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OALib Journal期刊
ISSN: 2333-9721
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The Journal of Molecular Diagnostics
ISSN Print: 1525-1578
ISSN Online:
主页:
https://jmd.amjpathol.org/issues
分享:
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Editorial Board
Accurate Typing of Human Leukocyte Antigen Class I Genes by Oxford Nanopore Sequencing
Brian Duffy
,
Chang Liu
,
Fangzhou Xiao
,
Jessica Hoisington-Lopez
,
Kathrin Lang
,
Philipp Quenzel
,
Robi D. Mitra
System for Informatics in the Molecular Pathology Laboratory: An Open-Source End-to-End Solution for Next-Generation Sequencing Clinical Data Management
Bekim Ameti
,
Bradley C. Long
,
Carolyn A. Lawrence
,
Carrie Fitzpatrick
,
Chao Jie Zhen
,
Crystal Iracheta
,
Daisy Lopez
,
Dara L. Aisner
,
David Montes
,
Filipo Galbo
,
Ibro Mujacic
,
Jeremy P. Segal
,
Jorge Andrade
,
Larissa V. Furtado
,
Lauren L. Ritterhouse
,
Megan E. McNerney
,
Michael Yourshaw
,
Michelle N. Wurst
,
Nifang Niu
,
Rutika Puranik
,
Sabah Kadri
,
Samuel L. Volchenboum
,
Sonia Benhamed
,
Sushant A. Patil
,
Venessa L. Gamboa
,
Wenjun Kang
,
Y. Lynn Wang
Validity of Targeted Next-Generation Sequencing in Routine Care for Identifying Clinically Relevant Molecular Profiles in Non–Small-Cell Lung Cancer: Results of a 2-Year Experience on 1343 Samples
Alain Cazier
,
Alice Guyard
,
Anne Tallet
,
Antoine Legras
,
Bastien Rance
,
Catherine Julie
,
Elizabeth Fabre
,
Etienne Giroux-Leprieur
,
Fran?oise Le Pimpec-Barthes
,
Hélène Blons
,
Jean Pastre
,
Laure Gibault
,
Marc Barritault
,
Nicolas Pecuchet
,
Pierre Laurent-Puig
,
Stéphane Jouveshomme
,
Véronique Duchatelle
,
Véronique Giraudet
,
William Digan
Table of Contents
An In-Depth Evaluation of the Validity and Logistics Surrounding the Testing of AR-V7 mRNA Expression in Circulating Tumor Cells
Anieta M. Sieuwerts
,
Bianca Mostert
,
Bram De Laere
,
Corine M. Beaufort
,
Hans M. Westgeest
,
Jaco Kraan
,
John W.M. Martens
,
Luc Y. Dirix
,
Mai Van
,
Martijn P. Lolkema
,
Metin Tascilar
,
Michelle van der Vlugt-Daane
,
Nick Beije
,
Paul Hamberg
,
Ron H.J. Mathijssen
,
Ronald de Wit
,
Stefan Sleijfer
,
Wendy J.C. Prager
,
Wendy Onstenk
Rapid, Loop-Mediated Isothermal Amplification Detection of Celiac Disease Risk Alleles
Efstratios Skafidas
,
Jason A. Tye-Din
,
Michael D. Varney
,
Michael Erlichster
,
Patrick Kwan
High-Throughput Copy Number Profiling by Digital Multiplex Ligation-Dependent Probe Amplification in Multiple Myeloma
Ambrus Gángó
,
András Matolcsy
,
Béla Kajtár
,
Csaba B?d?r
,
Donát Alpár
,
Karel de Groot
,
Károly Szuhai
,
Lilit Atanesyan
,
László Pajor
,
Maryvonne Steenkamer
,
Pál Jáksó
,
Richárd Kiss
,
Suvi Savola
,
Szabolcs Kosztolányi
Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection
Charles Van Goethem
,
Julie A. Vendrell
,
Jér?me Solassol
,
Marion Larrieux
,
Paul Vilquin
Noninvasive Molecular Monitoring in Multiple Myeloma Patients Using Cell-Free Tumor DNA: A Pilot Study
