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Search Results to Rosanna Weksberg

This is a "connection" page, showing the details of why an item matched the keywords from your search.


One or more keywords matched the following items that are connected to Weksberg, Rosanna

Item TypeName
Concept Genetic Testing
Academic Article An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.
Academic Article Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Academic Article Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome.
Academic Article Beckwith-Wiedemann syndrome.
Academic 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.
Academic Article Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
Academic Article The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.
Academic Article Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.
Academic Article Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Academic Article Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
Academic Article EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Academic Article Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.
Academic Article Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Academic Article Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Academic Article Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.
Academic Article Parental attitudes to genetic counseling and predictive testing for childhood cancer.
Academic Article An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor.
Academic Article Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1.

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  • Genetic Testing