A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias

Mutational Analysis ◽

Next Generation ◽

Next-Generation Sequencing panel for 1p/19q codeletion and IDH1-IDH2 mutational analysis uncovers mistaken overdiagnoses of 1p/19q codeletion by FISH

Journal of Molecular Diagnostics ◽

10.1016/j.jmoldx.2021.06.004 ◽

2021 ◽

Author(s):

Dario de Biase ◽

Giorgia Acquaviva ◽

Michela Visani ◽

Gianluca Marucci ◽

Antonio De Leo ◽

...

Keyword(s):

Mutational Analysis ◽

Next Generation ◽

Wide spetcrum mutational analysis of metastatic renal cell cancer: a retrospective next generation sequencing approach

Oncotarget ◽

10.18632/oncotarget.12551 ◽

2016 ◽

Vol 8 (5) ◽

pp. 7328-7335 ◽

Cited By ~ 10

Author(s):

Michelangelo Fiorentino ◽

Elisa Gruppioni ◽

Francesco Massari ◽

Francesca Giunchi ◽

Annalisa Altimari ◽

...

Keyword(s):

Renal Cell Cancer ◽

Renal Cell ◽

Mutational Analysis ◽

Cell Cancer ◽

Next Generation ◽

Metastatic Renal Cell Cancer ◽

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

Journal of Applied Genetics ◽

10.1007/s13353-014-0254-5 ◽

2014 ◽

Vol 56 (2) ◽

pp. 193-198 ◽

Cited By ~ 14

Author(s):

Magdalena Ratajska ◽

Magdalena Krygier ◽

Maciej Stukan ◽

Alina Kuźniacka ◽

Magdalena Koczkowska ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Patients ◽

Mutational Analysis ◽

Next Generation ◽

A next generation sequencing based mutational analysis in Duchenne and Becker muscular dystrophy

Journal of the Neurological Sciences ◽

10.1016/j.jns.2017.08.2333 ◽

2017 ◽

Vol 381 ◽

pp. 829

Author(s):

K. Polavarapu ◽

A. Nalini ◽

S. MK ◽

S. Narayan Rao ◽

V. Preethish-Kumar ◽

...

Keyword(s):

Muscular Dystrophy ◽

Mutational Analysis ◽

Becker Muscular Dystrophy ◽

Next Generation ◽

OC.04.5 EUS-FNA FOR KRAS MUTATIONAL ANALYSIS IN PANCREATIC LESIONS, PRELIMINARY RESULTS USING THREE DIFFERENT TECHNIQUES: SANGER SEQUENCING, NEXT GENERATION SEQUENCING AND REAL-TIME PCR

Digestive and Liver Disease ◽

10.1016/s1590-8658(12)60172-8 ◽

2012 ◽

Vol 44 ◽

pp. S65 ◽

Cited By ~ 1

Author(s):

M. Visani ◽

D. De Biase ◽

A.M. Polifemo ◽

C. Fabbri ◽

P. Baccarini ◽

...

Keyword(s):

Real Time ◽

Real Time Pcr ◽

Sanger Sequencing ◽

Mutational Analysis ◽

Next Generation ◽

Preliminary Results ◽

244 MYELOFIBROSIS (MF) AS A PROGNOSTIC TOOL FOR OVERALL SURVIVAL IN MYELODYSPLASTIC SYNDROMES: A PROSPECTIVE EVALUATION INCLUDING MUTATIONAL ANALYSIS BY NEXT GENERATION SEQUENCING (NGS)

Leukemia Research ◽

10.1016/s0145-2126(15)30245-9 ◽

2015 ◽

Vol 39 ◽

pp. S121-S122

Author(s):

F. Ramos ◽

C. Robledo ◽

F. Izquierdo-Garcia ◽

D. Suarez Vilela ◽

R. Benito ◽

...

Keyword(s):

Overall Survival ◽

Myelodysplastic Syndromes ◽

Mutational Analysis ◽

Prospective Evaluation ◽

Next Generation ◽

Prognostic Tool ◽

Next Generation Sequencing Ngs ◽

Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients

Molecular and Cellular Endocrinology ◽

10.1016/j.mce.2021.111489 ◽

2021 ◽

pp. 111489

Author(s):

Jungmin Ahn ◽

Jiyoung Oh ◽

Junghwan Suh ◽

Kyungchul Song ◽

Ahreum Kwon ◽

...

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Short Stature ◽

Pediatric Patients ◽

Mutational Analysis ◽

Idiopathic Short Stature ◽

Hormone Deficiency ◽

Next Generation ◽

Abstract 57: Validation of Next Generation Sequencing technologies in comparison to current diagnostic gold standards for BRAF, EGFR and KRAS mutational analysis.

10.1158/1538-7445.am2013-57 ◽

2013 ◽

Author(s):

Clare McCourt ◽

Perry Maxwell ◽

Mark Catherwood ◽

Manuel Salto-Tellez

Keyword(s):

Mutational Analysis ◽

Next Generation ◽

Sequencing Technologies ◽

Generation Sequencing ◽

Gold Standards

Abstract 5704: Ultrasensitive mutational analysis in cell-freeDNA by targeted next-generation sequencing with molecular tags

10.1158/1538-7445.am2017-5704 ◽

2017 ◽

Author(s):

Nga Wan Rachel Tam ◽

Irmina Diala ◽

Xiaoji Chen ◽

Walter Darbonne

Keyword(s):

Mutational Analysis ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Principles of analytical validation of next-generation sequencing based mutational analysis for hematologic neoplasms in a CLIA-certified laboratory

Expert Review of Molecular Diagnostics ◽

10.1586/14737159.2016.1142374 ◽

2016 ◽

Vol 16 (4) ◽

pp. 461-472 ◽

Cited By ~ 16

Author(s):

Rashmi Kanagal-Shamanna ◽

Rajesh R. Singh ◽

Mark J. Routbort ◽

Keyur P. Patel ◽

L. Jeffrey Medeiros ◽

...

Keyword(s):

Mutational Analysis ◽

Next Generation ◽

Hematologic Neoplasms ◽

Analytical Validation ◽