Antonio Vendramin
,
Cristiana Carniti
,
Giulia Biancon
,
Paolo Corradini
,
Silvia Gimondi
Next-Generation Sequencing Using S1 Nuclease for Poor-Quality Formalin-Fixed, Paraffin-Embedded Tumor Specimens
Chang Ohk Sung
,
Deokhoon Kim
,
Hwan Park
,
Hyejoon Jeon
,
Ji-Young Lee
,
Se Jin Jang
,
Sung-Min Chun
,
Tae-Im Kim
,
Yujin Kim
SNPitty: An Intuitive Web Application for Interactive B-Allele Frequency and Copy Number Visualization of Next-Generation Sequencing Data
Erwin Brosens
,
Guido Jenster
,
Harmen J.G. van de Werken
,
Hendrikus J. Dubbink
,
Job van Riet
,
John W.M. Martens
,
Leendert H. Looijenga
,
Maurice P.H.M. Jansen
,
Niels M.G. Krol
,
Peggy N. Atmodimedjo
,
Wilfred. F.J. van IJcken
,
Winand N.M. Dinjens
Keeping Practice Recommendations in Step with Advancing Knowledge
Barbara Zehnbauer
Targeted Next-Generation Sequencing Is a Sensitive Tool for Differential Diagnosis of Myelodysplastic Syndromes in Bone Marrow Trephines
Alexander Brobeil
,
Andreas Br?uninger
,
Andreas K?bisch
,
Ann-Kathrin Desch
,
Benjamin Etschmann
,
Dieter K?rholz
,
Georg Schliesser
,
Kristin Kunze
,
Mathias Rummel
,
Mehmet K. Tur
,
Michael Kiehl
,
Stefan Gattenl?hner
,
Ulrich Günther
,
Wolfgang Blau
Chimerism Analysis in the Pediatric Setting: Direct PCR from Bone Marrow, Whole Blood, and Cell Fractions
Alistair Shaw
,
Charizel Villanueva
,
Lana Mhaldien
,
Paul Veys
,
Rozendo Fernandes
,
Stuart Adams
,
Susanne Kricke
Disclosure Statement
Electric Field–Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment
Charles M. Strom
,
Chien-Chung Lin
,
Ching-Yun Hsu
,
David Chia
,
David Elashoff
,
David T.W. Wong
,
Fang Wei
,
Feng Li
,
Guy W. Soo Hoo
,
Jordan Cheng
,
Michael Tu
,
Rena Xian
,
Tristan Grognan
,
Wayne W. Grody
,
Wei Liao
,
Wu-Chou Su
,
Yong Kim
The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel
Ahmad N. Abou Tayoun
,
Jorune Balciuniene
,
Mahdi Sarmady
,
Michael A. Gonzalez
,
Perry Evans
,
Rojeen Niazi
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis
Charles Van Goethem
,
Charly Mathieu
,
David Baux
,
Delphine Lacourt
,
Gisele Bonne
,
Henri Pegeot
,
Kevin Yauy
,
Martin Krahn
,
Michel Koenig
,
Mireille Cossée
,
Raul Juntas Morales
,
Sylvie Tuffery-Giraud
,
Thomas Guignard
,
Vilma-Lotta Lehtokari
Instructions to Authors
Authors' Reply
Anas Younes
,
Apostolia M. Tsimberidou
,
Cindy L. Vnencak-Jones
,
Daynna J. Wolff
,
Eric J. Duncavage
,
Marilyn M. Li
,
Marina N. Nikiforova
,
Michael Datto
,
Neal I. Lindeman
,
Shashikant Kulkarni
,
Somak Roy
Determining Performance Metrics for Targeted Next-Generation Sequencing Panels Using Reference Materials
Justin M. Zook
,
Marc Salit
,
Megan H. Cleveland
,
Peter M. Vallone
Simple Detection of Telomere Fusions in Pancreatic Cancer, Intraductal Papillary Mucinous Neoplasm, and Pancreatic Cyst Fluid
Anne McGregor-Das
,
Christopher Wolfgang
,
James R. Eshleman
,
Marco Dal Molin
,
Michael Goggins
,
Ralph H. Hruban
,
Tae Jun Song
,
Tatsuo Hata
