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Select item 104358431.

Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia

Szilvia Krizsán, Borbála Péterffy, Bálint Egyed, Tibor Nagy, Endre Sebestyén, Lajos László Hegyi, Zsuzsanna Jakab, Dániel J. Erdélyi, Judit Müller, György Péter, Krisztina Csanádi, Krisztián Kállay, Gergely Kriván, Gábor Barna, Gábor Bedics, Irén Haltrich, Gábor Ottóffy, Katalin Csernus, Ágnes Vojcek, Lilla Györgyi Tiszlavicz, Krisztina Mita Gábor, Ágnes Kelemen, Péter Hauser, Zsuzsanna Gaál, István Szegedi, Anikó Ujfalusi, Béla Kajtár, Csongor Kiss, András Matolcsy, Botond Tímár, Gábor Kovács, Donát Alpár, Csaba Bödör

J Mol Diagn. 2023 Aug; 25(8): 555–568. doi: 10.1016/j.jmoldx.2023.04.004

PMCID:: PMC10435843

Article

Select item 104242552.

Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status

Romy Walker, Peter Georgeson, Khalid Mahmood, Jihoon E. Joo, Enes Makalic, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J. Pope, Ryan A. Hutchinson, Kais Kasem, Michael D. Walsh, Finlay A. Macrae, Aung K. Win, John L. Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M. Sieber, Dylan E. O'Sullivan, Darren R. Brenner, Steven Gallinger, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan

J Mol Diagn. 2023 Feb; 25(2): 94–109. doi: 10.1016/j.jmoldx.2022.10.003

PMCID:: PMC10424255

Article PDF–1.9M

Select item 103401143.

Correction

J Mol Diagn. 2023 May; 25(5): 311. doi: 10.1016/j.jmoldx.2023.03.001

Corrects:: J Mol Diagn. 2020 Sep; 22(9): 1205–1215.

PMCID:: PMC10340114

Correction PDF–226K

Select item 101491444.

Table of Contents

J Mol Diagn. 2022 May; 24(5): A5–A6. Published online 2022 May 12. doi: 10.1016/S1525-1578(22)00086-1

PMCID:: PMC10149144

Abstract PDF–169K

Select item 100658285.

Table of Contents

J Mol Diagn. 2022 Apr; 24(4): A5–A6. Published online 2022 Mar 29. doi: 10.1016/S1525-1578(22)00051-4

PMCID:: PMC10065828

Abstract PDF–167K

Select item 98305326.

Feasibility, Ease-of-Use, and Operational Characteristics of World Health Organization–Recommended Moderate-Complexity Automated Nucleic Acid Amplification Tests for the Detection of Tuberculosis and Resistance to Rifampicin and Isoniazid

Anura David, Margaretha de Vos, Lesley Scott, Pedro da Silva, Andre Trollip, Morten Ruhwald, Samuel Schumacher, Wendy Stevens

J Mol Diagn. 2023 Jan; 25(1): 46–56. doi: 10.1016/j.jmoldx.2022.10.001

PMCID:: PMC9830532

Article PDF–767K

Select item 98085037.

Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory

Kelly E. Craven, Catherine G. Fischer, LiQun Jiang, Aparna Pallavajjala, Ming-Tseh Lin, James R. Eshleman

J Mol Diagn. 2022 Dec; 24(12): 1217–1231. doi: 10.1016/j.jmoldx.2022.08.006

PMCID:: PMC9808503

Article PDF–2.7M

Select item 98085008.

TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase

Victoria M. Pratt, Larisa H. Cavallari, Makenzie L. Fulmer, Andrea Gaedigk, Houda Hachad, Yuan Ji, Lisa V. Kalman, Reynold C. Ly, Ann M. Moyer, Stuart A. Scott, R.H.N. van Schaik, Michelle Whirl-Carrillo, Karen E. Weck

J Mol Diagn. 2022 Oct; 24(10): 1051–1063. doi: 10.1016/j.jmoldx.2022.06.007

PMCID:: PMC9808500

Article PDF–1.0M

Select item 97463169.

