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Journal of Molecular Diagnostics cover

Journal of Molecular Diagnostics

IF3.4
Papers2237
Citations5259
Journal Papers 9866
Publication Date
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Allele, Diplotype, and Phenotype Frequency Distribution of CYP2B6, CYP2C19, and CYP2D6 in the Han Population in North China
deleteJournal of Molecular Diagnostics
IF3.4
delete2026-03-01
delete0
PREAI
deleteLuan, Yueyao; Sun, Qixuan; Wang, Yiyuan; Tong, Binliang; Duan, Liguang; Wang, Jiaqi; Yan, Yuhang; Chen, Chaoli; Lun, Yang; Yu, Jing; Zhao, Yuanyuan; Zhao, Mengqiang; Zhou, Chunhua
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Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families A Proof-of-Concept Study
deleteJournal of Molecular Diagnostics
IF3.4
delete2026-03-01
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PREAI
deleteWu, Lihua; Lin, Yunqi; Gao, Bo; Zhu, Biyin; Dai, Pu; Huang, Shaopeng
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Validating FISH with RNAseq
deletemolecular diagnostics
IF0
delete2025-09-03
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PREAI
deleteFei Dong
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Evaluation of Atypical FISH Findings by RNA Sequencing
deletemolecular diagnostics
IF0
delete2025-09-01
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PREAI
deleteBeth A. Pitel; Saba Alvand; Mark A. Montanari; Daniel R. Sill; Carlos Sosa; Matthew J. Petersen; Christopher D. Hofich; Ganesh P. Pujari; Reid G. Meyer; Sounak Gupta; William R. Sukov; Jorge Torres-Mora; Kevin C. Halling; Katherine B. Geiersbach
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Analytical and Clinical Evaluation of the AltoStar Adenovirus PCR Kit 1.5 and the AltoStar Automation System AM16 For Adenovirus Detection in Plasma and Stool Samples
deletemolecular diagnostics
IF0
delete2025-09-01
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PREAI
deleteKrupa Jani; Taheefa Stephen; Cindy Lee; Arianna Pinto; Tracy McMillen; June L. Chan; N. Esther Babady
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Solving the :: Fusion Nomenclature Challenge for File and Directory Naming
deletemolecular diagnostics
IF0
delete2025-09-01
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deleteTom Bisson; Stefan Kaluziak; Norman Zerbe; Jochen K. Lennerz
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Clinical Assessment of Next-Generation Sequencing Probe Reproducibility in Short-Read Sequencing (ClinRay) Using Digital Twins
deletemolecular diagnostics
IF0
delete2025-08-25
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PREAI
deleteRohan Gnanaolivu; Neiladri Saha; Noemi Vidal-Folch; Jiayu Tan; Feng Li; Shawn McClelland; Zhiyv Niu; Devin Oglesbee; Chen Wang
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Evaluation of Genomic Proximity Mapping (GPM) for Detecting Genomic and Chromosomal Structural Variants in Constitutional Disorders
deletemolecular diagnostics
IF0
delete2025-08-20
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deleteHe Fang; Stephen M. Eacker; Yu Wu; Cate Paschal; Mary Wood; Brad Nelson; Alexander Muratov; Yajuan Liu
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From expert knowledge to validation resources – a case for using in silico approaches to close the gap in available reference materials for common germline genetic tests
deletemolecular diagnostics
IF0
delete2025-08-20
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PREAI
deleteSomak Roy; Martine W. Tremblay; Edward Lockhart; Swaroop Aradhya; Pinar Bayrak-Toydemir; Mark Bowser; Jeana DaRe; Kristin Gibson; Michael Kennemer; Christopher Krueger; Matt Lebo; Rong Mao; Robert Nussbaum; Brendan O'Fallon; Andrew Rosato; Lisa V. Kalman; Birgit Funke
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High-Specificity Detection of Ultraviolet Mutational Signatures in Circulating Tumor DNA for Diagnostic Classification of Cutaneous and Unknown Primary Tumors using FoundationOne Liquid CDx
deletemolecular diagnostics
IF0
delete2025-08-20
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deleteDouglas A. Mata; Angela A. Kou; Andreas M. Heilmann; Julius Honecker; Benjamin R. Kroger; Thomas Wieland; Erik A. Williams; Soo-Ryum Yang; Jamal K. Benhamida; Chad Vanderbilt; Chelsea Marcus; Irene Shyu; Caleb Ho; Matthew C. Hiemenz; Tyler Janovitz; Ethan S. Sokol; Zoe Fleischmann; Dexter Jin; Ryon P. Graf; Richard A. Hickman; Douglas I. Lin; Pei Ma; Lee A. Albacker; Julie Y. Tse; Lauren L. Ritterhouse; Brennan Decker