Plasmodium Detection and Differentiation by Direct-on-Blood PCR Nucleic Acid Lateral Flow Immunoassay: Development, Validation, and Evaluation
Boris Oberheitmann
,
George Omweri
,
Henk D.F.H. Schallig
,
Johanna M. Roth
,
Laura de Bes
,
Patrick Sawa
,
Pètra F. Mens
,
Victor Osoti
Identification of Enteric Viruses in Oral Swabs from Children with Acute Gastroenteritis
Bonita E. Lee
,
Brendon D. Parsons
,
Bryanne Crago
,
Linda Chui
,
Marie Louie
,
Ran Zhuo
,
Samina Ali
,
Stephen B. Freedman
,
Steven J. Drews
,
Xiaoli Pang
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection
Anna Laura Putignano
,
Francesca Gensini
,
Gabriele Lorenzo Capone
,
Irene De Rienzo
,
Irene Paganini
,
Laura Papi
,
Roberta Sestini
,
Sharon Trujillo Saavedra
,
null
Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene
Glynis Frans
,
Isabelle Meyts
,
Joris R. Vermeesch
,
Jutte Van der Werff Ten Bosch
,
Matthew S. Hestand
,
Wim Meert
,
Xavier Bossuyt
Table of Contents
Authors’ Reply
Ahmad Abdel Sater
,
Caroline Bérard
,
Corinne Haioun
,
Elodie Bohers
,
Fabrice Jardin
,
Fanny Drieux
,
Gilles Salles
,
Hervé Tilly
,
Jean-Michel Picquenot
,
Jean-Philippe Jais
,
Karen Leroy
,
Liana Veresezan
,
Martin Figeac
,
Philippe Ruminy
,
Pierre-Julien Viailly
,
Sydney Dubois
,
Sylvain Mareschal
,
Thierry J. Molina
,
Victor Bobée
,
Vinciane Marchand
Reviewer Acknowledgment
The History and Impact of Molecular Coding Changes on Coverage and Reimbursement of Molecular Diagnostic Tests: Transition from Stacking Codes to the Current Molecular Code Set Including Genomic Sequencing Procedures
Anthony N. Sireci
,
Mahesh M. Mansukhani
,
Melissa C. Carter
,
Susan J. Hsiao
Droplet Digital PCR for Mutation Detection in Formalin-Fixed, Paraffin-Embedded Melanoma Tissues: A Comparison with Sanger Sequencing and Pyrosequencing
Alexander J. Spicer
,
Ashleigh C. McEvoy
,
Benhur Amanuel
,
Benjamin A. Wood
,
Cleo Robinson
,
Elin S. Gray
,
Fabienne Grieu-Iacopetta
,
Lester Cowell
,
Melanie Ziman
,
Michelle R. Pereira
,
Nima M. Ardakani
,
Robert Pearce
GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions
Andrea Dardis
,
Bruno Bembi
,
Silvia Cattarossi
,
Stefania Zampieri
Molecular Analysis of Circulating Cell-Free DNA from Lung Cancer Patients in Routine Laboratory Practice: A Cross-Platform Comparison of Three Different Molecular Methods for Mutation Detection
Britta Hasemeier
,
Elisa Schipper
,
Hans Kreipe
,
Sascha Persing
,
Stephan Bartels
,
null
Comparative Study and Analytical Verification of PCR Methods for the Diagnosis of Congenital Chagas Disease
Carolina I. Cura
,
Constanza Lopez-Albízu
,
Juan C. Ramírez
,
Karenina Scollo
,
Lucía Irazu
,
Marcelo Rodríguez
,
Sergio Sosa-Estani
Validation of a Targeted RNA Sequencing Assay for Kinase Fusion Detection in Solid Tumors
Aharon G. Freud
,
Amy Smith
,
Dara L. Aisner
,
Dorrelyn Martin
,
Eliot Zhu
,
Eric Samorodnitsky
,
Esko A. Kautto
,
Ezra Lyon
,
Hannah Parks
,
Jharna Miya
,
Joseph Gozgit
,
