共 178 条
[1]
He M(2021)The added value of whole-exome sequencing for anomalous fetuses with detailed prenatal ultrasound and postnatal phenotype Front Genet 12 j2563-131
[2]
Du L(2022)Implementation of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal structural anomalies: prospective cohort study Ultrasound Obstet Gynecol 357 121-1178
[3]
Xie H(2017)Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons BMJ 43 1171-424
[4]
Zhang L(2016)Spectrum of cytogenomic abnormalities revealed by array comparative genomic hybridization on products of conception culture failure and normal karyotype samples J Genet Genomics 19 405-1096
[5]
Gu Y(2015)Genome-wide sequencing for prenatal detection of fetal single-gene disorders Cold Spring Harb Perspect Med 17 1090-442
[6]
Lei T(2017)Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development Genet Med 18 435-2032
[7]
Zheng J(2015)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 23 2027-1078
[8]
Chen D(2016)A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Genet Med 18 1073-1073
[9]
Zhu X(2021)Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss Genet Med 35 1065-1017
[10]
Gao Z(2018)Wholeexome sequencing analysis of products of conception identifies novel mutations associated with missed abortion Mol Med Rep 21 1010-51