRISM (PRecISion Medicine Institute of SingHealth and Duke-NUS) 2014-2015 Visiting Scientist, National Heart Research Institute Singapore 1993-2008 Research Scientist (1994-2008) Whitehead Institute, Cambridge MA 1996-2008 Consultant (part-time) 1999-2001 Director of yearly, intensive course, Bioinformatics: Writing Software for Genome Research, Cold Spring Harbor Laboratory, New York 1989-1993 Research Software Engineer, Software Options, Inc. (research funded by the Defense Advanced Research Projects Agency), Cambridge, MA 1988-1989 Graduate Assistant/Instructor, Department of Computer Science, Courant Institute at New York University, New York Other professional experience 1995-1997 Database consultant (part-time) Marble Associates Inc., Boston MA 1986-1988 Database architect and software engineer, Prudential-Bache Securities, New York 1983-1986 Information technology specialist and programmer, Chemical Bank, New York

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Teaching and Mentoring 2018-present Director and faculty for the graduate-level course Core Concepts in Bioinformatics at Duke-NUS 2016-present Chair of Executive Committee of the Duke-NUS PhD Programme in Quantitative Biology and Medicine (QBM, https://www.duke- nus.edu.sg/education/our-programmes/phd/qbm-phd) 2017-present Duke-NUS Medical School, Singapore Ph.D. Programme in Quantitative Biology and Medicine (QBM); current students: WU Yang, JIANG Nanhai, HUANG Chen-Yang 2012–present Duke-NUS Medical School, Singapore Ph.D. Programme in Integrated Biology and Medicine; students: Mini HUANG (graduated 2017, looking for faculty position in China after a postdoc at the United States National Institutes of Health), Yuka Suzuki (graduated 2018, now working at Illumina), Mo LIU (graduated 2021, now doing a 1-year postdoc in the Rozen lab to complete a paper) 2016-2021 Postdoctoral fellow Arnoud BOOT, moving to a clinical company in the Netherlands. 2009-2021 Faculty of the NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore; Ph.D. students: Thomas Thurnherr (co-supervised with Caroline Lee, graduated 2015), Alvin Ng (graduated 2018, now a postdoc at MRC Cancer Unit, Cancer Research UK, Cambridge Institute) 2009-2018 Postdoctoral fellow Yew Chung TANG (now at MiRXES Pte Ltd, Singapore, a biotech company) 2010-2017 Postdoctoral fellow John McPherson (now at Ab Initio Software) 2014-present Postdoctoral fellow Willie Yu 2015-2018 Postdoctoral fellow CHENG Shanshan; current position: Associate Professor, School of Public Health at Tongji Medical School of Hwazhong University of Science and Technology in Wuhan, China 2008-2014 Faculty of the Singapore-MIT Alliance, Programme in Computation and Systems Biology; Ph.D. students: Alice Yingting Wu (graduated 2013), Yujing Liu (graduated, 2014; co-supervised with Patrick Tan, now working at AstraZeneca in Shanghai) 2009-2013 Postdoctoral fellow Zhengdeng Lei; current position: Bioinformatics Specialist at the University of Chicago 2001-2001 Co-supervisor of PhD student Sjoerd Repping; current position: Chair, Healthcare Evaluation and Appropriate Use, Zorginstituut Nederland, (National Health Care Institute Netherlands) 2009-present Faculty of the 1st year medical course “Molecules to Tissues” at Duke-NUS Medical School 2010-2013 Faculty of the 1st year Ph.D. student core course “Molecules to Medicines” at Duke-NUS Medical School 1999-2001 Cold Spring Harbor Laboratory, New York, organized and directed course Bioinformatics: Writing Software for Genome Research, a course to train researchers in the creation and integration of software for genomics, , and molecular biology; this two-week, intensive (all day and evening) course covered use of the Unix/Linux operating system, Perl programming, database design, creation of dynamic Web pages, and analysis of DNA sequence and gene expression microarray data; it was aimed at the needs of biologists with little or no prior hands-on experience in these areas

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1992 International Conference on Very Large Data Bases, Database Tuning Tutorial (with D. Shasha) 1989 New York University, Courant Institute, Department of Computer Science taught graduate course Special Topics: Parallel Algorithms, Architectures, and Applications (with D. Shasha) 1988 New York University, Courant Institute, Department of Computer Science, taught undergraduate Introduction to Database Systems

Current Grants as Principal Investigator

Amount Amount Grant Title Funding Source Singapore $ Includes Dates US$ Indirect?

Identifying oncogenic long non- 693,250 coding RNAs and short peptides Singapore Ministry of June 2018 to US$ direct in gastric cancer, MOE2017-T2-2- Education Aug 2021 ~510,000 009

The Singapore LYMPHoma Singapore National 100,000 (to May 2019 to TranslatiONal StudY Medical Research Rozen) direct April 2024 OFLCG18May-0028 Council US$ ~74,000

Systems for assessing mutation signatures in-vitro and discovering Singapore National 1,443,159 mutagenic exposures in tumors, direct and Feb 2019 to Medical Research US$~ MOH-000032/MOH-CIRG18may- indirect Jan 2022 Council (MOH) 1,063,709 0004

Current Grants as Co-Investigator or Mentor Amount Amount Singapore Includes Grant Title Funding Source Dates $ Indirect US$ ? Focal Therapy for Prostate Singapore S$ 375,000 Cancer: Does the Radiological- National Medical US$ direct TBA Molecular Landscape predict Research Council 275,463 Oncological Outcome

1 March CaLiBRe: Cancer Liquid Biopsy for S$ 360,000 2019 to Real-time diagnostics and Early A*STAR to Duke- direct 28 Feb Intervention NUS 2023

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Previous Grants

Amount Amount Funding Grant Title Role Singapore $ Includes Dates Source US$ Indirect?

Investigating the functional role Singapore and mechanism of action of National Sep 2018 MBNL1 in cancer, mentor Medical 250,000 direct to May NMRC/OFYIRG/0065/2017 Research 2021 (Deblina Ray) Council

Impact of Noncoding Mutations Duke-NUS Associated with Cisplatin and Khoo Jun 2018 Aflatoxin B1 Mutagenesis on mentor Postdoctoral 150,000 direct to May Tumourigenesis, Duke-NUS- Fellow Award 2021 KPFA/2018/0027 (Arnoud Boot) Fund

Singapore Epigenomic Profiling of Altered National 5,000,000 Apr 2016 Chromatin States in Co-I Medical US$ direct to Mar Gastrointestinal Cancer Research ~3,715,065 2021 NMRC/STaR/0026/2015 Council

Integrating germline risk variants Singapore 1,290,000 into a clinically testable predictor National Aug 2016 US$ for sporadic colorectal Co-I Medical direct to Feb ~912,564direct carcinomas likely to metastasize Research 2020 only NMRC/OFIRG/0004/2016 Council

Understanding the transcriptomic and epigenetic landscape of Apr 2017 Wilms tumor as a model of Collab. Philanthropy to Mar normal renal development and 2020 tumorigenesis

Duke- Comprehensive genomic profiling Duke/Duke- NUS PI 100,000 (to Oct 2017 to determine the clonal origin and NUS (Duke Rozen) direct to July genetic evolution of recurrent Collaboration PI, Brant US$ ~74,000 2020 urothelial carcinoma Pilot Inman)

Singapore Systems for assessing mutation National signatures in-vitro and 1,746,600 July 2015 Medical direct and discovering mutagenic exposures PI US$ to Jan Research indirect in tumors, ~1,245,000 2019 Council (CS- NMRC/CIRG/1422/2015 IRG)

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Molecular atlas of hepatocarcinogenesis - longitudinal study to analyse the 300,000 Oct 2015 mutational and transcriptional SingHealth PI US$ direct to Sept changes during the development Foundation ~210,903 2018 of hepatocellular carcinoma, SingHealth/Duke- NUS/RCG/2015/0002 Integrating miRNA expression into a clinically testable predictor 300,000 Oct 2015 for early stage colorectal cancer SingHealth PI US$ direct to Sept likely to metastasize, Foundation ~210,903 2018 SingHealth/Duke- NUS/RCG/2015/0005

Singapore Discovery and validation of National July 2014 oncogenic splice variants as drug Medical 1,370,845 US$ PI direct only to June targets in gastrointestinal Research ~1,090,000 2018 cancers, NMRC/CIRG/1393/2014 Council (CS- IRG

Singapore Alternative splicing networks in National Mar 2016 1,012,000 US$ gastric cancer, Co-I Medical direct only to Mar ~738,845 NMRC/CBRG/0104/2016 Research 2019 Council

Singapore National Lymphoma Translational National Feb 2014 Research Program: From 8,999,280 US$ direct and Co-I Medical to Jan Genomics to Therapeutics, ~7,200,000 indirect Research 2019 TCR/010-NCC/2013 Council

Singapore The role of physiologic hypoxia in National Feb 2015 the pathogenesis of chronic 1,490,000 US$ Co-I Medical direct only to Feb myeloid leukaemia, ~1,185,000 Research 2018 NMRC/CIRG/1404/2014 Council

Customizable circulating tumor nucleic acid assays to monitor disease burden, detect known Singapore drug resistance mutations and National ~1,530,000 Nov 2014 direct and identify novel drug resistance Co-I Medical US$ to Nov indirect mutations in patients with Research ~1,145,931 2017 metastatic gastrointestinal Council cancers, Clinician Scientist Award NMRC/CSA-INV/0001/2014

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Singapore Identifying genes associated with National Aug 2013 breast cancer susceptibility in an 966,517 Co-I Medical direct only to Aug Asian population, US$ ~770,000 Research 2017 NMRC/CBRG/0034/2013 Council

Singapore Biomedical Multimodal connectome analysis Research for differentiating subtypes within Council, 1,495,080 Apr 2013 direct and early-stage dementia and mild Co-I Duke-NUS US$ to Mar indirect cognitive impairment, TCRP SingHealth ~1,200,000 2016 13/1/96/19/687 Academic Clinical Programme

Singapore Identification of drugs for targeted National 1,389,000 June 2012 treatment of PTEN-deficient PI Medical US$ direct only to June tumors, Research ~1,110,000 2016 NMRC/GMS/CIRG/1324/2012 Council

Singapore Biomedical Developing a clinically testable Research biomarker-based predictor for Council, 1,500,000 Apr 2013 early stage colorectal cancer PI Duke-NUS US$ direct only to Mar likely to metastasize, SingHealth ~1,200,000 2016 BMRC 13/1/96/19/684 Academic Clinical Programme Singapore Biomedical miRNAs and small RNAs as Research potential biomarkers for the Council, 1,151,510 Apr 2013 identification of cirrhosis and PI Duke-NUS US$ direct only to Mar hepatocellular carcinoma, BMRC SingHealth ~921,000 2016 13/1/96/19/685 Academic Clinical Programme

A striatal synaptic dysfunction Singapore hypothesis for repetitive National 1,250,000 Sept 2010 behaviors in autism evaluated by PI Medical US$ direct only to July re-sequencing of candidate Research ~1,000,000 2014 genes, NMRC/GMS/1248/2010 Council

Lineage-specific survival oncogenes in gastric cancer: Singapore Functional characterization, Aug 2011 Biomedical 1,131,500 genomic dissection, and Co-I direct only to July Research US$ ~900,000 integration with classical genetic 2014 Council circuits, project number 1012419665

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Metabolomic signatures and US National Aug 2010 Collabo- 1,016,953 direct and biomarkers for schizophrenia, Institutes of to May rator US$ 760,353 indirect R01 MH084941 Health 2012

Metabolic signatures for Alzheimer’s disease, US National Sept 2007 cerebrospinal fluid metabolomics Collabo- 1,231,840 direct and Institutes of to Aug in patients with pathologically rator US$ 921,022 indirect Health 2010 confirmed diagnosis, R01 NS054008

US National Apr 2006 Genomic studies of sex 4,651,440 directs and Co-PI Institutes of to Mar chromosomes, R01 HG00275 US$ 3,477,821 indirects Health 2009

US National Mar 2003 Genomic studies of sex 3,794,928 direct and Co-PI Institutes of to Mar chromosomes, R01 HG00275 US$ 2,837,650 indirect Health 2006

US National May 2000 Genetic studies of spermatogenic 2,752,320 direct and Co-PI Institutes of to Apr failure in humans, R01 HD32907 US$ 2,058,848 indirect Health 2006

US National Jan 2000 Genomic studies of the Y 3,007,596 direct and Co-PI Institutes of to Feb chromosome, R01 HG00257 US$ 2,249,801 indirect Health 2003

US National Jan 1997 Mapping and sequencing the Y 3,583,450 direct and Co-PI Institutes of to Dec chromosome, R01 HG00257-07 US$ 2,680,749 indirect Health 1999

Freely sharable DBMS for US Sept 1995 Not genome informatics systems, Co-PI Department of Not available to Sept applicable DE-FG02-95ER62101 Energy 1998

Workflow-management software US National May 1996 ~388,597 for genome-laboratory Co-I Institutes of direct only to Apr US$ ~291,000 informatics, R01 HG0367-01 Health 1999

Awards 2018 American Association for Cancer Research (AACR) Team Science Award to the "Genomic Approaches to Preventing and Treating Asian-Prevalent Cancers Team" for work on aristolochic acid mutagenesis in liver and urinary tract cancers and for genomic studies of biliary tract cancers, lymphomas, and gastric cancers 2015 Singapore President's Science Award, team award to Professors Patrick Tan, Bin Tean Teh, and Steven Rozen, for outstanding integrative and translational research in Asian cancer genomics 2006 Faculty of 1000 Medicine, Must Read for Repping et al., 2006, listed below in Publications

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2003 Faculty of 1000 Biology, Recommended Paper for Rozen, et al., 2003, listed below in Publications 2003 A Breakthrough of the Year by the News and Editorial Staffs of Science, for sequencing the human Y chromosome, reported in Rozen et al., 2003 and Skaletsky et al., 2003, listed below in Publications 2003 Faculty of 1000 Biology, Exceptional Paper for Repping, et al., 2003, listed below in Publications. 2003 Cotterman Award from the American Society of Human Genetics for Repping et al., 2002, listed below in Publications

Publications - 169 Google Scholar h-index 73, i10-index 140; IF indicates journal impact factor.

