Yongguo Yu

发表

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.

K. Sun, Sun Chen, Yongguo Yu, 2018, Molecular medicine reports.

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

N. Blau, J. Okun, G. Hoffmann, 2020, JIMD reports.

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.

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.

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

J. Hirschhorn, Yiping Shen, A. Dauber, 2015, BMC Genomics.

The Association Between STAT4 rs7574865 Polymorphism and the Susceptibility of Autoimmune Thyroid Disease: A Meta-Analysis

Yongguo Yu, Xueren Gao, Jianguo Wang, 2019, Front. Genet..

HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.

J. Lyu, Yongguo Yu, Wei Yang, 2021, Journal of genetics and genomics = Yi chuan xue bao.

MAMLD1 Gene Mutation in the Incidence of Hypospadias in the Chinese Population

Qi-hua Fu, Jian Wang, Wei Zhou, 2014 .

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

J. Hirschhorn, Yiping Shen, A. Dauber, 2014, The Journal of clinical endocrinology and metabolism.

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

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

Protective effects of insulin on polychlorinated biphenyls‐induced disruption of actin cytoskeleton in hippocampal neurons

Fei Li, Xiao-ming Shen, Chonghuai Yan, 2007, Environmental toxicology.

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.

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling

X. Mo, Xuefan Gu, N. Shen, 2020, Human mutation.

Rare Copy Number Variation Analysis in Chinese Children of Complete Atrioventricular Canal and Single Ventricle

Bo Wang, Guoling You, Xingyu Zhang, 2021 .

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 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 .

A novel JAG1 mutation in a patient with Alagille's syndrome.

Ying Wang, Yongguo Yu, Jian Wang, 2010, Pathology.

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.

Clinical remission of myopathy with MYH2 deficiency after precision medicine-developed rehabilitation: a case report.

Yongguo Yu, Nan Chen, Q. Du, 2018, American journal of translational research.

Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB

Xuefan Gu, Yongguo Yu, Yanjie Fan, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

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.

The Fas/Fas Ligand Death Receptor Pathway Contributes to Phenylalanine-Induced Apoptosis in Cortical Neurons

Peirong Yang, Tingting Yu, Zhongwei Lv, 2013, PloS one.

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

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

A novel CHD7 mutation in a Chinese patient with CHARGE syndrome

X. Mo, Tingting Yu, Yongguo Yu, 2014, Meta gene.

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.

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.

Next-generation sequencing as a second-tier diagnostic test for newborn screening

Xuefan Gu, Yongguo Yu, Yanjie Fan, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia

Yiping Shen, X. Mo, Tingting Yu, 2013, Cellular Physiology and Biochemistry.

X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.

Yiping Shen, Tingting Yu, Jian Wang, 2016, Molecular medicine reports.

Diagnostic value of multiple café‐au‐lait macules for neurofibromatosis 1 in Chinese children

Yiping Shen, Jian Wang, Yongguo Yu, 2016, The Journal of dermatology.

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.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

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..

A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment

Jian Wang, You-ying Mao, Yongguo Yu, 2021, Clinical Rheumatology.

Systematical analysis of nine Chinese patients with progressive pseudorheumatoid dysplasia and assessment of calcitriol treatment

Wei Zhou, Jian Wang, You-ying Mao, 2020 .

Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.

Yiping Shen, Yiping Shen, Bai-Lin Wu, 2012, Clinical chemistry.

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.

Faculty Opinions recommendation of Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation.

Jidong Zhu, Jingjing Xie, Dan Li, 2020, Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature.

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.

Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder

Yongguo Yu, Yanjie Fan, Lili Wang, 2018, Front. Genet..

Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray

Yiping Shen, Xuefan Gu, Yongguo Yu, 2016, Molecular Cytogenetics.

A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome.

Guoling You, Yongguo Yu, Xiaoqing Zhang, 2018, Clinica chimica acta; international journal of clinical chemistry.

Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.

Peirong Yang, Jian Wang, Ying Wang, 2011, Genetic testing and molecular biomarkers.

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.

Screening for Coding Variants in FTO and SH2B1 Genes in Chinese Patients with Obesity

Yiping Shen, Yongguo Yu, R. Yao, 2013, PloS one.

Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.

E. Demerath, J. Hirschhorn, Y. Meng, 2011, American journal of human genetics.

Age- and gender-dependent obesity in individuals with 16p11.2 deletion.

Yiping Shen, David T. Miller, O. Platt, 2011, Journal of genetics and genomics = Yi chuan xue bao.

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

Tingting Yu, Jian Wang, Yongguo Yu, 2014, Molecular medicine reports.

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.

Yongguo Yu, Xing-ming Jin, R. Yao, 2013, Gene.

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.

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.

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

Caihua Li, Yongguo Yu, Lei Ying, 2013, Gene.

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.

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

Tingting Yu, Jian Wang, Yongguo Yu, 2013, PloS one.

The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling

Bin Zhou, K. Sun, Alex F. Chen, 2021, Cell Death & Disease.

Genome-wide detection of natural selection in African Americans pre- and post-admixture.

Yiping Shen, Li Jin, Wenfei Jin, 2012, Genome research.

Identification of RUNX2 variants associated with cleidocranial dysplasia

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

Polychlorinated biphenyls disrupt the actin cytoskeleton in hippocampal neurons.

Fei Li, Xiao-ming Shen, Chonghuai Yan, 2007, Environmental toxicology and pharmacology.

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.

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.

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.

Editorial: Ion channels and transporters in epilepsy: From genes and mechanisms to disease-targeted therapies

T. Stauber, Yuwu Jiang, Yongguo Yu, 2022, Frontiers in Molecular Neuroscience.

22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion.

Yongguo Yu, Bi-ru Li, J. Qian, 2014, Gene.

Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview

Xuefan Gu, Yongguo Yu, Deyun Lu, 2020, Molecular genetics & genomic medicine.

Evaluation of basal sex hormone levels for activation of the hypothalamic–pituitary–gonadal axis

Peirong Yang, Shijian Liu, Yongguo Yu, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

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.

Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

Bo Wang, Guoling You, Xingyu Zhang, 2021, BMC medical genomics.

Deep intronic PAH variants explain missing heritability in hyperphenylalaninemia.

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

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.

A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses

Yining Zhao, Yongguo Yu, Guofeng Xu, 2022, World Journal of Urology.

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.

Maternal Obesity Caused by Overnutrition Exposure Leads to Reversal Learning Deficits and Striatal Disturbance in Rats

Fei Li, Wei-Guang Li, Yongguo Yu, 2013, PloS one.

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones

Yongguo Yu, Guofeng Xu, Hongquan Geng, 2018, World Journal of Urology.

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.

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

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

Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia

Tingting Yu, Jian Wang, Yongguo Yu, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray

Yiping Shen, Xuefan Gu, Yongguo Yu, 2016, Molecular Cytogenetics.

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.