[HTML][HTML] Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades
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 …
aimed to interpret and reclassify common pathogenic (P) and likely pathogenic (LP) variants in …
Transcriptional regulatory framework for vascular cambium development in Arabidopsis roots
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 …
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 …
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 …
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
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 …
AOT2, and AOT3) are synthesized by altering the position of the isooctyloxy group on …
Non-fused medium bandgap electron acceptors for efficient organic photovoltaics
The cost-effective organic semiconductors are strongly needed in organic photovoltaics (OPVs).
Herein, two medium bandgap (MBG) electron acceptors, TPT4F and TPT4Cl are …
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 …
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 …
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 …
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 …
carriers compared with traditional tests. The aim of this study was to assess the potential …