Marilyn M. Li, MD, MS

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Marilyn M. Li, MD, MS, is the Vice Chief of the Division of Genomic Diagnostics and Director of Cancer Genomic Diagnostics at Children's Hospital of Philadelphia.

Areas of Expertise: Clinical application of high throughput molecular technologies for integrated cancer genomic diagnosis, Liquid biopsy for cancer screen, risk stratification and monitoring, Characterization of tumorigenesis roles of novel fusions identified during RNA-seq of tumor tissues, and cancer associated fusions in healthy individuals, Molecular diagnosis of overgrowth syndromes caused by somatic mutations in PI3K/AKT/mTOR signaling pathway
Locations: Main Hospital
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - Tongji Medical College, Huazhong University of Science and Technology (HUST), Wuhan, China


Pediatrics - Children’s Hospital of Wuhan, Wuhan, China


Pediatrics - Union Hospital of Tongji Medical College, HUST, Wuhan, China


Medical Genetics - University of Pennsylvania Medical School/Children’s Hospital of Philadelphia, Philadelphia, PA
Hematology/Oncology - Union Hospital of Tongji Medical College, HUST, Wuhan, China

Board Certification

Clinical Cytogenetics and Genomics – American Board of Medical Genetics and Genomics

Graduate Degree

MS in Medical Genetics and Hematology - Tongji Medical College, HUST, Wuhan, China

Titles and Academic Titles

Vice Chief, Division of Genomic Diagnostics

Director, Cancer Genomics

Professor of Clinical Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania

Departments and Services

Areas of Focus

Laboratories & Research Programs

Research Topics




Carolyn A. Felix, Diana J. Slater, James W. Davenport, Xiang Yu, Brian D. Gregory, Marilyn M. Li, Eric F. Rappaport, Nai-Kong V. Cheung. KMT2A-MAML2 Rearrangement Emerged and Regressed During Neuroblastoma Therapy without Leukemia After 12.8-Year Follow-up. Pediatric Blood & Cancer. Arch Pathol Lab Med. 2022 Jan 3.

Frido Bruehl MD, Annette S. Kim MD, PhD, Marilyn M. Li MD, Neal I. Lindeman, MD, Joel T. Moncur, MD, PhD, Rhona J. Souers MS, Patricia Vasalos, BS, Karl V. Voelkerding, MD, Rena R. Xian MD, Lea F. Surrey MD. Tiered Somatic Variant Classification Adoption has Increased Worldwide with Some Practice Differences Based on Location and Institutional Setting A Study from the College of American Pathologists Molecular Oncology Committee. Arch Pathol Lab Med. Jan 2022.

Aime T. Franco, PhD, Julio C Ricarte-Filho, PhD, Amber Isaza, Zachary Jones, Neil Jain, Sogol Mostoufi-Moab, MD, MSCE, Lea Surrey, MD, Theodore W. Laetsch, MD, Marilyn M. Li, MD, Jessica Clague DeHart, PhD, Erin Reichenberger, PhD, Deanne Taylor, PhD, Ken Kazahaya, MD, N. Scott Adzick, MD, and Andrew J. Bauer, MD. Fusion-Oncogenes Are Associated With Increased Metastatic Capacity and Persistent Disease in Pediatric Thyroid Cancers. J Clin Oncol. 2022 Jan 11;JCO2101861. doi: 10.1200/JCO.21.01861.

Alex H. Wagner, Yassmine Akkari, Marilyn Li, Angshumoy Roy, Karen Tsuchiya, and Gordana Raca. Recommendations for future extensions to the HGNC gene fusion nomenclature. Leukemia volume 35, pages3611–3612. 2022 Jan;36(1):299-300. doi: 10.1038/s41375-021-01493-x.

Feng Xu, Erfan Aref-Eshghi, Jinhua Wu, Jeffrey Schubert, Gerald Wertheim, Tricia Bhatti, Jennifer Pogoriler, Maha Patel, Kajia Cao, Ariel Long, Zhiqian Fan, Elizabeth Denenberg, Elizabeth Fanning, Donna Wilmoth, Minjie Luo, Laura Conlin, Aleksandra Sarah Dain, Sarah Baldino, Kristin Zelley, Naomi J Balamuth, Suzanne Macfarland, Marilyn M Li, Yiming Zhong. A Novel TP53 Tandem Duplication in a Child with Li-Fraumeni Syndrome. Cold Spring Harb Mol Case Stud. 2022 Mar 1;mcs.a006181. doi: 10.1101/mcs.a006181.

Chelsea Kotch, Michael J Fisher, Fumin Lin, Yiming Zhong, Dan Gallo, Zhiqian Fan, Jiani Chen, Mariarita Santi, Marilyn M Li. Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis. Cancer Genetics Volumes 262–263, April 2022, Pages 1-4

Peter Horak, Malachi Griffith, Arpad M.Danos, Beth A. Pitel, Subha Madhavan, Maryilyn M. Li, et al. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genetics in Medicine Jan 2022.

Quan Li, Zilin Ren, Kajia Cao, Marilyn M. Li, Kai Wang, Yunyun Zhou. CancerVar: an Artificial Intelligence empowered platform for clinical interpretation of somatic mutations in cancer. bioRxiv preprint doi:

Marilyn M. Li, MD, Ahmad Abou Tayoun, PhD, Marina DiStefano, PhD, Arti Pandya, MD, Heidi L. Rehm, PhD, Nathaniel H. Robin, MD, Amanda M. Schaefer, MS, LGC, Christine Yoshinaga-Itano, PhD; on behalf of the ACMG Professional Practice and Guidelines Committee. Clinical evaluation and etiologic diagnosis of hearing loss: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2022 (in press).


Yiming Zhong, Feng Xu, Jinhua Wu, Jeffrey Schubert, and Marilyn M. Li. : Application of Next Generation Sequencing in Laboratory Medicine. Annals of Laboratory Medicine. 41(1): 25-43, Jan 2021 Notes: doi: 10.3343/alm.2021.41.1.25. Epub 2020 Aug 25.

Emilie Lalonde, Stefan Rentas, Gerald Wertheim, Kajia Cao, Lea F. Surrey, Fumin Lin, Xiaonan Zhao, Amrom Obstfeld, Richard Aplenc, Minjie Luo, and Marilyn M. Li. Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia–related malignancies. Cold Spring Harb Mol Case Stud. 2021 Apr;7:a00597

Yiming Zhong#, Fumin Lin#, Feng Xu, Jeff Schubert, Jinhua Wu, Luanne Wainwright, Xiaonan Zhao, Kajia Cao, Zhiqian Fan, Jiani Chen, Shih-Shan Lang, Benjamin C. Kennedy, Angela N. Viaene, Mariarita Santi, Adam C. Resnick, Phillip B. Storm*, Marilyn M. Li*. Genomic Characterization of a PPP1CB-ALK Fusion with Fusion Gene Amplification in a Congenital Glioblastoma. Cancer Genet. 2021 Apr;252-253:37-42. doi: 10.1016/j.cancergen.2020.12.005.

