Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangements

Xiaofei Song, Christine R. Beck, Renqian Du, +8

Genome Research

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Jiaqi Liu, Nan Wu, Nan Yang, +60

Genetics in Medicine

Compound InheritanceSpinal Cord InjuryCongenital ScoliosisSpine DeformityThoracic Spine +5

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

Renqian Du, Chuncheng Lu, Zhengwen Jiang, +9

Journal of Human Genetics

Efficient TypingGeneticsCopy Number VariationsMultiplex Competitive Amplification

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

Kun Wang, Sen Zhao, Bowen Liu, +28

Journal of Medical Genetics

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

Nuriye Dinçkan, Renqian Du, Lauren E. Petty, +15

Journal of Dental Research

BioinformaticsNext-generation SequencingGeneticsPathogenesisTooth Agenesis +11

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

Sen Zhao, Yuanqiang Zhang, Wei‐Sheng Chen, +57

Journal of Medical Genetics

Evaluation of copy number variation detection for a SNP array platform

Xin Zhang, Renqian Du, Shilin Li, +3

BMC Bioinformatics

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy

Yuwu Jiang, Yuehua Zhang, Ping Zhang, +15

Human Genetics

Molecular NeuroscienceNeurologyNeuroscienceMolecular NeurobiologyChildhood Absence Epilepsy +3

Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy

Ge Lin, Aijie Liu, Kai Gao, +16

Scientific Reports

<i>TBX6</i> missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

Wei‐Sheng Chen, Jiachen Lin, Lianlei Wang, +33

Human Mutation

Rare DiseasesAllelic VariantDevelopmental BiologyCongenital ScoliosisGene Dosage +13