Marie-louise Bondeson

Uppsala, C 75185, Sweden

Last Updated: 09/26/2026

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Found 20 publications

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Journal: Genome research

Published: April 25, 2024

Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.

Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.

Journal: Journal of medical genetics

Published: April 02, 2023

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

Journal: European journal of human genetics : EJHG

Published: July 16, 2022

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.

Journal: Scientific reports

Published: April 12, 2022

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

Journal: American journal of medical genetics. Part A

Published: October 06, 2021

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.

Journal: Genome biology

Published: April 03, 2020

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.

Journal: BMC medical genetics

Published: September 18, 2019

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.

Journal: Scientific reports

Published: September 27, 2018

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Journal: European journal of medical genetics

Published: March 06, 2018

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Journal: Human mutation

Published: December 01, 2017

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Journal: American journal of medical genetics. Part A

Published: November 21, 2017

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.

Journal: Hereditas

Published: August 14, 2017

Showing 1-12 of 20

Last Updated: 09/26/2026