HOW CAN WE HELP YOU? Call 1-800-TRY-CHOP
In This Section
Minjie Luo, PhD, FACMG
Director, Laboratory Genetics and Genomics Fellowship Program, Division of Genomic Diagnostics
Dr. Luo’s clinical research involves employing a variety of techniques to evaluate genetic and genomic alterations for integrated diagnosis of both constitutional disorders and cancer, and to understand the mechanisms of genomic changes.
Education and Training
PhD, Zhejiang University School Of Medicine, Hangzhou, China, 2000
ABMG Fellow Training, Mount Sinai School of Medicine (Molecular Genetics and Cytogenetics), New York City
Titles and Academic Titles
Director, Laboratory Genetics and Genomics Fellowship Program, Division of Genomic Diagnostics
Associate Professor of Clinical Pathology and Laboratory Medicine
Professional Memberships
American Society of Human Genetics, 2003-
American College of Medical Genetics, Fellow, 2012-
College of American Pathologists, 2015-
Children's Oncology Group, 2015-
Cancer Genomics Consortium, 2015
Professional Awards
Scientific & Technical Development Award of Zhejiang Province (3rd Place), Government of Zhejiang Province, 1997
GuangHua Scholarship, Zhejiang University, 1998
GuangHua Scholarship, Zhejiang University, 1999
Certificate of Honor, Health Department of Zhejiang Province, 1999
Scientific & Technical Development Award of Zhejiang Province (3rd Place), Government 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
Publication Highlights
Xu F, Aref-Eshghi E, Wu J, Schubert J, Wertheim G, Bhatti T, Pogoriler J, Patel M, Cao K, Long A, Fan Z, Denenberg EH, Fanning EA, Wilmoth DM, Luo M, Conlin LK, Dain AS, Zelley K, Baldino S, Balamuth N, Macfarland S, Li MM, Zhong Y. A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome. Cold Spring Harb Mol Case Stud. 2022 Apr; 8(3):a006181. PubMed PMID: 35232817
Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenber EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, Gibson KM, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukia EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB. Molecular diagnostic outcomes from 700 cases: what can we learn from a retrospective analysis of clinical exome sequencing?. J Mol Diagn. 2022 Mar; 24(3):274-86. PubMed PMID: 35065284
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RiJH, ShenJun. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. Eur J Hum Genet. 2021 Jun; 29(6):988-97. PubMeD PMID: 33398081
Ross JE, Zhang BM, Lee K, Mohan S, Branchford BR, Bray P, Dugan SN, Freson K, Heller PG, Walter HAK, Lambert MP, Luchtman-Jones L, Luo M, Botero JP, Rondina MT, Ryan G, Westbury S, Bergmeier W, Di Paola J. Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel. Blood Adv. 2021 Jan; 5(2):414-431. PubMed PMID: 33496739
Viaene AN, Pu C, Perry A, Li MM, Luo M, Santi M. 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.. 2021 Jan; 31(1):45-60. PubMed PMID: 32681571