Preprints and in-review 1. SMA Islam, Y Wu, M Díaz-Gay, EN Bergstrom, Y He, M Barnes, M Vella, J Wang, JW Teague, P Clapham, S Moody, S Senkin, YR Li, L Riva, T Zhang, AJ Gruber, R Vangara, CD Steele, B Otlu, A Khandekar, A Abbasi, L Humphreys, N Syulyukina, SW Brady, BS Alexandrov, N Pillay, J Zhang, DJ Adams, I Martincorena, DC Wedge, MTeresa Landi, P Brennan, MR Stratton, SG Rozen, LB Alexandrov. "Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor" Preprint on bioRxiv doi: 10.1101/2020.12.13.422570 (2020)

2. A Boot, SG Rozen. “Distinctive indel mutational signature in tumors carrying TOP2A p.K743N” Preprint on bioRxiv doi: 10.1101/2020.05.22.111666 (2020)

3. JQ Lim, T Tang, Q-q Cai, D Tan, M-L Nairismagi, Y Laurensia, BKH Chia, R-J Peng, J Iqbal, DC Huang, T Song, WL Pang, DMZ Cheah, CCY Ng, V Rajasegaran, H Hong, E Tse, B Mow, Q-C Cai, L-M Poon, J Tan, NF Grigoropoulos, YT Goh, C Phipps, O Rotzschke, CL Cheng, YS Lee, Y Loh, M Tao, M Farid, R Au-Yeung, TS-Y Chan, S-B Ng, Y-L Kwong, W Hwang, W-J Chng, T Tousseyn, P Tan, BT Teh, CC Khor, S Rozen, J-X Bei, T Lin, ST Lim, CK Ong. "Recurrent PD-L1 structural rearrangements in natural killer/T cell lymphoma patients with complete response to PD-1 blockade therapy" Preprint on bioRxiv doi: 10.1101/372383 (2018)

Published 1. Ni Padmanabhan, Huang KK, A Boot, K Lim, S Srivastava, S Chen, Z Wu, H-O Lee, VT. Mukundan, C Chan, YK Chan, Ong X, JJ. Pitt, ZFA Isa, M Xing, MH Lee, ALK Tan, S Ho WT, MA. Luftig, D Kappei, WD. Kruger, J Bian, YS Ho, M Teh, SG Rozen & P Tan. "Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation" Genome Biol 22, 167 (2021) doi: 10.1186/s13059-021- 02375-2 IF 10.806

2. M Liu, A Boot, AWT Ng, R Gordân, SG Rozen. "Mutational processes in cancer preferentially affect binding of particular transcription factors" Sci Rep 11, 3339 (2021) doi: 10.1038/s41598-021-82910-0 IF 3.998

3. Y Bylstra, WK Lim, S Kam, KW Tham, R.R Wu, JX Teo, S Davila, JL Kuan, SH Chan, N Bertin, Cheng XY, S Rozen, BT Teh, KK Yeo, SA Cook, SS Jamuar, GS. Ginsburg, LA. Orlando & P Tan. "Family history assessment significantly enhances delivery of precision medicine in the genomics era" Genome Med 13, 3 (2021) doi: 10.1186/s13073-020-00819-1 IF 5.802

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4. BR Campbell, Z Chen, DL Faden, N Agrawal, RJ Li, GJ Hanna, NG Iyer, A Boot, SG Rozen, AL Vettore, B Panda, NM Krishnan, CR Pickering, JN Myers, X Guo, KAL Kuhs "The mutational landscape of early- and typical-onset oral tongue squamous cell carcinoma" Cancer 2021 Feb 4;127(4):544-553. Epub 2020 Nov 4 doi: 10.1002/cncr.33309 IF 5.742

5. Lai FT, C Blöcker, HH Li, M Lo, M Wong, CL Tang, EK.W. Tan, SG. Rozen & PY Cheah. "Enhancer-derived long non-coding RNAs CCAT1 and CCAT2 at rs6983267 has limited predictability for early stage colorectal carcinoma metastasis" Sci Rep 11, 404 (2021) doi: 10.1038/s41598-020-79906-7 IF 3.998

6. JY Chan, JQ Lim, J Yeong, V Ravi, P Guan, A Boot, TKY Tay, S Selvarajan, NDM Nasir, JH Loh, CK Ong, D Huang, J Tan, Z Li, CC-Y Ng, TT Tan, M Masuzawa, KW-K Sung, M Farid, RHH Quek, NC Tan, MCC Teo, SG Rozen, P Tan, A Futreal, BT The, KC Soo "Multiomic analysis and immunoprobing reveal distinct subtypes of human angiosarcoma" J Clin Invest. 130(11):5833-5846 (2020) doi: 10.1172/JCI139080 IF 11.864

7. SG Rozen, "Mutational selection in normal urothelium" Science, 370(6512):34-35 doi:10.1126/science.abe0955 (2020) IF 41.845

8. A Boot, AWT Ng, FT Chong, S-C Ho, W Yu, DSW Tan, NG Iyer, SG Rozen. "Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types" Genome Res, 30 803- 813 doi: 10.1101/gr.255620.119 (2020) IF 11.093

9. MH Bailey, WU Meyerson, LJ Dursi, L-B Wang, G Dong, W-W Liang, A Weerasinghe, S Li, S Kelso, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, G Saksena, K Ellrott, MC Wendl, DA Wheeler, G Getz, JT Simpson, MB Gerstein, L Ding, PCAWG Consortium (Rozen is member of the Consortium). “Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples” Nat Commun 11, 4748. doi.org/10.1038/s41467-020-18151-y (2020) IF 12.121

10. CH Li, SD Prokopec, RX Sun, F Yousif, N Schmitz, PCAWG Tumour Subypes and Clinical Translation, PC Boutros, PCAWG Consortium (Rozen is member of the Consortium). "Sex differences in oncogenic mutational processes" Nat Commun 11, 4330. doi.org/10.1038/s41467-020-17359-2 (2020) IF12.121

11. D Ray, CY Yu, M Idris, S Cheng, A Boot, BHI Tan, SG Rozen, P Tan, DM Epstein. "A tumor-associated splice-isoform of MAP2K7 drives dedifferentiation in MBNL1-low cancers via JNK activation" PNAS 117 (28) 16391-16400 doi: 10.1073/pnas.2002499117 (2020) IF 9.412

12. J Chan, A Lim, A Boot, E Lee, C Ng, JY Lee, V Rajasegaran, W Liu, S Goh, JH Hong, X Xu, L D Bharwani, CY Chan, A Chung, PC Cheow, CK Ho, KH Liau, W Woon, JK Low, A Chopra, G lopes, SG Rozen*, BT Teh*, A Chang* "Whole exome sequencing identifies clinically relevant mutational signatures in resected hepatocellular carcinoma" Liver Cancer Int 1 25–35 doi: 10.1002/lci2.14 (2020) (* = corresponding author)

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13. WF Ooi, AM Nargund, KJ Lim, S Zhang, M Xing, A Mandoli, JQ Lim, SWT Ho, Y Guo, X Yao, SJ Lin, T Nandi, C Xu, X Ong, M Lee, ALK Tan, YN Lam, JX Teo, A Kaneda, KP White, WK Lim, SG Rozen, BT Teh, S Li, AJ Skanderup, P Tan. "Integrated paired-end enhancer profiling and whole-genome sequencing reveals recurrent CCNE1 and IGF2 enhancer hijacking in primary gastric adenocarcinoma" Gut 2020 691039-1052 doi: 10.1136/gutjnl-2018-317612 (2020) IF 17.943

14. M Xing, WF Ooi, J Tan, A Qamra, PH Lee, Z Li, C Xu, N Padmanabhan, JQ Lim, YA Guo, X Yao, M Amit, LM Ng, T Sheng, J Wang, KK Huang, CG Anene-Nzelu, SWT Ho, M Ray, L Ma, G Fazzi, KJ Lim, GC Wijaya, S Zhang, T Nandi, T Yan, MM Chang, K Das, ZFA Isa, J Wu, PPS Yean, YN Lam, JS Lin, ST Tay, M Lee, ATL Keng, X Ong, K White, SG Rozen, M Beer, RSY Foo, H Grabsch, AJ Skanderup, S Li, BT Teh, P Tan. "Genomic and epigenomic EBF1 alterations modulate TERT expression in gastric cancer" J Clin Inves pii: 126726 doi: 10.1172/JCI126726 (2020) IF 12.282

15. S Kongpetch, A Jusakul, JQ Lim, CCY Ng, JY Chan, V Rajasegaran, TH Lim, KH Lim, KH Choo x, S Dima, I Popescu, DG Duda, V Kukongviriyapan, N Khuntikeo, C Pairojkul, SG Rozen, P Tan, BT Teh. "Lack of targetable FGFR2 fusions in endemic fluke-associated cholangiocarcinoma" JCO Glob Oncol 6:628-638 doi: 10.1200/GO.20.00030. (2020) IF (no impact factor yet)

16. A Boot, N Jiang, SG Rozen. "Toward clinical understanding of aristolochic acid upper- tract urothelial carcinoma" Theranostics 10(12) 5578-5580 doi: 10.7150/thno.46489 (2020) IF 8.063

17. LB Alexandrov, J Kim, NJ Haradhvala, MN Huang, AWT Ng, Y Wu, AB Boot, KR Covington, DA Gordenin, EN Bergstrom, SMA Islam, N Lopez-Bigas, LJ Klimczak, JR McPherson, S Morganella, R Sabarinathan, DA Wheeler, V Mustonen, PCAWG Mutational Signatures Working Group, G Getz, SG Rozen*, MR Stratton*, PCAWG Consortium. "The repertoire of mutational signatures in human cancer" Nature 578 94-101 doi: 10.1038/s41586-020-1943-3 (2020) (* = corresponding author) IF 43.07

18. S Cheng, D Ray, RTH Lee, KB Naripogu, PA Bt Mohamed Yusoff, PBL Goh, Y Liu, Y Suzuki, K Das, HS Chan, WK Wong, WH Chan, PK-H Chow, HS Ong, P Raj, KC Soo, P Tan, DM Epstein, SG Rozen. "A functional network of gastric-cancer-associated splicing events controlled by dysregulated splicing factors" NAR Genomics and Bioinformatics, 2:2 lqaa013 doi: 10.1093/nargab/lqaa013 (2020) (no impact factor yet)

19. XM Wang, Y Lu, YM Song, J Dong, RY Li, GL Wang, X Wang, SD Zhang, ZH Dong, M Lu, SY Wang, LY Ge, GD Luo, RZ Ma, SG Rozen, F Bai, D Wu, LL Ma. "Integrative genomic study of Chinese clear cell renal cell carcinoma reveals features associated with thrombus" Nat Commun 11 739 doi: 10.1038/s41467-020-14601-9 (2020) IF 11.880

20. JR Sinnakannu, KL Lee, S Cheng, JL, M Yu, SP Tan, CCH Ong, HL, H Than, O Anczuków-Camarda, AR Krainer, X Roca, SG Rozen, J Iqbal, H Yang, C Chuah, ST Ong. "SRSF1 mediates cytokine-induced impaired imatinib sensitivity in chronic myeloid leukemia" Leukemia 34, 1787–1798 doi: 10.1038/s41375-020-0732-1 (2020) IF 12.104

21. J Zavadil, SG Rozen. "Experimental Delineation of Mutational Signatures Is an Essential Tool in Cancer Epidemiology and Prevention" Chemical Research in Toxicology 2019, 32 (11), 2153-2155 doi.org/10.1021/acs.chemrestox.9b00339 (2019). IF 3.278

