T. Jiang

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.

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Z. Qin, Jiasun Su, Weiliang Lu, 2019, Molecular Cytogenetics.

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.

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

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

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort

S. Yang, W. Li, J. Luo, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.