Qingming Wang - Publications

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.

Journal: Molecular genetics & genomic medicine

Published: January 25, 2026

Case Report: a novel homozygous ASNS variant in a Chinese female with severe microcephaly, encephalopathy and epilepsy.

Journal: Frontiers in neuroscience

Published: February 14, 2025

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient.

Journal: Frontiers in genetics

Published: January 22, 2025

TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.

Journal: Orphanet journal of rare diseases

Published: June 27, 2024

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.

Journal: BMC pediatrics

Published: September 20, 2023

Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: August 27, 2023

Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis.

Journal: Molecular genetics & genomic medicine

Published: March 11, 2023

RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.

Journal: Clinical genetics

Published: January 07, 2023

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair.

Journal: Frontiers in genetics

Published: September 08, 2022

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.

Journal: American journal of medical genetics. Part A

Published: June 22, 2022

Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: May 22, 2022

Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: March 22, 2022