Joshua Coleman
,
Julie W. Reeser
,
Karan R. Naik
,
Kurtis D. Davies
,
Lianbo Yu
,
Marileila Varella-Garcia
,
Matthew Reeder
,
Michele R. Wing
,
Nicholas Nowacki
,
Sameek Roychowdhury
Correction
Identification of NTRK3 Fusions in Childhood Melanocytic Neoplasms
Jiajing Wang
,
Kerry Mullaney
,
Klaus J. Busam
,
Long Cao
,
Lu Wang
,
Mamta Rao
,
Marc Ladanyi
,
Meera Hameed
,
Robert Cimera
,
Ruth Aryeequaye
,
Ryan Denley
,
Ryma Benayed
Detection of Aberrant TERT Promoter Methylation by Combined Bisulfite Restriction Enzyme Analysis for Cancer Diagnosis
Armita Bahrami
,
Seungjae Lee
,
Sumit Borah
A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology
Alice Biffignandi
,
Carla Colombo
,
Carlo Corbetta
,
Erminio Torresani
,
Lucy Costantino
,
Luigi Porcaro
,
Luisella Alberti
,
Manuela Seia
,
Marco Lucarelli
,
Sabina Maria Bruno
,
Valentina Giannone
Table of Contents
The Effect of Nucleic Acid Extraction Platforms and Sample Storage on the Integrity of Viral RNA for Use in Whole Genome Sequencing
Andrew Bell
,
Carmen Manso
,
Daniel Bailey
,
David Wooldridge
,
Kuiama Lewandowski
,
Nicola Hennessy
,
Richard Vipond
,
Rory Miles
,
Saheer Gharbia
,
Simon Carne
,
Steven T. Pullan
Methodologic Considerations in the Application of Next-Generation Sequencing of Human TRB Repertoires for Clinical Use
Bing M. Zhang
,
Everett Meyer
,
James L. Zehnder
,
Liwen Xu
,
Philip Lavori
,
PingPing Zheng
,
Puja K. Gupta
,
Xiaoqing You
In Silico Proficiency Testing for Clinical Next-Generation Sequencing
Eric J. Duncavage
,
Haley J. Abel
,
John D. Pfeifer
Application of Single-Molecule Amplification and Resequencing Technology for Broad Surveillance of Plasma Mutations in Patients with Advanced Lung Adenocarcinoma
Chang Liu
,
David S. Cram
,
Di Cui
,
Dongge Liu
,
Gang Cheng
,
Jing Di
,
Li Yang
,
Li Zhang
,
Lingyun Ma
,
Xiaohong Han
,
Xinlin Mu
,
Yuankai Shi
,
Yuhui Zhang
,
Zaiwen Fan
,
Zheng Wang
Improved Assays for AGG Interruptions in Fragile X Premutation Carriers
Bruce E. Hayward
,
Karen Usdin
Characterization and Genomic Localization of a SMAD4 Processed Pseudogene
Agne Antanaviciute
,
Alexander F. Markham
,
Christopher M. Watson
,
David T. Bonthron
,
Ian M. Carr
,
Julian Adlard
,
Laura A. Crinnion
,
Nick Camm
,
Ruth Charlton
High-Throughput and Sensitive Quantification of Circulating Tumor DNA by Microfluidic-Based Multiplex PCR and Next-Generation Sequencing
Anna Cheung
,
Eric Humke
,
Lisa Ryner
,
Mark R. Lackner
,
Nga W.R. Tam
,
Oleg Mayba
,
Richard Bourgon
,
Shan Lu
,
Sundari Sujathasarma
,
Thomas Sandmann
,
Vincent Leveque
,
Walter C. Darbonne
,
Yinghui Guan
,
Younjeong Choi
,
Yulei Wang
Hepatitis C and the Impact of Host Genetics
Linda Cook
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders
Bekim Sadikovic
,
Charles Schwartz
,
Cindy Skinner
,
David Rodenhiser
,
Erfan Aref-Eshghi
,
Guillaume Paré
,
Hanxin Lin
,
Laila C. Schenkel
,
Peter Ainsworth
,
Victoria Siu
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