Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 Gene
Chen F, Xie Z, Zhang VW, Chen C, Fan H, Zhang D, Jiang W, Wang C, Wu P.Front Genet. 2022 Apr 6;13:875015.35464853
Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases
Chen F, Guo S, Li X, Liu S, Wang L, Zhang VW, Xu H, Huang Z, Ying Y, Shu S. Front Genet. 2022 Mar 11;13:845246. 35360843
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients
Zhao J, Lyu G, Ding C, Wang X, Li J, Zhang W, Yang X, Zhang VW. Mol Genet Genomic Med. 2022 Feb 14:e1825. 35156329
Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia
Yuan D, Yan T, Luo S, Huang J, Tan J, Zhang J, Zhang VW, Lan Y, Hu T, Guo J, Huang M, Zeng D. Front Genet. 2021 Dec 13;12:765503.
Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report
Ding FJ, Lyu GZ, Zhang VW, Jin H. World J Clin Cases. 2021 Oct 26;9(30):9302-9309. 34786417
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes
Li X, Zheng Y, Li S, Nair U, Sun C, Zhao C, Lu J, Zhang VW, Maljevic S, Petrou S, Lin J. Ann Transl Med. 2021 Sep;9(18):1397. 34733949
Mesenchymal stem cells from different sources show distinct therapeutic effects in hyperoxia-induced bronchopulmonary dysplasia in rats
Xie Y, Chen F, Jia L, Chen R, Zhang VW, Zhong X, Wang D. J Cell Mol Med. 2021 Sep;25(17):8558-8566. 34322990
Exome-based preconception carrier testing for consanguineous couples in China
He Y, Xie RG, Lou JW, Li YW, Wang CL, Zhang VW, Li DZ. Prenat Diagn. 2021 Oct;41(11):1425-1429.34486758
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders
Ouyang X, Zhang Y, Zhang L, Luo J, Zhang T, Hu H, Liu L, Zhong L, Zeng S, Xu P, Bai Z, Wong LJ, Wang J, Wang C, Wang B, Zhang VW. Front Genet. 2021 Aug 19;12:725259. 34490048
Parental mosaicism in de novo neurodevelopmental diseases
Shu L, Zhang Q, Tian Q, Yang S, Zhang VW, Peng X, Mao X, Yang L, Du J, Wang H. Am J Med Genet A. 2021 Jul;185(7):2119-2125. 33851778
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China
Yan HM, Liu ZM, Cao B, Zhang VW, He YD, Jia ZJ, Xi H, Liu J, Fang F, Wang H. Front Genet. 2021 Jul 1;12:611226. 34276756
Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene
Wang B, Du Z, Shan G, Yan C, Zhang VW, Li Z. Front Pediatr. 2021 Jun 7;9:639687. 34164355
Report of a case with ferredoxin reductase (FDXR) gene variants in a Chinese boy exhibiting hearing loss, visual impairment, and motor retardation
Yang C, Zhang Y, Li J, Song Z, Yi Z, Li F, Xue J, Zhang W, Wang C. Int J Dev Neurosci. 2021 Jun;81(4):364-369.33742450
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy
Liu Z, Shimura M, Zhang L, Zhang W, Wang J, Ogawa-Tominaga M, Wang J, Wang X, Lv J, Shi W, Zhang VW, Murayama K, Fang F. Mitochondrion. 2021 Mar;57:222-229.33401012
Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort
Gong K, Xia M, Wang Y, Wang N, Liu Y, Zhang VW, Cheng H, Chen Y. Sci Rep. 2021 Feb 11;11(1):3615. 33574344
Prenatal phenotypic discordance in monozygotic twins due to a postzygotic TSC2 variant
Zhen L, Guo J, Jiang F, Xu LL, Zhang VW, Li DZ.Prenat Diagn. 2021 Jan;41(2):207-209. 33074564
Identification of thalassemia gene cluster deletion by long-read whole-genome sequencing (LR-WGS)
Jiang F, Lyu GZ, Zhang VW, Li DZ.Int J Lab Hematol. 2021 Aug;43(4):859-865.33400392
Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism
Chen S, Zhou RL, Zhang W, Che CH, Feng SY, Huang HP, Liu CY, Zou ZY. Neurobiol Aging. 2021 Nov;107:168-173.34175147
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound anomalies and Normal Karyotypes
Qi Q, Jiang Y, Zhou X, Meng H, Hao N, Chang J, Bai J, Wang C, Wang M, Guo J, Ouyang Y, Xu Z, Xiao M, Zhang VW, Liu J.Genes (Basel). 2020 Nov 25;11(12):1397.33255631
The Study of Genetic Susceptibility and Mitochondrial Dysfunction in Mesial Temporal Lobe Epilepsy
Yang H, Yin F, Gan S, Pan Z, Xiao T, Kessi M, Yang Z, Zhang VW, Wu L.Mol Neurobiol. 2020 Sep;57(9):3920-3930. 32632602
B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7
Mai K, Chen X, Wang C, Wu S, Yang L, Huang Z, Zhang G, Zhang VW, Wang J, Chen D. Immunobiology. 2020 Sep;225(5):152005. 32962823
Novel Biallelic Variants in COL7A1 Cause Recessive Dystrophic Epidermolysis Bullosa
Yang N, Ma Y, Yao H, Chang Q, Zhang V, Liang Z, Cai X.Mol Genet Genomic Med. 2020 Aug;8(8):e1347.32537942