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22. EN Bergstrom, MN Huang, U Mahto, M Barnes, MR Stratton, SG Rozen, LB Alexandrov. "SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events" BMC Genomics 20,685 doi: 10.1186/s12864-019-6041-2 (2019) IF 3.730

23. JX Teo, S Davila, C Yang, AA Hii, CJ Pua, J Yap, SY Tan, A Sahlén, CW Chin, BT Teh, SG Rozen, SA Cook, KK Yeo, P Tan, WK Lim. "Digital phenotyping by consumer wearables identifies sleep-associated markers of cardiovascular disease risk and biological aging" Commun Biol 2:361 doi: 10.1038/s42003-019-0605 (2019) (no impact factor yet)

24. Y Bylstra, S Davila, WK Lim, R Wu, JX Teo, S Kam, T Lysaght, SG Rozen, BT Teh, KK Yeo, SA Cook, P Tan, SS Jamuar. "Implementation of genomics in medical practice to deliver precision medicine for an Asian population" NPJ Genom Med, 4(1):12 doi.org/10.1038/s41525-019-0085-8 (2019) IF 3.46

25. R Sundar, A Ng, H Zouridis, N Padmanabhan, T Sheng, S Zhang, MH Lee, WF Ooi, A Qamra, I Inam, LC Hewitt, JB-Y So, V Koh, MG Nankivell, RE Langley, WH Allum, D Cunningham, SG Rozen, WP Yong, HI Grabsch, P Tan. "DNA epigenetic signature predictive of benefit from neoadjuvant chemotherapy in oesophageal adenocarcinoma: results from the MRC OE02 trial" European Journal of Cancer 123:48-57 doi.org/10.1016/j.ejca.2019.09.016 (2019). IF 6.680

26. R Xue, L Chen, C Zhang, M Fujita, R Li, S-M Yan, CK Ong, X Liao, Q Gao, S Sasagawa, Y Li, J Wang, H Guo, Q-T Huang, Q Zhong, J Tan, L Qi, W Gong, Z Hong, M Li, J Zhao, T Peng, Y Lu, KHTLim, A Boot, A Ono, K Chayama, Z Zhang, SG Rozen, BT Teh, XW Wang, H Nakagawa, M-S Zeng, F Bai, N Zhang. "Genomic and transcriptomic profiling of combined hepatocellular and intrahepatic cholangiocarcinoma reveals distinct molecular subtypes" Cancer Cell, 35(6):932- 947.e8 doi.org/10.1016/j.ccell.2019.04.007 (2019) IF 23.21

27. M Zhivagui, AWT Ng, M Ardin, MI Churchwell, M Pandey, C Renard, S Villar, V Cahais, A Robitaille, L Bouaoun, A Heguy, KZ Guyton, MR Stampfer, J McKay, M Hollstein, M Olivier, SG Rozen, FA Beland, M Korenjak, J Zavadil. "Experimental and pan-cancer genome analyses reveal widespread contribution of acrylamide exposure to carcinogenesis in humans" Genome Res, 29:521-531 doi:10.1101/gr.242453.118 (2019) IF 11.093

28. Y Bylstra, JL Kuan, WK Lim, JD Bhalshankar, JX Teo, S Davila, BT Teh, SG Rozen, E-C Tan, WKM Liew, KK Yeo, P Tan, SMS, C-Y Cheng, S Cook, R Foo, SS Jamua. "Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders" Genet Med, 21(1):207-212 doi.org/10.1038/s41436-018-0008-6 (2019) IF 8.22

29. ST Chandrabose, S Sriram, S Subramanian, S Cheng, WK Ong, SG Rozen, NHA Kasim, S Sugii. "Amenable epigenetic traits of dental pulp stem cells underlie high capability of xeno-free episomal reprogramming" Stem Cell Res & Ther, 9(1):68. doi.org/10.1186/s13287-018-0796-2(2018) IF 4.42

30. KK Huang, K Ramnarayanan, F Zhu, S Srivastava, C Xu, ALK Tan, M Lee, S Tay, K Das, M Xing, A Fatehullah, SMF Alkaff, TKH Lim, J Lee, KY Ho, SG Rozen, BT Teh, N Barker, CK Chia, C Khor, CJ Ooi, KM Fock, J So, WC Lim, KL Ling, TL Ang, A Wong, J Rao, A Rajnakova, LG Lim, WM Yap, M Teh, KG Yeoh, P Tan. "Genomic and epigenomic profiling of high-risk intestinal metaplasia reveals molecular determinants of progression to gastric cancer" Cancer Cell, 33(1):137-150.e5 doi.org/10.1016/j.ccell.2017.11.018 (2018) IF 23.21

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31. A Boot, M Huang, AWT Ng, S-C Ho, JQ Lim, Y Kawakami, K Chayama, BT Teh, H Nakagawa, SG Rozen. "In-depth characterization of the cisplatin mutational signature in a human cell line and in esophageal and liver tumors" Genome Res, 28(5):654-665 doi:10.1101/gr.230219.117 (2018) IF 9.944

32. YC Tang, S-C Ho, E Tan, AWT Ng, JR McPherson, GYL Goh, BT Teh, F Bard, SG Rozen. "Functional genomics identifies specific vulnerabilities in PTEN-deficient breast cancer" Breast Cancer Res, 20(1), 22 doi:10.1186/s13058-018-0949-3 (2018) IF 6.345

33. WK Lim, S Davila, JX Teo, C Yang, CJ Pua, C Blöcker, JQ Lim, J Ching, JJL Yap, SY Tan, A Sahlén, CW-L Chin, BT Teh, SG Rozen, SA Cook, KK Yeo, P Tan. "Beyond fitness tracking: The use of consumer-grade wearable data from normal volunteers in cardiovascular and lipidomics research" PLoS Biol 16 (2):e2004285 doi.org/10.1371/journal.pbio.2004285 (2018) IF 9.79

34. TD Yan, WF Ooi, A Qamra, A Cheung, DL Ma, GM Sundaram, C Xu, M Xing, LF Poon, J Wang, YP Loh, JHJ Ho, JJQ Ng, MK Ramlee, L Aswad, SG Rozen, S Ghosh, FA Bard, P Sampath, V Tergaonkar, JOJ Davies, JR Hughes, E Goh, X Bi, MJ Fullwood, P Tan, S Li. "HoxC5 and miR-615-3p target newly evolved genomic regions to repress hTERT and inhibit tumorigenesis" Nat Commun 9:100 doi.org/10.1038/s41467-017-02601-1 (2018) IF 12.12

35. AWT Ng, SL Poon, MN Huang, JQ Lim, A Boot, W Yu, Y Suzuki, S Thangaraju, CCY. Ng, P Tan, S-T Pang, H-Y Huang, M-Ch Yu, P-H Lee, S-Y Hsieh*, AY Chang*, BT Teh*, SG Rozen.* "Aristolochic acids and their derivatives are widely implicated in liver cancers in Taiwan and throughout Asia" Sci Transl Med 9(412):eaan6446 doi:10.1126/scitranslmed.aan6446 (2017) (Received journal cover image) IF 16.79

36. MN Huang, W Yu, WW Teoh, M Ardin, A Jusakul, A Ng, A Boot, B Abedi-Ardekani, S Villar, SS Myint, R Othman, SL Poon, A Heguy, M Olivier, M Hollstein, P Tan, BT Teh, K Sabapathy, J Zavadil, SG Rozen. "Genome-scale mutational signatures of aflatoxin in cells, mice and human tumors" Genome Res 27(9)1475-1486 doi:10.1101/gr.220038.116 (2017) IF 11.92

37. BT Teh, K Lim, CH Yong, CCY Ng, SR Rao, V Rajasegaran, WK Lim, CK Ong, K Chan, VKY Cheng, PS Soh, S Swarup, SG Rozen, N Nagarajan, P Tan. "The draft genome of tropical fruit durian (Durio zibethinus)". Nat Genet 49: 1633-1641 doi.org/10.1038/ng.3972(2017) IF 27.95

38. A Jusakul, I Cutcutache, CH Yong, JQ Lim, MN Huang, N Padmanabhan, V Nellore, S Kongpetch, AWT Ng, LM Ng, SP Choo, SS Myint, R Thanan, S Nagarajan, WK Lim, CCY Ng, A Boot, M Liu, CK Ong, V Rajasegaran, S Lie, AS-T Lim, TH Lim, J Tan, MJ Liang, J Mcpherson, N Khuntikeo, V Bhudhisawasdi, P Yongvanit, S Wongkham, Y Totoki, H Nakamura, Y Arai, S Yamasaki, P Chow, AYF Chung, LLPJ Ooi, T Lim, S Dima, D Duda, I Popescu, P Broet, S-Y Hsieh, M-C Yu, A Scarpa, J Lai, D Luo, AL Carvalho, A Vettore, H Rhee, YN Park, L Alexandrov, R Gordan*, SG Rozen*, T Shibata*, C Pairojkul*, BT Teh*, P Tan*. "Whole-genome and epigenomic landscapes of etiologically distinct subtypes of cholangiocarcinoma" Cancer Discov 7(10):1116- 1135 doi:10.1158/2159-8290.CD-17-0368 (2017) (* = corresponding author) IF 19.78

39. YS Low, C Bloecker, JR McPherson, SA Tang, YY Cheng, JYS Wong, C Chua, TKH Lim, CL Tang, MH Chew, PT Tan, IB Tan*, SG Rozen*, PY Cheah*. "A formalin-fixed paraffin-embedded (FFPE)-based prognostic signature to predict metastasis in clinically low risk stage I/II microsatellite stable colorectal cancer" Cancer Lett 403:13- 20 doi:10.1016/j.canlet.2017.05.031 (2017) (* = corresponding author) IF 5.62

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40. A Qamra, M Xing, N Padmanabhan, J Jun T Kwok, S Zhang, C Xu, YS Leong, APL Lim, Q Tang, WF Ooi, JS Lin, T Nandi, X Yao, X Ong, M Lee, ST Tay, ATL Keng, EG Santoso, CCY Ng, A Ng, A Jusakul, D , H Ashktorab, SY Rha, KG Yeoh, WP Yong, PKH Chow, WH Chan, HS Ong, KC Soo, K-M Kim, WK Wong, SG Rozen, BT Teh, D Kappei, J Lee, J Connolly, P Tan. "Epigenomic promoter alterations amplify gene isoform and immunogenic diversity in gastric adenocarcinoma" Cancer Discov 7(6):630-651 doi: 10.1158/2159-8290.CD-16-1022 (2017) IF 19.78

41. X Li, W Yu, X Qian, Y Xia, Y Zheng, J-H Lee, W Li, J Lyu, G Rao, X Zhang, C-N Qian, SG Rozen, T Jiang, Z Lu. "Nucleus-translocated ACSS2 promotes gene transcription for lysosomal biogenesis and autophagy" Mol Cell 66:684-697 (2017) IF 14.01

42. X Yao, J Tan, K J Lim, J Koh, WF Ooi, Z Li, D Huang, M Xing, YS Chan, JZ Qu, ST Tay, G Wijaya, YN Lam, JH Hong, AP Lee-Lim, P Guan, MSW Ng, CZ He, JS Lin, T Nandi, A Qamra, C Xu, SS Myint, JOJ Davies, JY Goh, G Loh, BC Tan, SG Rozen, Q Yu, IBH Tan, CWS Cheng, S Li, KTE Chang, PH Tan, DL Silver, A Lezhava, G Steger, JR Hughes, BT Teh, P Tan. "VHL deficiency drives enhancer activation of oncogenes in clear cell renal cell carcinoma" Cancer Discov doi: 10.1158/2159-8290.CD-17-0375 (2017) IF 19.78

43. LD Ler, S Ghosh, X Chai, AA Thike, HL Heng, EY Siew, S Dey, LK Koh, JQ Lim, WK Lim, SS Myint, JL Loh, P Ong, XX Sam, D Huang, T Lim, PH Tan, S Nagarajan, CWS Cheng, H Ho, LG Ng, J Yuen, P-H Lin, C-K Chuang, Y-H Chang, W-H Weng, SG Rozen, P Tan, CL Creasy, S-T Pang, MT McCabe, SL Poon, BT Teh. "Loss of tumor suppressor KDM6A amplifies PRC2-regulated transcriptional repression in bladder cancer and can be targeted through inhibition of EZH2" Sci Transl Med 9: eaai8312 doi: 10.1126/scitranslmed.aai8312 (2017) IF 16.79

44. A Alok, Z Lei, NS Jagannathan, S Kaur, SG Rozen, L Tucker-Kellogg, DM Virshup. "Wnts synergize to activate β-catenin signaling" J Cell Sci 130(9):1532-1544. doi: 10.1242/jcs.198093 (2017) IF 4.70

45. SW Tompson, C Johnson, D Abbott, B Bakall, V Soler, TL Yanovitch, KN Whisenhunt, T Klemm, S Rozen, EM Stone, M Johnson, TL Young. "Reduced penetrance in a large Caucasian pedigree with Stickler syndrome" Ophthalmic Genet 38(1): 43-50 doi.org/10.1080/13816810.2016.1275018(2017) IF 1.88