Modified Taq DNA Polymerase for Allele-Specific Ultra-Sensitive Detection of Genetic Variants

Youngshin Lim, Il-Hyun Park, Huy-Ho Lee, Kyuwon Baek, Byung-Chul Lee, Ginam Cho

J Mol Diagn. 2022 Nov; 24(11): 1128–1142. doi: 10.1016/j.jmoldx.2022.08.002

PMCID:: PMC9746316

Article PDF–2.8M

Select item 971191410.

Table of Contents

J Mol Diagn. 2021 Dec; 23(12): A5–A7. Published online 2021 Nov 25. doi: 10.1016/S1525-1578(21)00336-6

PMCID:: PMC9711914

Abstract PDF–168K

Select item 966771111.

Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia

Chih-Hsiang Yu, Gang Wu, Chia-Ching Chang, Shiann-Tarng Jou, Meng-Yao Lu, Kai-Hsin Lin, Shu-Huey Chen, Kang-Hsi Wu, Fang-Liang Huang, Chao-Neng Cheng, Hsiu-Hao Chang, Dale Hedges, Jinn-Li Wang, Hsiu-Ju Yen, Meng-Ju Li, Shu-Wei Chou, Chen-Ting Hung, Ze-Shiang Lin, Chien-Yu Lin, Hsuan-Yu Chen, Yu-Ling Ni, Yin-Chen Hsu, Dong-Tsamn Lin, Shu-Wha Lin, Jun J. Yang, Ching-Hon Pui, Sung-Liang Yu, Yung-Li Yang

J Mol Diagn. 2022 Nov; 24(11): 1195–1206. doi: 10.1016/j.jmoldx.2022.08.001

PMCID:: PMC9667711

Article PDF–1.3M

Select item 964171712.

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project

Thomas W. Prior, Pinar Bayrak-Toydemir, Ty C. Lynnes, Rong Mao, James D. Metcalf, Kasinathan Muralidharan, Aiko Iwata-Otsubo, Ha T. Pham, Victoria M. Pratt, Shumaila Qureshi, Deborah Requesens, Junqing Shen, Francesco Vetrini, Lisa Kalman

J Mol Diagn. Author manuscript; available in PMC 2022 Nov 8.

Published in final edited form as: J Mol Diagn. 2021 Jan; 23(1): 103–110. Published online 2020 Nov 14. doi: 10.1016/j.jmoldx.2020.10.011

PMCID:: PMC9641717

Article PDF–95K

Select item 955481613.

Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project

Victoria M. Pratt, Wendy Y. Wang, Erin C. Boone, Ulrich Broeckel, Neal Cody, Lisa Edelmann, Andrea Gaedigk, Ty C. Lynnes, Elizabeth B. Medeiros, Ann M. Moyer, Matthew W. Mitchell, Stuart A. Scott, Petr Starostik, Amy Turner, Lisa V. Kalman

J Mol Diagn. 2022 Oct; 24(10): 1079–1088. doi: 10.1016/j.jmoldx.2022.06.008

PMCID:: PMC9554816

Article PDF–1.0M

Select item 929033614.

Clinical Performance Characteristics of the Swift Normalase Amplicon Panel for Sensitive Recovery of Severe Acute Respiratory Syndrome Coronavirus 2 Genomes

Lasata Shrestha, Michelle J. Lin, Hong Xie, Margaret G. Mills, Shah A. Mohamed Bakhash, Vinod P. Gaur, Robert J. Livingston, Jared Castor, Emily A. Bruce, Jason W. Botten, Meei-Li Huang, Keith R. Jerome, Alexander L. Greninger, Pavitra Roychoudhury

J Mol Diagn. 2022 Sep; 24(9): 963–976. doi: 10.1016/j.jmoldx.2022.05.007

PMCID:: PMC9290336

Article PDF–2.1M

Select item 937966815.

