Lu J - Search Results

1

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.

Zeng Y, Ding H, Wang X, Huang Y, Liu L, Du L, Lu J, Wu J, Zeng Y, Mai M, Zhu J, Yu L, He W, Guo F, Peng H, Yao C, Qi Y, Liu Y, Li F, Yang J, Hu R, Liang J, Wang J, Wang W, Zhang Y, Yin A. Zeng Y, et al. Among authors: lu j. J Transl Med. 2024 Jul 9;22(1):644. doi: 10.1186/s12967-024-05468-1. J Transl Med. 2024. PMID: 38982507 Free PMC article.

2

Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis.

Hu R, Huang W, Zhou W, Luo X, Ren C, Huang H, Hou Y, Guo L, He W, Lu J. Hu R, et al. Among authors: lu j. Hum Genomics. 2022 Dec 1;16(1):64. doi: 10.1186/s40246-022-00438-4. Hum Genomics. 2022. PMID: 36457118 Free PMC article.

3

Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review.

Wang Y, Liu C, Hu R, Geng J, Lu J, Zhao X, Xiong Y, Wu J, Yin A. Wang Y, et al. Among authors: lu j. Front Pediatr. 2023 Mar 17;11:1141665. doi: 10.3389/fped.2023.1141665. eCollection 2023. Front Pediatr. 2023. PMID: 37009295 Free PMC article.

4

A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.

Yu L, Ding H, Liu M, Liu L, Zhang Q, Lu J, Guo F, Zhang Y. Yu L, et al. Among authors: lu j. BMC Med Genomics. 2023 May 23;16(1):114. doi: 10.1186/s12920-023-01534-7. BMC Med Genomics. 2023. PMID: 37221554 Free PMC article.

5

Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX-associated skeletal dysplasia.

Hu R, Huang W, Ren C, Liu L, Hou Y, Wang Y, Lu J. Hu R, et al. Among authors: lu j. Prenat Diagn. 2023 Sep;43(10):1355-1365. doi: 10.1002/pd.6417. Epub 2023 Aug 1. Prenat Diagn. 2023. PMID: 37526276

6

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes.

Ji X, Li Q, Qi Y, Wang X, Ding H, Lu J, Zhang Y, Yin A. Ji X, et al. Among authors: lu j. Front Genet. 2023 Aug 2;14:1227724. doi: 10.3389/fgene.2023.1227724. eCollection 2023. Front Genet. 2023. PMID: 37600658 Free PMC article.

7

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome.

Wang Y, Liu C, Hu R, Geng J, Lu J, Zhao X, Xiong Y, Wu J, Yin A. Wang Y, et al. Among authors: lu j. Orphanet J Rare Dis. 2023 Sep 27;18(1):305. doi: 10.1186/s13023-023-02923-y. Orphanet J Rare Dis. 2023. PMID: 37759207 Free PMC article.

8

Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports.

Tang H, Hu J, Liu L, Lv L, Lu J, Yang J, Lu J, Chen Z, Yang C, Chen D, Fu J, Wu J. Tang H, et al. Among authors: lu j. Mol Cytogenet. 2023 Oct 19;16(1):27. doi: 10.1186/s13039-023-00658-w. Mol Cytogenet. 2023. PMID: 37858167 Free PMC article.

9

[Clinical phenotype and genetic analysis of a rare case with 6p duplication and terminal deletion syndrome].

Yu Y, Lu J, Li H, Gao Y, Ye X, Zhang X, Lu J, Qiu J. Yu Y, et al. Among authors: lu j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Sep 10;41(9):1117-1123. doi: 10.3760/cma.j.cn511374-20230802-00032. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 39217493 Chinese.

10

Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature.

Zeng Y, Hu R, Lu J, Qi Y, Chen D, Yang C, Wu J. Zeng Y, et al. Among authors: lu j. Ann Med. 2025 Dec;57(1):2440638. doi: 10.1080/07853890.2024.2440638. Epub 2024 Dec 13. Ann Med. 2025. PMID: 39670967 Free PMC article.

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