Yu Sun

发表

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.

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.

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development

Xuefan Gu, L. Liang, Yongguo Yu, 2017, Scientific Reports.

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

Yongguo Yu, Yu Sun, Dan Yan, 2022, Molecular genetics & genomic 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.

Loss of SPACA1 function causes autosomal recessive globozoospermia by damaging the acrosome-acroplaxome complex.

H. Saiyin, Xiaofei Zhang, Xu Han, 2021, Human reproduction.

Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia

Jing Chen, Yongguo Yu, Guorui Hu, 2017, Journal of Human Genetics.

A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns

Xuefan Gu, Yongguo Yu, Jun Ye, 2020, Annals of translational medicine.

Pilot study of expanded newborn screening for 573 genes related to severe diseases in China: results from 1173 newborns

Xuefan Gu, Yongguo Yu, Jun Ye, 2019 .

Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis

Yining Zhao, Yongguo Yu, Guofeng Xu, 2020, World Journal of Urology.

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the PTPRQ Gene Causing Autosomal Recessive Hearing Loss in a Chinese Family

Le Xie, Wen Xie, Xiao-zhou Liu, 2022, Frontiers in Genetics.

Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools

Xuefan Gu, Yongguo Yu, Yanjie Fan, 2022, Clinical genetics.

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

N. Blau, Xuefan Gu, L. Liang, 2018, Clinica chimica acta; international journal of clinical chemistry.

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Xuefan Gu, Ming Zhu, Yongguo Yu, 2019, Journal of clinical research in pediatric endocrinology.

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome.

Xuefan Gu, Yongguo Yu, Yanjie Fan, 2019, Journal of clinical research in pediatric endocrinology.

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder

Yongguo Yu, Z. Gong, Xueren Gao, 2018, Front. Genet..

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.

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

A. Dauber, L. Liang, Yongguo Yu, 2018, Cellular Physiology and Biochemistry.

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

Xuefan Gu, Yongguo Yu, Shanshan Xu, 2017, BMC Medical Genomics.

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.

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann–Steiner syndrome

Xuefan Gu, Yongguo Yu, Guorui Hu, 2017, American journal of medical genetics. Part A.

Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.

W. Qiu, Yu Sun, Xiantao Ye, 2020, European journal of medical genetics.

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.

RT‐PCR analysis of mRNA revealed the splice‐altering effect of rare intronic variants in monogenic disorders

Yongguo Yu, W. Qiu, Yanjie Fan, 2020, Annals of human genetics.

Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)

Yongguo Yu, Yanjie Fan, Yu Sun, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

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.

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Xiaoping Yang, D. Liang, Xuefan Gu, 2018, American journal of human genetics.

Identification of RUNX2 variants associated with cleidocranial dysplasia

Xuefan Gu, Yongguo Yu, Kunxia Li, 2019, Hereditas.

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.

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

Xuefan Gu, W. Qiu, Xueren Gao, 2020, BMC Medical Genetics.

Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.

Xuefan Gu, L. Liang, Huiwen Zhang, 2021, Journal of clinical lipidology.

Deep intronic PAH variants explain missing heritability in hyperphenylalaninemia.

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

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

Xuefan Gu, Yongguo Yu, Shanshan Xu, 2017, BMC Medical Genomics.

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.

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.