[HTML][HTML] Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades

J Xiang, J Yang, L Chen, Q Chen, H Yang, C Sun… - Scientific reports, 2020 - nature.com
High-frequency disease-causing alleles exist, but their number is rather small. This study
aimed to interpret and reclassify common pathogenic (P) and likely pathogenic (LP) variants in …

Transcriptional regulatory framework for vascular cambium development in Arabidopsis roots

…, G Eswaran, J Alonso-Serra, M Kucukoglu, J Xiang… - Nature plants, 2019 - nature.com
Vascular cambium, a lateral plant meristem, is a central producer of woody biomass.
Although a few transcription factors have been shown to regulate cambial activity 1 , the …

AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

J Xiang, J Peng, S Baxter, Z Peng - Human Mutation, 2020 - Wiley Online Library
Jiale Xiang and Jiguang Peng contributed equally to this work. … Jiale Xiang, Jiguang Peng,
and Zhiyu Peng were employed at BGI Genomics at the time of submission. No other conflicts …

[HTML][HTML] Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

Q Wang, J Xiang, J Sun, Y Yang, J Guan, D Wang… - Genetics in …, 2019 - Elsevier
Purpose The benefits of concurrent newborn hearing and genetic screening have not been
statistically proven due to limited sample sizes and outcome data. To fill this gap, we …

Conformation locking of simple nonfused electron acceptors via multiple intramolecular noncovalent bonds to improve the performances of organic solar cells

Z Yao, Y Li, S Li, J Xiang, X Xia, X Lu… - ACS Applied Energy …, 2020 - ACS Publications
Through the molecular isomerization strategy, three simple nonfused electron acceptors (AOT1,
AOT2, and AOT3) are synthesized by altering the position of the isooctyloxy group on …

Non-fused medium bandgap electron acceptors for efficient organic photovoltaics

TJ Wen, J Xiang, N Jain, ZX Liu, Z Chen, X Xia… - Journal of Energy …, 2022 - Elsevier
The cost-effective organic semiconductors are strongly needed in organic photovoltaics (OPVs).
Herein, two medium bandgap (MBG) electron acceptors, TPT4F and TPT4Cl are …

Genomic sequencing as a first-tier screening test and outcomes of newborn screening

…, L Feng, Y Yin, B Zhu, M Sun, X Liu, J Xiang… - JAMA Network …, 2023 - jamanetwork.com
Importance Newborn screening via biochemical tests is in use worldwide. The availability of
genetic sequencing has allowed rapid screening for a substantial number of monogenic …

Concurrent hearing and genetic screening in a general newborn population

L Guo, J Xiang, L Sun, X Yan, J Yang, H Wu, K Guo… - Human genetics, 2020 - Springer
Newborn hearing screening is not designed to detect delayed-onset prelingual hearing loss
or aminoglycoside-antibiotic-induced ototoxicity. Cases with severe to profound hearing …

Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy

J Xiang, R Li, J He, X Wang, L Yao, N Song, F Fu… - American Journal of …, 2023 - Elsevier
BACKGROUND Genome-wide noninvasive prenatal testing identifies several rare autosomal
trisomies in the general obstetrical population, but its use is questioned by its low positive …

[HTML][HTML] Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

S Zhao, J Xiang, C Fan, fnm Asan, X Shang… - European journal of …, 2019 - nature.com
Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of
carriers compared with traditional tests. The aim of this study was to assess the potential …