B. Xiao

发表

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

Xuefan Gu, L. Liang, Hong-guang Zhu, 2020, Orphanet Journal of Rare Diseases.

A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.

Wen-ting Jiang, X. Ji, Yan Xu, 2014, Gene.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

Fei Li, X. Ji, Xuefan Gu, 2018, BMC Medical Genomics.

De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter

Yingwei Chen, W. Qiu, B. Xiao, 2015, American journal of medical genetics. Part A.

A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth

X. Ji, Wei Wei, B. Xiao, 2019, Molecular Syndromology.

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

Xuefan Gu, L. Liang, Yongguo Yu, 2020, Journal of Human Genetics.

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.

Xuefan Gu, L. Liang, Yongguo Yu, 2020, Clinical chemistry.

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

Ping Liu, Hui Jiang, Wen-ting Jiang, 2015, Genetics in Medicine.

Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing.

X. Ji, Yan Xu, Yingwei Chen, 2018, Gene.

Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy

Wen-ting Jiang, X. Ji, Yan Xu, 2017, Prenatal diagnosis.

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

Xuefan Gu, L. Liang, Yongguo Yu, 2020, Orphanet Journal of Rare Diseases.

A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.

X. Ji, J. Tao, B. Xiao, 2013, European journal of medical genetics.

A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency

L. Liang, W. Qiu, B. Xiao, 2022, Molecular Syndromology.

Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.

X. Ji, Yingwei Chen, W. Qiu, 2014, European Journal of Medical Genetics.

Single cell atlas of trisomy 21 cerebral cortex

Xun Xu, Fang Chen, Yan Xu, 2020, bioRxiv.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

R. Pfundt, K. Heimdal, R. Hennekam, 2018, American journal of medical genetics. Part A.

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients

X. Ji, Xuefan Gu, Yongguo Yu, 2020, Frontiers in Genetics.

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Yiping Shen, Linlin M Chen, D. Liang, 2022, Human mutation.

Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity

Yan Xu, W. Qiu, B. Xiao, 2019, Molecular genetics & genomic medicine.

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.

X. Ji, Wei Wei, B. Xiao, 2018, Gene.

Marked yield of re‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities

X. Ji, Yan Xu, Wei Wei, 2018, American journal of medical genetics. Part A.

Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing

Wen-ting Jiang, X. Ji, Yan Xu, 2022, Molecular Genetics and Genomics.

Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR

Wen-ting Jiang, X. Ji, Yan Xu, 2019, Neuromuscular Disorders.

A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome.

X. Ji, Yan Xu, J. Tao, 2014, Gene.

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches

Xuefan Gu, L. Liang, Simon C. K. Ding, 2022, Frontiers in Genetics.

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations

Xuefan Gu, K. Sun, Yongguo Yu, 2022, European Journal of Human Genetics.

A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Yongguo Yu, B. Xiao, Hui Lv, 2020, Orphanet Journal of Rare Diseases.

A novel NFKB2 mutation in a Chinese patient with DAVID syndrome.

W. Qiu, B. Xiao, Lili Wang, 2019, Gene.

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

Xuefan Gu, L. Liang, Yongguo Yu, 2022, Human mutation.

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches

Yan Xu, Xuefan Gu, L. Liang, 2020, Frontiers in Genetics.

Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches

X. Ji, Yan Xu, Yingwei Chen, 2019, Prenatal diagnosis.

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

Xuefan Gu, L. Liang, Hong-guang Zhu, 2020, Orphanet Journal of Rare Diseases.

Inverted Duplication and Deletion of 10q25q26 in a Patient without Any Obvious Skeletal Anomalies

J. Tao, X. Ji, B. Xiao, 2012, Molecular Syndromology.

Deep intronic PAH variants explain missing heritability in hyperphenylalaninemia.

Xuefan Gu, L. Liang, Yongguo Yu, 2023, The Journal of molecular diagnostics : JMD.

Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients

Xuefan Gu, L. Liang, Yongguo Yu, 2023, Journal of medical genetics.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

X. Ji, Xuefan Gu, L. Liang, 2018, BMC medical genomics.

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Yiping Shen, Linlin M Chen, D. Liang, 2021, Human mutation.