Shu L - Search Results

1

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D. Malhotra A, et al. Among authors: shu l. J Med Genet. 2021 Oct;58(10):712-716. doi: 10.1136/jmedgenet-2020-107137. Epub 2020 Aug 20. J Med Genet. 2021. PMID: 32820033

2

Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.

Zhang Y, Li H, Pang J, Peng Y, Shu L, Wang H. Zhang Y, et al. Among authors: shu l. Clin Chim Acta. 2019 Apr;491:15-18. doi: 10.1016/j.cca.2019.01.007. Epub 2019 Jan 10. Clin Chim Acta. 2019. PMID: 30639237

3

Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features.

Tian D, Rizwan K, Liu Y, Kang L, Yang Y, Mao X, Shu L. Tian D, et al. Among authors: shu l. Neurol Sci. 2019 Nov;40(11):2325-2331. doi: 10.1007/s10072-019-03979-0. Epub 2019 Jun 25. Neurol Sci. 2019. PMID: 31240573

4

The first case of a non-infertile female patient with Pitt-Hopkins syndrome.

Li H, Zhang Y, Yu W, Shu L, Mao X, Jia Z, Xi H, Wang H. Li H, et al. Among authors: shu l. Am J Med Genet A. 2019 Nov;179(11):2311-2314. doi: 10.1002/ajmg.a.61325. Epub 2019 Aug 28. Am J Med Genet A. 2019. PMID: 31464085 No abstract available.

5

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric K_Na1.1/K_Na1.2 Potassium Channel.

Mao X, Bruneau N, Gao Q, Becq H, Jia Z, Xi H, Shu L, Wang H, Szepetowski P, Aniksztejn L. Mao X, et al. Among authors: shu l. Front Cell Neurosci. 2020 Jan 24;14:1. doi: 10.3389/fncel.2020.00001. eCollection 2020. Front Cell Neurosci. 2020. PMID: 32038177 Free PMC article.

6

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.

Huang Y, Mao X, van Jaarsveld RH, Shu L, Terhal PA, Jia Z, Xi H, Peng Y, Yan H, Yuan S, Li Q, Wang H, Bellen HJ. Huang Y, et al. Among authors: shu l. Hum Mol Genet. 2020 Jun 3;29(9):1537-1546. doi: 10.1093/hmg/ddaa078. Hum Mol Genet. 2020. PMID: 32338762 Free PMC article.

7

MN1 gene loss-of-function mutation causes cleft palate in a pedigree.

Shu L, He D, Wu D, Peng Y, Xi H, Mao X, Wang H. Shu L, et al. Brain. 2021 Mar 3;144(2):e18. doi: 10.1093/brain/awaa431. Brain. 2021. PMID: 33351070 Free PMC article. No abstract available.

8

Parental mosaicism in de novo neurodevelopmental diseases.

Shu L, Zhang Q, Tian Q, Yang S, Peng X, Mao X, Yang L, Du J, Wang H. Shu L, et al. Am J Med Genet A. 2021 Jul;185(7):2119-2125. doi: 10.1002/ajmg.a.62174. Epub 2021 Apr 14. Am J Med Genet A. 2021. PMID: 33851778

9

Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency.

Tian Q, Cao Y, Shu L, Chen Y, Peng Y, Wang Y, Chen Y, Wang H, Mao X. Tian Q, et al. Among authors: shu l. Front Genet. 2021 Apr 8;12:651878. doi: 10.3389/fgene.2021.651878. eCollection 2021. Front Genet. 2021. PMID: 33897766 Free PMC article.

10

Effective treatments for FGF12-related early-onset epileptic encephalopathies patients.

Tian Q, Li H, Shu L, Wang H, Peng Y, Fang H, Mao X. Tian Q, et al. Among authors: shu l. Brain Dev. 2021 Sep;43(8):851-856. doi: 10.1016/j.braindev.2021.04.010. Epub 2021 May 19. Brain Dev. 2021. PMID: 34020858

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