Allison Cushman-Vokoun, Josh Lauring (ASCO), John Pfeifer, Damon Olson, Anna Berry, John Thorson, Karl Volkerding, Jonathan Myles, James Barbeau, Pranil Chandra (AMP), Marilyn Li (ACMG), Gail H. Vance1, Brad W. Jensen, Molly Y. Hansen, Sophia Yohe.: Laboratory and clinical implications of incidental germline findings during tumor testing. Arch Pathol Lab Med. 2021 Mar 26.

Alexander M Strait, Julia A Bridge, Anthony J Iafrate, Marilyn M Li, Feng Xu, Gregory J Tsongalis, Konstantinos Linos. Mammary-type Myofibroblastoma with Leiomyomatous Differentiation: A Rare Variant with Potential Pitfalls. Int J Surg Pathol. 2021 Aug 2;10668969211031309. doi:10.1177/10668969211031309. Online ahead of print.

Erfan Aref-Eshghi, Fumin Lin, Marilyn M Li, Yiming Zhong. The oncogenic roles of NTRK fusions and methods of molecular diagnosis. Cancer Genet. 2021 Nov;258-259:110-119. doi: 10.1016/j.cancergen.2021.10.005. Epub 2021 Oct 18.

Karen L Bride, Hai Hu, Anastasia Tikhonova, Tori J Fuller, Tiffaney L Vincent, Rawan Shraim, Marilyn M Li, William L Carroll, Elizabeth A Raetz, Iannis Aifantis, David T Teachey. Rational drug combinations with CDK4/6 inhibitors in acute lymphoblastic Leukemia. Haematologica. 2021 Dec 23. doi: 10.3324/haematol.2021.279410. Online ahead of print.


Chao Wu, Xiaonan Zhao, Mark Welsh, Kellianne Costello, Kajia Cao, Ahmad Abou Tayoun, Marilyn Li, and Mahdi Sarmady: Using Machine Learning to Identify True Somatic Variants from Next- Generation Sequencing.  Clinical Chemistry 66(1), January 2020.

Gerber DE, Camidge DR, Morgensztern D, Cetnar J, Kelly RJ, Ramalingam SS, Spigel DR, Jeong W, Scaglioni PP, Zhang S, Li M, Weaver DT, Vaikus L, Keegan M, Horobin JC, Burns TF: Phase 2 study of the focal adhesion kinase inhibitor defactinib (VS-6063) in previously treated advanced KRAS mutant non-small cell lung cancer. Lung Cancer 139: 60-67, January 2020.

Neill Stewart G., Hauenstein Jennifer, Li Marilyn M., Liu Yajuan, Luo Minjie, Saxe Debra F., and Ligon Azra H.: Copy number assessment in the genomic analysis of CNS neoplasia: An evidence-based review from the cancer genomics consortium (CGC) working group on primary CNS tumors. Cancer Genetics 243: 19-47, Feb 2020.

Scott Ryall, Michal Zapotocky, Kohei Fukuoka, Liana Nobre, Ana Guerreiro Stucklin, Maryilyn M. Li, et al. Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas. Cancer Cell 2020 Apr 13;37(4):569-583.e5. doi: 10.1016/j.ccell.2020.03.011.

Angela N. Viaen1, Cunfeng Pu, Arie Perry, Marilyn M. Li, Minjie Luo, and Mariarita Santi. Congenital Tumors of the Central Nervous System: an institutional review of 64 tumors with emphasis on tumors with unique histologic and molecular characteristics. Brain Pathology July 17, 2020.

Jacquelyn Powers, Emilia M. Pinto, Thibaut Barnoud, Jessica C. Leung, Tetyana Martynyuk, Andrew V. Kossenkov, Aaron H. Phillips, Heena Desai, Ryan Hausler, Gregory Kelly, Anh N. Le, Marilyn M. Li, Suzanne P. MacFarland, Louise C. Pyle, Kristin Zelley, Katherine L. Nathanson, Susan M. Domchek, Thomas P. Slavin, Jeffrey N. Weitzel, Jill E. Stopfer, Judy E. Garber, Vijai Joseph, Kenneth Offit, Jill S. Dolinsky, Stephanie Gutierrez, Kelly McGoldrick, Fergus J. Couch, Brooke Levin, Morris C. Edelman, Carolyn Fein Levy, Sheri L. Spunt, Richard W. Kriwacki, Gerard P. Zambetti, Raul C. Ribeiro, Maureen E. Murphy and Kara N. Maxwell. A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers. Cancer Research July 16, 2020. DOI: 10.1158/0008-5472.CAN-20-1390

Marilyn M. Li*, Elizabeth Chao, Edward D. Esplin, David T. Miller, Katherine L. Nathanson, Sharon E. Plon, Maren T. Scheuner, and Douglas R. Stewart.: Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics (ACMG). Genetics in Medicine. Genetics in Medicine. 22(7):1142-1148, Jul;2020 preprint

Stefan Rentas, Vinodh Pillai, Gerald B Wertheim, Gozde T Akgumus, Nichols, Kim E., Matthew A Deardorff, Laura K Conlin, Marilyn Li, Timothy S Olson, Minjie Luo. Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. Cancer Genet. 245:42-48, July 2020.

Yiming Zhong, Jeffery Schubert, Jinhua Wu, Feng Xu, Fumin Lin, Kajia Cao, Kristin Zelley, Minjie Luo, Jessica Foster, Kristina A Cole, Suzanne Macfarland, Adam C Resnick, Phillip B Storm and Marilyn M Li. A Germline PALB2 Pathogenic Variant identified in a Pediatric High Grade Glioma. Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):a005397. doi: 10.1101/mcs.a005397.

Francesca Petralia, Nicole Tignor, Boris Reva, Mateusz Koptyra, Shrabanti Chowdhury, Maryilyn M. Li, et al. Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer. Cell. 2020 Dec 23;183(7):1962-1985.e31. doi: 10.1016/j.cell.2020.10.044.

Hou-Sung Jung, Fumin Lin, Adam Wolpaw, Anne F. Reilly, Elizabeth Margolskee, Minjie Luo, Gerald B. Wertheim and Marilyn M. Li. A Novel KMT2A-ARHGEF12 Fusion Gene Identified in a High-Grade B-cell Lymphoma. Cancer Genetics. 246–247 (2020) 41–43.

