Publications by authors named "Wenxian Yu"

7 Publications

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Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Mol Genet Genomic Med 2021 Aug 22;9(8):e1750. Epub 2021 Jul 22.

Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

Background: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by pre- and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally.

Methods: A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis. Single nucleotide polymorphism array (SNP array) was performed in the fetus, and the result was validated with multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR (qPCR).

Results: The prenatal sonographic presented with increased nuchal translucency at 13 gestational weeks, and later at 21 weeks with cleft lip and palate, heart defect, increased amniotic fluid index and over growth. A de novo 370Kb-deletion covering the 5'-UTR and exon 1 of GPC3 gene was detected in the fetus by SNP array, which was subsequently confirmed by MLPA and qPCR.

Conclusion: The de novo 370Kb hemizygous deletion of 5'-UTR and exon 1 of GPC3 results in the SGBS1 of this Chinese family. Combination of ultrasound and genetics tests helped us effectively to diagnose the prenatal cases of SGBS1. Our findings also enlarge the spectrum of mutations in GPC3 gene.
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http://dx.doi.org/10.1002/mgg3.1750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404223PMC
August 2021

Inverse synthetic aperture ladar imaging based on modified cubic phase function.

Appl Opt 2021 Mar;60(7):2014-2021

Inverse synthetic aperture imaging ladar (ISAL) can achieve high-resolution images, and yet it faces pulse-to-pulse high-order phase errors that the microwave radar can ignore. The high-order phase errors are almost caused by mechanical vibrations in general, which blur the azimuth focusing effect. This paper presents an ISAL imaging model to obtain high-resolution images. A novel modified cubic phase function (CPF) algorithm is proposed to compensate the additional high-order phase errors. Some high-resolution well-focused ISAL simulation images and real target images are shown to validate the methods. It is shown that the third-order phase errors are compensated by the distinctive digital signal process and the image entropy of real target images is reduced significantly.
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http://dx.doi.org/10.1364/AO.413512DOI Listing
March 2021

Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.

Mol Genet Genomic Med 2021 03 20;9(3):e1604. Epub 2021 Jan 20.

Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.

Background: Split hand/foot malformation (SHFM) is a congenital limb developmental disorder, which impairs the fine activities of hand/foot in the affected individuals seriously. SHFM is commonly inherited as an autosomal dominant disease with incomplete penetrance. Chromosomal aberrations such as copy number variations and translocations have been linked to SHFM. This study aimed to identify the genetic cause for three patients with bilateral hand and foot malformation in a Chinese family.

Methods: Karyotyping, single-nucleotide polymorphism (SNP) array, whole exome sequencing, whole genome sequencing, and Sanger sequencing were applied to identify the pathogenic variant.

Results: Karyotyping revealed that the three patients had balanced reciprocal translocation, 46, XX, t(3;15) (q29;q22). SNP array identified no pathogenic copy number variation in the proband. Trio-WES (fetus-mother-father) sequencing results revealed no pathogenic variants in the genes related to SHFM. Whole-genome low-coverage mate-pair sequencing (WGL-MPS), breakpoint PCR, and Sanger sequencing identified the breakpoints disrupting TP63 in the patients, but not in healthy family members.

Conclusion: This study firstly reports that a translocation breakpoint disrupting TP63 contributes to the SHFM in a Chinese family, which expands our knowledge of genetic risk and counseling underlying SHFM. It provides a basis for genetic counseling and prenatal diagnosis (preimplantation genetic diagnosis) for this family.
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http://dx.doi.org/10.1002/mgg3.1604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104154PMC
March 2021

The first case of a non-infertile female patient with Pitt-Hopkins syndrome.

Am J Med Genet A 2019 11 28;179(11):2311-2314. Epub 2019 Aug 28.

Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

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http://dx.doi.org/10.1002/ajmg.a.61325DOI Listing
November 2019

Improvement of Noise Uncertainty and Signal-To-Noise Ratio Wall in Spectrum Sensing Based on Optimal Stochastic Resonance.

Sensors (Basel) 2019 Feb 18;19(4). Epub 2019 Feb 18.

Shanghai Key Laboratory of Intelligent Sensing and Recognition, Shanghai Jiao Tong University, Shanghai 200240, China.

Noise uncertainty and signal-to-noise ratio (SNR) wall are two very serious problems in spectrum sensing of cognitive radio (CR) networks, which restrict the applications of some conventional spectrum sensing methods especially under low SNR circumstances. In this study, an optimal dynamic stochastic resonance (SR) processing method is introduced to improve the SNR of the receiving signal under certain conditions. By using the proposed method, the SNR wall can be enhanced and the sampling complexity can be reduced, accordingly the noise uncertainty of the received signal can also be decreased. Based on the well-studied overdamped bistable SR system, the theoretical analyses and the computer simulations verify the effectiveness of the proposed approach. It can extend the application scenes of the conventional energy detection especially under some serious wireless conditions especially low SNR circumstances such as deep wireless signal fading, signal shadowing and multipath fading.
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http://dx.doi.org/10.3390/s19040841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412739PMC
February 2019

Learning the Conformal Transformation Kernel for Image Recognition.

IEEE Trans Neural Netw Learn Syst 2017 01 17;28(1):149-163. Epub 2015 Dec 17.

In this paper, we present a multiclass data classifier, denoted by optimal conformal transformation kernel (OCTK), based on learning a specific kernel model, the CTK, and utilize it in two types of image recognition tasks, namely, face recognition and object categorization. We show that the learned CTK can lead to a desirable spatial geometry change in mapping data from the input space to the feature space, so that the local spatial geometry of the heterogeneous regions is magnified to favor a more refined distinguishing, while that of the homogeneous regions is compressed to neglect or suppress the intraclass variations. This nature of the learned CTK is of great benefit in image recognition, since in image recognition we always have to face a challenge that the images to be classified are with a large intraclass diversity and interclass similarity. Experiments on face recognition and object categorization show that the proposed OCTK classifier achieves the best or second best recognition result compared with that of the state-of-the-art classifiers, no matter what kind of feature or feature representation is used. In computational efficiency, the OCTK classifier can perform significantly faster than the linear support vector machine classifier (linear LIBSVM) can.
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http://dx.doi.org/10.1109/TNNLS.2015.2504538DOI Listing
January 2017

A trajectory and orientation reconstruction method for moving objects based on a moving monocular camera.

Sensors (Basel) 2015 Mar 9;15(3):5666-86. Epub 2015 Mar 9.

Shanghai Key Laboratory of Intelligent Sensing and Recognition, Shanghai Jiao Tong University, Shanghai 200240, China.

We propose a monocular trajectory intersection method to solve the problem that a monocular moving camera cannot be used for three-dimensional reconstruction of a moving object point. The necessary and sufficient condition of when this method has the unique solution is provided. An extended application of the method is to not only achieve the reconstruction of the 3D trajectory, but also to capture the orientation of the moving object, which would not be obtained by PnP problem methods due to lack of features. It is a breakthrough improvement that develops the intersection measurement from the traditional "point intersection" to "trajectory intersection" in videometrics. The trajectory of the object point can be obtained by using only linear equations without any initial value or iteration; the orientation of the object with poor conditions can also be calculated. The required condition for the existence of definite solution of this method is derived from equivalence relations of the orders of the moving trajectory equations of the object, which specifies the applicable conditions of the method. Simulation and experimental results show that it not only applies to objects moving along a straight line, or a conic and another simple trajectory, but also provides good result for more complicated trajectories, making it widely applicable.
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http://dx.doi.org/10.3390/s150305666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435126PMC
March 2015
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