46. SB Ng, C Chua, M Ng, A Gan, PSY Poon, M Teo, C Fu, WQ Leow, KH Lim, A Chung, S-L Koo, SP Choo, D Ho, S Rozen, P Tan, M Wong, WF Burkholder, IB Tan. "Individualised multiplexed circulating tumour DNA assays for monitoring of tumour presence in patients after colorectal cancer surgery" Sci Rep 7:40737 (2017) IF 5.22

47. T Fukawa, N Shannon, D Huang, J Tan, Xi Yao, SG Rozen, P Tan, BT Teh. "Molecular genetics of renal cell carcinoma" In M Oye eds. Renal Cell Carcinoma Springer, Tokyo ( 2017) pages 83-103

48. Y Suzuki, SB Ng, C Chua, WQ Leow, J Chng, SY Liu, K Ramnarayanan, A Gan, DL Ho, R Ten, Y Su, A Lezhava, J H Lai, D Koh, KH Lim, P Tan, SG Rozen*, IB Tan*. "Multiregion ultra-deep sequencing reveals early intermixing and variable levels of intratumoral heterogeneity in colorectal cancer" Mol Oncol doi:10.1002/1878- 0261.12012 (2016) (* = corresponding author) IF 5.37

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49. WF Ooi, M Xing, C Xu, X Yao, MK Ramlee, MC Lim, F Cao, K Lim, D Babu, L-F Poon, JL Suling, A Qamra, A Irwanto, JQ Zhengzhong, T Nandi, AP Lee-Lim, YS Chan, ST Tay, MH Lee, JOJ Davies, WK Wong, KC Soo, WH Chan, HS Ong, P Chow, CY Wong, SY Rha, J Liu, AM Hillmer, JR Hughes, S Rozen, BT Teh, MJ Fullwood, S Li, P Tan. "Epigenomic profiling of primary gastric adenocarcinoma reveals super-enhancer heterogeneity" Nat Commun 7:12983 (2016) IF 11.32

50. B Madan, Z Ke, ZD Lei, FA Oliver, M Oshima, MA Lee, S Rozen, DM Virshup. "NOTUM is a potential pharmacodynamic biomarker of Wnt pathway inhibition" Oncotarget 7:12386 (2016) IF 6.35

51. T Thurnherr, W-C Mah, Z Lei, Y Jin, SG Rozen, CG Lee. "Differentially expressed miRNAs in hepatocellular carcinoma target genes in the genetic information processing and metabolism pathways" Sci Rep 6:20065 (2016) IF 5.57

52. THM Chan, A Qamra, KT Tan, J Guo, H Yang, L Qi, JS Lin, VHE Ng, Y Song, H Hong, ST Tay, Y Liu, J Lee, SY Rha, Z Feng, JBY So, BT Teh, YK Guan, S Rozen, DG Tenen, P Tan, L Chen. "ADAR-mediated RNA editing predicts progression and prognosis of gastric cancer" Gastroenterol 151:637-650 (2016) IF 16.71

53. C Wang, JR McPherson, L-H Zhang, S Rozen, K Sabapathy. "Transcription- associated mutation of lasR in Pseudomonas aeruginosa" DNA repair 46:6-19 (2016) IF 3.92

54. CC Liu, DL Ma, T‐D Yan, X Fan, Z Poon, L‐F Poon, S‐A Goh, SG Rozen, WYK Hwang, V Tergaonkar, P Tan, S Ghosh, DM Virshup, ELK Goh, S Li. "Distinct responses of stem cells to telomere uncapping–a potential strategy to improve the safety of cell therapy" Stem Cells 34:2471-2484 (2016) IF 5.90

55. T Souma, SW Tompson, BR Thomson, OM Siggs, K Kizhatil, S Yamaguchi, L Feng, V Limviphuvadh, KN Whisenhunt, S Maurer-Stroh, TL Yanovitch, L Kalaydjieva, DN Azmanov, S Finzi, L Mauri, S Javadiyan, E Souzeau, T Zhou, AW Hewitt, B Kloss, KP Burdon, DA Mackey, KF Allen, JB Ruddle, S-H Lim, S Rozen, K-N Tran-Viet, X Liu, S John, JL Wiggs, F Pasutto, JE Craig, J Jin, SE Quaggin, TL Young. "Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity" J Clin Invest 126:7 (2016) IF 13.26

56. C Chan, T Thurnherr, J Wang, X Gallart-Palau, SK Sze, S Rozen, CG Lee. "Global re- wiring of p53 transcription regulation by the hepatitis B virus X protein" Mol Oncol 10:1183-1195 (2016) IF 5.33

57. W Zhang, PJ Kim, Z Chen, H Lokman, L Qiu, K Zhang, SG Rozen, EK Tan, HS Je, L Zeng. "MiRNA-128 regulates the proliferation and neurogenesis of neural precursors by targeting PCM1 in the developing cortex" eLife 5: e11324 (2016) IF 9.32

58. ML Nairismägi, J Tan, JQ Lim, S Nagarajan, CCY Ng, V Rajasegaran, D Huang, WK Lim, Y Laurensia, GC Wijaya, ZM Li, I Cutcutache, WL Pang, S Thangaraju, J Ha, LP Khoo, ST Chin, S Dey, G Poore, LHC Tan, HKM Koh, K Sabai, HL Rao, KL Chuah, Y.H. Ho, S.B. Ng, S.S. Chuang, F. Zhang, Y.H. Liu, T. Pongpruttipan, Y.H. Ko, PL Cheah, N Karim, WJ Chng, T Tang, M Tao, K Tay, M Farid, R Quek, SG Rozen, P Tan, BT Teh, ST Lim, SY Tan, CK Ong. "JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma" Leukemia 30:1311-1319 (2016) IF 10.43

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59. K Das, XB Chan, D Epstein, BT Teh, K-M Kim, ST Kim, SH Park, WK Kang, S Rozen, J Lee, P Tan. "NanoString expression profiling identifies candidate biomarkers of RAD001 response in metastatic gastric cancer" ESMO Open 1:e000009 (2016) new journal, no IF

60. KK Huang, KW Jang, S Kim, HS Kim, S-M Kim, HJ Kwon, HR Kim, HJ Yun, MJ Ahn, KU Park, K Ramnarayanan, JR McPherson, S Zhang, J-K Rhee, AL Vettore, K Das, T Ishimoto, JH Kim, YW Koh, SH Kim, EC Choi, BT Teh, SG Rozen, T-M Kim, P Tan, BC Cho. "Exome sequencing reveals recurrent REV3L mutations in cisplatin-resistant squamous cell carcinoma of head and neck" Sci Rep 6:19552 (2016) IF 5.57

61. ESY Wong, S Shekar, M Met-Domestici, C Chan, M Sze, YS Yap, SG Rozen, M-H Tan, P Ang, J Ngeow, ASG Lee. "Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore" npj Genomic Medicine 1:15003 (2016) new journal, no IF

62. J Tan, CK Ong, WK Lim, CCY Ng, AA Thike, LM Ng, V Rajasegaran, SS Myint, S Nagarajan, S Thangaraju, S Dey, NDM Nasir, GC Wijaya, JQ Lim, D Huang, Z Li, BH Wong, JYS Chan, JR McPherson, I Cutcutache, G Poore, ST Tay, WJ T Tan, C Putti, BS Ahmad, P Lau, CW Chan, APT Tang, WS Yong, P Madhukumar, GH Ho, VKM Tan, CY Wong, M Hartman, KW Ong, BKT Tan, SG Rozen*, P Tan*, PH Tan*, B. Teh*. "Genomic landscapes of breast fibroepithelial tumors" Nat Genet 47:1341–1345 (2015) (* = corresponding author) IF 29.35

63. MN Huang, JR McPherson, I Cutcutache, BT Teh, P Tan, SG Rozen. "MSIseq: Software for assessing microsatellite instability from catalogs of somatic mutations" Sci Rep 5:13321 (2015) IF 5.58

64. I Cutcutache, AY Wu, Y Suzuki, JR McPherson, Z Lei, N Deng, S Zhang, WK Wong, KC Soo, WH Chan, LL Ooi, R Welsch, P Tan, SG Rozen. "Abundant copy-number loss of CYCLOPS and STOP genes in gastric adenocarcinoma" Gastric Cancer 1-13 (2015) IF 4.40

65. I Cutcutache, Y Suzuki, IB Tan, S Ramgopal, S Zhang, K Ramnarayana, A Gan, HH Lee, ST Tay, A Ooi, CK Ong, JT Bolthouse, BR Lane, JG Anema, RJ Kahnoski, P Tan*, BT Teh*, SG Rozen*. "Exome-wide sequencing shows low mutation rates and identifies novel mutated genes in seminomas" Eur Urol 68(1):77-83 (2015) (* = corresponding author). Designated "Platinum Priority" and highlighted in a journal editorial. IF 14.9

66. SL Poon, MN Huang, Y Choo, JR McPherson, W Yu, HL Heng, A Gan, SS Myint, EY Siew, LD Ler, LG Ng, W-H Weng, C-K Chuang, JSP Yuen, S-T Pang*, P Tan*, BT Teh*, SG Rozen*. "Mutation signatures implicate aristolochic acid in bladder cancer development" Genome Med 7:38 (2015) (* = corresponding author) IF 5.81

67. AL Vettore, K Ramnarayanan, G Poore, K Lim, CK Ong, KK Huang, HS Leong, FT Chong, TK-H Lim, WK Lim, I Cutcutache, JR Mcpherson, Y Suzuki1, S Zhang, T Skanthakumar, W Wang, DSW Tan, BC Cho, BT Teh*, S Rozen*, P Tan*, NG Iyer*. "Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance " Genome Med 7:98 (2015) (* = corresponding author) IF 5.81

68. MT Voso, E Fabiani, Z Zang, L Fianchi, G Falconi, A Padella, M Martini, SL Zhang, R Santangelo, LM Larocca, M Criscuolo, A La Brocca, I Cutcutache, S Rozen, G Simonetti, M Manfrini, G Martinelli, S Hohaus, G Leone, P Tan, DG Tenen. "Fanconi

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anemia gene variants in therapy-related myeloid neoplasms" Blood Cancer J 5:7 (2015) IF 3.46

69. F Yang, S Silber, NA Leu, RD Oates, JD Marszalek, H Skaletsky, LG Brown, S Rozen, DC Page, PJ Wang. "TEX11 is mutated in infertile men with azoospermia and regulates genome‐wide recombination rates in mouse" EMBO Mol Med 7:1198-1210 (2015) IF 8.66

70. I Tan, S Malik, K Ramnarayanan, J McPherson, D Ho, Y Suzuki, S Ng, S Yan, K Lim, D Koh, C Hoe, C Chan, R Ten, B Goh, A Chung, J Tan, C Chan, S Tay, L Alexander, N Nagarajan, A Hillmer, C Tang, C Chua, B Teh, S Rozen, P Tan. "High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer" Genome Biol 16:32 (2015) IF 10.47

71. S Kongpetch, A Jusakul, CK Ong, WK Lim, SG Rozen, P Tan, BT Teh. "Pathogenesis of cholangiocarcinoma: from genetics to signaling pathways" Best Pract Res Clin Gastroenterol 29:233-244 (2015) IF 3.28

72. MK Keck, Z Zuo, A Khattri, TP Stricker, C Brown, M Imanguli, D Rieke, K Endhardt, P Fang, J Bragelmann, R DeBoer, M El Dinali, S Aktolga, Z Lei, P Tan, SG Rozen, R Salgia, RR Weichselbaum, MW Lingen, MD Story, KK Ang, EE Cohen, KP White, EE Vokes, TY Seiwert. "Integrative analysis of head and neck cancer identifies two biologically distinct HPV and three non-HPV subtypes" Clin Cancer Res 21:870-881 (2015) IF 8.19

73. Y Itahana, R Han, S Barbier, Z Lei, S Rozen, K Itahana. "The uric acid transporter SLC2A9 is a direct target gene of the tumor suppressor p53 contributing to antioxidant defense" Oncogene 34:1799-1810 (2015) IF 8.6

74. KK Huang, JR McPherson, ST Tay, K Das, IB Tan, CCY Ng, N-Y Chia, SL Zhang, SS Myint, L Hu, V Rajasegaran, D Huang, JL Loh, A Gan, ANH Sairi, XX Sam, LT Dominguez, M Lee, KC Soo, LLPJ Ooi, HS Ong, A Chung, PK-H Chow, WK Wong, S Selvarajan, CK Ong, KH Lim, T Nandi, S Rozen, BT Teh, R Quek, P Tan. "SETD2 histone modifier loss in aggressive GI stromal tumours" Gut gutjnl-2015-309482 (2015) IF 14.66

