Clinical application of whole-exome sequencing: A retrospective, single-center study

Experimental and Therapeutic Medicine ◽

10.3892/etm.2021.10185 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Qiang Zhang ◽

Zailong Qin ◽

Shang Yi ◽

Hao Wei ◽

Xun Zhou ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Clinical Application ◽

Single Center ◽

Whole Exome ◽

Single Center Study ◽

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Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience

Molecular Syndromology ◽

10.1159/000505800 ◽

2020 ◽

Vol 11 (1) ◽

pp. 4-14 ◽

Author(s):

Muhsin Elmas ◽

Basak Gogus

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Genetic Diseases ◽

Single Center ◽

Face Analysis ◽

Single Center Experience ◽

Whole Exome ◽

Rare Genetic Diseases

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Clinical Application of Whole-Exome Sequencing

JAMA Neurology ◽

10.1001/jamaneurol.2013.247 ◽

2013 ◽

Vol 70 (6) ◽

pp. 788 ◽

Author(s):

Wendy K. M. Liew ◽

Tawfeg Ben-Omran ◽

Basil T. Darras ◽

Sanjay P. Prabhu ◽

Darryl C. De Vivo ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Clinical Application ◽

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Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus

Mitochondrion ◽

10.1016/j.mito.2014.10.007 ◽

2015 ◽

Vol 20 ◽

pp. 1-6 ◽

Author(s):

Ellen Knierim ◽

Dominik Seelow ◽

Esther Gill ◽

Arpad von Moers ◽

Markus Schuelke

Keyword(s):

Status Epilepticus ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Clinical Application ◽

Brain Atrophy ◽

Axonal Neuropathy ◽

Compound Heterozygous ◽

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CLINICAL APPLICATION OF WHOLE EXOME SEQUENCING IN A CASE OF METASTASISED LOW GRADE SEROUS OVARIAN CANCER

10.26226/morressier.5b6d513c5aff74007b2b482b ◽

2018 ◽

Author(s):

Michael Wilkinson

Keyword(s):

Ovarian Cancer ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Clinical Application ◽

Low Grade ◽

Serous Ovarian Cancer ◽

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The Potential of Whole-Exome Sequencing (WES) in Neuropediatric Patients: Single-Center Experience at the University Hospital Hamburg Eppendorf

Neuropediatrics ◽

10.1055/s-0037-1602920 ◽

2017 ◽

Vol 48 (S 01) ◽

pp. S1-S45

Author(s):

J. Denecke ◽

J. Johannsen ◽

A. Neu ◽

R. Santer ◽

K. Kloth ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

University Hospital ◽

Single Center ◽

Single Center Experience ◽

Whole Exome ◽

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Faculty Opinions recommendation of Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.8295956.793478790 ◽

2013 ◽

Author(s):

John Barnard

Keyword(s):

Inflammatory Bowel Disease ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Clinical Application ◽

Bowel Disease ◽

Definitive Diagnosis ◽

Whole Exome ◽

Inflammatory Bowel

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CLINICAL APPLICATION OF THE QUICK SEPSIS-RELATED ORGAN FAILURE ASSESSMENT IN INTENSIVE CARE UNIT PATIENTS WITH BACTEREMIA: A SINGLE-CENTER STUDY IN KOREA

Respirology ◽

10.1111/resp.13207_99 ◽

2017 ◽

Vol 22 ◽

pp. 122-122

Keyword(s):

Intensive Care Unit ◽

Intensive Care ◽

Organ Failure ◽

Clinical Application ◽

Single Center ◽

Single Center Study ◽

Failure Assessment ◽

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Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center

Gastroenterology ◽

10.1053/j.gastro.2020.02.023 ◽

2020 ◽

Vol 158 (8) ◽

pp. 2208-2220 ◽

Author(s):

Eileen Crowley ◽

Neil Warner ◽

Jie Pan ◽

Sam Khalouei ◽

Abdul Elkadri ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Clinical Features ◽

Inflammatory Bowel Diseases ◽

Single Center ◽

Whole Exome ◽

Bowel Diseases ◽

Inflammatory Bowel

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Single center experience in clinical whole-exome sequencing

Molecular Genetics and Metabolism ◽

10.1016/s1096-7192(21)00306-1 ◽

2021 ◽

Vol 132 ◽

pp. S142

Author(s):

Nour Gazzaz ◽

Stephanie Hyunh ◽

Ashley Moller-Hansen ◽

Brandon Chalazan ◽

Neal Boerkoel ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Single Center ◽

Single Center Experience ◽

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Exome sequencing as the first‐tier test for pediatric respiratory diseases: a single‐center study

Human Mutation ◽

10.1002/humu.24216 ◽

2021 ◽

Author(s):

Chanjuan Hao ◽

Ruolan Guo ◽

Jun Liu ◽

Xuyun Hu ◽

Jun Guo ◽

...

Keyword(s):

Exome Sequencing ◽

Respiratory Diseases ◽

Single Center ◽

Single Center Study ◽

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