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Haiyang Zheng

Boston Children's Hospital

12

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140

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A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

2021 Molecular Genetics & Genomic Medicine
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Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

2020 Molecular Genetics & Genomic Medicine
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Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients

2016 Clinica Chimica Acta
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Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients

2016 Clinica Chimica Acta
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Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

2016 BMJ Open
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Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients

2016 Hemoglobin
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Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

2016 Molecular and Cellular Endocrinology
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The incidence and genetic analysis of congenital hypothyroidism in Guangxi, China and the predictors for differentiating permanent and transient congenital hypothyroidism

2016
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PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

2015 Clinica Chimica Acta
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Citations (13)