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PubMed Publications| Keyword search (4,163 papers available) |  |
"diagnostic" Keyword-tagged Publications:
| Title | Authors | PubMed ID | |
|---|---|---|---|
| 1 | Wearable biosensors: A comprehensive overview | Wu KY; Su ME; Kim Y; Nguyen L; Marchand M; Tran SD; | 40683741 ENCS |
| 2 | All-Inclusive Sensing Tablet with Integrated Passive Mixer for Ultraviscous Solutions | Safiabadi Tali SH; Al-Kassawneh M; Mansouri M; Sadiq Z; Jahanshahi-Anbuhi S; | 40327804 ENCS |
| 3 | Self-Ambivalence Is Indirectly Associated With Obsessive-Compulsive and Eating Disorder Symptoms Through Different Feared Self-Themes | Wilson S; Mesli N; Mehak A; Racine SE; | 40227164 PSYCHOLOGY |
| 4 | Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance | Muffels IJJ; Waterham HR; D' Alessandro G; Zagnoli-Vieira G; Sacher M; Lefeber DJ; Van der Vinne C; Roifman CM; Gassen KLI; Rehmann H; Van Haaften-Visser DY; Nieuwenhuis ESS; Jackson SP; Fuchs SA; Wijk F; van Hasselt P; | 39920830 BIOLOGY |
| 5 | Update and validation of the Beliefs about Losing Control Inventory-II (BALCI-II): a psychometric investigation | Kelly-Turner K; Radomsky AS; | 39373713 PSYCHOLOGY |
| 6 | Are MEDLINE searches sufficient for systematic reviews and meta-analyses of the diagnostic accuracy of depression screening tools? A review of meta-analyses | Rice DB; Kloda LA; Levis B; Qi B; Kingsland E; Thombs BD; | 27411746 LIBRARY |
| 7 | Reporting quality in abstracts of meta-analyses of depression screening tool accuracy: a review of systematic reviews and meta-analyses | Rice DB; Kloda LA; Shrier I; Thombs BD; | 27864250 LIBRARY |
| 8 | At the mercy of myself: A thematic analysis of beliefs about losing control | Kelly-Turner K; Radomsky AS; | 38131416 PSYCHOLOGY |
| 9 | Transparency and completeness of reporting of depression screening tool accuracy studies: A meta-research review of adherence to the Standards for Reporting of Diagnostic Accuracy Studies statement | Nassar EL; Levis B; Neyer MA; Rice DB; Booij L; Benedetti A; Thombs BD; | 36047034 PSYCHOLOGY |
| 10 | Sample size and precision of estimates in studies of depression screening tool accuracy: A meta-research review of studies published in 2018-2021 | Nassar EL; Levis B; Neyer MA; Rice DB; Booij L; Benedetti A; Thombs BD; | 35362161 PSYCHOLOGY |
| 11 | Inclusion of currently diagnosed or treated individuals in studies of depression screening tool accuracy: a meta-research review of studies published in 2018-2021 | Nassar EL; Levis B; Rice DB; Booij L; Benedetti A; Thombs BD; | 35334411 PSYCHOLOGY |
| 12 | Should Burnout Be Conceptualized as a Mental Disorder? | Nadon L; De Beer LT; Morin AJS; | 35323401 PSYCHOLOGY |
| 13 | Probability of Major Depression Classification Based on the SCID, CIDI, and MINI Diagnostic Interviews: A Synthesis of Three Individual Participant Data Meta-Analyses | Wu Y; Levis B; Ioannidis JPA; Benedetti A; Thombs BD; | 32814337 LIBRARY |
| 14 | Probability of major depression diagnostic classification based on the SCID, CIDI and MINI diagnostic interviews controlling for Hospital Anxiety and Depression Scale - Depression subscale scores: An individual participant data meta-analysis of 73 primary studies | Wu Y; Levis B; Sun Y; Krishnan A; He C; Riehm KE; Rice DB; Azar M; Yan XW; Neupane D; Bhandari PM; Imran M; Chiovitti MJ; Saadat N; Boruff JT; Cuijpers P; Gilbody S; McMillan D; Ioannidis JPA; Kloda LA; Patten SB; Shrier I; Ziegelstein RC; Henry M; Ismail Z; Loiselle CG; Mitchell ND; Tonelli M; Al-Adawi S; Beraldi A; Braeken APBM; Büel-Drabe N; Bunevicius A; Carter G; Chen CK; Cheung G; Clover K; Conroy RM; Cukor D; da Rocha E Silva CE; Dabscheck E; Daray FM; Douven E; Downing MG; Feinstein A; Ferentinos PP; Fischer FH; Flint