Lu Y - Search Results

1

Assessment of Neonatal Intensive Care Unit Practices, Morbidity, and Mortality Among Very Preterm Infants in China.

Cao Y, Jiang S, Sun J, Hei M, Wang L, Zhang H, Ma X, Wu H, Li X, Sun H, Zhou W, Shi Y, Wang Y, Gu X, Yang T, Lu Y, Du L, Chen C, Lee SK, Zhou W; Chinese Neonatal Network. Cao Y, et al. Among authors: lu y. JAMA Netw Open. 2021 Aug 2;4(8):e2118904. doi: 10.1001/jamanetworkopen.2021.18904. JAMA Netw Open. 2021. PMID: 34338792 Free PMC article.

2

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome.

Chen X, Wang H, Wu B, Dong X, Liu B, Chen H, Lu Y, Zhou W, Yang L. Chen X, et al. Among authors: lu y. J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):183-187. doi: 10.4274/jcrpe.5080. Epub 2017 Oct 30. J Clin Res Pediatr Endocrinol. 2018. PMID: 29082893 Free PMC article.

3

Speech and language delay in a patient with WDR4 mutations.

Chen X, Gao Y, Yang L, Wu B, Dong X, Liu B, Lu Y, Zhou W, Wang H. Chen X, et al. Among authors: lu y. Eur J Med Genet. 2018 Aug;61(8):468-472. doi: 10.1016/j.ejmg.2018.03.007. Epub 2018 Mar 26. Eur J Med Genet. 2018. PMID: 29597095

4

Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.

Kong Y, Yan K, Hu L, Wang M, Dong X, Lu Y, Wu B, Wang H, Yang L, Zhou W. Kong Y, et al. Among authors: lu y. Clin Chim Acta. 2018 Aug;483:14-19. doi: 10.1016/j.cca.2018.03.027. Epub 2018 Apr 9. Clin Chim Acta. 2018. PMID: 29649454

5

Clinical and genetic spectrum of a large cohort of children with epilepsy in China.

Yang L, Kong Y, Dong X, Hu L, Lin Y, Chen X, Ni Q, Lu Y, Wu B, Wang H, Lu QR, Zhou W. Yang L, et al. Among authors: lu y, lu qr. Genet Med. 2019 Mar;21(3):564-571. doi: 10.1038/s41436-018-0091-8. Epub 2018 Jun 21. Genet Med. 2019. PMID: 29930392 Free PMC article.

6

Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation.

Qian Y, Wu B, Lu Y, Dong X, Qin Q, Zhou W, Wang H. Qian Y, et al. Among authors: lu y. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a002949. doi: 10.1101/mcs.a002949. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30455226 Free PMC article.

7

Data on mutations and Clinical features in SCN1A or SCN2A gene.

Kong Y, Yan K, Hu L, Wang M, Dong X, Lu Y, Wu B, Wang H, Yang L, Zhou W. Kong Y, et al. Among authors: lu y. Data Brief. 2018 Aug 30;22:492-501. doi: 10.1016/j.dib.2018.08.122. eCollection 2019 Feb. Data Brief. 2018. PMID: 30619928 Free PMC article.

8

The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Su Y, Wang H, Rejiafu N, Wu B, Jiang H, Chen H, A X, Qian Y, Li M, Lu Y, Ren Y, Li L, Zhou W. Su Y, et al. Among authors: lu y. Ann Transl Med. 2019 Jun;7(12):258. doi: 10.21037/atm.2019.05.16. Ann Transl Med. 2019. PMID: 31355225 Free PMC article.

9

Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates.

Liu X, Mei M, Chen X, Lu Y, Dong X, Hu L, Hu X, Cheng G, Cao Y, Yang L, Zhou W. Liu X, et al. Among authors: lu y. Respir Res. 2019 Aug 5;20(1):174. doi: 10.1186/s12931-019-1148-1. Respir Res. 2019. PMID: 31382961 Free PMC article.

10

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Yu S, Wu B, Qian Y, Zhang P, Lu Y, Dong X, Wang Q, Zhao X, Liu R, Zhou W, Wang H. Yu S, et al. Among authors: lu y. Mol Genet Genomic Med. 2019 Dec;7(12):e1009. doi: 10.1002/mgg3.1009. Epub 2019 Oct 22. Mol Genet Genomic Med. 2019. PMID: 31637876 Free PMC article.

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