Molecular Diagnosis & Therapy

Acknowledgement to Referees

• Acknowledgement to Referees

The Role of BEAMing and Digital PCR for Multiplexed Analysis in Molecular Oncology in the Era of Next-Generation Sequencing

• Leading Article

Jérôme Alexandre Denis, Erell Guillerm, Florence Coulet, Annette K. Larsen, Jean-Marc Lacorte

Are the Origins of Precision Medicine Found in the Corpus Hippocraticum?

• Current Opinion

Meropi K. Konstantinidou, Makrina Karaglani, Maria Panagopoulou, Aliki Fiska, Ekaterini Chatzaki

Medullary Thyroid Cancer: Clinical Characteristics and New Insights into Therapeutic Strategies Targeting Tyrosine Kinases

• Review Article

Sadegh Rajabi, Mehdi Hedayati

Pharmacogenetics and Pharmacogenomics of Targeted Therapeutics in Chronic Myeloid Leukemia

• Review Article

Aritro Nath, Jacqueline Wang, R. Stephanie Huang

MicroRNA-21 in Skin Fibrosis: Potential for Diagnosis and Treatment

• Review Article

Yan Li, Juan Zhang, Yuying Lei, Lechun Lyu, Ruiling Zuo, Ting Chen

Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member

• Original Research Article

Meral Topçu, Dilek Aktas, Merih Öztoprak, Neslihan Önenli Mungan, Aysel Yuce, Mehmet Alikasifoglu

Circulating mRNA in Maternal Plasma at the Second Trimester of Pregnancy: A Possible Screening Tool for Cardiac Conotruncal and Left Ventricular Outflow Tract Abnormalities

• Original Research Article

Elena Contro, Lara Stefani, Silvia Berto, Cristina Lapucci, Diego Arcelli, Daniela Prandstraller, Antonella Perolo, Nicola Rizzo, Antonio Farina

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia

• Original Research Article

Mayara Jorgens Prado, Simone Martins de Castro, Cristiane Kopacek, Maricilda Palandi de Mello, Thaiane Rispoli, Tarciana Grandi, Cláudia Maria Dornelles da Silva, Maria Lucia Rosa Rossetti

Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt

• Original Research Article

Rabab E. El Hawary, Safa S. Meshaal, Dalia S. Abd Elaziz, Marwa A. Elsharkawy, Radwa S. Alkady, Sohilla Lotfy, Ahmad El-Sheikhah, Amr Hassan, Nermeen M. Galal, Jeannette A. Boutros, Aisha M. Elmarsafy

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads

• Original Research Article

Christopher M. Watson, Nick Camm, Laura A. Crinnion, Samuel Clokie, Rachel L. Robinson, Julian Adlard, Ruth Charlton, Alexander F. Markham, Ian M. Carr, David T. Bonthron

Comment on: “Comparison of Five Different Assays for the Detection of BRAF Mutations in Formalin-Fixed Paraffin Embedded Tissues of Patients with Metastatic Melanoma”

• Letter to the Editor

Arnaud Uguen

Authors’ Reply to Uguen: “Comparison of Five Different Assays for the Detection of BRAF Mutations in Formalin-Fixed Paraffin Embedded Tissues of Patients with Metastatic Melanoma”

• Letter to the Editor

Alexandre Harlé, Claire Franczak