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本文引用的文献
1
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med. 2022 Jul;24(7):1407-1414. doi: 10.1016/j.gim.2022.04.006. Epub 2022 Jun 17.
2
Actualities in neonatal endocrine and metabolic screening.
Acta Endocrinol (Buchar). 2021 Jul-Sep;17(3):416-421. doi: 10.4183/aeb.2021.416.
3
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints.
Bioinformatics. 2021 Dec 11;37(24):4626-4634. doi: 10.1093/bioinformatics/btab529.
4
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat. 2020 Dec;41(12):2028-2057. doi: 10.1002/humu.24107. Epub 2020 Nov 10.
5
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Clin Genet. 2020 Dec;98(6):562-570. doi: 10.1111/cge.13848. Epub 2020 Sep 17.
6
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
7
A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.
BMC Med Genet. 2018 Jun 18;19(1):102. doi: 10.1186/s12881-018-0606-9.
8
Growth Hormone Stimulation Tests in Children with Kabuki Syndrome.
Horm Res Paediatr. 2016;86(5):319-324. doi: 10.1159/000449221. Epub 2016 Sep 21.
9
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
10
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
Genome Res. 2014 Apr;24(4):673-87. doi: 10.1101/gr.160465.113. Epub 2013 Dec 19.
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