Maria Wilbe

Uppsala, C, Sweden

Last Updated: 09/26/2026

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Found 18 publications

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

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 rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

Journal: European journal of human genetics : EJHG

Published: April 28, 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

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

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Journal: Prenatal diagnosis

Published: June 01, 2017

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Journal: Clinical genetics

Published: December 20, 2016

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Journal: Human molecular genetics

Published: November 14, 2016

Showing 1-12 of 18

Last Updated: 09/26/2026