AJ; Fujimori M; Gallagher P; Gandy M; Goebel S; Grassi L; Härter M; Jenewein J; Jetté N; Julião M; Kim JM; Kim SW; Kjærgaard M; Köhler S; Loosman WL; Löwe B; Martin-Santos R; Massardo L; Matsuoka Y; Mehnert A; Michopoulos I; Misery L; Navines R; O' Donnell ML; Öztürk A; Peceliuniene J; Pintor L; Ponsford JL; Quinn TJ; Reme SE; Reuter K; Rooney AG; Sánchez-González R; Schwarzbold ML; Senturk Cankorur V; Shaaban J; Sharpe L; Sharpe M; Simard S; Singer S; Stafford L; Stone J; Sultan S; Teixeira AL; Tiringer I; Turner A; Walker J; Walterfang M; Wang LJ; White J; Wong DK; Benedetti A; Thombs BD; | 31911325 LIBRARY |
| 15 | Comparison of major depression diagnostic classification probability using the SCID, CIDI, and MINI diagnostic interviews among women in pregnancy or postpartum: An individual participant data meta-analysis | Levis B; McMillan D; Sun Y; He C; Rice DB; Krishnan A; Wu Y; Azar M; Sanchez TA; Chiovitti MJ; Bhandari PM; Neupane D; Saadat N; Riehm KE; Imran M; Boruff JT; Cuijpers P; Gilbody S; Ioannidis JPA; Kloda LA; Patten SB; Shrier I; Ziegelstein RC; Comeau L; Mitchell ND; Tonelli M; Vigod SN; Aceti F; Alvarado R; Alvarado-Esquivel C; Bakare MO; Barnes J; Beck CT; Bindt C; Boyce PM; Bunevicius A; Couto TCE; Chaudron LH; Correa H; de Figueiredo FP; Eapen V; Fernandes M; Figueiredo B; Fisher JRW; Garcia-Esteve L; Giardinelli L; Helle N; Howard LM; Khalifa DS; Kohlhoff J; Kusminskas L; Kozinszky Z; Lelli L; Leonardou AA; Lewis BA; Maes M; Meuti V; Nakic Radoš S; Navarro García P; Nishi D; Okitundu Luwa E-Andjafono D; Robertson-Blackmore E; Rochat TJ; Rowe HJ; Siu BWM; Skalkidou A; Stein A; Stewart RC; Su KP; Sundström-Poromaa I; Tadinac M; Tandon SD; Tendais I; Thiagayson P; Töreki A; Torres-Giménez A; Tran TD; Trevillion K; Turner K; Vega-Dienstmaier JM; Wynter K; Yonkers KA; Benedetti A; Thombs BD; | 31568624 LIBRARY |
| 16 | Equivalency of the diagnostic accuracy of the PHQ-8 and PHQ-9: a systematic review and individual participant data meta-analysis | Wu Y; Levis B; Riehm KE; Saadat N; Levis AW; Azar M; Rice DB; Boruff J; Cuijpers P; Gilbody S; Ioannidis JPA; Kloda LA; McMillan D; Patten SB; Shrier I; Ziegelstein RC; Akena DH; Arroll B; Ayalon L; Baradaran HR; Baron M; Bombardier CH; Butterworth P; Carter G; Chagas MH; Chan JCN; Cholera R; Conwell Y; de Man-van Ginkel JM; Fann JR; Fischer FH; Fung D; Gelaye B; Goodyear-Smith F; Greeno CG; Hall BJ; Harrison PA; Härter M; Hegerl U; Hides L; Hobfoll SE; Hudson M; Hyphantis T; Inagaki M; Jetté N; Khamseh ME; Kiely KM; Kwan Y; Lamers F; Liu SI; Lotrakul M; Loureiro SR; Löwe B; McGuire A; Mohd-Sidik S; Munhoz TN; Muramatsu K; Osório FL; Patel V; Pence BW; Persoons P; Picardi A; Reuter K; Rooney AG; Santos IS; Shaaban J; Sidebottom A; Simning A; Stafford L; Sung S; Tan PLL; Turner A; van Weert HC; White J; Whooley MA; Winkley K; Yamada M; Benedetti A; Thombs BD; | 31298180 LIBRARY |
| 17 | Diagnostic accuracy of the Depression subscale of the Hospital Anxiety and Depression Scale (HADS-D) for detecting major depression: protocol for a systematic review and individual patient data meta-analyses. | Thombs BD, Benedetti A, Kloda LA, Levis B, Azar M, Riehm KE, Saadat N, Cuijpers P, Gilbody S, Ioannidis JP, McMillan D, Patten SB, Shrier I, Steele RJ, Ziegelstein RC, Loiselle CG, Henry M, Ismail Z, Mitchell N, Tonelli M | 27075844 LIBRARY |
| Title: | Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance | ||||
| Authors: | Muffels IJJ, Waterham HR, D', Alessandro G, Zagnoli-Vieira G, Sacher M, Lefeber DJ, Van der Vinne C, Roifman CM, Gassen KLI, Rehmann H, Van Haaften-Visser DY, Nieuwenhuis ESS, Jackson SP, Fuchs SA, Wijk F, van Hasselt P | ||||
| Link: | https://pubmed.ncbi.nlm.nih.gov/39920830/ | ||||
| DOI: | 10.1186/s13073-025-01433-9 | ||||
