Minjie Luo, PhD, FACMG
Locations: Main Building
About Minjie Luo, PhD, FACMG
Titles
Program Director, Laboratory Genetics and Genomics Fellowship Program
Associate Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
Certifications
Clinical Cytogenetics and Genomics – American Board of Medical Genetics and Genomics
Molecular Genetics – American Board of Pathology
Awards and Honors
2016, Top Rated Poster, The American Society of Human Genetics Annual Meeting
2005, Scientific & Technical Development Award of Zhejiang Province (1st Place), Government of Zhejiang Province
2003, Research Achievement Award, The Research Committee in UMDNJ-RWJMS, New Jersey
2002, Gallo Award for Outstanding Cancer Research, Cancer Research in New Jersey
2000, Outstanding Graduate Student for Doctor and Master Degree Recipients of Zhejiang Province
1999, Scientific & Technical Development Award of Zhejiang Province (3rd Place), Government of Zhejiang Province
1999, Certificate of Honor, Health Department of Zhejiang Province
1999, GuangHua Scholarship, Zhejiang University
1998, GuangHua Scholarship, Zhejiang University
1997, Scientific & Technical Development Award of Zhejiang Province (3rd Place), Government of Zhejiang Province
Leadership and Memberships
Memberships in Professional Organizations
2015-present, College of American Pathologists
2015-present, Children's Oncology Group
2015-present, Cancer Genomics Consortium
2012-present, American College of Medical Genetics, Fellow
2003-present, American Society of Human Genetics, Member
Editorial and Academic Positions
Editorial Positions
2019-present, Reviewer, Genetics in Medicine
2019-present, Reviewer, PLOS Genetics
2019-present, Reviewer, Journal of Molecular Diagnostics
2016-present, Reviewer, NPJ Genomic Medicine
2015-present, Reviewer, American Journal of Medical Genetics
2013-present, Reviewer, Cancer Genetics
Academic and Institutional Committees
2020-present, Member, Cancer Genomic Consortium Sarcoma Working Group
2018-present, Member, ClinGen Platelet Disorder Subcommittee
2017-present, Member, ClinGen Myeloid Malignancy Gene/Variant Curation Subcommittee
2017-present, Member, ClinGen VHL Variant Classification Subcommittee
2017-present, Member, ClinGen Germline/Somatic Variant Curation Subcommittee
2017-present, Member, ClinGen Hereditary Hearing Loss Subcommittee
2017-present, Molecular Genetic Pathology, Clinical Competency Committee
Education & training
Graduate Degree
PhD - Zhejiang University, School of Medicine, China
Fellowship
ABMG Fellow Training in Molecular Genetics and Cytogenetics - Mount Sinai School of Medicine, New York, NY
Publications
Publications
2022
Murrell Jill R, Nesbitt Addie May I, Baker Samuel W, Pechter Kieran B, Balciuniene Jorune, Zhao Xiaonan, Denenber Elizabeth H, DeChene Elizabeth T, Wu Chao, Jayaraman Pushkala, Cao Kajia, Gonzalez Michael, Devoto Marcella, Testori Alessandro, Monos John D, Dulik Matthew C, Conlin Laura K, Luo Minjie, Gibson Kristin McDonald, Guan Qiaoning, Sarmady Mahdi, Bhoj Elizabeth, Helbig Ingo, Zackai Elaine H, Bedoukia Emma C, Wilkens Alisha, Tarpinian Jennifer, Izumi Kosuke, Skraban Cara M, Deardorff Matthew A, Medne Livija, Krantz Ian D, Krock Bryan L, Santani Avni B: Molecular diagnostic outcomes from 700 cases: what can we learn from a retrospective analysis of clinical exome sequencing? J Mol Diagn 24(3): 274-286, Mar 2022.
Xu Feng, Aref-Eshghi Erfan, Wu Jinhua, Schubert Jeffrey, Wertheim Gerald, Bhatti Tricia, Pogoriler Jennifer, Patel Maha, Cao Kajia, Long Ariel, Fan Zhiqian, Denenberg Elizabeth, Fanning Elizabeth, Wilmoth Donna, Luo Minjie, Conlin Laura, Sarah Dain Aleksandra, Baldino Sarah, Zelley Kristin, Balamuth Naomi J, Macfarland Suzanne, Li Marilyn M, Zhong Yiming: A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome. Cold Spring Harb Mol Case Stud Mar 2022 Notes: doi: 10.1101/mcs.a006181.