75. JR McPherson, C‐K Ong, CC‐Y. Ng, V Rajasegaran, H‐L Heng, WS‐S Yu, BK‐T Tan, P Madhukumar, MC‐C Teo, J Ngeow, A‐A Thike, SG Rozen, P‐H Tan, AS‐G Lee, B‐T Teh, Y‐S Yap. "Whole‐exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1" Cancer Med 4:1871-1878 (2015) IF 2.50

76. NY Chia, N Deng, K Das, D Huang, L Hu, Y Zhu, KH Lim, MH Lee, J Wu, XX Sam, GS Tan, WK Wan, W Yu, A Gan, AL Tan, ST Tay, KC Soo, WK Wong, LT Dominguez, HH Ng, S Rozen, LK Goh, BT Teh, P Tan. "Regulatory crosstalk between lineage- survival oncogenes KLF5, GATA4 and GATA6 cooperatively promotes gastric cancer development" Gut 64:707-719 (2015) IF 13.3

77. WK Lim, CK Ong, J Tan, AA Thike, CC Ng, V Rajasegaran, SS Myint, S Nagarajan, ND Nasir, JR McPherson, I Cutcutache, G Poore, ST Tay, WS Ooi, VK Tan, M Hartman, KW Ong, BK Tan, SG Rozen*, PH Tan*, P Tan*, BT Teh*. "Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma” Nat Genet 46:877-880 (2014) (* = corresponding author) IF 29.6

78. LB Tanner, C Chng, XL Guan, Z Lei, SG Rozen, MR Wenk. "Lipidomics identifies a

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requirement for peroxisomal function during influenza virus replication" J Lipid Res 55:1357-1365 (2014) IF 4.7

79. ZX Yeo, JC Wong, SG Rozen*, AS Lee*. "Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes" BMC Genomics 15:516 (2014) (* = corresponding author) IF 4.0

80. W Yu, JR McPherson, M Stevenson, R van Eijk, HL Heng, P Newey, A Gan, D Ruano, D Huang, SL Poon, CK Ong, T van Wezel, B Cavaco, SG Rozen, P Tan, BT Teh, RV Thakker, H Morreau. "Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC- catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion" J Clin Endocrinol Metab 100: E360–E364 (2014) IF 6.4

81. YS Yap, JR McPherson, CK Ong, SG Rozen, BT Teh, AS Lee, DF Callen. "The NF1 gene revisited - from bench to bedside" Oncotarget 5:5873–5892 (2014) IF 6.6

82. QS Soh, J Alföldi, T Pyntikova, LG Brown, T Graves, PJ Minx, RS Fulton, C Kremitzki, N Koutseva, JL Mueller, S Rozen, JF Hughes, E Owens, JE Womack, WJ. Murphy, Q Cao, P de Jong, WC Warren, RK Wilson, H Skaletsky, DC Page. "Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes" Cell 159:1-14 (2014) IF 33.1

83. M Muratani, N Deng, WF Ooi, SJ Lin, M Xing, C Xu, A Qamra, ST Tay, S Malik, J Wu, MH Lee, S Zhang, LL Tan, H Chua, WK Wong, HS Ong, LL Ooi, PK Chow, WH Chan, KC Soo, LK Goh, S Rozen, BT Teh, Q Yu, HH Ng, P Tan. "Nanoscale chromatin profiling of gastric adenocarcinoma reveals cancer-associated cryptic promoters and somatically acquired regulatory elements" Nat Commun 5:4361 (2014) IF 10.7

84. SL Poon, JR McPherson, P Tan, BT Teh, SG Rozen. "Genome wide carcinogen signatures promise new opportunities for cancer prevention" Genome Med (review) 6:24 (2014) IF 4.9

85. DW Bellott, JF Hughes, H Skaletsky, LG Brown, T Pyntikova, TJ Cho, N Koutseva, S Zaghlul, T Graves, S Rock, C Kremitzki, RS Fulton, S Dugan, Y Ding, D Morton, Z Khan, L Lewis, C Buhay, Q Wang, J Watt, M Holder, S Lee, L Nazareth, S Rozen, DM Muzny, WC Warren, RA Gibbs, RK Wilson, DC Page. "Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators" Nature 508:494-499 (2014) IF 42.4

86. M Brett, J McPherson, ZJ Zang, A Lai, E-S Tan, I Ng, L-C Ong, B Cham, P Tan, S Rozen, E-C Tan. "Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel" PLOS ONE 9: e93409 (2014) IF 3.5

87. Y Fan, G Marcy, ES Lee, S Rozen, CN Mattar, SN Waddington, EL Goh, M Choolani, JK Chan. "Regionally-Specified Second Trimester Fetal Neural Stem Cells Reveals Differential Neurogenic Programming". PLOS ONE 9: e105985 (2014) IF 3.5

88. Z Lei, IB Tan, K Das, N Deng, H Zouridis, S Pattison, C Chua, Z Feng, YK Guan, CH Ooi, T Ivanova, S Zhang, M Lee, J Wu, A Ngo, S Manesh, E Tan, BT Teh, JB Yan So, LK Goh, A Boussioutas, TK Hon Lim, H Flotow, P Tan, SG Rozen. "Identification of molecular subtypes of gastric cancer with different responses to PI3-kinase Inhibitors

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and 5-fluorouracil” Gastroenterol 145:554-565 (2013) (received journal editorial) IF 13.9

89. W Chan-on, M-L Nairismägi, CK Ong, S Dima, C Pairojkul, KH Lim, JR McPherson, WK Lim, I Cucutache., HL Heng, L Ooi, A Chung, P Chow, PC Cheow, SY Lee, IBH Tan, D Duda, A Nastase, SS Myint, BH Wong, A Gan, V Rajasegaran, CCY Ng, A Jusakul, S Zhang, P Vohra, W Yu, D Huang, P Yongvanit, S Wongkham, N Khuntikeo, V Bhudhisawasdi*, I Popescu*, SG Rozen*, P Tan*, BT Teh*. "Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers” Nat Genet 45:1474-1478 (2013) (* = corresponding author) IF 29.6

90. SL Poon, S-T Pang*, JR McPherson, W Yu, KK Huang, P Guan, W-H Weng, EY Siew, Y Liu, HL Heng, SC Chong, A Gan, ST Tay, WK Lim, I Cutcutache, D Huang, LD Ler, M-L Nairismägi, MH Lee, Y-H Chang, K-J Yu, W Chan-on, B-K Li, Y-F Yuan, C-N Qian, K-F Ng, C-F Wu, C-L Hsu, R M Bunte, MR Stratton, PA Futreal, W-K Sung, C-K Chuang, CK Ong, SG Rozen*, P Tan*, BT Teh*. "Genome wide mutational signatures of aristolochic acid and its application as a screening tool" Sci Transl Med 5:197ra101 (2013) (Received journal cover image and focus article; also highlighted by Science Magazine and The Scientist; (* = corresponding author) IF 14.4

91. EC Chua, G Shui, IT Lee, P Lau, LC Tan, SC Yeo, BD Lam, S Bulchand, SA Summers, K Puvanendran, SG Rozen, MR Wenk, JJ Gooley. "Extensive diversity in circadian regulation of plasma lipids and evidence for different circadian metabolic phenotypes in humans” Proc Natl Acad Sci U S A 110:14468-73 (2013) IF 9.8

92. SH Lim, KN Tran-Viet, TL Yanovitch, SF Freedman, T Klemm, W Call, C Powell, A Ravichandran, R Metlapally, EB Nading, S Rozen, TL Young. "CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States” Am J Ophthalmol 155:508-17 e5 (2013) IF 4.0

93. OM Sessions, Y Tan, KC Goh, Y Liu, P Tan, S Rozen, EE Ooi. "Host cell transcriptome profile during wild-type and attenuated dengue virus infection” PLoS Negl Trop Dis 7: e2107 (2013) IF 4.5

94. VJ Soler, KN Tran-Viet, SD Galiacy, V Limviphuvadh, TP Klemm, E St Germain, PR Fournie, C Guillaud, S Maurer-Stroh, F Hawthorne, C Suarez, B Kantelip, NA Afshari, I Creveaux, X Luo, W Meng, P Calvas, M Cassagne, JL Arne, SG Rozen, F Malecaze, TL Young. "Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis” J Med Genet 50:246-54 (2013) IF 5.6

95. S Thiem, TP Pierce, M Palmieri, TL Putoczki, M Buchert, A Preaudet, RO Farid, C Love, B Catimel, Z Lei, S Rozen, V Gopalakrishnan, F Schaper, M Hallek, A Boussioutas, P Tan, A Jarnicki, M Ernst. "mTORC1 inhibition restricts inflammation- associated gastrointestinal tumorigenesis in mice” J Clin Invest 123:767-81 (2013) IF 13.8

96. KN Tran-Viet, C Powell, VA Barathi, T Klemm, S Maurer-Stroh, V Limviphuvadh, V Soler, C Ho, T Yanovitch, G Schneider, YJ Li, E Nading, R Metlapally, SM Saw, L Goh, S Rozen, TL Young. "Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia” Am J Hum Genet 92:820-6 (2013) IF 11.0

97. R Kaddurah-Daouk, H Zhu, S Sharma, M Bogdanov, SG Rozen, W Matson, NO Oki, AA Motsinger-Reif, E Churchill, Z Lei, D Appleby, MA Kling, JQ Trojanowski, PM

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Doraiswamy, SE Arnold. "Alterations in metabolic pathways and networks in Alzheimer's disease” Transl Psychiatry 3: e244 (2013) IF 4.4

98. SG Rozen, JD Marszalek, K Irenze, H Skaletsky, LG Brown, RD Oates, SJ Silber, K Ardlie, DC Page. "AZFc deletions and spermatogenic failure: A population-based survey of 20,000 Y chromosomes” Am J Hum Genet 91:890-896 (2012) IF 11.2

99. A Untergasser, I Cutcutache, T Koressaar, J Ye, BC Faircloth, M Remm, SG Rozen. "Primer3 - New capabilities and interfaces” Nucleic Acids Res 40: e115 (2012) IF 8.3

100. JF Hughes, S Rozen. "Genomics and genetics of human and primate Y chromosomes" (review), Annu Rev Genomics Hum Genet 13:83-108 (2012) IF 9.5

101. CK Ong, C Subimerb, C Pairojkul, S Wongkham, I Cutcutache, W Yu, JR McPherson, GE Allen, CC Ng, BH Wong, SS Myint, V Rajasegaran, HL Heng, A Gan, ZJ Zang, Y Wu, J Wu, MH Lee, D Huang, P Ong, W Chan-On, Y Cao, CN Qian, KH Lim, A Ooi, K Dykema, K Furge, V Kukongviriyapan, B Sripa, C Wongkham, P Yongvanit, PA Futreal, V Bhudhisawasdi*, S Rozen*, P Tan*, BT Teh*. "Exome sequencing of liver fluke-associated cholangiocarcinoma” Nat Genet 44:690-3 (2012) (* = corresponding author) IF 35.2

102. ZJ Zang, I Cutcutache, SL Poon, SL Zhang, JR McPherson, J Tao, V Rajasegaran, HL Heng, N Deng, A Gan, KH Lim, CK Ong, D Huang, SY Chin, IB Tan, CC Y Ng, W Yu, Y Wu, M Lee, J Wu, D Poh, WK Wan, SY Rha, J So, M Salto-Tellez, KG Yeoh, WK Wong, Y-J Zhu, A Futreal, B Pang, Y Ruan, A Hillmer, D Bertrand, N Nagarajan, S Rozen*, BT Teh*, P Tan*. "Exome sequencing of gastric adenocarcinoma reveals recurrent somatic mutations in cell adhesion and chromatin remodeling genes” Nat Genet 44:570-74 (2012) (* = corresponding author) IF 35.2

103. ZX Yeo, M Chan, YS Yap, P Ang, S Rozen, AS Lee. "Improving indel detection specificity of the ion torrent PGM benchtop sequencer" PLoS One 7:e45798 (2012) IF 3.7

104. LL Cheng, Y Itahana, ZD Lei. NY Chia. Y Wu, Y Yu, SL Zhang, AA Thike, A Pandey, S Rozen, PM Voorhoeve, Q Yu, PH Tan, BH Bay, K Itahana, P Tan. "TP53 genomic status regulates sensitivity of gastric cancer cells to the histone methylation inhibitor 3-deazaneplanocin A (DZNep)” Clin Cancer Res 18:4201-12 (2012) IF 7.8

105. GC Koo, SY Tan, T Tang, SL Poon, GE Allen, L Tan, SC Chong, WS Ong, K Tay, M Tao, R Quek, S Loong, KW Yeoh, SP Yap, K A Lee, LC Lim, D Tan, C Goh, I Cutcutache, W Yu, CC Young Ng, V Rajasegaran, HL Heng, A Gan, CK Ong, S Rozen, P Tan, BT Teh, ST Lim. "Janus kinase 3-activating mutations identified in natural killer/T-cell lymphoma” Cancer Discov 2:591-7 (2012) IF 10.1

