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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, ChinaJing He, Wenhui Song, Jinlong Yang, et al.Oncology Letters|August 22, 2018
Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case reportYanyan Wang, Da Jiang, Qiang Zhao, et al.Scientific Reports|July 9, 2025
Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndromeJiale Xiang, Xiangzhong Sun, Jiguang Peng, et al.Nature Communications|October 1, 2014
Caste-specific RNA editomes in the leaf-cutting ant Acromyrmex echinatiorQiye Li, Zongji Wang, Jinmin Lian, et al.European Journal of Medical Genetics|August 31, 2019
Novel missense variant in TTN cosegregating with familial atrioventricular blockGuohui Liu, Ziying Yang, Weiwei Chen, et al.Human Genetics|February 1, 2020
Concurrent hearing and genetic screening in a general newborn populationLing Guo, Jiale Xiang, Lei Sun, et al.Prenatal Diagnosis|November 8, 2019
Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasmaLianshu Han, Chao Chen, Fengyu Guo, et al.Genomics|December 3, 2014
Genome-wide identification of RNA editing in hepatocellular carcinomaLin Kang, Xiaoqiao Liu, Zhoulin Gong, et al.Clinical Genetics|February 13, 2026
Novel Haplotype-Based Noninvasive Prenatal Diagnosis for Recessive Single-Gene Disorders: A Proof-of-Concept StudyChao Chen, Yaping Zhu, Lu Jiang, et al.Translational Lung Cancer Research|June 19, 2025
A Bayesian deep learning model with consolidation-to-tumor ratio (CTR) prior revolutionizes the prediction of spread through air spaces (STAS) in stage IA lung adenocarcinoma: a large-scale diagnostic studyJie Cao, Nan Chen, Lingyu Zhou, et al.Pageof 14