List of works - Yongguo Yu

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

scientific article published on 21 January 2016

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

scientific article published on 17 December 2013

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

scientific article published on 30 November 2020

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

scientific article published on 10 July 2018

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

scientific article published on 11 January 2019

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

scientific article published on 01 January 2010

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

scientific article published on 14 March 2018

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

scientific article published on 20 December 2013

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

scientific article published on 4 January 2013

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

scientific article published on 17 August 2011

Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening

scientific article published in September 2016

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

scientific article published on 23 January 2020

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

scientific article

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

scientific article published on 21 November 2013

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

scientific article published on 16 February 2016

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

scientific article published on 25 January 2020

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

scientific article published on 16 September 2015

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

scientific article published on 15 March 2017

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

scientific article published on 13 October 2015

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

scientific article published on 10 October 2020

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

scientific article published on 01 March 2018

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

scientific article published on 24 November 2019

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

scientific article published on 11 October 2012

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

scientific article published on 17 January 2013

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

scientific article published on 06 November 2015

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

scientific article published on 19 October 2016

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

scientific article

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

scientific article published on 29 November 2011

Identification of RUNX2 variants associated with cleidocranial dysplasia

scientific article published on 16 September 2019

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

scientific article published on 28 January 2016

Maternal obesity caused by overnutrition exposure leads to reversal learning deficits and striatal disturbance in rats

scientific article

Meta-Analysis of the Association between Vitamin D Receptor Polymorphisms and the Risk of Autoimmune Thyroid Disease.

scientific article

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

scientific article

Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing

scientific article

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

scientific article

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

scientific article published on 22 August 2013

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

scientific article published on 17 March 2017

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

scientific article published on 27 February 2018

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

scientific article published on 02 February 2017

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

scientific article published on 01 August 2018

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1 ⬇️

scientific article (publication date: 2013)

Polychlorinated biphenyls disrupt the actin cytoskeleton in hippocampal neurons.

scientific article published on 17 August 2006

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

scientific article published in April 2007

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity

scientific article

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

scientific article published on 30 October 2017

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

scientific article published on 20 July 2020

Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant ⬇️

scientific article published on April 12, 2013

[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].

scientific article

[Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency]

scientific article published on 01 August 2016

List of works by Yongguo Yu

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

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

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

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

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

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

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

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

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

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

Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening

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

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

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

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

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

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

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

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

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

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

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

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

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

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

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

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

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

Identification of RUNX2 variants associated with cleidocranial dysplasia

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

Maternal obesity caused by overnutrition exposure leads to reversal learning deficits and striatal disturbance in rats

Meta-Analysis of the Association between Vitamin D Receptor Polymorphisms and the Risk of Autoimmune Thyroid Disease.

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

Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing

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

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

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

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

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

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

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1 ⬇️

Polychlorinated biphenyls disrupt the actin cytoskeleton in hippocampal neurons.

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

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity

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

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

Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant ⬇️

[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].

[Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency]