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Peter Gustavsson

Explore the profile of Peter Gustavsson including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 32
Citations 740
Followers 0
Related Specialties
Genetics
General Medicine
Molecular Biology
Top 10 Co-Authors
Ann Nordgren
Magnus Nordenskjold
Ellika Sahlin
Britt-Marie Anderlid
Erik Iwarsson
Daniel Nilsson
Nicholas D E Greene
Andrew J Copp
Maria Pettersson
Anna Lindstrand
Published In
Hum Mol Genet
PLoS One
Birth Defects Res A Clin Mol Teratol
Genome Med
Eur J Med Genet
Affiliations
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Recent Articles
1.
Novel findings in a Swedish primary familial brain calcification cohort
Sennfalt S, Gustavsson P, Malmgren H, Gilland E, Almqvist H, Oscarson M, et al.
J Neurol Sci . 2024 Apr; 460:123020. PMID: 38642488
Introduction: Brain calcifications are frequent findings on imaging. In a small proportion of cases, these calcifications are associated with pathogenic gene variants, hence termed primary familial brain calcification (PFBC). The...
2.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A, Ek M, Kvarnung M, Anderlid B, Bjorck E, Carlsten J, et al.
Genet Med . 2022 Sep; 24(11):2296-2307. PMID: 36066546
Purpose: Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics. Methods: We compared the results from 3 diagnostic pipelines...
3.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, et al.
Genome Med . 2021 Mar; 13(1):40. PMID: 33726816
Background: We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD)...
4.
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations
Winberg J, Gustavsson P, Sahlin E, Larsson M, Ehren H, Fossum M, et al.
Mol Genet Genomic Med . 2019 Dec; 8(2):e1084. PMID: 31837127
Background: Gastrointestinal atresias and urological defects are main causes of pediatric surgery in infants. As copy number variants (CNVs) have been shown to be involved in the development of congenital...
5.
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
Lindstrand A, Eisfeldt J, Pettersson M, Carvalho C, Kvarnung M, Grigelioniene G, et al.
Genome Med . 2019 Nov; 11(1):68. PMID: 31694722
Background: Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal...
6.
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth
Sahlin E, Green A, Gustavsson P, Lieden A, Nordenskjold M, Papadogiannakis N, et al.
PLoS One . 2019 Jan; 14(1):e0210017. PMID: 30615648
The incidence of stillbirth in Sweden has essentially remained constant since the 1980's, and despite thorough investigation, many cases remain unexplained. It has been suggested that a proportion of stillbirth...
7.
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice
de Castro S, Gustavsson P, Marshall A, Gordon W, Galea G, Nikolopoulou E, et al.
Hum Mol Genet . 2018 Sep; 27(24):4218-4230. PMID: 30189017
The genetic basis of human neural tube defects (NTDs), such as anencephaly and spina bifida (SB), is complex and heterogeneous. Grainyhead-like genes represent candidates for involvement in NTDs based on...
8.
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19
Paucar M, Bergendal A, Gustavsson P, Nordenskjold M, Laffita-Mesa J, Savitcheva I, et al.
Cerebellum . 2018 Mar; 17(4):465-476. PMID: 29527639
Spinocerebellar ataxia type 19 (SCA19), allelic with spinocerebellar ataxia type 22 (SCA22), is a rare syndrome caused by mutations in the KCND3 gene which encodes the potassium channel Kv4.3. Only...
9.
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish
Hofmeister W, Pettersson M, Kurtoglu D, Armenio M, Eisfeldt J, Papadogiannakis N, et al.
Hum Mutat . 2017 Dec; 39(4):495-505. PMID: 29285825
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high-resolution copy number screening in 66 fetuses with...
10.
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Nilsson D, Pettersson M, Gustavsson P, Forster A, Hofmeister W, Wincent J, et al.
Hum Mutat . 2016 Nov; 38(2):180-192. PMID: 27862604
Most balanced translocations are thought to result mechanistically from nonhomologous end joining or, in rare cases of recurrent events, by nonallelic homologous recombination. Here, we use low-coverage mate pair whole-genome...