Minjie Luo, PhD
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
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
Fax: 215-590-2156
Education:
PhD
Zhejiang University School of Medicine, Hangzhou, China, 2000.
Permanent linkPhD
Zhejiang University School of Medicine, Hangzhou, China, 2000.
Selected Publications
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 S1525-1578(23), Dec 2023 Notes: doi: 10.1016/j.jmoldx.2023.11.010.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.
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.
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.
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.
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 M. : NTRK fusions identified in pediatric tumors: the frequency, fusion partners, and clinical outcome. JCO Precis Oncol 5: 204-214, Jan 2021.
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 Med 12(1): 14, Jan 2020.
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.
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.