Clinical and laboratory interpretation of mitochondrial mRNA variants
Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ.Hum Mutat. 2020 Oct;41(10):1783-1796.32652755
Interpretation of Mitochondrial tRNA Variants
Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ.Genet Med. 2020 May;22(5):917-926.31965079
L1CAM Mutations in Three Fetuses Diagnosed by Medical Exome Sequencing
Li YT, Chen JS, Jian W, He YD, Li N, Xie YN, Wang J, Zhang VW, Huang WR, Jiang FM, Ye XQ, Chen DJ, Chen M.Taiwan J Obstet Gynecol. 2020 May;59(3):451-455.32416898
Clinical Application of Medical Exome Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies
Chen M, Chen J, Wang C, Chen F, Xie Y, Li Y, Li N, Wang J, Zhang VW, Chen D.Front Neurol.Eur J Obstet Gynecol Reprod Biol. 2020 Aug;251:119-124.32502767
Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa
You C, Zeng W, Deng L, Lei Z, Gao X, Zhang VW, Wang Y.Front Neurol. 2020 May 5;11:319.32431660
Profiling of Mitochondrial Genomes in SCA3/MJD Patients From Mainland China
Yuan H, Yang H, Peng L, Peng Y, Chen Z, Wan L, Wang C, Shi Y, Zhang VW, Tang B, Qiu R, Jiang H.Gene. 2020 May 15;738:144487. 32087274
Rapid Prenatal Diagnosis of Skeletal Dysplasia Using Medical Trio Exome Sequencing: Benefit for Prenatal Counseling and Pregnancy Management
Han J, Yang YD, He Y, Liu WJ, Zhen L, Pan M, Yang X, Zhang VW, Liao C, Li DZ.Prenat Diagn. 2020 Apr;40(5):577-584. 31994750
Genetic Examination for Fetuses With Increased Fetal Nuchal Translucency by Genomic Technology
Shuya Xue, Huanchen Yan, Jingsi Chen, Nan Li, Jiayan Wang, Yu Liu, Huimin Zhang, Shaoying Li, Wei Zhang, Dunjin Chen, Min Chen.Cytogenet Genome Res. 2020 Feb;160(2):57-62.32036363
Novel SPEG variant cause centronuclear myopathy in China
Tang J, Ma W, Chen Y, Jiang R, Zeng Q, Tan J, Jiang H, Li Q, Zhang VW, Wang J, Tang H, Luo L.J Clin Lab Anal. 2020 Feb;34(2):e23054.31625632
Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis
Zhang Y, Zhang Y, Zhang VW, Zhang C, Ding H, Yin A.BMC Pediatr. 2019 Oct 21;19(1):364.31638924
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother
Uittenbogaard M, Wang H, Zhang VW, Wong LJ, Brantner CA, Gropman A, Chiaramello A.Mol Genet Metab. 2019 Apr;126(4):429-438. 30709774
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, and Victor W. Zhang.Neurol Genet. 2019 Apr 18;5(2):e565.31192300
De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR
Wang H, Li S, Li S, Jiang N, Guo J, Zhang W, Zhong M, Xie J.Fetal Pediatr Pathol. 2019 Feb;38(1):63-71.30585108
Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE
Zheng W, Yan Z, He R, Huang Y, Lin A, Huang W, Su Y, Li S, Zhang VW, Xie H.BMC Neurol. 2018 Oct 20;18(1):174.30342480
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
Fan Y, Yin W, Hu B, Kline AD, Zhang VW, Liang D, Sun Y, Wang L, Tang S, Powis Z, Li L, Yan H, Shi Z, Yang X, Chen Y, Wang J, Jiang Y, Tan H, Gu X, Wu L, Yu Y. Am J Hum Genet. 2018 Sep 6;103(3):448-455.30122539
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia
Liu Q, Wang LA, Su J, Tong D, Lan W, Wang L, Liu G, Zhang J, Zhang VW, Zhang D, Chen R, Zhu Q, Jiang J. Endocr Connect. 2018 Sep 1.30352423
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
Wang L, Zhang VW, Li S, Li H, Sun Y, Li J, Zhu Y, He R, Lin J, Zhang C. Orphanet J Rare Dis. 2018 Aug 14;13(1):133.30107846
A Rare Hb H Hydrops Fetalis Syndrome Caused by the - -SEA Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient
Li Q, Li Y, Zhong M, Zhang VW, Jin W, Li S, Li L.Hemoglobin. 2018 Jul;42(4):278-280. 30486690
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia
Wang Z, Lin J, Qiao K, Cai S, Zhang VW, Zhao C, Lu J. Eur J Med Genet. 2018 Jul 11. pii: S1769-7212(18)30266-0.30006059
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing
Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. Genet Med. 2017 Aug;19(8):936-944.28125085
Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX
Jiang Y, Pan J, Guo D, Zhang W, Xie J, Fang Z, Guo C, Fang Q, Jiang W, Guo Y. Clin Chim Acta. 2017 Jun;469:111-118.28242392
Genetic evidence of 'genuine' empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature
Yuan P, He Z, Zheng L, Wang W, Li Y, Zhao H, Zhang VW, Zhang Q, Yang D. Hum Reprod. 2017 Apr 1;32(4):944-953.28175319