Minjie Luo, PhD

faculty photo
Associate Professor of Clinical Pathology and Laboratory Medicine
Director, Division of Genomic Diagnosis, The Children's Hospital of Philadelphia
Program Director, Laboratory Genetics and Genomics Program accredited by the Accreditation Council for Graduate Medical Education at CHOP/UPENN
Department: Pathology and Laboratory Medicine

Contact information
Division of Genomic Diagnostics Lab
Dept. of Pathology & Lab Medicine
The Children's Hospital of Philadelphia
3615 Civic Center Blvd., 716D ARC
Philadelphia, PA 19104
Office: 267-426-5101
Fax: 215-590-2156
Education:
PhD
Zhejiang University School of Medicine, Hangzhou, China, 2000.
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Selected Publications

Luo Minjie, Wong Derek, Zelley Kristin, Wu Jinhua, Schubert Jeffery, Denenberg Elizabeth H, Fanning Elizabeth A, Chen Jiani, Gallo Daniel, Golenberg Netta, Patel Maha, Conlin Laura K, Maxwell Kara N, Wertheim Gerald B, Surrey Lea F, Zhong Yiming, Brodeur Garrett M, MacFarland Suzanne P, Li Marilyn M: Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence. J Natl Cancer Inst 116(8): 1356-1365, Aug 2024.

Lin Fumin, Cao Kajia, Chang Fengqi, Oved Joseph H, Luo Minjie, Fan Zhiqian, Schubert Jeffrey, Wu Jinhua, Zhong Yiming, Gallo Daniel J, Denenberg Elizabeth H, Chen Jiani, Fanning Elizabeth A, Lambert Michele P, Paessler Michele E, Surrey Lea F, Zelley Kristin, MacFarland Suzanne, Kurre Peter, Olson Timothy S, Li Marilyn M: Uncovering the genetic etiology of inherited bone marrow failure syndromes using a custom-designed next-generation sequencing panel. J Mol Diagn 26(3): 191-201, Mar 2024.

Newman Haley, Clark Mary Egan, Wong Derek, Wu Jinhua, Brodeur Garrett M, Hunger Stephen P, Tasian Sarah K, Olson Timothy, Warren Julia T, Teachey David T, Bona Kira, Schubert Jeffrey, Golenberg Netta, Patel Maha, Denenberg Elizabeth H, Fanning Elizabeth A, Chen Jiani, Luke Tamara, Charles Sarah, Gallo Daniel, Cao Kajia, Fu Weixuan, Fan Zhiqian, Surrey Lea F, Wertheim Gerald, Luo Minjie, MacFarland Suzanne P, Li Marilyn M, Zhong Yiming: Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing. Haematologica 109(9): 3024-3030, Feb 2024.

Yamamoto Nobuko, Balciuniene Jorune, Hartman Tiffiney, Diaz-Miranda Maria Alejandra, Bedoukian Emma, Devkota Batsal, Lawrence Audrey, Golenberg Netta, Patel Maha, Tare Archana, Chen Robert, Schindler Emma, Choi Jiwon, Kaur Maninder, Charles Sarah, Chen Jiani, Fanning Elizabeth A, Dechene Elizabeth, Cao Kajia, Jill Murrell R, Rajagopalan Ramakrishnan, Bayram Yavuz, Dulik Matthew C, Germiller John, Conlin Laura K, Krantz Ian D, Luo Minjie: Comprehensive gene panel testing for hearing loss in children: understanding factors influencing diagnostic yield. J Pediatr 262: 113620, July 2023 Notes: No issue.

Conlin Laura K, Aref-Eshghi Erfan, McEldrew Deborah A, Luo Minjie, Rajagopalan Ramakrishnan: Long-read sequencing for molecular diagnostics in constitutional genetic disorders. Hum Mutat 43(11): 1531-1544, Nov 2022.

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: Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Hum Mutat 43(12), Dec 2022.

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: Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma. Acta Neuropathol Commun 10(1): 102, Jul 2022.

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 Pathol 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: NTRK fusions identified in pediatric tumors: the frequency, fusion partners, and clinical outcome. JCO Precis Oncol 5: 204-214, Jan 2021 Notes: No issue.

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. JCO Precis Oncol 3: PO.19.00062, Dec 2019 Notes: No issue.

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Last updated: 03/14/2025
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