106. J Ye, G Coulouris, I Zaretskaya, I Cutcutache, S Rozen, T Madden. "Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction” BMC Bioinformatics 13:134 (2012) IF 3.0

107. N Deng, LK Goh, H Wang, K Das, J Tao, IB Tan, S Zhang, M Lee, J Wu, KH Lim, Z Lei, G Goh, QY Lim, A Lay-Keng Tan, DY Sin Poh, S Riahi, S Bell, MM Shi, R Linnartz, F Zhu, KG Yeoh, HC Toh, WP Yong, HC Cheong, SY Rha, A Boussioutas, H Grabsch, S Rozen, P Tan. "A comprehensive survey of genomic alterations in gastric

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cancer reveals systematic patterns of molecular exclusivity and co-occurrence among distinct therapeutic targets” Gut 61:673-684 (2012) IF 10.7

108. H Zouridis, N Deng, T Ivanova, Y Zhu, B Wong, D Huang, YH Wu, Y Wu, IB. Tan, N Liem, V Gopalakrishnan, Q Luo, J Wu, M Lee, WP Yong, LK Goh, BT Teh, S Rozen, P Tan. "Methylation subtypes and large-scale epigenetic alterations in gastric cancer” Sci Transl Med 4:156ra40 (2012) IF 7.8

109. JF Hughes, H Skaletsky, LG Brown, T Pyntikova, T Graves, RS Fulton, S Dugan, Y Ding, CJ Buhay, C Kremitzki, Q Wang, H Shen, M Holder, D Villasana, LV Nazareth, A Cree, L Courtney, J Veizer, H Kotkiewicz, TJ Cho, N Koutseva, S Rozen, DM Muzny, WC Warren, RA Gibbs, RK Wilson, DC Page. "Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes” Nature 483:82-86 (2012) IF 38.6

110. N Nagarajan, D Bertrand, AM Hillmer, ZJ Zang, F Yao, PE Jacques, AS Teo, I Cutcutache, Z Zhang, WH Lee, YY Sia, S Gao, PN Ariyaratne, A Ho, XY Woo, L Veeravali, CK Ong, N Deng, KV Desai, CC Khor, ML Hibberd, A Shahab, J Rao, M Wu, M Teh, F Zhu, SY Chin, B Pang, JB So, G Bourque, R Soong, WK Sung, BT Teh, S Rozen, X Ruan, KG Yeoh, PB Tan, Y Ruan. "Whole-genome reconstruction and mutational signatures in gastric cancer” Genome Biol 13: R115 (2012) IF 10.3

111. FX Ivan, JC Rajapakse, RE Welsch, S Rozen, T Narasaraju, GM Xiong, BP Engelward, VT Chow. "Differential pulmonary transcriptomic profiles in murine lungs infected with low and highly virulent influenza H3N2 viruses reveal dysregulation of TREM1 signaling, cytokines, and chemokines” Funct Integr Genomics 12:105-17 (2012) IF 3.1

112. W Yu, W Chan-On, M Teo, CK Ong, I Cutcutache, GE Allen, B Wong, SS Myint, KH Lim, PM Voorhoeve, S Rozen, KC Soo, P Tan, BT Teh. "First somatic mutation of E2F1 in a critical DNA binding residue discovered in well- differentiated papillary mesothelioma of the peritoneum” Genome Biol 12: R96 (2011) IF 9.0

113. S Rozen. "Defending Male Fertility" (Perspective). Sci Transl Med 3:92ps31 (2011) IF 7.8

114. X Han, S Rozen, SH Boyle, C Hellegers, H Cheng, JR Burke, KA Welsh-Bohmer, PM Doraiswamy, R Kaddurah-Daouk. "Metabolomics in early Alzheimer's disease: identification of altered plasma sphingolipidome using shotgun lipidomics” PLoS One 6: e21643 (2011) IF 4.1

115. L Goh, GB Chen, I Cutcutache, B Low, BT Teh, S Rozen, P Tan. "Assessing matched normal and tumor pairs in next-generation sequencing studies” PLoS One 6: e17810 (2011) IF 4.1

116. IB Tan, I Cutcutache, ZJ Zang, J Iqbal, SF Yap, W Hwang, W-T Lim, BT Teh, S Rozen, E-H Tan, P Tan "Fanconi's anemia in adulthood: Chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing” J Clin Oncol 29: e591-594 (2011) IF 18.4

117. IB Tan, T Ivanova, KH Lim, CW Ong, N Deng, J Lee, SH Tan, J Wu, MH Lee, CH Ooi, SY Rha, WK Wong, A Boussioutas, KG Yeoh, J So, WP Yong, A Tsuburaya, H Grabsch, HC Toh, S Rozen, JH Cheong, SH Noh, WK Wan, JA Ajani, J-S Lee, MS Tellez, P Tan. "Intrinsic Genomic Subtypes of Gastric Cancer Predict Survival and

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Exhibit Distinct Responses to Standard Cytotoxics” Gastroenterology 141:476- 485.e11 (2011) IF 11.7

118. ZJ Zang, CK Ong, I Cutcutache, W Yu, SL Zhang, D Huang, LD Ler, K Dykema, A Gan, J Tao, S Lim, Y Liu, PA Futreal, H Grabsch, KA Furge, LK Goh, S Rozen*, BT Teh*, P Tan*. "Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing” Cancer Res 71:29-39 (2011) (* = corresponding author) IF 7.9

119. R Kaddurah-Daouk, S Rozen, W Matson, X Han, CM Hulette, JR Burke, PM Doraiswamy, KA Welsh-Bohmer. "Metabolomic changes in autopsy-confirmed Alzheimer's disease” Alzheimers Dement 7:309-317 (2011) IF 6.4

120. D Bellott, HSkaletsky, T Pyntikova , E Mardis , TA Graves , C Kremitzki , L Brown , S Rozen, WC Warren , RK Wilson, DC Page. "Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition” Nature 466:612-616 (2010) IF 36.1

121. JF Hughes, H Skaletsky, T Pyntikova, TA Graves, PJ Minx, RS Fulton, SD McGrath, WC Warren, DP Locke, ER Mardis, SKM van Daalen, S Repping, C Friedman, BJ Trask, S Rozen, RK Wilson, DC Page. "Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content” Nature 463:536-539 (2010) IF 36.1

122. S Rozen. "Genome-scale technologies foster advances in neurological and behavioral research” (Review) Curr Psych Rev. 6:74-81 (2010)

123. JK Yao, GG Dougherty Jr, RD Reddy, MS Keshavan, DM Montrose, WR Matson, S Rozen, RR Krishnan, J McEvoy, R Kaddurah-Daouk. "Altered interactions of tryptophan metabolites in first-episode neuroleptic-naive patients with schizophrenia” Mol Psychiatry 15:938-953 (2010) IF 12.5

124. S Rozen, JD Marszalek, RK Alagappan, H Skaletsky, DC Page. "Remarkably little variation in proteins encoded by the Y chromosome’s single-copy genes, implying effective purifying selection” Am J Hum Genet 85:923-928 (2009) IF 10.2

125. P Mannelli, A Patkar, S Rozen, W Matson, R Krishnan, R Kaddurah-Daouk. "Opioid use affects antioxidant activity and purine metabolism” Hum Psychopharm 24:666- 675 (2009) IF 2.1

126. AA Patkar, S Rozen, P Mannelli, W Matson, C Pae, KR Krishnan, R Kaddurah- Daouk. "Alterations in tryptophan and purine metabolism in cocaine addiction: A metabolomic study” Psychopharmacology (Berl). 206:479-489 (2009) IF 3.7

127. L Visser, GH Westerveld, CM Korver, SKM van Daalen, SE Hovingh, S Rozen, F van der Veen, S Repping. "Y chromosome gr/gr deletions are a risk factor for low semen quality” Hum Reprod 24:2667-2673 (2009) IF 3.8

128. S Repping, SKM van Daalen, LG Brown, C Korver, J Lange, JD Marszalek, T Pyntikova, F van der Veen, H Skaletsky, DC Page, S Rozen. "High mutation rates

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have driven extensive structural polymorphism among human Y chromosomes” Nat Genetics 38:463-467 (2006) IF 24.2

129. JF Hughes, H Skaletsky, S Rozen, RK Wilson, DC Page. "Has the chimpanzee Y chromosome been sequenced?" Nat Genetics 38:853-854 (2006) IF 24.2

130. A Ballabio, D Nelson, S Rozen. "Genetics of disease, The sex chromosomes and human disease, Editorial overview” (Review) Curr Opin Gene Dev 16:1-4 (2006) IF 10.0

131. JF Hughes, H Skaletsky, T Pyntikova, PJ Minx, T Graves, S Rozen, RK Wilson, DC Page. "Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee” Nature 437:101-104 (2005) IF 29.3

132. S Rozen, ME Cudkowicz, M Bogdanov, WR Matson, BS Kristal, C Beecher, S Harrison, P Vouros, J Flarakos, K Vigneau-Callahan, TD Matson, KM Newhall, MF Beal, RH Brown, Jr., R Kaddurah-Daouk. "Metabolomic analysis and signatures in motor neuron disease” Metabolomics 1:101-108 (2005)

133. S Repping, SKM van Daalen, CM Korver, LG Brown, JD Marszalek, J Gianotten, RD Oates, S Silber, F van der Veen, DC Page, S Rozen. "A family of human Y chromosomes has dispersed throughout Northern Eurasia despite a 1.8 Mb deletion in the Azoospermia Factor c region” Genomics 83:1046-1052 (2004) IF 3.8

134. S Repping, CM Korver, RD Oates, S Silber, F van der Veen, DC Page, S Rozen. "Are sequence family variants useful for identifying deletions in the human Y chromosome?" Am J Hum Genet 75:514-517 (2004) IF 12.3

135. S Repping, H Skaletsky, L Brown, SKM van Daalen, CM Korver, T Pyntikova, T Kuroda-Kawaguchi, JWA de Vries, RD Oates, S Silber, F van der Veen, DC Page, S Rozen. "Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection” Nat Genetics 35:247-251 (2003) IF 26.5

136. S Rozen, H Skaletsky, JD Marszalek, PJ Minx, HS Cordum, RH Waterston, RK Wilson, DC Page. "Abundant gene conversion between arms of massive palindromes in human and ape Y chromosomes” Nature 423:873-876 (2003) IF 31.0

137. H Skaletsky, T Kuroda-Kawaguchi, PJ Minx, HSL Hillier, LG Brown, S Repping, T Pyntikova, J Ali, K Delahunty, H Du, G Fewell, G Fulton, T Graves, S-F Hou P Latrielle, R Leonard, R Maupin, T Miner, W Nash, C Nguyen, P Ozersky, K Pepin, S Rock, T Rohlfing, K Scott, C Stoneking, C Strong, A Tin-Wollam, RH Waterston, RK Wilson, S Rozen, D C Page. "The male-specific region of the human Y chromosome: A mosaic of discrete sequence classes” Nature 423:825-837 (2003) IF 31.0

138. S Repping, H Skaletsky, J Lange, S Silber, F van der Veen, RD Oates, DC Page, S Rozen. "Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure” Am J Hum Genet 71:906-922 (2002) IF 10.6

139. T Kuroda-Kawaguchi, H Skaletsky, LG Brown, PJ Minx, HS Cordum, RH Waterston, RK Wilson, S Silber, R Oates, S Rozen, DC Page. "The AZFc region of the Y

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chromosome features massive palindromes, uniform recurrent deletions, and testis gene families” Nat Genetics 29:279-286 (2001) IF 29.6

140. C Tilford, T. Kuroda-Kawaguchi, H Skaletsky, S Rozen, LG Brown, M Rosenberg, JD McPherson, K Wylle, M Sekhon, TA Kucaba, RH Waterston, DC Page. "A physical map of the human Y chromosome” Nature 409:943-945 (2001) IF 28.0

141. E Drenkard, BG Richter, S Rozen, LM Stutius, NA Angell, M Mindrinos, RJ Cho, PJ Oefner, RW Davis, FM Ausubel. "A simple procedure for the analysis of single nucleotide polymorphisms facilitates map-based cloning in Arabidopsis” Plant Physiol 124:1483-1492 (2000) IF 4.8

142. S Rozen, H Skaletsky. "Primer3 on the WWW for general users and for biologist programmers” In S. Krawetz, S. Misener, eds. Bioinformatics Methods and Protocols in the series Methods in Molecular Biology Humana Press, Totowa, NJ, 2000, pages 365-386 Cited 16,400 times (Google Scholar)

143. C Sun, H Skaletsky, S Rozen, J Gromoll, E Nieschlag, R Oates, DC Page. "Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses” Hum Mol Genet 9:2291-2296 (2000) IF 9.0

144. N Goodman, S Rozen, L Stein. "LabBase: data and workflow management for large scale biological research” In S. Letovsky, ed. Bioinformatics: Databases and Systems Kluwer Academic Publishers, Norwell, MA, 1999

