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Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients
The results support the notion that the CXXC zinc finger domain of KMT2A gene is a hotspot for missense variants associated with more severe neurophenotypes, which can lead to both advanced and delayed bone age in Chinese WDSTS patients.
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China…
POMES is serving as a diagnostic equalizer for patients who do not normally receive extensive clinical evaluation and clinical diagnosis prior to testing, and should be applicable to other developing countries that are lacking clinical, financial, and personnel resources.
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal
The findings indicate that increased BMP signaling owing to a GDF6 gain‐of‐function mutation is responsible for loss of joint formation and profound functional impairment in patients with SYNS4.
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature
It is suggested that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID said to be associated with non-syndromic long stature.
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients
The genotypic and phenotypic spectra of NS in China are described, providing new insights into distinctive clinical features due to specific pathogenic variant, and ubiquitous abnormal intracranial structure due to SHOC2 pathogenic variants.
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature
- Niu Li, G. Chang, Jian Wang
- Biology, MedicineAmerican journal of medical genetics. Part A
- 25 September 2017
A chinese adolescent patient who mainly presented with obesity, insulin resistance, fatty liver, and short stature is described, the first report involving an Asian who harbored GPD1 mutations, and next‐generation sequencing revealed a novel compound heterozygous variant.
Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy
Three male patients with epilepsy and mild to moderate mental retardation are studied and targeted panel sequencing of genes known to cause inherited disorders are conducted to enrich the understanding of the phenotypic and genotypic spectrum of ARHGEF9.
Psychomotor development and attention problems caused by a splicing variant of CNKSR2
This is the first report of a splicing variant of CNKSR2 , and the unique clinical features of this pedigree will help extend the understanding of the genetic and phenotypic spectra of CNkSR2 -related disorders.
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data
Low concordances of CNV, detected by three different read-depth based programs, indicate the immature status of WES-based CNV detection, and suggests that CMA will continue to play an important role in detecting clinical grade CNV in the NGS era, which is largely based on WES.