2021
Hirsch Yoel, Tangshewinsirikul Chayada, Booth Kevin T., Azaiez Hela, Yefet Devorah, Quint Adina, Weiden Tzvi, Brownstein Zippora, Macarov Michal, Davidov Bella, Pappas John, Rabin Rachel, Kenna Margaret A., Oza Andrea M., Lafferty Katherine, Amr Sami S, Rehm Heidi L., Kolbe Diana L., Frees Kathy, Nishimura Carla, Luo Minjie, Farra Chantal, Morton Cynthia C., Scher Sholem Y., Ekstein Josef, Avraham Karen B., Smith Richard J. H., Shen Jun: A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. European Journal of Human Genetics Jan 2021 Notes: doi: 10.1038/s41431-020-00790-w.
Ross Justyne E., Zhang Bing M., Lee Kristy, Mohan Shruthi, Branchford Brian R., Bray Paul, Dugan Stefanie N., Freson Kathleen, Heller Paula G., Kahr Walter H. A., Lambert Michele P., Luchtman-Jones Lori, Luo Minjie, Perez Botero Juliana, Rondina Matthew T., Ryan Gabriella, Westbury Sarah, Bergmeier Wolfgang, Di Paola Jorge: Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel. Blood Advances 5(2): 414-431, Jan 2021.
Viaene Angela N., Pu Cunfeng, Perry Arie, Li Marilyn M., Luo Minjie, Santi Mariarita : Congenital tumors of the central nervous system: an institutional review of 64 cases with emphasis on tumors with unique histologic and molecular characteristics. Brain Pathology 31(1), Jan 2021.
Zhao Xiaonan, Kotch Chelsea, Fox Elizabeth, Surrey Lea F., Wertheim Gerald B., Baloch Zubair W., Lin Fumin, Pillai Vinodh, Luo Minjie, Kreiger Portia A., Pogoriler Jennifer, Linn Rebecca L, Russo Pierre A., Santi Mariarita, Resnick Adam C., Storm Phillip B., Hunger Stephen P., Bauer Andrew J., Li Marilyn M. : NTRK fusions identified in pediatric tumors: the frequency, fusion partners, and clinical outcome. Journal of Clinical Oncology-Precision Oncology 5: 204-214, Jan 2021.
Lalonde Emilie, Rentas Stefan, Wertheim Gerald, Cao Kajia, Surrey Lea F, Lin Fumin, Zhao Xiaonan, Obstfeld Amrom, Aplenc Richard, Luo Minjie, Li Marilyn M: Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies. Cold Spring Harb Mol Case Stud 7(2): a005975, Apr 2021.
Simi Andrea, Perry Julia, Schindler Emma, Oza Andrea, Luo Minjie, Hartman Tiffiney, Krantz Ian D, Germiller John A, Kawai Kosuke, Kenna Margaret: Audiologic phenotype and progression in pediatric STRC-related autosomal recessive hearing loss. Laryngoscope Jun 2021 Notes: doi: 10.1002/lary.29680.
Spencer Mangum David, Meyer Julia A, Mason Clinton C, Shams Soheil, Maese Luke D, Gardiner Jamie D, Downie Jonathan M, Pei Deqing, Cheng Cheng, Gleason Adam, Luo Minjie, Pui Ching-Hon, Aplenc Richard, Hunger Stephen P, Loh Mignon, Greaves Mel, Trede Nikolaus, Raetz Elizabeth, Frazer J Kimble, Mullighan Charles G, Engel Michael E, Miles Rodney R, Rabin Karen R, Schiffman Joshua D: Association of combined focal 22q11.22 deletion and IKZF1 alterations with outcomes in childhood acute lymphoblastic leukemia. JAMA Oncol Aug 2021 Notes: doi: 10.1001/jamaoncol.2021.2723.