Payal Jain, Lea F. Surrey, Joshua Straka, Pierre Russo, Richard Womer, Marilyn M. Li, Phillip B. Storm, Angela Waanders, Michael D. Hogarty, Adam Resnick, Jennifer Picarsic.: Novel BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers. bioRxiv 2020 Notes: preprint doi:

Xiaonan Zhao, PhD; Chelsea Kotch, MD; Elizabeth Fox, MD; Lea F. Surrey, MD; Gerald B. Wertheim, MD, PhD;Zubair W. Baloch, MD, PhD; Fumin Lin, PhD; Vinodh Pillai, MD, PhD; Minjie Luo, PhD; Portia A. Kreiger, MD; Jennifer E. Pogoriler, MD, PhD; Rebecca L. Linn, MD; Pierre A. Russo, MD; Mariarita Santi, MD, PhD; Adam C. Resnick, PhD; Phillip B. Storm, MD, PhD2; Stephen P. Hunger, MD; Andrew J. Bauer, MD; and Marilyn M. Li, MD. NTRK Fusions Identified in Pediatric Tumors:The Frequency, Fusion Partners, and Clinical Outcome. JCO Precis Oncol 5:204-214.

Oscar Lopez-Nunez, Barbara Cafferata, Mariarita Santi, Sarangarajan Ranganathan, Thomas M. Pearce, Scott M. Kulich, Kelly M. Bailey, Alberto Broniscer, Sabrina Rossi, Angelica Zin, MacLean P. Nasrallah, Marilyn M. Li, Yiming Zhong, Evelina Miele, Rita Alaggio, Lea F. Surrey. The spectrum of rare central nervous system (CNS) tumors with EWSR1-non-ETS fusions: Experience from three pediatric institutions with review of the literature. Brain Pathol. 2021 Jan;31(1):70-83. doi: 10.1111/bpa.12900. Epub 2020 Nov 6.


López GY, Perry A, Harding B, Li MM, and Santi M.: CDKN2A/B Loss is Associated with Anaplastic Transformation in a Case of NTRK2 Fusion-positive Pilocytic Astrocytoma. Neuropathol Appl Neurobiol 45(2): 174-178, Feb 2019.

Lea F. Surrey and Suzanne P. MacFarland, Fengqi Chang, Kajia Cao, Komal S. Rathi, Gozde T. Akgumus, Daniel Gallo, Fumin Lin, Adam Gleason, Pichai Raman, Richard Aplenc, Rochelle Bagatell, Jane Minturn, Yael Mosse, Mariarita Santi, Sarah K. Tasian, Angela J. Waanders, Mahdi Sarmady, John M. Maris, Stephen P. Hunger, Marilyn M. Li: Clinical Utility of Custom-designed NGS Panel Testing in Pediatric Tumors. Genome Medicine  11(1): 32, May 2019.

Archana Shenoy, Lea F. Surrey, Payal Jain, Joshua Straka, Adam C. Resnick, Angela J. Waanders, Minjie Luo, Marilyn Li, John Wojcik and Jennifer Pogoriler: Sclerosing Epithelioid Fibrosarcoma of the Bone With Rare EWSR1-CREB3L3 Translocation Driving Upregulation of the PI3K/mTOR Signaling Pathway. Pediatr Dev Pathol Jul 2019.

Max M. He, Quan Li, Muqing Yan, Hui Cao, Yue Hu, Karen Y. He, Kajia Cao, Marilyn M. Li and Kai Wang.: Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants. Genome Medicine 11(53), Aug 2019.

Chang F*, Lin F*, Cao K, Surrey LF, Aplenc R, Bagatell R, Santi M, Storm PB, Tasian SK, Waanders AJ, Hunger SP, Li MM: Development and clinical validation of a large fusion gene panel for pediatric cancers. J Mol Diagn  21(5), Sept 2019.

Jinhua Wu, Jeffrey Schubert, Xiaonan Zhao, Elizabeth Fanning, Zhiqian Fan, Lisa Sutton, and Marilyn M. Li.: Identification of a single exon deletion using NGS in a patient with Perlman syndrome. AMP case report in CAP TODAY December 2019.

Lea F. Surrey, Payal Jain, Bo Zhang, Joshua Straka, Xiaonan Zhao, Brian Harding, Adam C. Resnick, Phillip B. Storm, Anna Maria Buccoliero, Lorenzo Genitori, Marilyn M. Li, Angela J. Waanders, and Mariarita Santi.: Genomic Analysis of Dysembryoplastic Neuroepithelial Tumor Spectrum Reveals a Diversity of Molecular Alterations Dysregulating the MAPK and PI3K/mTOR Pathways. J Neuropathol Exp Neurol 78(12): 1100-1111, December 2019.

Suzanne P. MacFarland, Kristin Zelley, Lea F Surrey, Daniel Gallo, Minjie Luo, Pichai Raman, Gerald Wertheim, Stephen P. Hunger, Marilyn Li* and Garrett M. Brodeur*: Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition. JCO Precision Oncology December 2019 Notes: DOI: 10.1200/PO.19.00062.


Ding Yang Y, Stern Julie W, Jubelirer Tracey F, Wertheim Gerald B, Li Fumin, Chang Fengqi, Gu Zhaohui, Mullighan Charles G, Li Yong, Harvey Richard C, Chen I-Ming, Willman Cheryl L, Hunger Stephen P, Li Marilyn M, Tasian Sarah K: Clinical efficacy of ruxolitinib and chemotherapy in a child with Philadelphia chromosome-like acute lymphoblastic leukemia with GOLGA5-JAK2 fusion and induction failure. Haematologica May 2018.

Jain Payal, Surrey Lea F, Straka Joshua, Luo Minjie, Lin Fumin, Harding Brian, Resnick Adam C, Storm Phillip B, Buccoliero Anna Maria, Santi Mariarita, Li Marilyn M, Waanders Angela J: Novel FGFR2-INA fusion identified in two low-grade mixed neuronal-glial tumors drives oncogenesis via MAPK and PI3K/mTOR pathway activation. Acta neuropathologica May 2018.

M. Luo, F. Lin, G. Akgumus, D. Gallo, X. Zhao, H. Jung, J. Tang, E. Romasko, L. Conlin, G. Wertheim, L. Surrey, M. Li.: Experience with germline confirmation for TP53 variants identified by tumor-only sequencing in pediatric cohorts. Platform presentation at ASHG Annual Meeting, San Diego, CA, October 16, 2018 October 2018.

Angela N. Viaene, Mariarita Santi, Jason Rosenbaum, Marilyn M. Li, Lea F. Surrey, and MacLean P. Nasrallah: SETD2 mutations in primary central nervous system tumors. Acta Neuropathol Commun 6(1): 123, Nov 2018.

Venakatesh AG, Mathew JJ, Coleman S, Liu GL, Li MM, Green MS, Liu H: Effects of Milrinone on Inflammatory Response-Related Gene Expressions in Cultured Rat Cardiomyocyte. Journal of Biomedical Research 2018.


Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN: Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint  Consensus Recommendation of the Association for Molecular Pathology. J Mol Diagn 19(1): 4-23, Jan 2017.

Chen S, Liu GL, Li MM, Liu R, Liu H: Effects of Epinephrine on Inflammation-Related Gene Expressions in Cultured Rat Cardiomyocytes. Transl Perioper Pain Med 2(1): 13-19, Feb 2017.

Tasian SK, Hurtz C, Wertheim GB, Bailey NG, Lim MS, Harvey RC, Chen IM, Willman CL, Astles R, Zebrowski A, Reshmi SC, Li MM, Frey NV, Luger SM, Carroll M, Perl AE: High incidence of Philadelphia chromosome-like acute lymphoblastic leukemia in older adults with B-ALL. Leukemia 31(4): 981-984, April 2017.

Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li, Marilyn M. Li: Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-designed Next Generation Sequencing Panel. J Mol Diagn 19(4): 613-624, July 2017.

Gozde Akgumus, Fengqi Chang, Marilyn M. Li: Overgrowth Syndromes Caused by Somatic Variants in PI3K/AKT/mTOR Pathway.  J Mol Diagn.  19(4): 487-497, July 2017.

Mothaffar F. Rimawi, Carmine De Angelis, Alejandro Contreras, Fresia Pareja, Felipe C. Geyer, Kathleen A. Burke, Sabrina Herrera, Tao Wang, Ingrid A Mayer, Andres Forero, Rita Nanda, Matthew P. Goetz, Jenny C. Chang, Ian E. Krop, Antonio C. Wolff, Anne C. Pavlick, Suzanne A. W. Fuqua, Carolina Gutierrez, Susan G. Hilsenbeck, Marilyn M. Li, Britta Weigelt, Jorge S. Reis-Filho, C. Kent Osborne, and Rachel Schiff.: Low PTEN Levels and PIK3CA Mutations Predict Resistance to Neoadjuvant Lapatinib and Trastuzumab without Chemotherapy in Patients with HER2 Over-Expressing Breast Cancer. Breast Cancer Research and Treatment Nov 2017.

Emilie Lalonde, Gerald Wertheim, Marilyn M. Li. : Clinical Impact of Genomic Information in Pediatric Leukemia.  Frontiers in Pediatrics.  December 2017.


Liu H, Sangkum L, Liu G, Green M, Li M, Kaye A: Effects of Epinephrine on Angiogenesis-related Gene Expressions in Cultured Rat Cardiomyocytes. Journal of Biomedical Research 5: 380-385, Sep 2016.

Surrey LF, Luo M, Chang F, Li MM: The Genomic Era of Clinical Oncology: Integrated Genomic Analysis for Precision Cancer Care. Cytogenet Genome Res Page: 22, Dec 2016.

Tasian SK, Hurtz C, Wertheim GB, Bailey NG, Lim MS, Harvey RC, Chen IM, Willman CL, Astles R, Zebrowski A, Reshmi SC, Li MM, Frey NV, Luger SM, Carroll M, Perl AE: Leukemia. [Epub ahead of print] Dec 2016.

W. Shu, Q. Zhou, H. Zhang, M.M. Li, C. Yu, J. Yu, M. Qi, L. Bao, B. Lin, and P. Li: Medical Genetics Training System in North America and Its Impact to Healthcare.  Chin J Med Genet 33(3): 196-401, 2016.


M. M. Li, M. R. Rossi, J. A. Biegel, M. J. Dougherty, G. Doho, J. J. Laffin, B. Levy, P. Miron, F. A. Monzon, G. Toruner, D. Streck, J. M. Hagenkord, I. Znoyko, K. Alvarez, X. Hu, V. Jobanputra, S. Kash, D. J. Wolff. A multi-center, cross-platform clinical validation study of cancer cytogenomic arrays. Cancer Genet. 2015 Nov;208(11):525-36.

Schmit JM, Turner DJ, Hromas RA, Wingard JR, Brown RA, Li Y, Li MM, Slayton WB, Cogle CR. Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome. Leuk Res Rep. 2015 Apr 3;4(1):24-7.

P. Niravath, T. Eble, A. Contreras, L. Franco, M. M. Li, M. F. Rimawi. Breast adenocarcinoma recurring as small cell carcinoma in a patient with a germline BRCA2 mutation: Clonal evolution unchecked. Experimental Hematology & Oncology 2015 4:1.

Yuwen Li, Jiao Liu, Wencheng Li, Aaron Brown, Melody Baddoo, Marilyn Li, Thomas Carroll, Leif Oxburgh, Yumei Feng, and Zubaida Saifudeen. p53 Enables Metabolic Fitness and Self-Renewal of Nephron Progenitor Cells. Development. 2015 Apr 1;142(7):1228-41. doi: 10.1242/dev.111617.


Joshua R Kapp, Tim Diss, Michael Gandy, James Spicer, Iris Schrijver, Lawrence J Jennings, Marilyn Li, Gregory J Tsongalis, David Gonzalez de Castro, Julia Bridge, Andrew Wallace, Sandra Hing, Joshua Deignan, Rachel Butler, Eldo Verghese, Gary J Latham, Rifat A Hamoudi. Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial. J Clin Pathol. 2015 Feb;68(2):111-8. doi: 10.1136/jclinpath-2014-202644. Epub 2014 Nov 27.

Jardim DL, Tang C, Gagliato Dde M, Falchook GS, Hess K, Janku F, Fu S, Wheler JJ, Zinner RG, Naing A, Tsimberidou AM, Holla V, Li MM, Roy-Chowdhuri S, Luthra R, Salgia R, Kurzrock R, Meric-Bernstam F, Hong DS. Analysis of 1,115 patients tested for MET amplification and therapy response in the MD Anderson Phase I Clinic. Clin Cancer Res. 2014 Dec 15;20(24):6336-45.

L. T. Emrick, L. Murphy, A. A. Shamshirsaz, R. Ruano, C. I. Cassady, L. Liu, F. Chang, V. R. Sutton, M. M. Li, I. B. V. D. Veyver. Prenatal Diagnosis of CLOVES Syndrome confirmed by detection of a mosaic PIK3CA mutation. Am J Med Genet. 2014 Oct;164(10):2633-7

Kudesia R, Li M, Smith J, Patel A, Williams Z. Rescue karyotyping: a case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue. Reprod Biol Endocrinol. 2014 Mar 3;12:19. doi: 10.1186/1477-7827-12-19.


Ledet Elisa M, Hu Xiaofeng, Sartor Oliver, Rayford Walter, Li Marilyn, Mandal Diptasri: Characterization of germline copy number variation in high-risk African American families with prostate cancer. The Prostate 73(6): 614-23, May 2013.