Analytical Validation and Performance Characteristics of Molecular Serum Biomarkers, miR-371a-3p and miR-372-3p, for Male Germ Cell Tumors, in a Clinical Laboratory Setting

Fei Ye, Darren R. Feldman, Alisa Valentino, Rachel So, Maria Bromberg, Shah Khan, Samuel A. Funt, Joel Sheinfeld, David B. Solit, Melissa S. Pessin, Ellinor I. Peerschke

J Mol Diagn. 2022 Aug; 24(8): 867–877. doi: 10.1016/j.jmoldx.2022.04.007

PMCID:: PMC9379668

Article PDF–774K

Select item 930220516.

A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels

Raghu Chandramohan, Jacquelyn Reuther, Ilavarasi Gandhi, Horatiu Voicu, Karla R. Alvarez, Sharon E. Plon, Dolores H. Lopez-Terrada, Kevin E. Fisher, D. Williams Parsons, Angshumoy Roy

J Mol Diagn. 2022 Jul; 24(7): 760–774. doi: 10.1016/j.jmoldx.2022.03.011

PMCID:: PMC9302205

Article PDF–2.1M

Select item 906710517.

RT-PCR/MALDI-TOF Diagnostic Target Performance Reflects Circulating SARS-CoV-2 Variant Diversity in New York City

Matthew M. Hernandez, Radhika Banu, Ana S. Gonzalez-Reiche, Brandon Gray, Paras Shrestha, Liyong Cao, Feng Chen, Huanzhi Shi, Ayman Hanna, Juan David Ramírez, Adriana van de Guchte, Robert Sebra, Melissa R. Gitman, Michael D. Nowak, Carlos Cordon-Cardo, Ted E. Schutzbank, Viviana Simon, Harm van Bakel, Emilia Mia Sordillo, Alberto E. Paniz-Mondolfi, Mount Sinai PSP Study Group

J Mol Diagn. 2022 Jul; 24(7): 738–749. doi: 10.1016/j.jmoldx.2022.04.003

PMCID:: PMC9067105

Article PDF–2.7M

Select item 922800118.

Epigenome-Wide DNA Methylation Profiling of Normal Mucosa Reveals HLA-F Hypermethylation as a Biomarker Candidate for Serrated Polyposis Syndrome

Gerhard Jung, Eva Hernández-Illán, Juan J. Lozano, Julia Sidorova, Jenifer Muñoz, Yasuyuki Okada, Enrique Quintero, Goretti Hernandez, Rodrigo Jover, Sabela Carballal, Miriam Cuatrecasas, Lorena Moreno, Mireia Diaz, Teresa Ocaña, Ariadna Sánchez, Liseth Rivero, Oswaldo Ortiz, Joan Llach, Antoni Castells, Maria Pellisé, Ajay Goel, Eduard Batlle, Francesc Balaguer

J Mol Diagn. 2022 Jun; 24(6): 674–686. doi: 10.1016/j.jmoldx.2022.03.010

PMCID:: PMC9228001

Article PDF–1.7M

Select item 922798819.

Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing

Reynold C. Ly, Tyler Shugg, Ryan Ratcliff, Wilberforce Osei, Ty C. Lynnes, Victoria M. Pratt, Bryan P. Schneider, Milan Radovich, Steven M. Bray, Benjamin A. Salisbury, Baiju Parikh, S. Cenk Sahinalp, Ibrahim Numanagić, Todd C. Skaar

J Mol Diagn. 2022 Jun; 24(6): 576–585. doi: 10.1016/j.jmoldx.2022.03.008

PMCID:: PMC9227988

Article PDF–702K

Select item 912746020.

Fragment Size-Based Enrichment of Viral Sequences in Plasma Cell-Free DNA

Quynh Phung, Michelle J. Lin, Hong Xie, Alexander L. Greninger

J Mol Diagn. 2022 May; 24(5): 476–484. doi: 10.1016/j.jmoldx.2022.01.007

PMCID:: PMC9127460

Article PDF–787K

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