List of works - Sau Wai Cheung

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

scientific article

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

scientific article

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

scientific article published on 23 April 2015

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

scientific article published in February 2017

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

scientific article published in Nature Communications

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

scientific article

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

scientific article published on 24 June 2020

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

scientific article

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

scientific article published on January 2009

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events ⬇️

scientific article published on October 5, 2012

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

scientific article published on 22 May 2013

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

scientific article published on 13 December 2012

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

scientific article published on 26 March 2009

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

scientific article

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

scientific article

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

scientific article

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

DUF1220-domain copy number implicated in human brain-size pathology and evolution

scientific article

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

scientific article published on 27 January 2016

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

scientific article published on September 2010

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

scientific article published on 16 May 2013

Detection of clinically relevant exonic copy-number changes by array CGH.

scientific article

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

scientific article

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

scientific article

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article published on 28 June 2017

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

scientific article (publication date: 2013)

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

scientific article

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization ⬇️

scientific article published on August 14, 2012

Identification of novel candidate disease genes from de novo exonic copy number variants.

scientific article published on 21 September 2017

Incidental copy-number variants identified by routine genome testing in a clinical population

scientific article published on 09 August 2012

Increased LIS1 expression affects human and mouse brain development

scientific article

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

scientific article published in December 2006

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

scientific article published in May 2010

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

scientific article published on 23 April 2019

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

scientific article

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

scientific article published on 2 October 2011

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

scientific article published on 26 August 2019

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

scientific article published on 15 May 2007

Mechanisms for Complex Chromosomal Insertions.

scientific article

Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA

scientific article published on 26 March 2009

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

scientific article

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

scientific article published on 17 March 2009

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

scientific article published on 29 April 2012

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

scientific article published on 08 May 2013

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

scientific article

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

scientific article

Novel applications of array comparative genomic hybridization in molecular diagnostics

scientific article published on 31 May 2018

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

scientific article published on 06 May 2020

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

scientific article

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

scientific article published on 01 December 2007

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

scientific article published on 29 August 2012

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

scientific article

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

scientific article (publication date: 12 November 2009)

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

scientific article published on 26 June 2009

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

scientific article

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

scientific article published in July 2007

The phenotype of recurrent 10q22q23 deletions and duplications

scientific article

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

scientific article published on 14 November 2019

List of works by Sau Wai Cheung

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events ⬇️

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

Cytogenetically visible inversions are formed by multiple molecular mechanisms

DUF1220-domain copy number implicated in human brain-size pathology and evolution

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Detection of clinically relevant exonic copy-number changes by array CGH.

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization ⬇️

Identification of novel candidate disease genes from de novo exonic copy number variants.

Incidental copy-number variants identified by routine genome testing in a clinical population

Increased LIS1 expression affects human and mouse brain development

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

Mechanisms for Complex Chromosomal Insertions.

Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Novel applications of array comparative genomic hybridization in molecular diagnostics

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

The phenotype of recurrent 10q22q23 deletions and duplications

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome