Skip to Main Content

Author Details

Minjie Luo
Children's Hospital of Philadelphia
2004
61
20
PMIDPaper TitleJournal TitlePublished Year
37473993Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.J Pediatr2023
37473993Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.J Pediatr2023
37250588Relationship between Monoclonal Gammopathy of undetermined significance and multiple myeloma via online database analysis.Pak J Med Sci2023
37170750Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing.Clin Chem2023
37250588Relationship between Monoclonal Gammopathy of undetermined significance and multiple myeloma via online database analysis.Pak J Med Sci2023
37170750Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing.Clin Chem2023
35232817A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndrome.Cold Spring Harb Mol Case Stud2022
35836290Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.Acta Neuropathol Commun2022
36086952Long-read sequencing for molecular diagnostics in constitutional genetic disorders.Hum Mutat2022
35696422Deletion C-terminal thioesterase abolishes melanin biosynthesis, affects metabolism and reduces the pathogenesis of Fonsecaea monophora.PLoS Negl Trop Dis2022
35870179Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.Hum Mutat2022
35865311Case Report: Reversible Hyperglycemia Following Rapamycin Treatment for Atypical Choroid Plexus Papilloma in an Infant.Front Endocrinol (Lausanne)2022
35857506ZMYND8 is a master regulator of 27-hydroxycholesterol that promotes tumorigenicity of breast cancer stem cells.Sci Adv2022
35777130IL-1R1 blockade attenuates liver injury through inhibiting the recruitment of myeloid-derived suppressor cells in sepsis.Biochem Biophys Res Commun2022
35232817A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndrome.Cold Spring Harb Mol Case Stud2022
35065284Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?J Mol Diagn2022
35836290Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.Acta Neuropathol Commun2022
35857506ZMYND8 is a master regulator of 27-hydroxycholesterol that promotes tumorigenicity of breast cancer stem cells.Sci Adv2022
35696422Deletion C-terminal thioesterase abolishes melanin biosynthesis, affects metabolism and reduces the pathogenesis of Fonsecaea monophora.PLoS Negl Trop Dis2022
35777130IL-1R1 blockade attenuates liver injury through inhibiting the recruitment of myeloid-derived suppressor cells in sepsis.Biochem Biophys Res Commun2022
35870179Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.Hum Mutat2022
35865311Case Report: Reversible Hyperglycemia Following Rapamycin Treatment for Atypical Choroid Plexus Papilloma in an Infant.Front Endocrinol (Lausanne)2022
36086952Long-read sequencing for molecular diagnostics in constitutional genetic disorders.Hum Mutat2022
35065284Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?J Mol Diagn2022
32681571Congenital tumors of the central nervous system: an institutional review of 64 cases with emphasis on tumors with unique histologic and molecular characteristics.Brain Pathol2021
34111299Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.Laryngoscope2021
33832921Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.Cold Spring Harb Mol Case Stud2021
33775353Circ-SKA3 upregulates ID3 expression by decoying miR-326 to accelerate the development of medulloblastoma.J Clin Neurosci2021
34036219NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.JCO Precis Oncol2021
33496739Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.Blood Adv2021
32681571Congenital tumors of the central nervous system: an institutional review of 64 cases with emphasis on tumors with unique histologic and molecular characteristics.Brain Pathol2021
33398081A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.Eur J Hum Genet2021
34410295Association of Combined Focal 22q11.22 Deletion and IKZF1 Alterations With Outcomes in Childhood Acute Lymphoblastic Leukemia.JAMA Oncol2021
33832921Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.Cold Spring Harb Mol Case Stud2021
33775353Circ-SKA3 upregulates ID3 expression by decoying miR-326 to accelerate the development of medulloblastoma.J Clin Neurosci2021
33496739Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.Blood Adv2021
34410295Association of Combined Focal 22q11.22 Deletion and IKZF1 Alterations With Outcomes in Childhood Acute Lymphoblastic Leukemia.JAMA Oncol2021
34036219NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.JCO Precis Oncol2021
34111299Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.Laryngoscope2021
33398081A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.Eur J Hum Genet2021
32139434Glanzmann thrombasthenia: genetic basis and clinical correlates.Haematologica2020
32203924Copy number assessment in the genomic analysis of CNS neoplasia: An evidence-based review from the cancer genomics consortium (CGC) working group on primary CNS tumors.Cancer Genet2020
32139434Glanzmann thrombasthenia: genetic basis and clinical correlates.Haematologica2020
31900259HIF2-Induced Long Noncoding RNA RAB11B-AS1 Promotes Hypoxia-Mediated Angiogenesis and Breast Cancer Metastasis.Cancer Res2020
32302940Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia.Cancer Genet2020
32000839A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.Genome Med2020
32805689A Novel KMT2A-ARHGEF12 Fusion Gene Identified in a High-Grade B-cell Lymphoma.Cancer Genet2020
32738923Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.J Transl Med2020
32619790Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome.Cancer Genet2020
32554798A germline <i>PALB2</i> pathogenic variant identified in a pediatric high-grade glioma.Cold Spring Harb Mol Case Stud2020
  • 1 - 50 of 122

