Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

V. C. Leo; N. V. Morgan; D. Bem; M. L. Jones; G. C. Lowe; M. Lordkipanidzé; S. Drake; M. A. Simpson; P. Gissen; A. Mumford; S. P. Watson; M. E. Daly;

doi:10.1111/jth.12836

Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

Journal of Thrombosis and Haemostasis ◽

10.1111/jth.12836 ◽

2015 ◽

Vol 13 (4) ◽

pp. 643-650 ◽

Cited By ~ 38

Author(s):

V. C. Leo ◽

N. V. Morgan ◽

D. Bem ◽

M. L. Jones ◽

G. C. Lowe ◽

...

Keyword(s):

Next Generation Sequencing ◽

Candidate Gene ◽

Platelet Function ◽

Gene Analysis ◽

Next Generation ◽

Candidate Gene Analysis ◽

Platelet Function Disorders ◽

Generation Sequencing

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Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome

Journal of Thrombosis and Haemostasis ◽

10.1111/j.1538-7836.2011.04569.x ◽

2012 ◽

Vol 10 (2) ◽

pp. 306-309 ◽

Cited By ~ 21

Author(s):

M. L. JONES ◽

S. L. MURDEN ◽

D. BEM ◽

S. J. MUNDELL ◽

P. GISSEN ◽

...

Keyword(s):

Next Generation Sequencing ◽

Platelet Function ◽

Genetic Diagnosis ◽

Next Generation ◽

Platelet Function Disorders ◽

Hermansky Pudlak Syndrome ◽

Generation Sequencing ◽

Proof Of Principle

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Real‐world utility of next‐generation sequencing for targeted gene analysis and its application to treatment in lung adenocarcinoma

Cancer Medicine ◽

10.1002/cam4.3874 ◽

2021 ◽

Author(s):

Jwa Hoon Kim ◽

Shinkyo Yoon ◽

Dae Ho Lee ◽

Se Jin Jang ◽

Sung‐Min Chun ◽

...

Keyword(s):

Next Generation Sequencing ◽

Lung Adenocarcinoma ◽

Real World ◽

Gene Analysis ◽

Next Generation ◽

Generation Sequencing

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Next-Generation Sequencing for Single-Gene Analysis

Genomic Applications in Pathology ◽

10.1007/978-3-319-96830-8_15 ◽

2018 ◽

pp. 183-190

Author(s):

Hao Ho ◽

Christopher D. Gocke

Keyword(s):

Next Generation Sequencing ◽

Single Gene ◽

Gene Analysis ◽

Next Generation ◽

Generation Sequencing

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Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

Journal of Clinical Bioinformatics ◽

10.1186/2043-9113-2-19 ◽

2012 ◽

Vol 2 (1) ◽

pp. 19 ◽

Cited By ~ 13

Author(s):

Andrew Stubbs ◽

Elizabeth A McClellan ◽

Sebastiaan Horsman ◽

Saskia D Hiltemann ◽

Ivo Palli ◽

...

Keyword(s):

Next Generation Sequencing ◽

Candidate Gene ◽

Gene Selection ◽

Web Server ◽

Whole Genome ◽

Next Generation ◽

Allelic Frequencies ◽

Generation Sequencing

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NS5A gene analysis by next generation sequencing in HCV nosocomial transmission clusters of HCV genotype 1b infected patients

Digestive and Liver Disease ◽

10.1016/j.dld.2018.11.153 ◽

2019 ◽

Vol 51 ◽

pp. e62

Author(s):

M.C. Bellocchi ◽

L. Carioti ◽

M. Aragri ◽

L. Fabeni ◽

R. Pipitone ◽

...

Keyword(s):

Next Generation Sequencing ◽

Gene Analysis ◽

Nosocomial Transmission ◽

Next Generation ◽

Hcv Genotype ◽

Genotype 1B ◽

Generation Sequencing

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P5 Clinical pathologic association with breast cancer gene analysis through next generation sequencing

The Breast ◽

10.1016/j.breast.2020.01.019 ◽

2020 ◽

Vol 50 ◽

pp. 156

Author(s):

Sung-ui Jung

Keyword(s):

Breast Cancer ◽

Next Generation Sequencing ◽

Gene Analysis ◽

Cancer Gene ◽

Next Generation ◽

Generation Sequencing ◽

Breast Cancer Gene

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Targeted next generation sequencing for CFTR gene analysis in a Brazilian cohort of cystic fibrosis patients

Anais do VI Seminário Anual Científico e Tecnológico de Bio-Manguinhos ◽

10.35259/isi.sact.2018_27285 ◽

2018 ◽

Author(s):

Amanda Coelho ◽

Mário Campos Junior ◽

Verônica Zembrzuski ◽

Pedro Cabello ◽

Giselda Cabello

Keyword(s):

Cystic Fibrosis ◽

Next Generation Sequencing ◽

Gene Analysis ◽

Cftr Gene ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Brazilian Cohort ◽

Generation Sequencing

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Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing

Molecular and Cellular Probes ◽

10.1016/j.mcp.2015.05.008 ◽

2015 ◽

Vol 29 (5) ◽

pp. 299-307 ◽

Cited By ~ 17

Author(s):

C. Knopp ◽

S. Rudnik-Schöneborn ◽

T. Eggermann ◽

C. Bergmann ◽

M. Begemann ◽

...

Keyword(s):

Next Generation Sequencing ◽

Single Gene ◽

Gene Analysis ◽

Next Generation ◽

Snp Arrays ◽

Generation Sequencing

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Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

BMC Medical Genetics ◽

10.1186/s12881-019-0794-y ◽

2019 ◽

Vol 20 (1) ◽

Cited By ~ 2

Author(s):

Huifang Yan ◽

Zhen Shi ◽

Ye Wu ◽

Jiangxi Xiao ◽

Qiang Gu ◽

...

Keyword(s):

Intellectual Disability ◽

Next Generation Sequencing ◽

Candidate Gene ◽

Developmental Delay ◽

Chinese Patients ◽

Next Generation ◽

Novel Mutations ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Genetic landscape of preterm birth due to cervical insufficiency: Comprehensive gene analysis and patient next-generation sequencing data interpretation

PLoS ONE ◽

10.1371/journal.pone.0230771 ◽

2020 ◽

Vol 15 (3) ◽

pp. e0230771 ◽

Cited By ~ 3

Author(s):

Ludmila Volozonoka ◽

Dmitrijs Rots ◽

Inga Kempa ◽

Anna Kornete ◽

Dace Rezeberga ◽

...

Keyword(s):

Preterm Birth ◽

Next Generation Sequencing ◽

Data Interpretation ◽

Gene Analysis ◽

Next Generation Sequencing Data ◽

Cervical Insufficiency ◽

Next Generation ◽

Sequencing Data ◽

Genetic Landscape ◽

Generation Sequencing

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