A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.

作者信息

Brunelli Luca, Mao Rong, Jenkins Sabrina Malone, Bleyl Steven B, Dames Shale A, Miller Christine E, Ostrander Betsy, Tvrdik Tatiana, Andrews Seth, Flores Josue, Patel Shrena, Gudgeon James M, Schaefer Susan

机构信息

University of Utah School of Medicine, Salt Lake City, Utah.

ARUP Laboratories, Salt Lake City, Utah.

出版信息

Am J Med Genet A. 2017 Jul;173(7):1979-1982. doi: 10.1002/ajmg.a.38259. Epub 2017 May 12.

DOI:10.1002/ajmg.a.38259

PMID:28497657

Abstract

摘要

相似文献

A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.

Am J Med Genet A. 2017 Jul;173(7):1979-1982. doi: 10.1002/ajmg.a.38259. Epub 2017 May 12.

Clinical Next Generation Sequencing for Precision Medicine in Cancer.

Curr Genomics. 2015 Aug;16(4):253-63. doi: 10.2174/1389202915666150511205313.

Newborn Screening in the Era of Precision Medicine.

Adv Exp Med Biol. 2017;1005:47-61. doi: 10.1007/978-981-10-5717-5_3.

Next-generation sequencing-based clinical sequencing: toward precision medicine in solid tumors.

Int J Clin Oncol. 2019 Feb;24(2):115-122. doi: 10.1007/s10147-018-1375-3. Epub 2018 Dec 4.

Rapid whole genome sequencing and precision neonatology.

Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29.

Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine.

Expert Rev Mol Diagn. 2018 May;18(5):411-421. doi: 10.1080/14737159.2018.1461561. Epub 2018 Apr 23.

Targeted next generation sequencing as a tool for precision medicine.

BMC Med Genomics. 2019 Jun 3;12(1):81. doi: 10.1186/s12920-019-0527-2.

Clinical target sequencing for precision medicine of breast cancer.

Int J Clin Oncol. 2019 Feb;24(2):131-140. doi: 10.1007/s10147-018-1373-5. Epub 2019 Jan 2.

Toward the use of precision medicine for the treatment of head and neck squamous cell carcinoma.

Oncotarget. 2017 Jan 10;8(2):2141-2152. doi: 10.18632/oncotarget.13798.

[Precision medicine in hematological malignancies].

Rinsho Ketsueki. 2019;60(9):1386-1395. doi: 10.11406/rinketsu.60.1386.

引用本文的文献

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.

Children (Basel). 2023 Jun 1;10(6):991. doi: 10.3390/children10060991.

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.

Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730.

Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.

Int J Neonatal Screen. 2022 Mar 21;8(1):22. doi: 10.3390/ijns8010022.

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.

Pediatr Res. 2022 Nov;92(5):1364-1369. doi: 10.1038/s41390-022-01965-5. Epub 2022 Feb 3.

A Variant of Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.

Front Pediatr. 2021 Aug 30;9:678615. doi: 10.3389/fped.2021.678615. eCollection 2021.

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13.

The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Clin Case Rep. 2018 Jun 10;6(8):1452-1456. doi: 10.1002/ccr3.1603. eCollection 2018 Aug.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.

Am J Med Genet A. 2017 Jul;173(7):1979-1982. doi: 10.1002/ajmg.a.38259. Epub 2017 May 12.

Clinical Next Generation Sequencing for Precision Medicine in Cancer.

Curr Genomics. 2015 Aug;16(4):253-63. doi: 10.2174/1389202915666150511205313.

Newborn Screening in the Era of Precision Medicine.

Adv Exp Med Biol. 2017;1005:47-61. doi: 10.1007/978-981-10-5717-5_3.

Next-generation sequencing-based clinical sequencing: toward precision medicine in solid tumors.

Int J Clin Oncol. 2019 Feb;24(2):115-122. doi: 10.1007/s10147-018-1375-3. Epub 2018 Dec 4.

Rapid whole genome sequencing and precision neonatology.

Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29.

Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine.

Expert Rev Mol Diagn. 2018 May;18(5):411-421. doi: 10.1080/14737159.2018.1461561. Epub 2018 Apr 23.

Targeted next generation sequencing as a tool for precision medicine.

BMC Med Genomics. 2019 Jun 3;12(1):81. doi: 10.1186/s12920-019-0527-2.

Clinical target sequencing for precision medicine of breast cancer.

Int J Clin Oncol. 2019 Feb;24(2):131-140. doi: 10.1007/s10147-018-1373-5. Epub 2019 Jan 2.

Toward the use of precision medicine for the treatment of head and neck squamous cell carcinoma.

Oncotarget. 2017 Jan 10;8(2):2141-2152. doi: 10.18632/oncotarget.13798.

[Precision medicine in hematological malignancies].

Rinsho Ketsueki. 2019;60(9):1386-1395. doi: 10.11406/rinketsu.60.1386.

引用本文的文献

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.

Children (Basel). 2023 Jun 1;10(6):991. doi: 10.3390/children10060991.

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.

Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730.

Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.

Int J Neonatal Screen. 2022 Mar 21;8(1):22. doi: 10.3390/ijns8010022.

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.

Pediatr Res. 2022 Nov;92(5):1364-1369. doi: 10.1038/s41390-022-01965-5. Epub 2022 Feb 3.

A Variant of Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.

Front Pediatr. 2021 Aug 30;9:678615. doi: 10.3389/fped.2021.678615. eCollection 2021.

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13.

The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Clin Case Rep. 2018 Jun 10;6(8):1452-1456. doi: 10.1002/ccr3.1603. eCollection 2018 Aug.