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Identification of novel FBN1 variations implicated in congenital scoliosis

Journal of human genetics, 2020-03, Vol.65 (3), p.221-230

2020

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The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital

Thrombosis journal, 2024-06, Vol.22 (1), p.50-11

2024

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Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.288-288, Article 288

2020

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Investigating the Genetic Characteristics of Hippocampal Volume and Plasma Aβ in a Chinese Community-Dwelling Population (P1-1.Virtual)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy

BMC medical genomics, 2023-10, Vol.16 (1), p.1-253, Article 253

2023

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Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis

Frontiers in bioengineering and biotechnology, 2019-12, Vol.7, p.364-364

2019

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RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism

Chinese medical journal, 2024-01

2024

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Rare Variants of RNF213 Are Related to Intracranial Atherosclerosis but Not to Extracranial Atherosclerosis: A Study in a Chinese Community-dwelling Population (S6.002)

Neurology, 2024-04, Vol.102 (17_supplement_1)

2024

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Association Study Identified HLA‐DQA1 as a Novel Genetic Risk of Systemic Lupus Erythematosus‐Associated Pulmonary Arterial Hypertension

Arthritis & rheumatology (Hoboken, N.J.), 2023-12, Vol.75 (12), p.2207-2215

2023

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Rare RNF213 variants is related to early-onset intracranial atherosclerosis: A Chinese community-based study

Journal of stroke and cerebrovascular diseases, 2024-11, Vol.33 (11), p.107982, Article 107982

2024

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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

Human genetics, 2018-07, Vol.137 (6-7), p.553-567

2018

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Genotype--Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5[alpha]-Reductase Deficiency

International journal of general medicine, 2022-08, Vol.15, p.6633

2022

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TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

Human mutation, 2020-01, Vol.41 (1), p.182-195

2020

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Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency

International journal of general medicine, 2022-08, Vol.15, p.6633-6643

2022

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Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Risk of Intervertebral Disc Degeneration in Chinese Han Population: A Case Control Study

Medical science monitor, 2018-08, Vol.24, p.5598-5609

2018

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Molecular Classification and Prognosis of Systemic Lupus Erythematosus-Associated Pulmonary Arterial Hypertension Based on Rare Variants in Pah Risk Genes

European journal of rheumatology, 2024-05, Vol.27 (S2), p.S171

2024

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Molecular Classification and Prognosis of Systemic Lupus Erythematosus-Associated Pulmonary Arterial Hypertension Based on Rare Variants in Pah Risk Genes

European journal of rheumatology, 2024-05, Vol.11 (S2), p.S171

2024

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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

Journal of genetics and genomics, 2021-05, Vol.48 (5), p.396-402

2021

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Front Cover, Volume 41, Issue 1

Human mutation, 2020-01, Vol.41 (1), p.i-i

2020

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Research on applying genetic and environmental risk score in risk-adapted colorectal cancer screening

Zhōnghuá liúxíngbìng zázhì, 2023-06, Vol.44 (6), p.999

2023

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Evolutionary Interrogation of Human Biology in Well-Annotated Genomic Framework of Rhesus Macaque

Molecular biology and evolution, 2014-05, Vol.31 (5), p.1309-1324

2014

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Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.250-250, Article 250

2020

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RhesusBase: a knowledgebase for the monkey research community

Nucleic acids research, 2013-01, Vol.41 (Database issue), p.D892-D905

2013

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Association Study Identified HLA-DQA1 as a Novel Genetic Risk of Systemic Lupus Erythematosus-Associated Pulmonary Arterial Hypertension

SSRN Electronic Journal

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Facile synthesis of Fe3+ immobilized magnetic polydopamine-polyethyleneimine composites for phosphopeptide enrichment

Journal of Chromatography A, 2024-03, Vol.1719, p.464752, Article 464752

2024

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Identification of novel FBN1 variations implicated in congenital scoliosis

The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants

Investigating the Genetic Characteristics of Hippocampal Volume and Plasma Aβ in a Chinese Community-Dwelling Population (P1-1.Virtual)

A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy

Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis

RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism

Rare Variants of RNF213 Are Related to Intracranial Atherosclerosis but Not to Extracranial Atherosclerosis: A Study in a Chinese Community-dwelling Population (S6.002)

Association Study Identified HLA‐DQA1 as a Novel Genetic Risk of Systemic Lupus Erythematosus‐Associated Pulmonary Arterial Hypertension

Rare RNF213 variants is related to early-onset intracranial atherosclerosis: A Chinese community-based study

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

Genotype--Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5[alpha]-Reductase Deficiency

TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency

Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Risk of Intervertebral Disc Degeneration in Chinese Han Population: A Case Control Study

Molecular Classification and Prognosis of Systemic Lupus Erythematosus-Associated Pulmonary Arterial Hypertension Based on Rare Variants in Pah Risk Genes

Molecular Classification and Prognosis of Systemic Lupus Erythematosus-Associated Pulmonary Arterial Hypertension Based on Rare Variants in Pah Risk Genes

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

Front Cover, Volume 41, Issue 1

Research on applying genetic and environmental risk score in risk-adapted colorectal cancer screening

Evolutionary Interrogation of Human Biology in Well-Annotated Genomic Framework of Rhesus Macaque

Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis

RhesusBase: a knowledgebase for the monkey research community

Association Study Identified HLA-DQA1 as a Novel Genetic Risk of Systemic Lupus Erythematosus-Associated Pulmonary Arterial Hypertension

Facile synthesis of Fe3+ immobilized magnetic polydopamine-polyethyleneimine composites for phosphopeptide enrichment

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