Cooley Linda D, Lebo Matthew, Li Marilyn M, Slovak Marilyn L, Wolff Daynna J: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders. Genetics in medicine : official journal of the American College of Medical Genetics 15(6): 484-94, Jun 2013.

Linda D. Cooley, MD, MBA, Matthew Lebo, PhD, Marilyn M. Li, MD, Marilyn L. Slovak, PhD, and Daynna J. Wolff, PhD. : A Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders. Genet Med 15(6): 484-94, June 2013.

Chang Fengqi, Li Marilyn M: Clinical application of amplicon-based next-generation sequencing in cancer. Cancer genetics 206(12): 413-9, Dec 2013.

Marilyn M. Li, April A. Ewton, Janice L. Smith.: Using Cytogenetic Rearrangements for Cancer Prognosis and Treatment (Pharmacogenetics). Curr Genet Med Rep 1: 99-112, 2013.


McGowan Paul, Nelles Nicole, Wimmer Jana, Williams Dawn, Wen Jianguo, Li Marilyn, Ewton April, Curry Choladda, Zu Youli, Sheehan Andrea, Chang Chung-Che Jeff: Differentiating between Burkitt lymphoma and CD10+ diffuse large B-cell lymphoma: the role of commonly used flow cytometry cell markers and the application of a multiparameter scoring system. American journal of clinical pathology 137(4): 665-70, Apr 2012.

Cao Hongbao, Deng Hong-Wen, Li Marilyn, Wang Yu-Ping: Classification of multicolor fluorescence in situ hybridization (M-FISH) images with sparse representation. IEEE transactions on nanobioscience 11(2): 111-8, Jun 2012.


Xiang Bixia, Zhu Hongbo, Shen Yiping, Miller David T, Lu Kangmo, Hu Xiaofeng, Andersson Hans C, Narumanchi Tarachandra M, Wang Yueying, Martinez Jose E, Wu Bai-Lin, Li Peining, Li Marilyn M, Chen Tian-Jian, Fan Yao-Shan: Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. The Journal of molecular diagnostics : JMD 12(2): 204-12, Mar 2010.


Freeman Christopher E, Mercer Danielle D, Ye Yi, Van Brunt John, Li Marilyn M: Cytogenetic and molecular characterization of complex three-way translocations in acute promyelocytic leukemia. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 41(4): 477-9, Aug 2009.

Li Marilyn M, Andersson Hans C: Clinical application of microarray-based molecular cytogenetics: an emerging new era of genomic medicine. The Journal of pediatrics 155(3): 311-7, Sep 2009.


Li Marilyn M, Nimmakayalu Manjunath A, Mercer Danielle, Andersson Hans C, Emanuel Beverly S: Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays. American journal of medical genetics. Part A 146A(3): 368-75, Feb 2008.

Liu Henry, Kaye Alan, Comarda Neal, Li Marilyn: Paradoxical postural cerebrospinal fluid leak-induced headache: report of two cases. Journal of clinical anesthesia 20(5): 383-5, Aug 2008.


Li Marilyn, Albertson Donna: Human cancer genetics. Journal of Zhejiang University. Science. B 7(2): 164, Feb 2006.

Li Marilyn, Pinkel Daniel: Clinical cytogenetics and molecular cytogenetics. Journal of Zhejiang University. Science. B 7(2): 162-3, Feb 2006.

Techakittiroj C, Kim K C, Andersson H, Li Marilyn M: 9p subtelomere deletion: pathogenic mutation or normal variant? Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 38(1): 92-3, Feb 2006.

C. Techakittiroj, H. Andersson, K. Jackson, C. Dvorak and M.M. Li.: A female infant with hypotonia, developmental delay, transitional hearing loss and 22q13.1 deletion. World J Pediatr 2(4): 245-9, 2006.


Li Marilyn M: Advanced molecular and cytogenetic technologies in birth defect diagnosis and prevention. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 37(1): 14-9, Feb 2005.

Zhong Nanbert, Ju Weina, Moroziewicz Dorota, Wronska Anetta, Li Marilyn, Wisniewski Krystyna, Brooks Susan Sklower, Jenkins Edmund, Brown W Ted: Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 37(1): 20-5, Feb 2005.

Kozon Lukasz K, Wesley Deborah L, Van Brunt John, Li Marilyn M: A novel interstitial deletion on the long arm of chromosome 16 in a patient with chronic myelomonocytic leukemia. Cancer genetics and cytogenetics 162(1): 92-4, Oct 2005.


Pochampally Radhika R, Neville Brian T, Schwarz Emily J, Li Marilyn M, Prockop Darwin J: Rat adult stem cells (marrow stromal cells) engraft and differentiate in chick embryos without evidence of cell fusion. Proceedings of the National Academy of Sciences of the United States of America 101(25): 9282-5, Jun 2004. PMCID: PMC438968


Jiang Guanchao, Yang Fan, Li Marilyn, Weissbecker Karen, Price Sherrie, Kim K C, La Russa Vincent F, Safah Hana, Ehrlich Melanie: Imatinib (ST1571) provides only limited selectivity for CML cells and treatment might be complicated by silent BCR-ABL genes. Cancer biology & therapy 2(1): 103-8, Jan-Feb 2003.


Rivera Ada I, Li Marilyn M, Beltran German, Krause John R: Trisomy 4 as the sole cytogenetic abnormality in a Waldenström macroglobulinemia. Cancer genetics and cytogenetics 133(2): 172-3, Mar 2002.


M.M. Li: Uniparental Disomy and Human Genetic Disorders. Chine J Pract Pediat 15(2): 83-85, 2000.

M.M. Li, P.N. Howard-Peebles, L.D. Killos, W.S. Stanley.: Molecular Characterization of Chromosome Markers Identified at Prenatal Diagnosis and Its Clinical Implication. Prenat Diagn. 20(2): 138-43, 2000.


N.C. Rose, Y.L. Wang, N.B. Roth, M. Li, R.B. Wilson.: An Evaluation of the Factor V Leiden Mutation in a Cohort of African-American pregnant Women. Prenat Diagn.(18), 315-317, 1998.


M. Jaquez, D.A. Driscoll, M. Li, B.S. Emanuel, I Hernandez, F Jaquez, N Lembert, J. Ramirez, R. Matalon.: Unbalanced 15;22 Translocation in a Patient with Manifestations of DiGeorge and Velocardiofacial Syndrome. Am J Med Genet. 70(1): 6-10, 1997.


M. Li, E.H. Zackai, N. Niikawa, P. Kaplan and D.A. Driscoll.: Kabuki Syndrome is not Caused by a Microdeletion in the DiGeorge/Velocardiofacial Chromosome Region Within 22q11.2. Am J Med Genet.(65), 101-103, 1996.