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Two-dimensional polymerase chain reaction for identifying the HLA alleles associated with adverse drug reactions
deletemolecular diagnostics
IF0
delete2025-08-20
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PREAI
deleteXueting Zhu; Shuang Yao; Jun Zhang; Lili Pan; Guanghua Luo; Lu Zheng
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A Novel Droplet Digital PCR Assay for BRCA1 and RAD51C Methylation
deletemolecular diagnostics
IF0
delete2025-08-07
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deleteOAAI
deleteCassandra Michel; Alizée Simon; Andréa Witz; Idrissia Hanriot; Julie Dardare; Margaux Betz; Maxime Brun; Pauline Gilson; Jean Louis Merlin; Alexandre Harlé
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Informatics Powering Data to Shape the Future of Molecular Pathology
deletemolecular diagnostics
IF0
delete2025-07-25
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PREAI
deleteAndrea Sboner; Jamal Benhamida; Julie W. Hirschhorn; Robyn L. Temple-Smolkin; Weiwei Zhang; Annette Leon
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Integrating Formalin-Fixed, Paraffin-Embedded–Derived Whole-Genome Sequencing into Routine Molecular Pathology
deletemolecular diagnostics
IF0
delete2025-07-25
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deleteOAAI
deleteCassandra Litchfield; Ronny Nienhold; Andreas Wicki; Michael Schmid; Domingo Aguilera-Garcia; Viktor Hendrik Koelzer; Jan Hendrik Rüschoff; Martin Zoche; Holger Moch; Bettina Sobottka
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Additional Diagnostic Yield through the Analysis of Short Tandem Repeats Based on Exome Sequencing Data
deletemolecular diagnostics
IF0
delete2025-07-23
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PREAI
deleteShiyi Xu; Xiaomei Luo; Bing Xiao; Huili Liu; Ting Xu; Linlin Chen; Tingting Yang; Na Xu; Yanjie Fan; Wenjuan Qiu; Ruifang Wang; Huiwen Zhang; Yanru Chen; Yongguo Yu; Yu Sun
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Microcosting Study of Genomic Profiling for Precision Cancer Medicine Application from the National Infrastructure for Precision Diagnostics in Norway
deletemolecular diagnostics
IF0
delete2025-07-23
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deleteOAAI
deletePia S. Henkel; Eline Aas; Hege G. Russnes; Ingrid Dyvik; G. Live Fagereng; Åslaug Helland; Hanna Røgenes; Tonje G. Lien; Kine Pedersen
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Technical Advance, FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity
deletemolecular diagnostics
IF0
delete2025-07-23
delete0
deleteOAAI
deleteJulius Honecker; Dirk Paffenholz; Julian Jungmann; Thomas Wieland; Angela A. Kou; Soo-Ryum Yang; Chad M. Vanderbilt; Vignesh Shanmugam; Meagan Montesion; Ryon P. Graf; Lee A. Albacker; Douglas I. Lin; Andreas Heilmann; Sotirios Lakis; Richard A. Hickman; Brennan Decker; Alex Robertson; Lauren L. Ritterhouse; Douglas A. Mata
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Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis
deletemolecular diagnostics
IF0
delete2025-07-23
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PREAI
deleteJulie Amiot; Corentin Levacher; Louise May Thibaut; Gwendoline Lienard; Stéphanie Vasseur; Olivier Quenez; Sophie Coutant; Steeve Fourneaux; Françoise Charbonnier; Hugo Thorn; Angélina Legros; Camille Aucouturier; Laurent Castéra; Raphaël Leman; Edwige Kasper; Stéphanie Baert-Desurmont; Sophie Krieger; Philippe Ruminy; Claude Houdayer
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Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine
deletemolecular diagnostics
IF0
delete2025-07-22
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deleteAlexa Dickson; Kelsey R. Cone; Barbara K. Fortini; Jennifer Goldstein; Michelle L. Thompson; Matheus V.M.B. Wilke; Anna C.E. Hurst; Molly C. Schroeder; Katarzyna Polonis; Kevin M. Bowling
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A Systematic, Evidence-Based Workflow for Classifying KMT2A Fusions in Acute Myeloid Leukemia
deletemolecular diagnostics
IF0
delete2025-07-22
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PREAI
deleteLauren M. Petersen; Rachana Sainger; Paulina Sanchez; Jillian Burke; Joshua D. Wemmer; Bradley Patay; Jeffrey E. Miller
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