Minjie Luo, PhD

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

Contact InformationThe Children’s Hospital of Philadelphia
716D Abramson Research Building
34th and Civic Center Blvd.
Philadelphia, PA 19104
Office: 267-426-5101
Fax: 215-590-2156


PhD Zhejiang University School of Medicine, Hangzhou, China, 2000

Specialty Certification

Diplomate, American Board of Medical Genetics and Genomics, Clinical Molecular Genetics, 2011
Diplomate, American Board of Medical Genetics and Genomics, Clinical Cytogenetics, 2013

Postgraduate Training

Research Fellow, Cancer Institute of New Jersey/Department of Genetics, University of Medicine and Dentistry of New Jersey, 2001-2003
American Board of Medical Genetics & Genomics Fellow in Clinical Molecular Genetics, Mount Sinai School of Medicine, New York, 2008-2010
American Board of Medical Genetics & Genomics Fellow in Clinical Cytogenetics, Mount Sinai School of Medicine, New York, 2010-2012

Awards and Honors

Scientific & Technical Development Award of Zhejiang Province (3rd Place), Government of Zhejiang Province, 1997
GuangHua Scholarship, Zhejiang University, 1998
Scientific & Technical Development Award of Zhejiang Province (3rd Place), Government of Zhejiang Province, 1999
GuangHua Scholarship, Zhejiang University, 1999
Certificate of Honor, Health Department of Zhejiang Province, 1999
Outstanding Graduate Student for Doctor and Master Degree Recipients of Zhejiang Province, 2000
Gallo Award for Outstanding Cancer Research, Cancer Research in New Jersey, 2002
Research Achievement Award, The Research Committee in UMDNJ-RWJMS, New Jersey, 2003
Scientific & Technical Development Award of Zhejiang Province (1st Place), Government of Zhejiang Province, 2005
Top Rated Poster, The American Society of Human Genetics Annual Meeting, 2016

Memberships and Professional Organizations

American Society of Human Genetics, 2003 - Present
American College of Medical Genetics, 2012 - Present
Cancer Genomics Consortium, 2015 - Present
Children's Oncology Group, 2015 - Present
College of American Pathologists, 2015 - Present

Web Links

Selected Publications

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss

Chen Robert, Diaz-Miranda Maria Alejandra, Aref-Eshghi Erfan, Hartman Tiffiney R, Griffith Christopher, Morrison Jennifer L, Wheeler Patricia G, Torti Erin, Richard Gabriele, Kenna Margaret, Dechene Elizabeth T, Spinner Nancy B, Bai Renkui, Conlin Laura K, Krantz Ian D, Amr Sami S, Luo Minjie, Hum Mutat 43(12): , 2022, PMID:35870179

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Long-read sequencing for molecular diagnostics in constitutional genetic disorders

Conlin Laura K, Aref-Eshghi Erfan, McEldrew Deborah A, Luo Minjie, Rajagopalan Ramakrishnan, Hum Mutat 43(11): 1531-1544, 2022, PMID:36086952

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Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma

Xu Feng, Viaene Angela N, Ruiz Jenny, Schubert Jeffrey, Wu Jinhua, Chen Jiani, Cao Kajia, Fu Weixuan, Bagatell Rochelle, Fan Zhiqian, Long Ariel, Pagliaroli Luca, Zhong Yiming, Luo Minjie, Kreiger Portia A, Surrey Lea F, Wertheim Gerald B, Cole Kristina A, Li Marilyn M, Santi Mariarita, Storm Phillip B, Acta Neuropathol Commun 10(1): 102, 2022, PMID:35836290

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Congenital tumors of the central nervous system: an institutional review of 64 cases with emphasis on tumors with unique histologic and molecular characteristics

Viaene Angela N., Pu Cunfeng, Perry Arie, Li Marilyn M., Luo Minjie, Santi Mariarita, Brain Pathol 31(1): , 2021, PMID:32681571

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NTRK fusions identified in pediatric tumors: the frequency, fusion partners, and clinical outcome

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., JCO Precis Oncol 5(): 204-214, 2021, PMID:34036219

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Audiologic phenotype and progression in pediatric STRC-related autosomal recessive hearing loss

Simi Andrea, Perry Julia, Schindler Emma, Oza Andrea, Luo Minjie, Hartman Tiffiney, Krantz Ian D, Germiller John A, Kawai Kosuke, Kenna Margaret, Laryngoscope 131(12): E2897-E2903, 2021, PMID:34111299

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A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Rajagopalan Ramakrishnan, Murrell Jill, Luo Minjie, Conlin Laura K., Genome Med 12(1): 14, 2020, PMID:32000839

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Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome

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, Cancer Genet 245(): 42-48, 2020, PMID:32619790

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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

Neill Stewart G., Hauenstein Jennifer, Li Marilyn M., Liu Yajuan, Luo Minjie, Saxe Debra F., and Ligon Azra H., Cancer Genet 243(): 19-47, 2020, PMID:32203924

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Pediatric somatic tumor sequencing identifies underlying cancer predisposition

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, JCO Precis Oncol 3(): PO.19.00062, 2019, PMID:32783018

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