145. RG Steen,..., S Rozen, ..., HJ Jacob. "A high-density integrated genetic linkage and radiation hybrid map of the laboratory rat genome” Genome Res 9 (advance electronic publication) (1999)

146. JT-L. Wang, S Rozen, BA Shapiro, D Shasha, Z Wang, M Yin. "New techniques for DNA sequence classification” J Comp Bio 6:209-218 (1999)

147. JT- . Wang, TG Marr, S Rozen, D Shasha, BA Shapiro, G-W Chirn, Z Wang, K Zhang. "Pattern discovery and classification in biosequences” In JT-L Wang, B A

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Shapiro, D Shasha, eds. Pattern Discovery in Biomolecular Data: Tools, Techniques, and Applications. Oxford University Press, 1999, pages 55-74

148. P Deloukas,..., S Rozen,..., DR Bently. "A physical map of 30,000 human genes” Science 282:744-746 (1998)

149. D Wang,..., S Rozen, TJ Hudson, R Lipshutz, M Chee, ES Lander. "Large-scale identification, mapping and genotyping of single nucleotide polymorphisms in the human genome” Science 280:1077-1082 (1998)

150. N Goodman, S Rozen, LD Stein. "The LabFlow System for Workflow Management in Large Scale Biology Research Laboratories” Proceedings of the 6th International Conference on Intelligent Systems for Molecular Biology (ISMB) 6:69-77 (1998)

151. N Goodman, S Rozen, LD Stein, AG Smith. "The LabBase System for Data Management in Large Scale Biology Research Laboratories” Bioinformatics 14:562- 574 (1998)

152. N Kenmochi, T Kawaguchi, S Rozen, E Davis, N Goodman, TJ Hudson, T Tanaka, DC Page. "A map of 75 human ribosomal protein genes” Genome Res 8:509-523 (1998)

153. AJ Bonner, A Shrufi, S Rozen. "Database requirements for workflow management in a high-throughput genome laboratory” NSF Workshop on Workflow and Process Automation in Information Systems: State-of-the-art and Future Directions (1996)

154. AJ Bonner, A Shrufi, S Rozen. "LabFlow-1: A database benchmark for high- throughput workflow management” Proceedings of the International Conference on Extending Database Technology (EDBT) (1996) acceptance ratio 31/178

155. R Saxena, LG Brown, T Hawkins, RK Alagappan, H Skaletsky, MP Reeve, R Reijo, S Rozen, MB Dinulos, CM Disteche, DC Page. "The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned" Nat Genetics 14:292-299 (1996)

156. GD Schuler, ..., S Rozen, ..., TJ.Hudson. "A gene map of the human genome” Science 274:540-546 (1996)

157. L Stein, S Rozen, N Goodman. "Managing laboratory workflow with LabBase” In Proceedings of the 1994 Conference on Computers in Medicine. World Scientific Publishing Company (1996)

158. AJ Bonner, A Shrufi, S Rozen. "Benchmarking object-oriented DBMSs for workflow management” OOPSLA'95 Workshop on Object Database Behavior, Benchmarks, and Performance. Austin, Texas (1995)

159. TJ Hudson,…, S Rozen,…, ES Lander. "An STS-based map of the human genome” Science 270:1945-1954 (1995)

160. R Reijo, T-Y Lee, P Salo, R Alagappan, LG Brown, M Rosenberg, S Rozen, T Jaffe, D Straus, O Hovatta, A de la Chapelle, S Sibler, DC Page. "Diverse spermatogenic

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defects in humans caused by overlapping de novo Y deletions encompassing a novel RNA-binding protein gene” Nat Genetics 10:383-393 (1995)

161. S Rozen, L Stein, N Goodman. "LabBase: A database to manage laboratory data in a large-scale genome-mapping project” IEEE Engineering in Medicine and Biology 14:702-709 (1995)

162. N Goodman, S Rozen, L Stein. "Requirements for a Deductive Query Language in the MapBase Genome-Mapping Database” In R. Ramakrishnan, ed. Applications of Logic Databases. Kluwer, 1994, pages 259-278

163. N Goodman, S Rozen, L Stein. "Building a laboratory information system around a C++-based object-oriented DBMS” Proceedings of the 20th International Conference on Very Large Data Bases. (1994)

164. S Rozen, L Stein, N Goodman. "Constructing a domain-specific DBMS using a persistent object system” Sixth International Workshop on Persistent Object Systems. (1994) acceptance ratio 27/56

165. L Stein, A Marquis, E Dredge, MP Reeve, M Daly, S Rozen, N Goodman. "Splicing UNIX into a genome mapping laboratory” USENIX Summer 1994 Technical Conference. pages 221-229 (1994)

166. S Rozen. "Automating Physical Database Design: An Extensible Approach” Ph.D. thesis, Courant Institute of Mathematical Sciences, New York University (Mar 1993), 124 pages

167. S Rozen, D Shasha. "A framework for automating physical database design” Proceedings of the 17th International Conference on Very Large Data Bases. pages 401-411 (1991) acceptance ratio 59/323

168. S Rozen, D Shasha. "Rationale and design of BULK” Proceedings of the Third International Workshop on Database Programming Languages. pages 71-85 (1991)

169. S Rozen, D Shasha. "Using a relational system on Wall Street: The good, the bad, the ugly, and the ideal” Communications of the ACM. 32:8 988-994 (1989)

Software, technical reports, proposals, etc. S. Rozen, W.C. Warren, G. Weinstock, S.J. O’Brien, R.A. Gibbs, R.K. Wilson, D.C. Page. "Sequencing and Annotating New Mammalian Y Chromosomes, A White Paper Proposal, July, 2006” A proposal to the National Human Genome Research Institute, NIH S. Rozen, H.J. Skaletsky. "Primer3: A software component for picking PCR primers” 1996-present. Source code available at https://github.com/primer3-org. S. Rozen et al. "Workflow Adapter Module: Draft Specification” Technical report (1997) S. Rozen, L. Stein, N. Goodman. "LabBase User Manual” (1997) 21 pages N. Goodman, S. Rozen, L. Stein. "Database-and Workflow-Management Challenges Posed by the ” Technical Report (1995) 31 pages N. Goodman, S. Rozen. "A Freely Sharable Database Management System Designed for Use in Component-Based, Modular Genome Informatics Systems” From a proposal to the Department of Energy (1994) 22 pages S. Rozen, M.J. Daly, M.-P. Reeve, N. Goodman. "GENOME-MAP: Real-World Test Data and Queries for Logic Databases” Technical Report (1993) 7 pages

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S. Rozen, D. Shasha. "Automating physical database design: A general approach and its evaluation” Technical Report (1993) 51 pages M. Karr, W.G. Morris, S. Rozen. "Global optimization for a coagulating code generator: Final technical report” Software Options, Inc., Technical Report (1991) 7 pages W.G. Morris, S. Rozen. "Interim report on E-L/CCG benchmarks” Technical Report SOI- 01-90, Software Options, Inc. (1991) 40 pages

Other Activities 2000 to present, Editorial Board for Information Systems 2005 to 2010, Member of Scientific Board, Metabolomics Society (http://www.metabolomicssociety.org) 2006 Issue editor for Current Opinion in Genetics and Development, vol. 16, issue 16, "Genetics of disease, The sex chromosomes and human disease” with A. Ballabio and D. Nelson 2013 to 2015, Academic Editor for PLOS ONE 2013 to 2020, Principal Investigator, International Cancer Genome Consortium (Singapore, Biliary Duct Cancer) 2014 to present, Editorial Board for Genome Medicine 2014 to 2020, Principal Investigator, International Cancer Genome Consortium (Singapore, T-Cell and NK-Cell Lymphomas) 2014 to 2020, co-leader of the International Cancer Genome Consortium's Pan Cancer Analysis Working Group on Mutation Signatures 2017 to present, PRISM Joint Research Institute Management Committee (JRIMC) 2017 to present, National Cancer Research Institute Singapore (NCRIS) Management Committee 2018 Member of the Program Committee for the 2018 American Association for Cancer Research (AACR) Annual Meeting and Chair of Minisymposium "Computational Methods and Resources for Cancer Research" at AACR Annual Meeting 2018 to present, Member, Duke-NUS IT Steering Committee 2019 to 2021, Co-Advisor, SingHealth Strategy Retreat 2019 Group 19 (Innovation and Digitalization Strategies) 2020 to present, Member, SingHealth ODySSEy Steering Committee 2020 to present, Member, SingHealth Innovation Council

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Reviewer for American Journal of Human Genetics Annals, Academy of Medicine, Singapore Annals of Human Genetics Bioinformatics BMC Medical Genomics Cancer Epidemiology, Biomarkers & Prevention Gene Genome Biology Genome Research Human Genetics Human Molecular Genetics Human Reproduction Information Systems International Journal of Andrology Journal of Clinical Investigation Journal of Ethnopharmacology Kidney International Reports Metabolomics Nature Nature Communications Nature Genetics New England Journal of Medicine Nucleic Acids Research Oncogene PLOS Genetics PLOS ONE Science Science Translational Medicine Study sections and funding application reviews 2020 National Medical Research Council, Singapore, Young Individual Research Grant 2015 UK Medical Research Council, Career Development Award 2013 A*STAR (Singapore) JCO Project Grant 2011 National Medical Research Council, Singapore 2007 NIH Clinical Special Emphasis Panel in Digestive Sciences 2006 GenomeCanada 2005 National Cancer Institute/NIH, Metabolomics for Early Cancer Detection

Patents Method of Detecting Cancer Tissue. Singapore patent application 10201904540S, filed by National University of Singapore, 2019 May 21

Grouping for Classifying Gastric Cancer. US Patent 20150254400, published 2015/9/10

Grouping for Classifying Gastric Cancer and Methods of Using the Same. (EPTL ref. BRC/P/07175/00/SG) Singapore filing 201206943-1 (2012)

Markers of Alterations in the Y Chromosome and Uses Therefor. EP Patent 1,794,321 (2007); US Patent App. 11/195,344 (2005); US Patent App. 12/251,270 (2008)

Coding Sequence Polymorphisms in Vascular Pathology Genes. US Patent 6,692,909 (2004); EP Patent 1,068,353 (2001); WO Patent 1,999,050,454 (1999)

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International Invited Lectures 2021 Environmental Mutagenesis and Genomics Society Applied Genetic Toxicology SIG Mid-year meeting, by Zoom, March 2, Update on widespread exposure to the mutagen aristolochic acid in tumors and normal tissue 2020 19th International Conference on Bioinformatics (InCoB 2020), by Zoom, Nov 28, Keynote: Mutational Signatures: What caused the mutations in this cancer? Why do we care? (https://github.com/steverozen/incob2020.talk) 2020 Intelligent Systems for Molecular Biology (ISMB), by Zoom, July 11, 12, Tutorial, Mutational signature analysis: pipelines, machine learning, and benchmarking on synthetic data (https://github.com/steverozen/ISMB.mutsig.tutorial) 2019 Joint meeting of the 6th Asian Congress on Environmental Mutagens and the 48th Annual Meeting of the Japan Environmental Mutagenesis Society (ACEM/JEMS), Tokyo, Nov 18-20, How big is the problem of aristolochic acid? 2019 Joint meeting of the 6th Asian Congress on Environmental Mutagens and the 48th Annual Meeting of the Japan Environmental Mutagenesis Society (ACEM/JEMS), Tokyo, Nov 18-20, Mutational signatures in cancer epidemiology: the example of aflatoxin 2019 Frontiers in Cancer Science, Singapore, Nov 4-6, Aristolochic acid: A widespread cause of cancers in Asia 2019 Environmental Mutagenesis and Genomics Society Annual Meeting, Washington, DC, USA, Sep 19-23, Mutational signature analysis for molecular cancer epidemiology: The example of aristolochic acid 2019 Environmental Mutagenesis and Genomics Society Annual Meeting, Special Interest Group on In Vivo Mutagenesis, Washington, DC, USA, Sep 22, Robust experimental and computational methods for in-depth characterization of mutational signatures 2019 International Agency for Research on Cancer (IARC), From mutational signatures to cancer prevention: a focus around Mutographs study, Lyon, France, Jul 11-12, Aristolochic acid signature in liver cancer -- Mutational signatures revealed a previously unexpected but widespread carcinogenic exposure 2018 US National Institutes of Health, National Cancer Institute, Workshop on tumor signatures, Gaithersburg, MD, USA, Oct 11, What are somatic mutation signatures (and why we should study them) 2018 The 8th Global Summit on Regulatory Science, Risk/Benefit of Dietary Supplements and Herbal Medicine in the Era of Data Science, sponsored by National Institutes for Food and Drug Control (NIFDC), Beijing, China, Sep 26-27, Mutational signature analysis for molecular cancer epidemiology: the example of aristolochic acid 2018 Chinese Academy of Sciences, Institute of Zoology, Beijing, China, Sep 25, Widespread AA mutations in liver cancer: What are the implications? 2018 Peking University, Beijing, China, Sep 25, Widespread AA mutations in liver cancer: What are the implications? 2018 Cold Spring Harbor Asia, Frontiers in Computational Biology and Bioinformatics, Suzhou, China, Sep 6, The repertoire of mutational signatures in human tumours 2018 Duke Kunshan University, Duke Kunshan Colloquium Series, Kunshan, China, Sep 3, Bioinformatics and the genomic revolution with examples from cancer biology 2018 Duke Kunshan University, Global Health Research Lecture Series, Kunshan, China, Sep 3, Widespread AAA mutations in liver cancer: What are the implications?