K. Wydner, M. Li, C. Singer-Granick, L. Sciorra and L. Krueger.: X micro chromosome With Additional Chromosome Anomalies Found in Ullrich-Turner Syndrome. Am J Med Genet(56), 141-146, 1995.

M.L. Budarf, B.A Konkle, L.B. Ludlow, D. Michaud, M. Li, D.J. Yamashiro, D. McDonald-McGinn, E.H. Zackai, D.A. Driscoll.: Identification of a Patient with Bernard-Soulier Syndrome and a Deletion in the DiGeorge Velo-cardio-facial Chromosomal Region in 22q11.1. Hum Mol Genet 4(4): 763-766, 1995.


M. Li, A. Yang, H. Fei, S. Liu and M. He.: Fragile Sites and Leukemia. Journal of Tongji Medical University 8(1): 29-34, 1988.


M. Li, A. Yang, H. Fei and S. Liu.: Chromosome Fragile Sites and Leukemia. Heredity and Disease 4(4): 203-207, 1987.

M. Li, and A. Yang.: Low Frequency Positive-pressure Ventilation with Extracorporeal CO2 Removal in Severe Acute Respiratory Failure. JAMACLE. 6(4): 213-218, 1987.




F. Chang, G. L. Liu, C. J. Liu and M. M. Li. Amplification-based Next Generation Sequencing. In S. Kulkarni and J. Pfeifer (Eds) Clinical Genomics – A guide to Clinical Next Generation Sequencing. 2014. San Diego, CA. Elsevier


Marilyn M. Li, Ankita Patel, and Xiaofeng Hu.: Clinical Applications of Microarrays in Cancer. Modern Clinical Molecular Techniques (1st ed). Hu, Peter; Hegde, Madhuri; Lennon, Patrick Alan (eds.). Springer, 2012.

Posters and Presentations


Feng Xu, Erfan Aref-Eshghi, Jinhua Wu, Jeffrey Schubert, Gerald Wertheim, Tricia Bhatti, Jennifer Pogoriler, Maha Patel, Kajia Cao, Ariel Long, Zhiqian Fan, Elizabeth Denenberg, Elizabeth Fanning, Donna Wilmoth, Minjie Luo, Laura Conlin, Aleksandra Sarah Dain, Sarah Baldino, Kristin Zelley, Naomi J Balamuth, Suzanne Macfarland, Marilyn M Li, Yiming Zhong. A Tandem Duplication in TP53 in a Pediatric Patient with Li-Fraumeni Syndrome. 2022 ACMG Annual Meeting. Nashville, TN. March 25, 2022.

Jinhua Wu*, Jeffrey Schubert*, Feng Xu, Ariel Long, Maha Patel, Netta Golenberg, Jiani Chen1, Elizabeth Denenberg, Elizabeth Fanning, Weixuan Fu, Kajia Cao, Rochelle Bagatell, Theodore W. Laetsch, Adam Resnick, Mariarita Santi, Phillip Storm, Minjie Luo, Lea F. Surrey, Yiming Zhong, Marilyn M. Li. The spectrum of FGFR mutations in pediatric and young adult solid tumor. 2022 AACR Annual Meeting. New Orleans, LA. April 10, 2022

Nya D. Nelson, Feng Xu, Marilyn Li, and Jennifer Pogoriler. Morphologic Features in Congenital Pulmonary Airway Malformations and Pulmonary Sequestrations Correlate with KRAS Mutation Status. 2022 Spring SPP Meeting. (Virtual) Mar 18, 2022. 

Angela N. Viaene, Feng Xu, (co-first authors), Kajia Cao, Kenneth Aldape, Drew Pratt, Martha Quezado, Zied Abdullaev, Kristina Cole, Marilyn M. Li, Phillip B. Storm, and Mariarita Santi. Novel ATXN1-NUTM2A fusions identified in two pediatric CNS “CIC-rearranged” sarcomas without CIC rearrangements. AANP 2022 Annual Meeting. Orlando, Florida. June 24, 2022.


Nya D. Nelson, Feng Xu, Leslie Litzky, Marilyn Li, Jennifer Pogoriler. KRAS mutations are comm, only found throughout type 1 congenital pulmonary airway malformations. Platform presentation at SPP Spring Meeting. March 12, 2021 

Chelsea Kotch MD, Michael Fisher MD, Yiming Zhong PhD, Dan Gallo CG, Emily Fan MS, Fumin Lin PhD, Jiani Chen CG, Mariarita Santi MD, and Marilyn Li MD. Atypical Teratoid Rhabdoid Tumor in a Child With Neurofibromatosis Type 2: A Novel Dual Diagnosis. ACMG 2021 Annual Meeting, April 14, 2021.

Yiming Zhong, Jinhua Wu, Fumin Lin, Minjie Luo, Lea Surrey, Jeffrey Schubert, Maha Pate, Feng Xu, Kieran B. Pechter, Kajia Cao, Daniel Gallo, Elizabeth H Denenberg, Elizabeth A Fanning, Jiani Chen, Zhiqian Fan, Suzanne MacFarland, Michele Paessler, Elizabeth Margolskee, Vinodh Pillai, Richard Aplenc, Kathrin M. Bernt, Susan R. Rheingold, Sarah K. Tasian, Stephen Hunger, Gerald Wertheim, Marilyn M. Li. Genomic Characterization of 747 Pediatric Hematological Malignancies. ACMG 2021 Annual Meeting, April 14, 2021.

Alex H Wagner, Ioannis S Vlachos, Dmitriy Sonkin, Panieh Terraf, Chimene Kesserwan, Maryilyn M. Li, et al. A standard operating procedure for the curation of gene fusions. AACR 2021 Annual Meeting, April 10, 2021.

Alex H Wagner, Ioannis S Vlachos, Dmitriy Sonkin, Panieh Terraf, Chimene Kesserwan, Maryilyn M. Li, et al. Multi-consortia initiative to standardize the representation and curation of oncogenic fusions. CGC Annual Meeting, August 3, 2021.

Minjie Luo, Suzanne Macfarland, Kristin Zelley, Fumin Lin, Daniel Gallo, Jinhua Wu, Jeffery Schubert, Elizabeth H Denenberg, Jiani Chen, Elizabeth A Fanning, Gerald B Wertheim, Yiming Zhong, Surrey Lea, Garrett M Brodeur, Marilyn M Li. Identification of TP53 germline variants in pediatric patients undergoing tumor testing. CGC Annual Meeting, August 3, 2021. 

