W. Qiu

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.

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening

Xuefan Gu, L. Liang, Shengnan Wu, 2022, Frontiers in Genetics.

Spectrum Analysis of Common Inherited Metabolic Diseases in Chinese Patients Screened and Diagnosed by Tandem Mass Spectrometry

Xuefan Gu, Huiwen Zhang, Jun Ye, 2015, Journal of clinical laboratory analysis.

In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.

X. Mo, Qi-hua Fu, Xuefan Gu, 2019, Gene.

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

Xuefan Gu, L. Liang, Tianwen Zhu, 2013, Gene.

21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations

Xuefan Gu, L. Liang, Yongguo Yu, 2016, Steroids.

Xuefan Gu, Xiaodong Ding, Yuanwen Chen, 2015, Biochemical and biophysical research communications.

External validation of machine learning models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants

J. Little, K. Wilson, S. Hawken, 2020, Gates open research.

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.

Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

Xuefan Gu, Huiwen Zhang, Jun Ye, 2014, European journal of medical genetics.

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.

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

Xuefan Gu, Ruixu Yang, Huiwen Zhang, 2014, Orphanet Journal of Rare Diseases.

Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

Xuefan Gu, Huiwen Zhang, Jun Ye, 2014, Journal of Lipid Research.

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing

Xuefan Gu, Ruixu Yang, Huiwen Zhang, 2015, Journal of Human Genetics.

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China

Aijuan Yan, Yu Zhang, Zhenguo Liu, 2018, BMC Medical Genetics.

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.

Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia

Xuefan Gu, L. Liang, Yongguo Yu, 2016, Steroids.

Phenylketonuria-related cognitive dysfunction and its mechanism in a BTBR-Pahenu 2 mouse model

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

A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease

Benzhen Wang, Guangsong Shan, Zipu Li, 2022, Frontiers in Pharmacology.

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China

Xuefan Gu, Yanling Yang, Ya-fen Zhang, 2010, Journal of Inherited Metabolic Disease.

Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

Zhiyu Peng, X. Ji, Xuefan Gu, 2018, bioRxiv.

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.

Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.

Xuefan Gu, Zhiguo Wang, Jun Ye, 2008, Annals of the Academy of Medicine, Singapore.

Steroid profile in dried blood spots by liquid chromatography tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia in China

Xuefan Gu, Huiwen Zhang, W. Qiu, 2022, Steroids.

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening

Xuefan Gu, Shengnan Wu, Huiwen Zhang, 2015, American journal of medical genetics. Part A.

Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population

Xuefan Gu, Huiwen Zhang, Jun Ye, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

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 rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Xuefan Gu, L. Liang, Shengnan Wu, 2020, Orphanet Journal of Rare Diseases.

A rare form of Gaucher disease resulting from saposin C deficiency.

Xuefan Gu, Lulu Kang, Huiwen Zhang, 2018, Blood cells, molecules & diseases.

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.

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability

Xuefan Gu, Yongguo Yu, W. Qiu, 2016, 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.

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.

Analysis of gene mutations in Chinese patients with maple syrup urine disease.

Xuefan Gu, Ya-fen Zhang, Huiwen Zhang, 2012, Molecular genetics and metabolism.

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.

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

Xuefan Gu, L. Liang, Huiwen Zhang, 2020, Orphanet Journal of Rare Diseases.

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.

Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor

Mingyao Liu, Dali Li, N. Shen, 2020, Science China Life Sciences.

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.

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.

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.

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

Xuefan Gu, L. Liang, Shengnan Wu, 2021, Molecular genetics & genomic medicine.

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

Xuefan Gu, Jing Li, Huiwen Zhang, 2011, PloS one.

Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B

Xuefan Gu, Jiayue Hu, G. Maegawa, 2021, Human mutation.

Mutational Spectrum of Phenylketonuria in the Chinese Han Population: A Novel Insight into the Geographic Distribution of the Common Mutations

Shengying Qin, Xuefan Gu, Tianwen Zhu, 2010, Pediatric Research.

Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma

Asan, Xuefan Gu, Huiwen Zhang, 2018, Scientific Reports.

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

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

Correction to: Increasing targeting scope of adenosine base editors in mouse and rat embryos through fusion of TadA deaminase with Cas9 variants

Mingyao Liu, Dali Li, Liren Wang, 2018, Protein & Cell.

Increasing targeting scope of adenosine base editors in mouse and rat embryos through fusion of TadA deaminase with Cas9 variants

Ming-Yu Liu, Liren Wang, Rui Zheng, 2018, Protein & Cell.

