List of works - Rosanna Weksberg

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

scientific article published in February 2011

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families

scientific article published on November 2014

A large data resource of genomic copy number variation across neurodevelopmental disorders

scientific article published on 07 October 2019

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

scientific article

An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition

scientific article published on 16 April 2021

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

scientific article

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

scientific article published on 29 March 2018

Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses

scientific article published on 05 October 2020

Clinically relevant copy number variations detected in cerebral palsy

scientific article

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

scientific article published on 01 April 2022

Epigenetic signatures in overgrowth syndromes: Translational opportunities

scientific article published on 16 October 2019

Expanding the neurodevelopmental phenotypes of individuals with de novo variants

scientific article published on 26 April 2019

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

scientific article published on 16 July 2019

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

Genome-wide characteristics of de novo mutations in autism

scientific article published on August 2016

Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity

scientific article published on 05 July 2018

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome

scientific article published on 4 July 2016

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

scientific article published on 09 August 2019

Human chromosome 7: DNA sequence and biology

scientific article

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32

scientific article (publication date: 15 July 2002)

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

scientific article

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

scientific article published on September 2015

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome

scientific article (publication date: February 2002)

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.

scientific article

Parents' perspectives on participating in genetic research in autism

scientific article published on March 2013

Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay

scientific article published on 14 July 2018

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

scientific article published on 16 February 2018

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

scientific article

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder

scientific article published on 29 June 2011

Rare SUZ12 variants commonly cause an overgrowth phenotype

scientific article published on 17 November 2019

SHANK1 Deletions in Males with Autism Spectrum Disorder

scientific article

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

scientific article published on 01 November 2009

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

scientific article published on 16 November 2011

Structural variation of chromosomes in autism spectrum disorder

scientific article

The cycle of genome-directed medicine

scientific article published on 02 February 2009

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

scientific article published on 27 April 2021

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

scientific article

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

scientific article published on 6 March 2017

Whole-genome sequencing of quartet families with autism spectrum disorder

scientific article published on 26 January 2015

List of works by Rosanna Weksberg

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families

A large data resource of genomic copy number variation across neurodevelopmental disorders

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses

Clinically relevant copy number variations detected in cerebral palsy

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Epigenetic signatures in overgrowth syndromes: Translational opportunities

Expanding the neurodevelopmental phenotypes of individuals with de novo variants

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

Functional impact of global rare copy number variation in autism spectrum disorders

Genome-wide characteristics of de novo mutations in autism

Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

Human chromosome 7: DNA sequence and biology

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.

Parents' perspectives on participating in genetic research in autism

Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder

Rare SUZ12 variants commonly cause an overgrowth phenotype

SHANK1 Deletions in Males with Autism Spectrum Disorder

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

Structural variation of chromosomes in autism spectrum disorder

The cycle of genome-directed medicine

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Whole-genome sequencing of quartet families with autism spectrum disorder