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Peter Gustavsson

Karolinska Institutet
Karolinska University Hospital

38

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774

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

2021 Genome Medicine
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Win–Win? : -En kvalitativ studie om franchisetagarens förhållningssätt till de faktorer som påverkar lönsamheten

2020
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Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

2019 PLOS ONE
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Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

2018 The Cerebellum
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Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

2017 Human Mutation
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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

2016 Scientific Reports
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Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.

2016 PLOS ONE
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Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

2014 Journal of Medical Genetics
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Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.

2014 PLOS ONE
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Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases

2014 Fetal Diagnosis and Therapy
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Citations (14)