Recommended Authors

Nayoung K D Kim
Samsung Genome Institute, Samsung Medical Center
Career Start Year 2013
Number of shared co-authors 0
Zeynep Coban Akdemir
Baylor College of Medicine
Career Start Year 2012
Number of shared co-authors 5
Christian Gilissen
Radboud University Medical Center
Career Start Year 2009
Number of shared co-authors 3
Catherine E Cottrell
Nationwide Children's Hospital
Career Start Year 2009
Number of shared co-authors 6
Benjamin J Kelly
Nationwide Children's Hospital
Career Start Year 2009
Number of shared co-authors 1
Jianling Ji
Children's Hospital Los Angeles
Career Start Year 2009
Number of shared co-authors 10
Hongbo M Xie
Huadong Hospital Affiliated to Fudan University
Career Start Year 2007
Number of shared co-authors 15
Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
Career Start Year 2007
Number of shared co-authors 3
Richard H Scott
Great Ormond Street Hospital
Career Start Year 2006
Number of shared co-authors 7
Mark J Cowley
Children's Cancer Institute, Lowy Cancer Research Centre
Career Start Year 2006
Number of shared co-authors 2
David T Miller
Boston Children's Hospital
Career Start Year 2005
Number of shared co-authors 11
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Career Start Year 2005
Number of shared co-authors 5
David W Craig
University of Southern California
Career Start Year 2004
Number of shared co-authors 0
Jennifer E Posey
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 4
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Career Start Year 2002
Number of shared co-authors 2
Stacey Gabriel
Broad Institute of MIT and Harvard
Career Start Year 2001
Number of shared co-authors 10
Kai Wang
University of Pennsylvania
Career Start Year 2001
Number of shared co-authors 6
Caroline Astbury
Pathology and Laboratory Medicine Institute, Cleveland Clinic
Career Start Year 2001
Number of shared co-authors 2
Eric W Klee
Mayo Clinic College of Medicine and Science
Career Start Year 2001
Number of shared co-authors 6
Michael N Edmonson
St. Jude Children's Research Hospital
Career Start Year 1999
Number of shared co-authors 8
Sean McGrath
Harvard T.H. Chan School of Public Health
Career Start Year 1996
Number of shared co-authors 2
Jenny C Taylor
University of Oxford
Career Start Year 1996
Number of shared co-authors 5
Tom Walsh
University of Washington
Career Start Year 1996
Number of shared co-authors 18
Robert S Fulton
McDonnell Genome Institute, Washington University School of Medicine
Career Start Year 1994
Number of shared co-authors 11
Stanley F Nelson
university of california los angeles
Career Start Year 1993
Number of shared co-authors 4
Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Career Start Year 1993
Number of shared co-authors 3
Julie M Gastier-Foster
Baylor College of Medicine
Career Start Year 1992
Number of shared co-authors 17
Jinghui Zhang
Changhai Hospital, Second Military Medical University
Career Start Year 1992
Number of shared co-authors 21
Donna M Muzny
Baylor College of Medicine
Career Start Year 1988
Number of shared co-authors 12
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1987
Number of shared co-authors 14

Collaborators

Laura K Conlin
Children's Hospital of Philadelphia
Co-authored papers 16
Marilyn M Li
Children's Hospital of Philadelphia
Co-authored papers 13
Kajia Cao
Co-authored papers 11
Ian D Krantz
Children's Hospital of Philadelphia
Co-authored papers 10
Gerald Wertheim
Co-authored papers 9
Nancy B Spinner
The Perelman School of Medicine at the University of Pennsylvania
Co-authored papers 8
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 7
Lea F Surrey
Co-authored papers 7
Marco A Azaro
The State University of New Jersey
Co-authored papers 6
Matthew C Dulik
Children's Hospital of Philadelphia, University of Pennsylvania
Co-authored papers 5
Danielle M Greenawalt
Bristol-Myers Squibb Co.
Co-authored papers 5
Fumin Lin
Co-authored papers 5
Adam C Resnick
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Co-authored papers 4
Xiaonan Zhao
Co-authored papers 4
Mariarita Santi
Children's Hospital of Philadelphia
Co-authored papers 4
Phillip B Storm
Children's Hospital of Philadelphia
Co-authored papers 4
Sami S Amr
Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 4
Vinodh Pillai
Co-authored papers 4
Kristin Zelley
Co-authored papers 3
Shruthi Mohan
University of North Carolina at Chapel Hill
Co-authored papers 3
Kristy Lee
The University of North Carolina at Chapel Hill
Co-authored papers 3
Suzanne P MacFarland
Co-authored papers 3
Jeffrey W Pennington
Co-authored papers 3
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 3
Zhiqian Fan
Co-authored papers 3
Justyne E Ross
University of North Carolina at Chapel Hill
Co-authored papers 3
Jennifer Pogoriler
Children's Hospital Of Philadelphia
Co-authored papers 3
Stephen P Hunger
Children's Hospital of Philadelphia
Co-authored papers 3
Chimene Kesserwan
National Institutes of Health
Co-authored papers 2
Portia A Kreiger
Co-authored papers 2
Release 1.2