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Renqian Du

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements
2018 · Xiaofei Song, Christine R. Beck, et al. · Genome Research · 103
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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
2019 · Jiaqi Liu, Nan Wu, et al. · Genetics in Medicine · 88
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
2018 · DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study, Jiaqi Liu, et al. · Human Genetics · 77
Centers for Mendelian Genomics: A decade of facilitating gene discovery
2022 · Samantha M. Baxter, Jennifer E. Posey, et al. · Genetics in Medicine · 72
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
2018 · Kun Wang, Sen Zhao, et al. · Journal of Medical Genetics · 71
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis
2017 · N. Dinckan, R. Du, et al. · Journal of Dental Research · 64
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Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification
2012 · Renqian Du, Chuncheng Lu, et al. · Journal of Human Genetics · 64
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
2020 · Sen Zhao, Yuanqiang Zhang, et al. · Journal of Medical Genetics · 62
Evaluation of copy number variation detection for a SNP array platform
2014 · Xin Zhang, Renqian Du, et al. · BMC Bioinformatics · 51
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NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy
2012 · Yuwu Jiang, Yuehua Zhang, et al. · Human Genetics · 42
TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease
2019 · Weisheng Chen, Jiachen Lin, et al. · Human Mutation · 37
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Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome
2020 · Nan Yang, Nan Wu, et al. · Kidney International · 35
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Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy
2018 · Lin Ge, Aijie Liu, et al. · Scientific Reports · 33
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Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice
2019 · Xiaojun Ren, Nan Yang, et al. · Journal of Medical Genetics · 31
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
2018 · Renqian Du, Nuriye Dinckan, et al. · Human Genetics · 26
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy
2015 · Juan Ding, Dandan Zhao, et al. · Brain and Development · 24
Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral–basilar artery dissection (IVAD)
2018 · Kun Wang, Sen Zhao, et al. · Journal of Human Genetics · 20
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A review of pre-implantation genetic testing technologies and applications
2022 · Ren-Qian Du, Ding-Ding Zhao, et al. · Reproductive and Developmental Medicine · 19
SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans
2016 · Jing Guan, Dayong Wang, et al. · Journal of Human Genetics · 18
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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
2018 · Nuriye Dinckan, Renqian Du, et al. · American Journal of Medical Genetics Part A · 17
Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome
2014 · Zhen Peng, Weichen Zhou, et al. · Human Molecular Genetics · 17
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Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
2020 · Laurie A. Robak, Renqian Du, et al. · Neurology Genetics · 16
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Copy number variations in the human genome: their mutational mechanisms and roles in diseases
2011 · Ren-Qian DU, Li JIN, et al. · Hereditas (Beijing) · 7
Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease
2019 · Laurie A. Robak, Renqian Du, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
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CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data
2017 · Cheng Zhang, Jianqi Lu, et al. · Journal of genetics and genomics/Journal of Genetics and Genomics · 1
Works count: 28
Citation count: 996
H-index: 18
I10-index: 22
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