Peter Gustavsson

Stockholm, AB 14186, Sweden

Last Updated: 09/26/2026

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Found 23 publications

Performance of MRI-based surveillance for high-risk individuals for pancreatic cancer.

Performance of MRI-based surveillance for high-risk individuals for pancreatic cancer.

Journal: European journal of radiology

Published: January 26, 2025

Novel findings in a Swedish primary familial brain calcification cohort.

Novel findings in a Swedish primary familial brain calcification cohort.

Journal: Journal of the neurological sciences

Published: August 30, 2023

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 18, 2022

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Journal: Genome medicine

Published: June 29, 2020

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations.

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations.

Journal: Molecular genetics & genomic medicine

Published: June 21, 2019

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

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Journal: PloS one

Published: July 06, 2018

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

Journal: Human molecular genetics

Published: June 19, 2018

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.

Journal: Cerebellum (London, England)

Published: March 13, 2018

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.

Journal: Human mutation

Published: August 22, 2017

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

Journal: Human mutation

Published: May 31, 2016

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.

Journal: PloS one

Published: February 18, 2016

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Last Updated: 09/26/2026