Increasing targeting scope of adenosine base editors in mouse and rat embryos through fusion of TadA deaminase with Cas9 variants

Mingyao Liu, Dali Li, Liren Wang, 2018, Protein & Cell.

An open label, multicenter clinical trial that investigated the efficacy and safety of leuprorelin treatment of central precocious puberty in Chinese children

Junfen Fu, Yan Zhong, Ying Liu, 2021, Medicine.

Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

Xuefan Gu, G. Maegawa, Huiwen Zhang, 2022, Journal of inherited metabolic disease.

Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China

Xuefan Gu, Xueru Chen, Huiwen Zhang, 2016, Journal of Human Genetics.

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Xuefan Gu, Huiwen Zhang, Jun Ye, 2013, Orphanet Journal of Rare Diseases.

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.

Rapid detection of twenty-nine common Chinese glucose-6-phosphate dehydrogenase variants using a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay on dried blood spots.

Xuefan Gu, L. Liang, Yongguo Yu, 2021, Clinical biochemistry.

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

Xuefan Gu, L. Liang, Ting Chen, 2021, Frontiers in Genetics.

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.

Myxedema coma

Xiaodong Zhu, W. Qiu, Yue-niu Zhu, 2017, Medicine.

Administration Timing and Efficacy of Tocilizumab in Patients With COVID-19 and Elevated IL-6

L. Yarmus, Peng Liu, C. Bai, 2021, Frontiers in Molecular Biosciences.

Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.

Xuefan Gu, L. Liang, Huiwen Zhang, 2021, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

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.

Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.

Yongguo Yu, P. Zhao, Ying Guo, 2014, Gene.

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China

Xuefan Gu, L. Liang, Ting Chen, 2022, Frontiers in Genetics.

[Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia].

Xuefan Gu, Ya-fen Zhang, Huiwen Zhang, 2014, Zhonghua er ke za zhi = Chinese journal of pediatrics.

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

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

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell‐free DNA in maternal plasma

Zhiyu Peng, X. Ji, Xuefan Gu, 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.

Deep intronic PAH variants explain missing heritability in hyperphenylalaninemia.

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

Large‐scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease

H. Zhang, W. Qiu, X. Zhan, 2018, Clinical genetics.

One-year follow-up of thyroid function in 23 infants with Prader- Willi syndrome at a single center in China.

Xuefan Gu, Yongguo Yu, Huiwen Zhang, 2021, Intractable & rare diseases research.

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients

Xuefan Gu, L. Liang, Tianwen Zhu, 2017, Scientific Reports.

Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease

Xuefan Gu, Lulu Kang, Huiwen Zhang, 2018, Brain and Development.

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency

Xuefan Gu, L. Liang, Ting Chen, 2023, Orphanet Journal of Rare Diseases.

External validation of machine learning models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants

K. Wilson, S. Hawken, W. Cheng, 2021, Gates open research.

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

Xuefan Gu, L. Liang, Huiwen Zhang, 2021, Frontiers in Genetics.

Rapid detection of glycogen storage disease type Ia by DNA microarray

Shengying Qin, Lin He, Xuefan Gu, 2010, Clinical chemistry and laboratory medicine.

Newborn screening of maple syrup urine disease and the effect of early diagnosis.

Xuefan Gu, L. Liang, Ting Chen, 2023, Clinica chimica acta; international journal of clinical chemistry.

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.

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases

Xuefan Gu, L. Liang, Shengnan Wu, 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.

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients

Xuefan Gu, L. Liang, Tianwen Zhu, 2017, Scientific Reports.

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

Xuefan Gu, L. Liang, Yongguo Yu, 2019, Journal of clinical laboratory analysis.

Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency

Xuefan Gu, T. Wang, X. Gao, 2009, Journal of Inherited Metabolic Disease.

Late-onset cblC defect: clinical, biochemical and molecular analysis

Xuefan Gu, L. Liang, Ting Chen, 2023, Orphanet Journal of Rare Diseases.

Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.

L. Liang, W. Qiu, Deyun Lu, 2023, Journal of clinical lipidology.

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.

Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.

Xuefan Gu, L. Liang, Ting Chen, 2023, Molecular genetics and metabolism.

Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation

Zhen-an Zhu, Yin Wang, A. Oldfors, 2015, Neuromuscular Disorders.

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China

L. Liang, Ting Chen, Huiwen Zhang, 2024, Human genomics.

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome

L. Liang, W. Qiu, Z. Gong, 2024, Orphanet journal of rare diseases.