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Next-generation sequencing

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

Alejandro García-Castaño, Leire Madariaga, [ ... ], Sonia Gaztambide

Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay

Pin Lyu, Kyung Whan Yoo, [ ... ], Baisong Lu

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

Borut Peterlin, Francesca Gualandi, [ ... ], Alessandra Ferlini

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

Rowida Almomani, Margherita Marchi, [ ... ], on behalf on the PROPANE Study Group

A genetic analysis of a Spanish population with early onset Parkinson’s disease

Tejera-Parrado Cristina, Mir Pablo, [ ... ], Pilar Gómez-Garre

The clinical significance of stringent complete response in multiple myeloma is surpassed by minimal residual disease measurements

Maria-Teresa Cedena, Estela Martin-Clavero, [ ... ], Joaquin Martinez-Lopez

Medical oncologists’ perspectives of the Veterans Affairs National Precision Oncology Program

Vishal Vashistha, Pradeep J. Poonnen, [ ... ], Vimla L. Patel

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis

Lena Obeidova, Tomas Seeman, [ ... ], Jitka Stekrova

Detection of hepatitis B virus pre-S mutants in plasma by a next-generation sequencing-based platform determines their patterns in liver tissues

Chiao-Fang Teng, Hung-Wen Tsai, [ ... ], Long-Bin Jeng

Integrative analysis of gene expression and alternative splicing in microalgae grown under heterotrophic condition

Bahman Panahi, Mohammad Amin Hejazi

Outcomes in oncogenic-addicted advanced NSCLC patients with actionable mutations identified by liquid biopsy genomic profiling using a tagged amplicon-based NGS assay

Jordi Remon, Aurelie Swalduz, [ ... ], Benjamin Besse

Liquid biopsy-based tumor profiling for metastatic colorectal cancer patients with ultra-deep targeted sequencing

Jun-Kyu Kang, Sunghoon Heo, [ ... ], Tae-You Kim

Selection and exploitation of prevalent, tandemly repeated genomic targets for improved real-time PCR-based detection of Wuchereria bancrofti and Plasmodium falciparum in mosquitoes

Michael F. Zulch, Nils Pilotte, [ ... ], Steven A. Williams

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