A5069084318- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA Research and Splicing
- Reproductive System and Pregnancy
- MicroRNA in disease regulation
- Immune Response and Inflammation
- Neurogenetic and Muscular Disorders Research
- Chromosomal and Genetic Variations
- Parvovirus B19 Infection Studies
- Platelet Disorders and Treatments
- Epigenetics and DNA Methylation
- Genetic and Kidney Cyst Diseases
- Muscle Physiology and Disorders
- Genetic and rare skin diseases.
- Single-cell and spatial transcriptomics
- Tumors and Oncological Cases
- interferon and immune responses
- Sperm and Testicular Function
University of Illinois Chicago
2025
Women's Hospital, School of Medicine, Zhejiang University
2014-2024
Zhejiang University
2009-2024
Ministry of Education of the People's Republic of China
2014-2024
Introduction: LDL cholesterol (LDLC) is highly heritable, and understanding its mechanism crucial for cardiovascular disease treatment prevention. While multi-omics data widely available, integrating different omics in etiologic research of LDLC limited due to computational challenge. Machine learning (ML) methods can address the challenge but are primarily used risk prediction, their “black box” nature complicates model interpretation. Hypotheses: We hypothesized that top important single...
Abstract Recent advances in Bionano optical mapping (BOM) provide a great insight into the determination of structural variants (SVs), but its utility identification clinical likely pathogenic needs to be further demonstrated and proved. In family with two consecutive pregnancies affected ventriculomegaly, splicing variant at LAMA1 locus (NM_005559: c. 4663 + 1 G > C) inherited from father was identified proband by whole-exome sequencing, no other associated phenotypes detected. SV...
Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such T21, T18, T13, with low false positive negative rates. Unfortunately, recent studies suggested that the NIPT achieved lower accuracy in sex chromosomal (SCAs) detection than autosomal detection. BGISEQ-500 powered by Combinatorial Probe-Anchor Synthesis (CPAS) DNA Nanoballs (DNBs) technology combined linear amplification...
X-linked hydrocephalus (XLH), a genetic disorder, has an incidence of 1/30,000 male births. The great proportion XLH is ascribed to loss function mutations L1 cell adhesion molecule gene (L1CAM), but silent in L1CAM with pathogenic potential were rare, and usually ignored especially WES detection. In the present study, we describe novel mutation Chinese pregnant woman reporting continuous five times pregnancies fetal hydrocephalus. After blood sampling, found c.453G>T (p.Gly151=) fetus by...
Recent advances in semiconductor sequencing platform (SSP) have provided new methods for preimplantation genetic diagnosis/screening (PGD/S). The present study aimed to evaluate the applicability and efficiency of SSP PGD/S. artificial positive single-cell-like DNAs normal single-cell samples were chosen test our (SSP-PGD/S) method with two widely used whole-genome amplification (WGA) kits. A total 557 single blastomeres collected from vitro fertilization (IVF) couples, their WGA products...
Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) IIIa (CD61). and are encoded ITGA2B ITGB3 genes, respectively. Herein, we described 7-year-old Chinese boy consanguineous couple who was diagnosed with GT based on typical clinical manifestations, absence blood clot retraction reduced expression CD41 CD61 platelets. A homozygous silent variant c.1431C > T...
Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, skewed XCI XCI-escaping gene SHOX regulation is unclear. Here, we focused on a heterozygous deletion enhancer with clinical heterogeneity. Using SNP array, detected that female proband Leri-Weill dyschondrosteosis (LWD) carried 857 kb Xp22.3 (encompassing enhancer) and 5,707 large-fragment Xq25q26. analysis revealed Xq25q26 was completely inactivated, which forced...
<h3>Background</h3> Low-pass genome sequencing (LP GS) is an alternative to chromosomal microarray analysis (CMA). However, validations of LP GS as a prenatal diagnostic test for amniotic fluid are rare. Moreover, depth in diagnosis has not been evaluated. <h3>Objective</h3> The performance was compared with CMA using 375 samples. Then, evaluated by downsampling. <h3>Results</h3> and had the same yield (8.3%, 31/375). showed all copy number variations (CNVs) detected six additional variant...
