Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome-Reference-Cited by-同舟云学术

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Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome

Published:2022-12 Issue:12 Volume:24 Page:1240-1253
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Peng Xiaomin,Dong Xinran,Wang Yaqiong,Wu Bingbing,Wang Huijun,Lu Wei,Xiao Feifan,Yang Lin,Li Gang,Zhou Wenhao,Liu Bo,Lu Yulan^ORCID

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference31 articles.

1. Shwachman-Diamond Syndrome;Farooqui,2021

2. Shwachman-Diamond syndrome: clinical phenotypes;Cipolli;Pancreatology,2001

3. Shwachman-Diamond syndrome: molecular mechanisms and current perspectives;Bezzerri;Mol Diagn Ther,2019

4. Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome;Myers;Biol Blood Marrow Transplant,2020

5. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome;Dror;Ann N Y Acad Sci,2011

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets;2024-02-13

2. Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome;Annals of Laboratory Medicine;2023-06-30

3. An Integrated Pipeline for Trio‐Rapid Genome Sequencing in Critically Ill Infants;Current Protocols;2023-03

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