Minjie Luo

faculty photo
Assistant Professor of Clinical Pathology and Laboratory Medicine
Department: Pathology and Laboratory Medicine

Contact information
The 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.
Permanent link
> Perelman School of Medicine   > Faculty   > Details

Selected Publications

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 January 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 Oct 2017.

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: CMIP haploinsufficiency in two patients with autism spectrum disorder and gastrointestinal issues. American Journal of Medical Genetics, Part A 173(8): 2101-2107, May 2017.

Surrey Lea F, Luo Minjie, Chang Fengqi, Li Marilyn M: The genomic era of clinical oncology: integrated genomic analysis for precision cancer care. Cytogenetic and Genome Research Dec 2016.

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: Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. Genetics in Medicine doi: 10.1038: 715-718, Oct 2016.

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: Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genetics in Medicine 18(4): 309-315, Apr 2016.

Luo Minjie, Mulchandani Surabhi, Dubbs Holly A., Swarr Daniel, Pyle Louise,Zackai Elaine H., Spinner Nancy B. and Conlin Laura K: Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. American Journal of Medical Genetics, Part A 9999A(12): 1-5, July 2015.

Luo Minjie, Liu Liu, Peter Inga, Zhu Jun, Scott Stuart A., Zhao Geping, Eversley Chevonne, Kornreich Ruth, Desnick Robert J., Edelmann Lisa: An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genetic in Medicine 16(2): 149-156, Feb 2014.

Scott Stuart A, Edelmann Lisa, Liu Liu, Luo Minjie, Desnick Robert J, Kornreich Ruth: Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Human Mutation 31(11): 1240-50, Nov 2010.

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: Genetic structures of copy number variants revealed by genotyping single sperm. PloS One 4(4): e5236, April 2009.

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Last updated: 07/25/2018
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