Luo X - Search Results

1

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.

Du X, Gao X, Liu X, Shen L, Wang K, Fan Y, Sun Y, Luo X, Liu H, Wang L, Wang Y, Gong Z, Wang J, Yu Y, Li F. Du X, et al. Among authors: luo x. Front Genet. 2018 Nov 30;9:594. doi: 10.3389/fgene.2018.00594. eCollection 2018. Front Genet. 2018. PMID: 30555518 Free PMC article.

2

Next-generation sequencing as a second-tier diagnostic test for newborn screening.

Luo X, Wang R, Fan Y, Gu X, Yu Y. Luo X, et al. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):927-931. doi: 10.1515/jpem-2018-0088. J Pediatr Endocrinol Metab. 2018. PMID: 30030962

3

Identification of RUNX2 variants associated with cleidocranial dysplasia.

Gao X, Li K, Fan Y, Sun Y, Luo X, Wang L, Liu H, Gong Z, Wang J, Wang Y, Gu X, Yu Y. Gao X, et al. Among authors: luo x. Hereditas. 2019 Sep 16;156:31. doi: 10.1186/s41065-019-0107-7. eCollection 2019. Hereditas. 2019. PMID: 31548836 Free PMC article.

4

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.

Sun Y, Ye X, Fan Y, Wang L, Luo X, Liu H, Gao X, Gong Z, Wang Y, Qiu W, Zhang H, Han L, Liang L, Ye H, Xiao B, Gu X, Yu Y. Sun Y, et al. Among authors: luo x. Clin Chem. 2020 Mar 1;66(3):455-462. doi: 10.1093/clinchem/hvz033. Clin Chem. 2020. PMID: 32031585

5

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.

Luo X, Hu J, Gao X, Fan Y, Sun Y, Gu X, Qiu W. Luo X, et al. BMC Med Genet. 2020 Apr 8;21(1):74. doi: 10.1186/s12881-020-01010-4. BMC Med Genet. 2020. PMID: 32268899 Free PMC article.

6

A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns.

Luo X, Sun Y, Xu F, Guo J, Li L, Lin Z, Ye J, Gu X, Yu Y. Luo X, et al. Ann Transl Med. 2020 Sep;8(17):1058. doi: 10.21037/atm-20-1147. Ann Transl Med. 2020. PMID: 33145277 Free PMC article.

7

A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.

Xu N, Lv H, Yang T, Du X, Sun Y, Xiao B, Fan Y, Luo X, Zhan Y, Wang L, Li F, Yu Y. Xu N, et al. Among authors: luo x. Orphanet J Rare Dis. 2020 Nov 30;15(1):335. doi: 10.1186/s13023-020-01592-5. Orphanet J Rare Dis. 2020. PMID: 33256793 Free PMC article.

8

Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China.

Luo X, Zhu H, Wang L, Xiao B, Fan Y, Ye H, Ying X, Qiu W, Zhang H, Han L, Gu X, Yu Y, Wang L. Luo X, et al. Taiwan J Obstet Gynecol. 2021 Mar;60(2):299-304. doi: 10.1016/j.tjog.2021.01.008. Taiwan J Obstet Gynecol. 2021. PMID: 33678331 Free article.

9

Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.

Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W. Xia Y, et al. Among authors: luo x. J Clin Lipidol. 2022 Jan-Feb;16(1):40-51. doi: 10.1016/j.jacl.2021.11.015. Epub 2021 Dec 6. J Clin Lipidol. 2022. PMID: 34969652

10

Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.

Luo X, Duan Y, Fang D, Sun Y, Xiao B, Zhang H, Han L, Liang L, Gong Z, Gu X, Yu Y, Qiu W. Luo X, et al. Hum Mutat. 2022 May;43(5):557-567. doi: 10.1002/humu.24345. Epub 2022 Feb 24. Hum Mutat. 2022. PMID: 35143115

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