Asparagine synthetase deficiency (ASNSD) is a rare congenital disorder characterized by severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD caused variations of the ASNS gene. The present study showed Chinese family with fetus suffering microcephaly. Whole-exome sequencing Sanger were used to identify disease-associated genetic variants. Compound heterozygous variants c.97C&gt;T p. (R33C) c.1031-2_1033del identified in gene...
Abstract Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia that primarily affects females. The only known causative gene IKBKG , and the most common genetic cause recurrent △4–10 deletion resulting from recombination between two MER67B repeats. Detection of variants in challenging due to presence highly homologous non-pathogenic pseudogene IKBKGP1 . In this study, we successfully identified four pathogenic IP patients using strategy based on single-tube long...
Abstract Background Down syndrome (DS), which is characterized by various malfunctions, the most common chromosomal disorder. As DS population continues to grow and of those with live beyond puberty, early‐onset health problems have become apparent. However, cellular landscape molecular alterations not been thoroughly studied. Methods This study utilized single‐cell resolution techniques examine in humans mice, spanning seven distinct organs. A total 71 934 mouse 98 207 human cells were...
The aim of this study was to validate the results two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) using invasive methods, providing clinical performance NIPS on chromosome microduplication detection.NIPS performed diagnose syndrome. Amniocentesis or cordocentesis confirm positive result syndrome cases. Fetal sample karyotyping, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP Array). Parental karyotyping FISH were also carried...
Xq28 duplication syndrome (MIM# 300815) is a severe neurodevelopmental disorder in males due to MeCP2 overexpression. Most females with MECP2 are asymptomatic carriers, but there phenotypic heterogeneities. Skewed X-chromosome inactivation (XCI) can protect from exhibiting clinical phenotypes. Herein we reported two (mother and grandmother) interstitial duplication. AR RP2 assays showed that both had extremely skewed XCI, the duplicated chromosome was inactivated mother, surprisingly...
Pericentric inversion can produce recombinant gametes; however, meiotic segregation studies on the relationship between frequency of recombinants and inverted segment size are rare. Triple-color fluorescence in situ hybridization (FISH) was performed to analyze behavior five inv(1) carriers with different breakpoints. Recombination gametes were absent Patient 1, whereas percentages Patients 2, 3, 4, 5 9.2%, 15.3%, 17.3%, 40.9%, respectively. A significant difference present for frequencies...
Abstract Background So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, widely used to screen aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of 8 mosaicism (T8M), was initially identified via cffDNA screening noninvasive prenatal testing (NIPT). Methods A 35-year-old woman received at 17th week gestation. Amniocentesis performed subsequently, karyotyping, single-nucleotide polymorphism array (SNP-array)...
To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques.Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied conjunction for the prenatal diagnosis of fetus.SNP Array detected 4.03 Mb microdeletion at 22q13.31q13.33 fetus, which was confirmed by FISH and MLPA. analysis parents suggested that deletion has de novo origin.Combined use techniques can enable...
FOXP1 syndrome is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language with or without autistic features. Several splicing variants have been reported for this condition, but most of them lack functional evidence, the actual effects sequence changes are still unknown. In study, de novo variant (c.1652 + 5 G&gt;A) gene was identified in patient mild speech Assessed TA-cloning, promoted skipping exon 18 premature stop codon...
Skewed XCI plays an important role in the phenotypic heterogeneities of many X-linked disorders, even involving diseases caused by XCI-escaping genes. DDX3X-related intellectual disability is more common females and less males, who usually inherit from unaffected heterozygous mothers. As X inactivation (XCI) escaping gene, skewed phenotype DDX3X mutant female unknown. Here we reported a DDX3X: c.694_711dup18 de novo mutation with on maternal chromosome basis SNPs detected PCR-sanger...
Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, relationship between chromosomal aberrations is still unclear. This study was investigate incidence characteristics in infertile men, explore whether there a correlation defects A 7-year retrospective conducted on 5465 men with nonobstructive azoospermia or oligozoospermia. Karyotype analysis peripheral blood lymphocytes performed by standard...
Abstract Background Synonymous variants are non‐pathogenic due to non‐substitution of amino acids. However, synonymous exonic terminal nucleotide substitutions may affect splicing. Splicing easily analyzed at RNA level for genes expressed in blood cells. Minigene analysis provides another method splicing variant that poorly or not peripheral blood. Methods Whole exome sequencing was performed screen potential pathogenic mutations the proband, which were validated within family by Sanger...