Alison M Muir, Zhiqian E Fan, Kajia Cao, Fumin Lin, Minjie Luo, Yiming Zhong, Lea Surrey, Gerald Wertheim, Jefferey Schubert, Jinhua u1, Elizabeth A Fanning, Jiani Chen, Elizabeth H Denenberg, Susan R Rheingold, Suzanne P MacFarland, Sarah K Tasian, Stephen P Hunger, Marilyn M Li. NUDT15 Variants Associated with Thiopurine Toxicity in 1,643 Pediatric Leukemia Patients. 2021 ASHG Annual Meeting. (Virtual)

Feng Xu, Kajia Cao, Fumin Lin, Mark Welsh, Ariel Long, Jinhua Wu, Jeffery Schubert, Jiani Chen, Elizabeth Fanning, Zhiqian E. Fan, Adam C. Resnick, Phillip B. Storm, Marilyn M. Li. Translating Transcriptome Sequencing into Clinical Diagnostics for Pediatric Solid Tumors. AMP Annual Meeting 2021. November 18, 2021.


Feng Xu, Kajia Cao, Fumin Lin, Mark T. Welsh, Zhiqian E. Fan, Ariel Long, Mahdi Sarmady, Adam C. Resnick, Phillip B. Storm, Marilyn M. Li: Development and Clinical Validation of RNA-Sequencing in Pediatric Tumors. Platform presentation at ACMG Annual Meeting, San Antonio, TX. March 20, 2020 March 2020.

Nya D. Nelson, Feng Xu, Marilyn Li, Jennifer Pogoriler: Distinct mucinous cell clusters in type I congenital pulmonary airway malformations carry clonal KRAS mutations. Platform Presentation at Society of Pediatric Pathology Spring Meeting. Los Angeles, CA. March 1, 2020 March 2020.

Yiming Zhong, Minjie Luo, Kristin Zelley, Suzanne MacFarland, Adam Resnick, Phillip Storm, Marilyn Li: A Germline PALB2 Pathogenic Variant identified in a Pediatric High Grade Glioma. ACMG Annual Meeting, San Antonio, TX. March 18, 2020 March 2020.

Jung HS, Lin F, Wolpaw A, Reilly AF, Luo M, Wertheim GB, Li MM: A novel KMT2A-ARHGEF12 fusion gene identified in a Burkitt-like lymphoma. American Cytogenomics Conference, Hilton Head, SC May 2020

Xiaonan Zhao, Jeff Schubert, Jinhua Wu, Fumin Lin, Gerald Wertheim, Lea F Surrey, Minjie Luo, Yiming Zhong, Chao Wu, Kajia Cao, Richard Aplenc, Rochelle Bagatell, Yael P Mosse, Timothy S. Olson, Mariarita Santi, Sarah K Tasian, Phillip Storm, John M Maris, Stephen Hunger, Marilyn M Li. Clinical significance of serial tumor next generation sequencing (NGS) in 155 pediatric cancer patients. ASCO Annual Meeting, May 29, 2020

Patrick A. Lennon, Gordana Raca, Min Fang, Daynna J. Wolff, Marilyn M. Li, Anwar Iqbal, Brynn Levy, Stuart Schwartz. Whole Genome SNP Arrays for Best Practice for Detection of Diagnostic, Prognostic and Therapy Related Copy Number Changes and Copy Neutral-Loss of Heterozygosity Across Solid Tumors and Hematologic Malignancies. ASCO Annual Meeting May 29, 2020.

Fumin Lin, Yiming Zhong, Feng Xu, Jeff Schubert, Jinhua Wu, Xiaonan Zhao, Luanne Wainwright, Kajia Cao, Zhiqian Fan, Angela Viaene, Mariarita Santi, Adam Resnick, Phillip Storm, Marilyn M Li. When amplification meets gene fusion: molecular characterization of PPP1CB-ALK fusion and amplification in pediatric high grade glioma. CGC Annual Meeting, August 4, 2020.

Jinhua Wu, Jeffrey Schubert, Feng Xu, Xiaonan Zhao, Kajia Cao, Fumin Lin, Minjie Luo, Portia A. Kreiger, Tricia R. Bhatti, Mariarita Santi, Lea F. Surrey, Yiming Zhong, Marilyn M. Li. Characterization of BCOR ITD in Pediatric Solid Tumors Using Targeted NGS Panel and Whole Transcriptome Sequencing. Platform presentation at CGC Annual Meeting, August 4, 2020.

Minjie Luo, Lea Surrey, Yiming Zhong, Daniel Gallo, Elizabeth Denenberg, Elizabeth A Fanning, Xiaonan Zhao, Jinhua Wu, Jeffrey Schubert, Kristin Zelley, Peter Kurre, Michele Paessler, Joseph H Oved, Helge Hartung, Michele Lambert, Tim Olson, and Marilyn Li. Genetic diagnosis of Bone Marrow Failure Syndromes: strategies, yields, and challenges. CGC Annual Meeting, August 4, 2020.

Shruti Rao, Deborah Ritter, Arpad Danos, Gordana Raca, Angshumoy Roy, Maryilyn M. Li, et al., on behalf of The Clinical Genome Resource Somatic Cancer Working Group. ClinGen Somatic Cancer Variant Curation Expert Panels: Enhancing standardized interpretation and utilization of cancer genetic data for clinical application. CGC Annual Meeting, August 4, 2020.

Shruti Rao, Deborah Ritter, Arpad Danos, Gordana Raca, Angshumoy Roy, Maryilyn M. Li, et al., on behalf of The Clinical Genome Resource Somatic Cancer Working Group.: ClinGen Somatic Cancer Working Group - Disseminating Standardized Cancer Molecular Diagnostic Data and evidence through Global Collaboration and Expert Curation. AACR 2020 Annual Meeting. (Virtual Meeting). August 2020.

Kristin Zelley, Michael S. Leibowitz, Suzanne P. MacFarland, Sarah E. Jennings, Elizabeth Fox, Marilyn M. Li, Yiming Zhong, Daniel Gallo, Jennifer Pogoriler, Peter Mattei. Neuroblastoma and Cutaneous Angiosarcoma in a Child with PTEN Hamartoma Tumor Syndrome. NSGC 39th Annual meeting. September 30, 2020.

Sarah E. Jennings, Kristin Zelley, Elizabeth Fanning, Naomi J Balamuth, Tricia Bhatti, Daniel Gallo, Minjie Luo, Anna Sechser Perl, Jacquelyn Powers, Lea F Surrey, Yiming Zhong, Marilyn M Li, Kara N Maxwell, Suzanne P MacFarland. De novo TP53 variant in a child with early onset rhabdomyosarcoma and maternal history of gestational choriocarcinoma. NSGC 39th Annual meeting. September 30, 2020.

Kareem Hosny; Jessenia C. Guerrero; Susan E. McClory; Suzanne MacFarland; Rochelle Bagatell; Naomi Balamuth; Kristopher Bosse; Michael Hogarty; Feng Xu; Fumin Lin; Jeff Schubert, Jinhua Wu; Kajia Cao; Yiming Zhong; Minjie Luo; Jiani Chen, Marilyn Li; Elizabeth Margolskee; Laura S. Finn; Eduardo Ruchelli; Gerald Wertheim; Portia Kreiger. Congenital undifferentiated round cell sarcoma with novel ATXN1L-NUTM2A fusion. SPP Annual Meeting 2020, October 22, 2020.

