The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders-Reference-Cited by-同舟云学术

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The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders

Published:2020-06 Issue:2 Volume:40 Page:121-133
ISSN:0272-2712
Container-title:Clinics in Laboratory Medicine
language:en
Short-container-title:Clinics in Laboratory Medicine

Author:

Stenton Sarah L.,Prokisch Holger

Funder

mitoNet German Network for Mitochondrial Diseases

GENOMIT European Network for Mitochondrial Disease

SOUND (Statistical Multi-Omics Understanding) EU Horizon2020 Collaborative Research Project

PhD Program Medical Life Science and Technology scholarship

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry

Reference68 articles.

1. Clinical assessment incorporating a personal genome;Ashley;Lancet,2010

2. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing;Choi;Proc Natl Acad Sci U S A,2009

3. Exome sequencing identifies the cause of a Mendelian disorder;Ng;Nat Genet,2010

4. International cooperation to enable the diagnosis of all rare genetic diseases;Boycott;Am J Hum Genet,2017

5. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield;Ankala;Ann Neurol,2015

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3. The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation;2024-04-08

4. Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders;Frontiers in Cell and Developmental Biology;2023-02-28

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