Mangum David Spencer, Meyer Julia A, Mason Clinton C, Shams Soheil, Maese Luke D, Gardiner Jamie D, Downie Jonathan M, Pei Deqing, Cheng Cheng, Gleason Adam, Luo Minjie, Pui Ching-Hon, Aplenc Richard , Hunger Stephen P, Loh Mignon, Greaves Mel, Trede Nikolaus, Raetz Elizabeth, J Kimble Frazer, Mullighan Charles G, Engel Michael E, Miles Rodney R, Rabin Karen R, Schiffman Joshua D: Association of combined focal 22q11.22 deletion and IKZF1 alterations with outcomes in childhood acute lymphoblastic leukemia. JAMA Oncol 7(10): 1521-1528, Oct 2021.
2020
Rajagopalan Ramakrishnan, Murrell Jill, Luo Minjie, Conlin Laura K.: A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. Genome Medicine 12(1): 14, Jan 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.
Akkari Yassmine, Bruyere Helene, Hagelstrom Tanner R., Kanagal-Shamanna Rashmi, Liu Jie, Luo Minjie, Mikhail Fady M., Pitel Beth, Raca Gordana, Shago Mary, Shao Lina, Smith Lisa R., Smolarek Teresa A., Yenamandra Ashwini, and Baughn Linda B.: Evidence-based review of genomic aberrations in B-lymphoblasticleukemia/lymphoma: report from the Cancer Genomics Consortium Working Group for lymphoblastic leukemia Cancer Genetics 243: 52-72, Mar 2020.
Perez Botero Juliana, Lee Kristy, Branchford Brian R., Bray Paul F., Freson Kathleen, Lambert Michele P., Luo Minjie, Mohan Shruthi, Ross Justyne E., Bergmeier Wolfgang, Paola Jorge Di: Glanzmann thrombasthenia: genetic basis and clinical correlates. Haematologica 105(4): 888-894, Apr 2020.
Rentas Stefan, Pillai Vinodh, Wertheim Gerald, Akgumus Gozde T., Nichols Kim E., Deardorff Matthew A., Conlin Laura K., Li Marilyn M., Olson Timothy S., Luo Minjie: Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. Cancer Genetics 245: 42-48, Jul 2020.
Jung Hou-Sung, Lin Fumin, Wolpaw Adam, Reilly Anne F., Margolskee Elizabeth, Luo Minjie, Wertheim Gerald B., Li Marilyn M.: A novel KMT2A-ARHGEF12 fusion gene identified in a high-grade B-cell lymphoma. Cancer Genetics 246-247: 41-43, Aug 2020.
Zhong Yiming, Schubert Jeffery, Wu Jinhua, Xu Feng, Lin Fumin, Cao Kajia, Zelley Kristin, Luo Minjie, Foster Jessica, Cole Kristina A., Macfarland Suzanne, Resnick Adam C., Storm Phillip B., and Li Marilyn M.: A germline PALB2 pathogenic variant identified in a pediatric high grade glioma. CSH Molecular Case Studies 6(4): a005397, Aug 2020.
2019
Baker Samuel W, Murrell Jill, Nesbitt Addie I, Pechter Kieran B, Balciuniene Jorune, Zhao Xiaonan, Yu Zhenming, Denenberg Elizabeth, Dechene Elizabeth, Wilkens Alisha, Bhoj Elizabeth, Guan Qiaoning, Dulik Matthew, Conlin Laura, Abou Tayoun Ahmad, Luo Minjie, Wu Chao, Cao Kajia, Sarmady Mahdi, Bedoukian Emma, Tarpinian Jennifer, Medne Livija, Skraban Cara, Deardorff Matthew, Krantz Ian, Krock Bryan, Santani Avni B. : Automated clinical exome reanalysis reveals novel diagnoses. The Journal of Molecular Diagnostics 21(1): 38-48, Jan 2019.
