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Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis

Hepatology (Baltimore, Md.), 2017-05, Vol.65 (5), p.1655-1669

2017

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Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis

Journal of cellular physiology, 2022-06, Vol.237 (6), p.2713-2723

2022

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TJP2 hepatobiliary disorders: Novel variants and clinical diversity

Human mutation, 2020-02, Vol.41 (2), p.502-511

2020

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MYO5B‐associated diseases: Novel liver‐related variants and genotype‐phenotype correlation

Liver international, 2022-02, Vol.42 (2), p.402-411

2022

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Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis

Human mutation, 2023, Vol.2023

2023

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Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

Journal of medical genetics, 2021-08, Vol.58 (8), p.514

2021

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A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

BMC medical genetics, 2018-08, Vol.19 (1), p.139-139, Article 139

2018

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HLA‐A02:07 Allele Associates with Clarithromycin‐Induced Cutaneous Adverse Drug Reactions in Chinese Patients

Basic & clinical pharmacology & toxicology, 2018-09, Vol.123 (3), p.308-313

2018

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Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non‐polypsis colorectal cancer: A cost‐effective screening strategy proposal

Cancer science, 2008-04, Vol.99 (4), p.770-780

2008

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Association between HLA-B∗46:01 and cutaneous adverse drug reactions in Han Chinese

Journal of bio-X research, 2018-09, Vol.1 (2), p.73-78

2018

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Transcript selection for the genetic diagnosis of KIF12-associated progressive familial intrahepatic cholestasis

Gastroenterology report, 2024, Vol.12, p.goad073-goad073

2024

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HLA-B58:01 allele is associated with augmented risk for both mild and severe cutaneous adverse reactions induced by allopurinol in Han Chinese

Pharmacogenomics, 2012-07, Vol.13 (10), p.1193

2012

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A Gene Locus Responsible for Reticulate Pigmented Anomaly of the Flexures Maps to Chromosome 17p13.3

Journal of investigative dermatology, 2006-06, Vol.126 (6), p.1297-1301

2006

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Association of AKT1 gene polymorphisms with risk of schizophrenia and with response to antipsychotics in the Chinese population

The journal of clinical psychiatry, 2007-09, Vol.68 (9), p.1358

2007

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Identification and Surgical Repair of Familial Thoracic Aortic Aneurysm and Dissection Caused by TGFBR1 Mutation

Annals of vascular surgery, 2014-11, Vol.28 (8), p.1909-1912

2014

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Serum prolactin levels, plasma risperidone levels, polymorphism of cytochrome P450 2D6 and clinical response in patients with schizophrenia

Journal of psychopharmacology (Oxford), 2007-11, Vol.21 (8), p.837-842

2007

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Association between a polymorphism of the HTR3A gene and therapeutic response to risperidone treatment in drug-naive Chinese schizophrenia patients

Pharmacogenetics and genomics, 2008-08, Vol.18 (8), p.721-727

2008

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Response of risperidone treatment may be associated with polymorphisms of HTT gene in Chinese schizophrenia patients

Neuroscience letters, 2007-02, Vol.414 (1), p.1-4

2007

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A Gene Locus Responsible for Dyschromatosis Symmetrica Hereditaria (DSH) Maps to Chromosome 6q24.2-q25.2

American journal of human genetics, 2003-08, Vol.73 (2), p.377-382

2003

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Association of DRD2 polymorphisms and chlorpromazine-induced extrapyramidal syndrome in Chinese schizophrenic patients

Acta pharmacologica Sinica, 2006-08, Vol.27 (8), p.966

2006

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Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptor gene in schizophrenia

Schizophrenia research, 2003-12, Vol.65 (1), p.9-14

2003

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Recurrent AKR1D1 c.580-13T>A Variant

The Journal of molecular diagnostics : JMD, 2023-04, Vol.25 (4), p.227-233

2023

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Association of DRD2 polymorphisms and chlorpromazine‐induced extrapyramidal syndrome in Chinese schizophrenic patients1

Acta pharmacologica Sinica, 2006-08, Vol.27 (8), p.966-970

2006

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Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency

The Journal of molecular diagnostics : JMD, 2023-04, Vol.25 (4), p.227-233

2023

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Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ 4 -3-Oxosteroid-5β-Reductase Deficiency

The Journal of molecular diagnostics : JMD, 2023-04, Vol.25 (4), p.227

2023

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Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis

Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis

TJP2 hepatobiliary disorders: Novel variants and clinical diversity

MYO5B‐associated diseases: Novel liver‐related variants and genotype‐phenotype correlation

Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

HLA‐A02:07 Allele Associates with Clarithromycin‐Induced Cutaneous Adverse Drug Reactions in Chinese Patients

Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non‐polypsis colorectal cancer: A cost‐effective screening strategy proposal

Association between HLA-B∗46:01 and cutaneous adverse drug reactions in Han Chinese

Transcript selection for the genetic diagnosis of KIF12-associated progressive familial intrahepatic cholestasis

HLA-B58:01 allele is associated with augmented risk for both mild and severe cutaneous adverse reactions induced by allopurinol in Han Chinese

A Gene Locus Responsible for Reticulate Pigmented Anomaly of the Flexures Maps to Chromosome 17p13.3

Association of AKT1 gene polymorphisms with risk of schizophrenia and with response to antipsychotics in the Chinese population

Identification and Surgical Repair of Familial Thoracic Aortic Aneurysm and Dissection Caused by TGFBR1 Mutation

Serum prolactin levels, plasma risperidone levels, polymorphism of cytochrome P450 2D6 and clinical response in patients with schizophrenia

Association between a polymorphism of the HTR3A gene and therapeutic response to risperidone treatment in drug-naive Chinese schizophrenia patients

Response of risperidone treatment may be associated with polymorphisms of HTT gene in Chinese schizophrenia patients

A Gene Locus Responsible for Dyschromatosis Symmetrica Hereditaria (DSH) Maps to Chromosome 6q24.2-q25.2

Association of DRD2 polymorphisms and chlorpromazine-induced extrapyramidal syndrome in Chinese schizophrenic patients

Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptor gene in schizophrenia

Recurrent AKR1D1 c.580-13T>A Variant

Association of DRD2 polymorphisms and chlorpromazine‐induced extrapyramidal syndrome in Chinese schizophrenic patients1

Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency

Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ 4 -3-Oxosteroid-5β-Reductase Deficiency

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