Arman Zhao

Long-read sequencing identified a novel nonsense and a de novo missense of PPA2 in trans in a Chinese patient with autosomal recessive infantile sudden cardiac failure.

Yiping Shen, Jian Wang, Yue-yue Ding, 2021, Clinica chimica acta; international journal of clinical chemistry.

Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review

Yiping Shen, Jian Wang, H. Lv, 2021, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: a mutational hotspot p.Trp161 and literature review.

Yiping Shen, Jian Wang, H. Lv, 2021, Clinica chimica acta; international journal of clinical chemistry.