Johanna Lundin

Stockholm, AB, Sweden

Last Updated: 09/26/2026

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Found 18 publications

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.

Journal: American journal of medical genetics. Part A

Published: June 12, 2024

Tissue specific trisomy 15 mosaicism associated with urogenital malformations.

Tissue specific trisomy 15 mosaicism associated with urogenital malformations.

Journal: European journal of medical genetics

Published: June 12, 2023

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.

Journal: American journal of medical genetics. Part A

Published: July 04, 2022

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Journal: Genome medicine

Published: May 07, 2019

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.

Journal: Molecular genetics & genomic medicine

Published: November 05, 2018

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Journal: Molecular genetics & genomic medicine

Published: September 26, 2018

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Journal: PLoS genetics

Published: June 25, 2018

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis.

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis.

Journal: Mutation research

Published: June 14, 2018

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

Journal: Oncotarget

Published: November 26, 2017

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

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

Journal: Oncotarget

Published: July 06, 2017

NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.

NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.

Journal: Clinical immunology (Orlando, Fla.)

Published: November 29, 2016

Showing 1-12 of 18

Last Updated: 09/26/2026