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2018 Shanghai Jiaotong University Medical School, School of Public Health, The 2018 Symposium on Aristolochic Acid Safety, Shanghai, China, Aug 30, Widespread AA mutations in liver cancer: What are the implications? 2018 ICBCB 6th International Conference, Chengdu, China, Mar 13, The repertoire of mutational signatures in human cancer 2017 AMSI Bioinfo Summer 2017, Monash University, Melbourne, Australia, Dec 4, Computational analysis of mutations in tumors reveals unexpected carcinogenic exposures 2017 ICEM-ACEM The 12th International Conference & 5th Asian Congress on Environmental Mutagens, Seoul, South Korea, Nov 15, Mutational signatures indicate that aristolochic acids and their derivatives are extremely prevalent in Taiwan and pose a global health problem 2017 ICEM-ACEM The 12th International Conference & 5th Asian Congress on Environmental Mutagens, Seoul, South Korea, Nov 15, Signatures of Mutational Processes in Human Cancer 2017 Environmental Mutagenesis and Genomics Society Annual Meeting, Environmental Health Sciences Bridging the Gap between Exposure, Mechanism and Public Health, Raleigh, NC, USA Sep 10, Frequent mutational signature of aristolochic- acid derivatives in hepatocellular carcinomas in Asia and Taiwan 2017 Genomic and Precision Medicine Forum, Duke University, Durham, NC, USA, Sep 7, Integrative analysis of activity, blood lipids, and cardiac imaging in healthy volunteers and Widespread exposure to an herbal medicine mutagen in Asian cancers 2017 International Cancer Genome Consortium 13th Scientific Workshop, Seoul, South Korea, June 12, ICGC Mutational Signatures PCAWG-7 2017 American Association for Cancer Research (AACR), Annual Meeting, Washington, DC, United States, April 4, A rogues’ gallery of mutational signatures and their causes and consequences 2017 Grand Rounds at Chang Gung Memorial Hospital, Taipei, Taiwan, March 6, Implications and impact of using NGS to identify mutational signatures of carcinogenic exposure 2016 Keynote Speaker at the IEEE International Conference on Computational Intelligence in Bioinformatics and Computational Biology (IEEE CIBCB 2016) Chiang Mai, Thailand, Oct 5, 2016, Big genome data sheds light on cancer causes 2016 Environmental Mutagenesis and Genomics Society Annual Meeting, From Environment to (Epi)Genome and Back Again, Kansas City, MO, USA, Sep 25, Genome-wide aflatoxin B1 mutational signature in cells, mice, and human tumors: Implications for molecular epidemiology; also served as session chair 2016 International Cancer Genome Consortium 12th Scientific Workshop, Boston, MA, USA, Sep 19, ICGC Pan cancer mutational signatures preliminary results 2016 NIEHS, Durham, NC, USA, Sep 13, Detection and experimental elucidation of mutation signatures and their value for understanding cancer development and epidemiology 2016 International Agency for Research on Cancer (IARC) Conference, Global Cancer Occurrence, Causes, and Avenues to Prevention, Lyon, France, June 10, Genome- wide AFB1-induced mutational signature in cells, mice and human tumors – implications for molecular epidemiology

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2015 Keynote Speaker at the 6th International Conference on Computational Systems- Biology and Bioinformatics, Bangkok, Thailand, Nov 23, Genome bioinformatics' successes, challenges, and opportunities in the era of low-cost sequencing 2015 Genome Informatics Workshop / International Conference on Bioinformatics (GIW/InCoB), Tokyo, Japan, Sep 11, Mutation signatures implicate aristolochic acid in bladder cancer development 2015 NGS Data Congress, London, UK, June 15, Genome-wide somatic mutation signatures reveal environmental causes of cancer (also acted as session chair for "NGS Data Management") 2015 The Francis Crick Institute, London, UK, June 17, Genome-wide somatic mutation signatures reveal environmental causes of cancer 2015 World Health Organization, International Agency for Research on Cancer, Lyon, France, Feb 19, Physical mutation signatures for safety testing and cancer epidemiology: review and update 2014 Korean Society for Bioinformatics and Systems Biology, 2014 Conference on Bioinformatics, Seoul, Korea, Nov. 14, Keynote talk: Genome bioinformatics past, present, and future 2014 World Health Organization, International Agency for Research on Cancer, Lyon, France, Sept. 10, High-throughput physical mutation signatures for safety testing and cancer epidemiology 2014 The First International Workshop of Biomarkers for Human Diseases –Cancer, Shenzhen, April 18, Mutational fingerprints of an incredibly genotoxic herbal remedy 2013 8th International Conference on Genomics, Shenzhen, Nov 1, Making sense of cancer genomes 2013 3rd Annual Next Generation Sequencing Asia Congress, Singapore, October 8, Making sense of cancer genomes 2013 Controversies in Personalized Oncology, Barcelona, March 9, Molecular subtypes of gastric cancer show systematic differences in response to PI3K inhibitors and fluorouracil 2013 Human Genome Meeting and International Conference on Genetics (HGM ICG 2013), Singapore, April 18, Bioinformatics for genetics and genomics: what should we be teaching? 2013 Illumina Asia-Pacific Scientific Summit, Phuket, Thailand, April 23, Next generation sequencing identifies new driver genes in Asian cancers 2013 Quantitative Medicine Forum, Duke-NUS, Singapore, Feb 13, Cancer genomics: Finding therapeutically promising subtypes of gastric cancer 2012 Frontiers in Cancer Science, Singapore, Nov. 7 Molecular subtypes of gastric cancer show systematic differences in genomic and epigenetic characteristics and in drug response 2012 Agilent Human Genetics Summit, Singapore, July 2-3, Exome sequencing identifies new driver genes in Asian cancers 2011 Federation of Asian and Oceanian Biochemists and Molecular Biologists (FAOBMB) Conference, Singapore, Oct 5-7, Analyzing NGS data: From sequence to function in tumor resequencing 2008 Department of Biological Sciences, National University of Singapore, Sep 26, Human Y chromosome mutation and sperm production

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2008 Department of Veterinary Anatomy & Public Health, Texas A&M, Texas, April 3, Y Chromosomes — Collateral damage in the war between the sexes 2008 University of Georgia, March 31, Y Chromosomes — Collateral damage in the war between the sexes 2008 University of Kansas, March 26, Y Chromosomes — Collateral damage in the war between the sexes 2008 Mayo Clinic, Rochester Minnesota, March 7, Generating, analyzing, interpreting metabolomic data 2006 Kato Ladies Clinic, Tokyo, Japan, March 31, Human Y chromosome: Evolution and sequence 2006 DNA Structure, Genomic Rearrangements and Human Disease, Institute of Biosciences and Technology, Houston, Texas, March 12-14, Large Scale variation among human y chromosomes 2005 Pacific Grove, California, Y Chromosome and Male Germ Cell Biology in Health and Disease in the Post Genomic Era, Sept. 21-23, The Human Y chromosome: Structure and genes 2005 University of Pennsylvania, Center for Research on Reproduction and Women’s Health, Nov 30, The human Y chromosome and spermatogenesis 2003 Center for Reproductive Medicine University of Amsterdam, The Netherlands, Oct., How testis genes survive on the Y chromosome 2003 Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark, Oct., How testis genes survive on the Y chromosome 2002 Germ Cells, Cold Spring Harbor Laboratory, New York, Oct. 9-13, Rethinking the rotting Y: Palindromes, gene conversion, and germ-cell genes 2000 Boston University, Boston, , April 10, The Y chromosome exposed: sequence, genes, phenotypes, and functional variation 2000 Clontech Laboratories, Palo Alto, California, June 15, Sequence of the human Y chromosome genes, phenotypes, and functional variation 2000 Great Apes: Phenotypes and Genotypes, Banbury Center, Cold Spring Harbor Laboratory, March 19-22, Sequence of the human Y chromosome: genes, gene families, and phenotypes 1997 Third International HUGO Single Chromosome Workshop on the Y Chromosome, University of Heidelberg, Germany, April 13-16, Mapping and sequencing the human Y chromosome 1994 Conference on Computers in Medicine, Austin, Texas, Managing laboratory workflow with LabBase 1994 20th International Conference on Very Large Data Bases, Santiago, Chile, Building a laboratory information system around a C++-based object-oriented DBMS 1994 Sixth International Workshop on Persistent Object Systems, Tarascon, France Constructing a domain-specific DBMS using a persistent object system 1991 17th International Conference on Very Large Data Bases, Barcelona, Spain, A framework for automating physical database design 1991 Third International Workshop on Database Programming Languages, Nafplion, Greece, rationale and design of BULK

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Local Invited Lectures 2019 Guest lecturer for GMS6812, Duke-NUS, March 14, 15, Foundations of Precision Medicine 2019 c-BIG Symposium, Genome Institute Singapore, March 11, Personalized poison: what caused the mutations in this tumour? 2018 Asia Pacific Society for Human Genetics Autumn School, Nov 1, Detecting mutational signatures in cancers 2018 SingHealth Duke-NUS Scientific Conference, Panomics Symposium, Sep 22, Omics in the prevention and treatment of aristolochic acid (AA) disease 2018 Duke-NUS Centre for Quantitative Medicine, Symposium on Statistical Inference and Machine Learning, Sep 12, Mutational signature analysis: What caused the mutations in this cancer? 2018 Singapore National Precision Medicine Alliance, Apr 23, Mutational signatures reveal endogenous and exogenous mutational processes 2017 Autism Spectrum Disorder – New Advances in Autism Research Symposium (Duke- NUS), Jan 17, Genomics linked to in-depth functional studies to identify genetic causes of autism 2016 The Centre for Big Data and Integrative Genomics (c-BIG), 10 Nov, PRISM: Big Data, genomics, and precision healthcare in Singapore 2016 Roundtable leader for NGS: from genomic data to personalized healthcare: creating the foundation for translational science at Proventa International Bioinformatics Strategy Meeting, Oct 19 2016 Keynote Speaker for Raffles Science Symposium, 27 Jan, Data driven biomedicine 2015 Duke-NUS CSCB & NCC RIP/JC Conference, Sep 14, Mutation signatures implicate aristolochic acid in bladder cancer development 2014 Signature Seminar Series, Duke-NUS Graduate School Singapore, Oct 28, Genome bioinformatics past, present, and future 2014 Workshop on Predictive Models, Alternative Methods and Tissue Engineering sponsored by A*STAR and L’Oreal, May 20, Assessing mutagenicity with massively parallel sequencing 2012 Duke-NUS Medical School, Singapore, talk for parents of children with ASD, Sep 22, Finding genetic causes of autism spectrum disorders 2012 Principles of Pharmacogenetics for Drug Regulators, for the Health Services Authority, Singapore, Feb 9, Basic principles of human genetics 2011 Pathlight School, Singapore, talk for parents of children with ASD, Oct 29, Finding genetic causes of autism spectrum disorders 2011 Singapore Institute of Mental Health, Child Guidance Centre, talk for parents of children with ASD, May 21, Finding genetic causes of autism spectrum disorders 2011 Singapore Institute of Mental Health, Child Guidance Centre, talk for parents of children with ASD, April 9, Finding genetic causes of autism spectrum disorders 2010 Pharmacogenomics Workshop for the Health Services Authority, Singapore, Jan 25, Basic principles of human genetics 2009 Joint BII-DBS Workshop – Modern Approaches to Biological Problems, National University of Singapore, Sept. 3-4, Can exon arrays help us understand cancer development?

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2009 Singapore MIT Alliance, Programme in Computation and Systems Biology Research Symposium, Singapore, July 28, Cancer genomics, bioinformatics, and high-throughput systems biology 2004 Mammalian Genetics, Genomics and Development, Whitehead Institute, Jan. 12, How lively is the human Y chromosome? A survey of large scale rearrangements 2004 Massachusetts Institute of Technology, course 18.417, “Introduction to Computational Molecular Biology,” Nov. 2, lecture Microarrays and analysis of gene expression data from microarrays 2003 Whitehead Institute, Whitehead Forum, Nov. 20, How have testis genes survived on the human Y chromosome? 2001 Boston IVF, Waltham, Massachusetts, January 25, 2001, Recent advances in understanding the sequence of the Y chromosome 2000 Whitehead Institute, Lecture Series for High School Teachers, April 28, The human X and Y: A 300 million year history 1998 Massachusetts Institute of Technology, Independent Activities Period (IAP) lecture, Jan., Common variants project, finding common alleles responsible for common phenotypes

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