Luo Xi, Feurstein Simone, Mohan Shruthi, Porter Christopher C., Jackson Sarah A., Keel Sioban, Chicka Michael, Brown Anna L., Kesserwan Chimene, Agarwal Anupriya, Luo Minjie, Li Zejuan, Ross Justyne E., Baliakas Panagiotis, Pineda-Alvarez Daniel, DiNardo Courtney D., Bertuch Alison A., Mehta Nikita, Vulliamy Tom, Wang Ying, Nichols Kim E., Malcovati Luca, Walsh Michael F., Rawlings Lesley H., McWeeney Shannon K., Soulier Jean, Raimbault Anna, Routbort Mark J., Zhang Liying, Ryan Gabriella, Speck Nancy A., Plon Sharon E., Wu David, and Godley Lucy A : ClinGen myeloid malignancy variant curation expert panel recommendations for germline RUNX1 variants. Blood Advances 3(20): 2962-2979, Oct 2019.
Archana Shenoy A, Surrey Lea F., Jain Payal, Straka Joshua, Resnick Adam C., Waanders Angela J., Luo Minjie, Li Marilyn, Wojcik John and Pogoriler Jennifer: Sclerosing epithelioid fibrosarcoma of the bone with rare EWSR1-CREB3L3 translocation driving upregulation of the PI3K/mTOR signaling pathway. Pediatric and Developmental Pathology 22(6): 594-598, Nov-Dec 2019.
Pillai Vinodh, Muralidharan Kavitha, Meng Wenzhao, Bagashev Asen, Oldridge Derek A., Rosenthal Jaclyn, Van Arnam John, Melenhorst Jos J., Mohan Diwakar, DiNofia Amanda M., Luo Minjie, Cherian Sindhu, Fromm Jonathan R., Wertheim Gerald, Thomas-Tikhonenko Andrei, Paessler Michele, June Carl H., Luning Prak Eline T., Bhoj Vijay G., Grupp Stephan A., Maude Shannon L., and Rheingold Susan R.: CAR T cell therapy is effective for CD19-dim B-lymphoblastic leukemia but is impacted by prior blinatumomab therapy. Blood Advances 3(22): 3539-3549, Nov 2019.
Shen Jun, Oza Andrea M, del Castillo Ignacio, Duzkale Hatice, Matsunaga Tatsuo, Pandya Arti, Kang Hyunseok P, Mar-Heyming Rebecca, Guha Saurav, Moyer Krista, Lo Christine, Kenna Margaret, Alexander John, Zhang Yan, Hirsch Yoel, Luo Minjie, Cao Ye, Choy Kwong Wai, Cheng Yen-Fu, Avraham Karen B, Hu Xinhua, Garrido Gema, Moreno-Pelayo Miguel A, Greinwald John, Zhang Kejian, Zeng Yukun, Brownstein Zippora, Basel-Vanagaite Lina, Davidov Bella, Frydman Moshe, Weiden Tzvi, Nagan Narasimhan, Willis Alecia, Hemphill Sarah E., Grant Andrew R, Siegert Rebecca K, DiStefano Marina T, Amr Sami S, Rehm Heidi L, Abou Tayoun Ahmad N on behalf of the ClinGen Hearing Loss Working Group: Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genetics in Medicine 21(11): 2442-2452, Nov 2019.
MacFarland Suzanne P., Zelley Kristin, Surrey Lea F., Gallo Daniel, Luo Minjie, Raman Pichai, Wertheim Gerald, Hunger Stephen P., Li Marilyn, and Brodeur Garrett M: Pediatric somatic tumor sequencing identifies underlying cancer predisposition. Journal of Clinical Oncology-Precision Oncology 3: PO.19.00062, Dec 2019.
2018
McDonald Kristin G., Nesbitt Addie, Cao Kajia, Yu Zhenming, Denenberg Elizabeth, DeChene Elizabeth, Guan Qiaoning, Bhoj Elizabeth, Zhou Xiangdong, Zhang Bo, Wu Chao, Dubbs Holly, Wilkens Alisha, Medne Livija, Bedoukian Emma, White Peter S., Pennington Jeffrey, Luo Minjie, Conlin Laura, Monos Dimitri, Sarmady Mahdi, Marsh Eric, Zackai Elaine, Spinner Nancy, Krantz Ian, Deardorff Matt, and Santani Avni: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genetics in Medicine 20(3): 329-336, Mar 2018.
