X. Fan

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Common genetic polymorphisms at three loci affect HbF levels in β-thalassemia patients from Southern China.

Qi Yang, Sheng Yi, Jingsi Luo, 2016, Blood cells, molecules & diseases.

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

Yiping Shen, Xuefan Gu, Xuyun Hu, 2016, Molecular and Cellular Endocrinology.

Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.

Shaoke Chen, Jingsi Luo, C. Fu, 2014, Arquivos brasileiros de endocrinologia e metabologia.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

Yiping Shen, Z. Qin, Jiasun Su, 2020, BMC Medical Genetics.

DNA Hypermethylation and a Specific Methylation Spectrum on the X Chromosome in Turner Syndrome as Determined by Nanopore Sequencing

C. Gong, Liya Wei, B. Cao, 2022, Journal of personalized medicine.

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3) The made this article openly available. Please share how this access benefits you. Your story matters

Yiping Shen, Xuyun Hu, Shaoke Chen, 2015 .

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)

Yiping Shen, Xuyun Hu, Shaoke Chen, 2014, Molecular Cytogenetics.

Novel pathogenic ACAN variants in non-syndromic short stature patients.

Yiping Shen, Tingting Yu, Jian Wang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

A. Kolevzon, L. Soorya, M. Breen, 2022, medRxiv.

α+-Thalassemia Caused by an 811 bp Deletion in Individuals from Nanning, Guangxi: A Report of Two Cases

Wanjun Zhou, Qiang Zhang, X. Fan, 2017, Hemoglobin.

Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and − −SEA/αα

Wanjun Zhou, Qiang Zhang, X. Fan, 2017, Hemoglobin.

A novel variant of IHH in a Chinese family with brachydactyly type 1

Yiping Shen, J. Lan, Xiao-Xian Tian, 2019, BMC Medical Genetics.

A novel pathogenic variant of IHH for Brachydactyly type A1

Yiping Shen, J. Lan, Mengting Li, 2019 .

A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33.

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Gene.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

Asan, Huanming Yang, Jian Wang, 2017, EBioMedicine.

REPORT Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

Feng Zhang, S. Jhangiani, Zhihong Wu, 2022 .

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

Shaoke Chen, S. Luo, Z. Qin, 2018, Scientific Reports.

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

Z. Qin, Qinle Zhang, Mengting Li, 2019, BMC Medical Genetics.

Core clinical symptoms and heterogeneous manifestations of NS / LAH: three case reports and review of the literature

Shaoke Chen, Z. Qin, Qiang Zhang, 2020 .

Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

S. Sooranna, Shaoke Chen, X. Fan, 2015, Global pediatric health.

A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability.

Meng Li, Z. Qin, Qinle Zhang, 2020, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Delineation of dual molecular diagnosis in patients with skeletal deformity

Zhihong Wu, G. Qiu, N. Wu, 2022, Orphanet Journal of Rare Diseases.

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1

Z. Qin, Qinle Zhang, Qi Yang, 2018, Molecular medicine reports.

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Yiping Shen, C. Gong, Li-na Song, 2018, Gene.

Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia

Z. Qin, Mengting Li, Qi Yang, 2020, Molecular genetics & genomic medicine.

Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature

Zhihong Wu, Hengqiang Zhao, N. Wu, 2021, Frontiers in Cell and Developmental Biology.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of human genetics.

Mosaic UPD(7q)mat in a patient with silver Russell syndrome

Yiping Shen, Z. Qin, Jiasun Su, 2017, Molecular Cytogenetics.

Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Clinica chimica acta; international journal of clinical chemistry.

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2016, Clinica chimica acta; international journal of clinical chemistry.

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Xuefan Gu, Xuyun Hu, Shaoke Chen, 2016, BMJ Open.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Yiping Shen, Xuyun Hu, Shaoke Chen, 2015, Archives of endocrinology and metabolism.

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2015, Clinica chimica acta; international journal of clinical chemistry.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome

Yuying Liang, Shaoke Chen, B. Gui, 2022, Frontiers in Genetics.

Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients

Zhihong Wu, Hengqiang Zhao, N. Wu, 2021, Frontiers in Endocrinology.

Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature

C. Gong, B. Cao, Lele Li, 2022, Journal of personalized medicine.

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations.

P. Agrawal, Shaoke Chen, S. Luo, 2019, Clinica chimica acta; international journal of clinical chemistry.

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Molecular Cytogenetics.

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

Yiping Shen, Jian Wang, C. Gong, 2017, Clinica chimica acta; international journal of clinical chemistry.

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family

Shaoke Chen, B. Gui, B. Xie, 2022, Molecular genetics & genomic medicine.

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy

Yiping Shen, Z. Qin, Shang Yi, 2020, Molecular medicine reports.

The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH

Xuyun Hu, Shaoke Chen, Jiasun Su, 2017, Endocrine connections.

Epidemiology and Phenotypic Characteristics of Dual Molecular Diagnosis Cases in Skeletal Abnormality

Zhihong Wu, G. Qiu, N. Wu, 2021 .

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

J. Lupski, Zhihong Wu, Shuyang Zhang, 2021, Journal of genetics and genomics = Yi chuan xue bao.

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder

Yiping Shen, Xin Fan, Wenyong Wu, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

de novo interstitial deletions at the 11q23.3-q24.2 region

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Molecular Cytogenetics.

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Yiping Shen, Jiahai Shi, P. Agrawal, 2018, Molecular genetics and metabolism reports.

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant

Shaoke Chen, Z. Qin, Qiang Zhang, 2020, Medicine.

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

Shaoke Chen, S. Luo, Z. Qin, 2018, Scientific Reports.

Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population

Qunyuan Zhang, A. Hamvas, D. Wegner, 2018, World Journal of Pediatrics.

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome

Yiping Shen, Shaoke Chen, Jingsi Luo, 2015, BMC Medical Genetics.

[Epidemiological study on the association between obesity with metabolic syndrome in obese children and adolescents of Nanning city, Guangxi].

Yingfen Qin, Shao-ke Chen, X. Fan, 2011, Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi.

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

Mengting Li, Qiang Zhang, Shang Yi, 2020, Frontiers in Genetics.

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism

Yiping Shen, X. Fan, H. Zheng, 2015, Journal of Endocrinological Investigation.

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2017, Clinica chimica acta; international journal of clinical chemistry.

A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema

C. Gong, Xu Hu, B. Cao, 2019, Chinese Medical Journal.

[Application of SNP-array technology in the genetic analysis of pediatric patients with growth retardation].

Xuyun Hu, Shaoke Chen, S. Luo, 2017, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.