| Publication: | Genome medicine | ||||
| Keywords: | DNA damage repair defect; Functional genomics; Genetic diseases; High-throughput screening; Imaging flow cytometry; Metabolic disorders; Precision genomic diagnostics; Variant of uncertain significance; | ||||
| PMID: | 39920830 | Category: | Date Added: | 2025-02-08 | |
| Dept Affiliation: |
BIOLOGY
1 Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands. i.j.j.muffels-2@umcutrecht.nl. 2 United For Metabolic Diseases (UMD), Amsterdam, the Netherlands. 3 Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC - AMC, Amsterdam, the Netherlands. 4 Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK. 5 The Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, UK. 6 Department of Biology, Concordia University, Montreal, QC, Canada. 7 Department of Anatomy and Cell Biology, McGill University, Montreal, QC, Canada. 8 Translational Metabolic Laboratory, Department of Neurology, Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. 9 Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands. 10 The Hospital for Sick Children and Research Institute, The University of Toronto, Toronto, Canada. 11 Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. 12 Department of Energy and Biotechnology, Flensburg University of Applied Sciences, Flensburg, Germany. 13 Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands. 14 Center for Rare Diseases, Erasmus University Medical Center, Rotterdam, the Netherlands. 15 Center for Translational Immunology (CTI), University Medical Center Utrecht (UMC), Utrecht University (UU), Utrecht, The Netherlands. 16 Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands. p.vanhasselt@umcutrecht.nl. |
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Description: |
Background: Deciphering variants of uncertain significance (VUS) represents a major diagnostic challenge, partially due to the lack of easy-to-use and versatile cellular readouts that aid the interpretation of pathogenicity and pathophysiology. To address this challenge, we propose a high-throughput screening of cellular functionality through an imaging flow cytometry (IFC)-based platform. Methods: Six assays to evaluate autophagic-, lysosomal-, Golgi- health, mitochondrial function, ER stress, and NF-?ß activity were developed in fibroblasts. Assay sensitivity was verified with compounds (N = 5) and positive control patients (N = 6). Eight healthy controls and 20 individuals with VUS were screened. Results: All molecular compounds and positive controls showed significant changes on their cognate assays, confirming assay sensitivity. Simultaneous screening of positive control patients on all six assays revealed distinct phenotypic profiles. In addition, individuals with VUS(es) in well-known disease genes showed distinct - but similar-phenotypic profiles compared to patients with pathogenic variants in the same gene.. For all individuals with VUSes in Genes of Uncertain Significance (GUS), we found one or more of six assays were significantly altered. Broadening the screening to an untargeted approach led to the identification of two clusters that allowed for the recognition of altered cell cycle dynamics and DNA damage repair defects. Experimental follow-up of the 'DNA damage repair defect cluster' led to the discovery of highly specific defects in top2cc release from double-strand DNA breaks in one of these individuals, harboring a VUS in the RAD54L2 gene. Conclusions: Our high-throughput IFC-based platform simplifies the process of identifying VUS pathogenicity through six assays and allows for the recognition of useful pathophysiological markers that structure follow-up experiments, thereby representing a novel valuable tool for precise functional diagnostics in genomics. |