Amr Sami S, Murphy Elissa, Duffy Elizabeth, Niazi Rojeen, Balciuniene Jorune, Luo Minjie, Rehm Heidi L, and Abou Tayoun Ahmad N: Allele-specific droplet digital PCR combined with an NGS-based algorithm for accurate diagnostic copy number analysis in genes with high homology: the case for Stereocilin. Clinical Chemistry 64(4): 705-714, Apr 2018.
Jain Payal, Surrey Lea, Straka Joshua, Luo Minjie, Lin Fumin, Harding Brian, Resnick Adam, Storm Phillip, Buccoliero Anna Maria, Santi Mariarita, Li Marilyn, Waanders Angela: Novel FGFR2-INA fusion identified in two low-grade mixed neuronal-glial tumors drives oncogenesis via MAPK and PI3K/mTOR pathway activation. Acta Neuropathol 136(1): 167-169, May 2018.
Rosenthal Jaclyn, Naqvi Ammar S, Luo Minjie, Wertheim Gerald, Paessler Michele, Thomas-Tikhonenko Andrei, Rheingold Susan R, and Pillai Vinodh. : Heterogeneity of surface CD19 and CD22 expression in B lymphoblastic leukemia. American Journal of Hematology 93(11): E352-E355, Nov 2018.
Walsh Michael F, Ritter Deborah I, Kesserwan Chimene, Sonkin Dmitriy, Chakravarty Debyani, Chao Elizabeth, Ghosh Rajarshi, Kemel Yelena, Wu Gang, Lee Kristy, Kulkarni Shashi, Hedges Dale, Mandelker Diana, Ceyhan-Birsoy Ozge, Luo Minjie, Drazer Michael, Zhang Liying, Offit Kenneth, Plon Sharon E: Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Human Mutation 39(11): 1542-1552, Nov 2018.
Guan Qiaoning, Balciuniene Jorune, Cao Kajia, Fan Zhiqian, Biswas Sawona, Wilkens Alisha, Gallo Daniel J, Bedoukian Emma, Tarpinian Jennifer, Jayaraman Pushkala, Sarmady Mahdi, Dulik Matthew, Santani Avni, Spinner Nancy, Abou Tayoun Ahmad N, Krantz Ian D, Conlin Laura K, Luo Minjie: AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Genetics in Medicine. 20(12), Dec 2018.
Sheppard Sarah, Biswas Sawona, Li Mindy H., Jayaraman Vijayakumar, Slack Ian, Romasko Edward J., Sasson Ariella, Brunton Joshua, Rajagopalan Ramakrishnan, Sarmady Mahdi, Abrudan Jenica L., Jairam Sowmya, DeChene Elizabeth T., Ying Xiahoan, Choi Jiwon, Wilkens Alisha, Raible Sarah E., Scarano Maria I., Santani Avni, Pennington Jeffrey W., Luo Minjie, Conlin Laura K., Devkota Batsal, Dulik Matthew C., Spinner Nancy B., Krantz Ian D.: Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genetics in Medicine 20(12): 1663-1676, Dec 2018.
Editorials, Reviews, Chapters
2007
Li Honghua, Wang Hui-Yun, Cui Xiangfeng, Luo Minjie, Hu Guohong, Greenawalt Danielle M, Tereshchenko Irina V, Li James Y, Chu Yi, Gao Richeng: High-throughput genotyping of single nucleotide polymorphisms with high sensitivity. Methods in Molecular Biology (Clifton, N.J.) 396: 281-294, Nov 2007.
2006
Li Honghua, Cui Xiangfeng, Greenawalt Danielle M, Hu Guohong, Chimge Nyam-Osor, Pramanik Sreemanta, Luo Minjie, Wang Hui-Yun, Tereshchenko Irina V, Azaro Marco A, Lin Yong, Yang Qifeng, Li James Y, Chu Yi, Lin Zhenwu, Gao Richeng, Shen Li, DeCoste Christina J, Shi Weichung: Microarray analysis of a large number of single nucleotide polymorphisms in individual human spermatozoa. Genetics of Male Infertility. Carrell DT (eds.). Humana Press Inc. Page: 55-76, Sept 2006.