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

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.75-75

2024

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

Journal of human genetics, 2021-04, Vol.66 (4), p.409-417

2021

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Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.126-126

2023

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

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.125-125, Article 125

2021

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

Frontiers in genetics, 2021-07, Vol.12, p.702374-702374

2021

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

Frontiers in genetics, 2021-03, Vol.12, p.577046-577046

2021

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

Frontiers in genetics, 2018-11, Vol.9, p.594-594

2018

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

Frontiers in genetics, 2022-06, Vol.13, p.898860-898860

2022

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

Cellular physiology and biochemistry, 2018-01, Vol.49 (1), p.295-305

2018

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

Frontiers in genetics, 2022-02, Vol.13, p.805599-805599

2022

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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

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.22-22, Article 22

2021

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

BMC medical genomics, 2018-05, Vol.11 (1), p.49-49, Article 49

2018

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Identification of RUNX2 variants associated with cleidocranial dysplasia

Hereditas, 2019-09, Vol.156 (1), p.31-31, Article 31

2019

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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

Molecular genetics & genomic medicine, 2021-11, Vol.9 (11), p.e1822-n/a

2021

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

Zhonghua yi xue yi chuan xue za zhi, 2015-04, Vol.32 (2), p.204

2015

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Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency

Zhong hua yi xue za zhi, 2014-09, Vol.94 (34), p.2684-2686

2014

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

Steroids, 2016-04, Vol.108, p.47-55

2016

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

Human mutation, 2022-05, Vol.43 (5), p.557-567

2022

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Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia

The Journal of molecular diagnostics : JMD, 2023-05, Vol.25 (5), p.284-294

2023

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

Clinical chemistry (Baltimore, Md.), 2020-03, Vol.66 (3), p.455-462

2020

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

Journal of medical genetics, 2024-01, Vol.61 (1), p.8

2024

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

Clinica chimica acta, 2018-06, Vol.481, p.132-138

2018

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

Molecular syndromology, 2023-02, Vol.14 (1), p.71-79

2023

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

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.107-115

2018

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

Gene, 2019-07, Vol.707, p.239-245

2019

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

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

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

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

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

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

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

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

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

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

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

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

Identification of RUNX2 variants associated with cleidocranial dysplasia

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

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

Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency

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

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

Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia

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

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

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

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

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

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

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