Hans Matsson

Uppsala, C, Sweden

Last Updated: 09/26/2026

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Found 23 publications

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.

Journal: American journal of medical genetics. Part A

Published: November 11, 2025

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 19, 2024

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.

Journal: Frontiers in genetics

Published: May 22, 2023

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

Journal: BMC medical genetics

Published: November 17, 2019

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.

Journal: Human molecular genetics

Published: July 10, 2018

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort.

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort.

Journal: Human genome variation

Published: September 14, 2017

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

Journal: European journal of human genetics : EJHG

Published: June 13, 2017

Identification of NCAN as a candidate gene for developmental dyslexia.

Identification of NCAN as a candidate gene for developmental dyslexia.

Journal: Scientific reports

Published: February 09, 2017

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.

Journal: BMC pulmonary medicine

Published: June 09, 2016

Human ROBO1 regulates white matter structure in corpus callosum.

Human ROBO1 regulates white matter structure in corpus callosum.

Journal: Brain structure & function

Published: August 21, 2015

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.

Journal: Human genetics

Published: June 24, 2015

High-throughput mutational screening adds clinically important information in myelodysplastic syndromes and secondary or therapy-related acute myeloid leukemia.

High-throughput mutational screening adds clinically important information in myelodysplastic syndromes and secondary or therapy-related acute myeloid leukemia.

Journal: Haematologica

Published: March 15, 2015

Showing 1-12 of 23

Last Updated: 09/26/2026