Fumin Lin, Lea Surrey, Kristin Zelley, Minjie Luo, Yiming Zhong, Michael Hogarty, Garrett Brodeur, Jeffery Schubert, Jinhua Wu, Kajia Cao, Zhiqian Fan, Suzanne Macfarland, Rochelle Bagatell, Marilyn Li. Genomic Profiling Uncovers Mutation Signatures That Differentiate Pediatric Rhabdomyosarcoma (RMS) Subgroups and Predict Clinical Outcomes. Platform presentation at AMP Annual Meeting 2020, November 18, 2020.

Hou-Sung Jung, Rochelle Bagatell, Yiming Zhong, Minjie Luo, Michael D Hogarty, Marilyn M Li, and Lea F Surrey. Genomic Test Utilization for Neuroblastoma Risk Classification: A Quality Improvement Project. AMP Annual Meeting 2020, November 18, 2020

Jeffrey Schubert, Jinhua Wu, Yiming Zhong, Gerald Wertheim, Lea Surrey, Minjie Luo, Fumin Lin, Xiaonan Zhao, Kajia Cao, Richard Aplenc, Sarah Tasian, Stephen Hunger, Susan Rheingold, Marilyn Li. Clinical and genetic risk factors associated with relapse of hyperdiploid B-ALL: a single institution review 2001-2019. AMP Annual Meeting 2020, November 18, 2020.

Mary Jane Lim-Fat, Jayne Vogelzang, Eleanor Woodward, Alana McGovern, C. Ma, Hasan Al-Sayegh, Sanda Alexandrescu, A. Margol, J. Cotter, K. Cole, M. Li, Emily A. Owens, A. Smith, S. Goldman, Kristiyana Kaneva, E. Burton, Kellie J. Nazemi, Karen Wright, P. Wen, K. Warren, M. Touat, D. Reardon, W. Bi, K. Ligon, K. K. Yeo. A Multi-Institutional Comparative Analysis of The Clinical, Genomic, and Survival Characteristics of Pediatric, Young Adult and Older Adult Patients With IDH-Mutant Glioma. SNO 2020 Annual Meeting, November 21, 2020.

Lectures by Invitation

Li MM. An Integrated Multi-Omics Approach for Precision Cancer Care. Personalized Pediatric Cancer Care Summit. Philadelphia, PA. March 11, 2022.


Li MM. Precision Oncology through MultiOmics-based Approaches. The The ACGA 2021 Genetics Service Award Lecture (Virtual). Nov 2021.

Li MM. The Advance and Challenges of Genomic Diagnosis: The Clinical Impact in Hematological Malignancies. Invited Speaker at the 2021 Shanghai International Symposium on Oncology & Hematology in the 21st Century. September 18, 2021 (Virtual).

Li MM. The Challenges of Interpreting and Reporting Tumor NGS Results. Invited speaker at The 10th Tumor Molecular Pathology Testing Standardization and Quality Control. Chinese Association of Molecular Pathologists. June 26, 2021 (Virtual)

Li MM. Detection of CNAs in tumor from NGS data: The advantages, limitations, and best practices. CGC Education Conference. January 12, 2021.


Li MM. Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-designed NGS Panel. Invited speaker at North American Pediatric Aplastic Anemia Consortium (NAPAAC) Annual Meeting, October 9, 2020.

Li MM. The Spectrum of NTRK Fusion-associated Pediatric Tumors. GenomeWeb Invited Special Presentation. September 24, 2020.

Li MM. Integrated Genomic Diagnosis for Precision Neuro-oncology. Invited Speaker at PC4C Annual Meeting. September 1, 2020.


Li MM. Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer. ACMG Annual Meeting, March 20, 2019 (Virtual).

Li MM. Molecular Testing Advancements and Hot Topics On The Global Front. AMP Annual Meeting. Baltimore, MD. November 6, 2019.

Li MM. Standards and Guidelines for the Interpretation and Reporting of Somatic Variants in Cancer. FDA/OCE Mini symposium on Mapping FDA's 3 Tiers Reporting System to the Current Reporting of Variants. FDA White Oak, Silver Spring, MD. October 29, 2019.

Li MM. Integration of Genomics and Artificial Intelligence Drives Precision Oncology. Laboratory Medicine Congress & Exhibition & KSLM 60th Annual Meeting. Busan, Korea. September 27, 2019.

Li MM. Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer. European Congress of Pathology. Nice, France. September 9, 2019.

Li MM. Clinical Implementation of the AMP/ASCO/CAP Standards and Guidelines for Somatic Variant Interpretation and Reporting. AMP Global Congress. Hong Kong, China. May 17, 2019.

Li MM. Reporting of Germline Variation in Patients Undergoing Tumor Sequencing: Points To Consider. ACMG Annual Meeting. Seattle, WA April 3, 2019.

Awards and Honors

2021, Excellence in Genetics Service Award by Association of Chinese Geneticists in America
2010, Luminex – ACMGF Award for “Promoting Safe and Effective Genetic Testing and Services”
2006, Recognition of Exceptional Contribution to the Organization of International Congress of Global Chinese Geneticists 2006
2006, Outstanding Service Award in ACGA Activities
1989, State Award for Science and Technology Development for the research project: Chromosomal Fragile Sites and Leukemia
1978-1983, Five time recipient of president award for outstanding students (every year in medical school)

Editorial and Academic Positions

Editorial Positions

2019-present, Nature Cancer
2019-present, Genome Medicine
2017-present, Cancer Genetics, co-Editor
2016-present, Cold Spring Harbor Molecular Case Studies
2005-present, Journal of Molecular Diagnosis
2003-present, Cancer Genetics
2003-present, Applied Immunohistochemistry & Molecular Morphology
2003-present, Pediatrics
2000-present, American Journal of Medical Genetics
2000-present, American Journal of Human Genetics

Academic and Institutional Committees

2021-present, Data Use Committee, Co-chair
2019-present, Committee of Diversity and Inclusion

Leadership and Memberships

Memberships in Professional Organizations


2012-present, Cancer Genomics Consortium, Board Member


2015-present, ClinGen Somatic; ClinGen Germline/somatic
 - 2022-present, Variant Interpretation Working Group, Co-Chair
2010-present, Association of Molecular Pathology
 - 2014-present, ISV (Interpretation of Sequence Variant) in Somatic Conditions (Cancer) Work Group, Chairman
 - 2012-present, Clinical Practice Committee
2001-present, Children's Oncology Group
1993-present, American Society of Human Genetics