Minjie Luo, PhD

Assistant Professor of Clinical Pathology and Laboratory Medicine
University of Pennsylvania Perelman School of Medicine

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 (Pathology & Pathophysiology), Zhejiang University School of Medicine, Hangzhou, China, 2000

Specialty Certification

American Board of Clinical Genetics, Clinical Molecular Genetics, 2011
American Board of Clinical Genetics, Clinical Cytogenetics, 2013
New York State Department of Health Certification of Qualification, Clinical Laboratory Director. Genetic Testing (Molecular) & Cytogenetics., 2014

Postgraduate Training

Postdoctoral Fellow, Cancer Institute of New Jersey/Department of Genetics, University of Medicine and Dentistry of New Jersey, 2001-2003
ABMG Fellow in Clinical Molecular Genetics, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, 2008-2010
ABMG Fellow in Clinical Cytogenetics, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, 2010-2012

Awards and Honors

The Excellent Thesis Prize of Zhejiang Province, Natural Science Committee of Zhejiang Province, 1997
GuangHua Scholarship, Zhejiang University, 1998
The 3rd Award, Scientific & Technical Development Award of Zhejiang Province, Government of Zhejiang Province, 1999
Scientific & Technical Development Award of Zhejiang Province (3rd Place), Government of Zhejiang Province, 1999
GuangHua Scholarship, Zhejiang University, 1999
The Certification of Honors, 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

Memberships and Professional Organizations

American Society of Human Genetics, 2003 - Present
American College of Medical Genetics, 2012 - Present

Web Links

Selected Publications

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

Amr Sami S, Murphy Elissa, Duffy Elizabeth, Niazi Rojeen, Balciuniene Jorune, Luo Minjie, Rehm Heidi L, and Abou Tayoun Ahmad N, Clinical Chemistry, 2018

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

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, Genetics in Medicine, 2017

CMIP haploinsufficiency in two patients with autism spectrum disorder and gastrointestinal issues.

Luo Minjie, Fan Jinbo, Wenger Tara L., Harr Margaret H., Racobaldo Melissa, Mulchandani Surabhi, Dubbs Holly, Zackai Elaine H., Spinner Nancy B., Conlin Laura K, American Journal of Medical Genetics, Part A 173(8): 2101-2107, 2017

The genomic era of clinical oncology: integrated genomic analysis for precision cancer care

Surrey Lea F, Luo Minjie, Chang Fengqi, Li Marilyn M, Cytogenetic and Genome Research, 2016, PMID:28002823

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Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing

Elizabeth J. Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A. Deardorff, Elaine Zackai, and Avni B. Santani, Genetics in Medicine doi: 10.1038(): 715-718, 2016, PMID:27763634

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

Surabhi Mulchandani, Elizabeth J. Bhoj,Minjie Luo,Nina Powell-Hamilton, Kim Jenny, Karen Gripp, Miriam Elbracht, Thomas Eggermann, Claire L.S. Turner, I. Karen Temple, Deborah J.G. Mackay, Holly Dubbs, David A. Stevenson, Leah Slattery, Elaine H. Zackai, Nancy B. Spinner, Ian D. Krantz, and Laura K. Conlin, Genetics in Medicine 18(4): 309-315, 2016, PMID:26248010

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Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies

Luo Minjie, Mulchandani Surabhi, Dubbs Holly A., Swarr Daniel, Pyle Louise,Zackai Elaine H., Spinner Nancy B. and Conlin Laura K, American Journal of Medical Genetics, Part A 9999A(12): 1-5, 2015, PMID:26198585

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An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy

Luo Minjie, Liu Liu, Peter Inga, Zhu Jun, Scott Stuart A., Zhao Geping, Eversley Chevonne, Kornreich Ruth, Desnick Robert J., Edelmann Lisa, Genetic in Medicine 16(2): 149-156, 2014, PMID:23788250

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Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

Scott Stuart A, Edelmann Lisa, Liu Liu, Luo Minjie, Desnick Robert J, Kornreich Ruth, Human Mutation 31(11): 1240-50, 2010, PMID:20672374

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Genetic structures of copy number variants revealed by genotyping single sperm.

Luo Minjie, Cui Xiangfeng, Fredman David, Brookes Anthony J, Azaro Marco A, Greenawalt Danielle M, Hu Guohong, Wang Hui-Yun, Tereshchenko Irina V, Lin Yong, Shentu Yue, Gao Richeng, Shen Li, Li Honghua, PloS One 4(4): e5236, 2009, PMID:19384415

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