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Author Details

Marcel E Dinger
The University of Sydney
2000
164
59
PMIDPaper TitleJournal TitlePublished Year
36596869Long non-coding RNAs: definitions, functions, challenges and recommendations.Nat Rev Mol Cell Biol2023
37615576Evolutionary conservation of embryonic DNA methylome remodelling in distantly related teleost species.Nucleic Acids Res2023
37995194Protocol for the production and purification of an i-Motif-specific nanobody.STAR Protoc2023
37198692Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.Genome Biol2023
36868206Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.Am J Hum Genet2023
33788650The role of miRNAs and lncRNAs in conferring resistance to doxorubicin.J Drug Target2022
35409265Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.Int J Mol Sci2022
35641312Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.Neurology2022
35342084HLA alleles and haplotype frequencies in Iranian population.Hum Antibodies2022
35488342Interaction between non-coding RNAs, mRNAs and G-quadruplexes.Cancer Cell Int2022
35970915Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.Eur J Hum Genet2022
36332611Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.Am J Hum Genet2022
35948641The retroelement Lx9 puts a brake on the immune response to virus infection.Nature2022
32875540Identification of miRNA-mRNA Network in Autism Spectrum Disorder Using a Bioinformatics Method.J Mol Neurosci2021
33854469Destination Amyotrophic Lateral Sclerosis.Front Neurol2021
33847015Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.Hum Mutat2021
33842553The Impact of Non-coding RNAs in the Epithelial to Mesenchymal Transition.Front Mol Biosci2021
33632298ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.Genome Med2021
34101287Genome sequencing in congenital cataracts improves diagnostic yield.Hum Mutat2021
34205718A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol.Methods Protoc2021
34120067Emerging role of circular RNAs in the pathobiology of lung cancer.Biomed Pharmacother2021
33454598Non-coding RNAs modulate function of extracellular matrix proteins.Biomed Pharmacother2021
33422780Emerging role of non-coding RNAs in response of cancer cells to radiotherapy.Pathol Res Pract2021
33422487LncRNAs and miRNAs participate in determination of sensitivity of cancer cells to cisplatin.Exp Mol Pathol2021
33437033Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.Eur J Hum Genet2021
32499604Revealing hidden genetic diagnoses in the ocular anterior segment disorders.Genet Med2020
32076119Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia.Leukemia2020
31974348The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.Nat Commun2020
31910864Non-coding RNAs underlie genetic predisposition to breast cancer.Genome Biol2020
31848477Overcoming challenges and dogmas to understand the functions of pseudogenes.Nat Rev Genet2020
33096077The critical roles of lncRNAs in the pathogenesis of melanoma.Exp Mol Pathol2020
32580306Exploring the Role of Non-Coding RNAs in the Pathophysiology of Systemic Lupus Erythematosus.Biomolecules2020
32916160Dysregulation of non-coding RNAs in autoimmune thyroid disease.Exp Mol Pathol2020
32768981Emerging roles of non-coding RNAs in the pathogenesis of type 1 diabetes mellitus.Biomed Pharmacother2020
32763188Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.Am J Hum Genet2020
32759784Perspectives on the Role of Non-Coding RNAs in the Regulation of Expression and Function of the Estrogen Receptor.Cancers (Basel)2020
32781359Dysregulation of non-coding RNAs in Rheumatoid arthritis.Biomed Pharmacother2020
32639540Mutations in the exocyst component EXOC2 cause severe defects in human brain development.J Exp Med2020
30407482Index suffix-prefix overlaps by (w, k)-minimizer to generate long contigs for reads compression.Bioinformatics2019
31690716The long noncoding RNA lncNB1 promotes tumorigenesis by interacting with ribosomal protein RPL35.Nat Commun2019
31745186Development and validation of a targeted gene sequencing panel for application to disparate cancers.Sci Rep2019
29961767Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.Genet Med2019
31534238Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity.Nat Immunol2019
31129566Pathogenic variants in <i>PLOD3</i> result in a Stickler syndrome-like connective tissue disorder with vascular complications.J Med Genet2019
30808729Lipid Uptake Is an Androgen-Enhanced Lipid Supply Pathway Associated with Prostate Cancer Disease Progression and Bone Metastasis.Mol Cancer Res2019
30831321Mouse Model of Mutated in Colorectal Cancer Gene Deletion Reveals Novel Pathways in Inflammation and Cancer.Cell Mol Gastroenterol Hepatol2019
31148592Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.Eur J Hum Genet2019
30936196Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.Cold Spring Harb Mol Case Stud2019
30929740De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.Am J Hum Genet2019
30927468Preparing Australia for genomic medicine: data, computing and digital health.Med J Aust2019
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Harry Perkins Institute of Medical Research, University of Western Australia
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