Matthew Hoi Kin Chau
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View article: Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory
Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory Open
G-banded chromosome analysis, also known as G-banded karyotyping, remains a fundamental and irreplaceable diagnostic modality in clinical genetic testing. G-banded karyotypes provide whole genome visualization through chromosome banding pa…
View article: Dominant negative variants in CUL1 of the ubiquitin-proteasome cause a neurodevelopmental syndrome
Dominant negative variants in CUL1 of the ubiquitin-proteasome cause a neurodevelopmental syndrome Open
CUL1 encodes a scaffolding protein of the SKP1-CUL1-F-box E3 ubiquitin ligase complex, which mediates substrate ubiquitination and proteasomal degradation. Despite CUL1’s essential roles, it has not been implicated in human disease. We ide…
View article: Characterization of Rare Genomic Structural Variants Across 2,981 Genomes Reveals Significant Involvements in Recessive Conditions
Characterization of Rare Genomic Structural Variants Across 2,981 Genomes Reveals Significant Involvements in Recessive Conditions Open
Background Genomic structural variants (SV) underlie genomic diversity and human diseases, encompassing various types of deletions/duplications and genomic rearrangements. Current methods experience challenges in precisely identifying and …
View article: P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease
P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease Open
Charcot-Marie Tooth disease (CMT) is a group of hereditary sensory polyneuropathies that characteristically result in distal muscle weakness and atrophy alongside impaired deep tendon reflexes and pes cavus formation. Symptoms typically oc…
View article: P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat
P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat Open
Kagami-Ogata syndrome (KOS) and Temple syndrome (TS) are two imprinting disorders caused by disruption to chromosome 14q32.2. Located within this region include paternally expressed genes DLK1 and RTL1, maternally expressed genes MEG3 and …
View article: P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis
P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis Open
Disease-causing copy-number variants (CNVs) often encompass large genomic regions affecting multiple contiguous genes. However, they may also affect single protein-coding and disease-associated genes, causing Mendelian disorders. Genic CNV…
View article: Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics
Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics Open
Submission of a non-biological parent together with a proband for genetic diagnosis would cause a misattributed parentage (MP), possibly leading to misinterpretation of the pathogenicity of genomic variants. Therefore, a rapid and cost-eff…
View article: A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages
A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages Open
STUDY QUESTION Can multiple-site low-pass genome sequencing (GS) of products of conception (POCs) improve the detection of genetic abnormalities, especially heterogeneously distributed mosaicism and homogeneously distributed mosaicism in f…
View article: P174: Comprehensive newborn hearing screening in generation genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome)*
P174: Comprehensive newborn hearing screening in generation genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome)* Open
View article: P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome
P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome Open
View article: TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms Open
Characterization of the specific expression and chromatin profiles of genes enables understanding how they contribute to tissue/organ development and the mechanisms leading to diseases. Whilst the number of single-cell sequencing studies i…
View article: Mate-pair genome sequencing reveals structural variants for idiopathic male infertility
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility Open
Currently, routine genetic investigation for males with infertility includes karyotyping analysis and PCR for Y chromosomal microdeletions to provide prognostic information such as sperm retrieval success rate. However, over 85% of the cas…
View article: The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing
The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing Open
Recent advances in genomic sequencing technologies have expanded practitioners’ utilization of genetic information in a timely and efficient manner for an accurate diagnosis. With an ever-increasing resource of genomic data from progress i…
View article: Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders Open
Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (su…
View article: Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing
Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing Open
Apparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1% of azoospermia or severe oligospermia. However, the underlying mechanisms of pathogenesis and etiologies are sti…
View article: Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis
Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis Open
Background: Low-pass genome sequencing (GS) detects clinically significant copy number variants (CNVs) in prenatal diagnosis. However, detection at improved resolutions leads to an increase in the number of CNVs identified, increasing the …
View article: Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics
Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics Open
View article: Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review
Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review Open
Trisomy 7 is the most frequently observed type of rare autosomal trisomies in genome-wide non-invasive prenatal screening (NIPS). Currently, the clinical significance of trisomy 7 NIPS-positive results is still unknown. We reviewed two ind…
View article: The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings
The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings Open
Introduction Chromosomal microarray analysis is recommended as the first‐tier test for the evaluation of fetuses with structural anomalies. This study aims to investigate the incremental diagnostic yield of chromosomal microarray over conv…
View article: Clinical utility of expanded non‐invasive prenatal screening and chromosomal microarray analysis in high‐risk pregnancy
Clinical utility of expanded non‐invasive prenatal screening and chromosomal microarray analysis in high‐risk pregnancy Open
Objective To evaluate the utility of expanded non‐invasive prenatal screening (NIPS), compared with chromosomal microarray analysis (CMA), for the detection of chromosomal abnormalities in high‐risk pregnancies. Methods This was a multicen…
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View article: Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis Open
View article: Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis Open
Background: Increased nuchal translucency (NT) is an important biomarker associated with increased risk of fetal structural anomalies. It is known to be contributed by a wide range of genetic etiologies from single-nucleotide varian…
View article: Prenatal Diagnosis of Fetuses with Increased Nuchal Translucency by Genome Sequencing Analysis
Prenatal Diagnosis of Fetuses with Increased Nuchal Translucency by Genome Sequencing Analysis Open
Background Increased Nuchal Translucency (NT) is an important biomarker associated with increased risk of fetal structural anomalies. It is known to be contributed by a wide range of genetic etiologies from single nucleotide variants to th…