Cytogenetically visible inversions are formed by multiple molecular mechanisms-Reference-Cited by-同舟云学术

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Published:2020-10 Issue:11 Volume:41 Page:1979-1998
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pettersson Maria¹²^ORCID,Grochowski Christopher M.³^ORCID,Wincent Josephine¹²,Eisfeldt Jesper¹⁴^ORCID,Breman Amy M.⁵,Cheung Sau W.³,Krepischi Ana C. V.⁶,Rosenberg Carla⁶,Lupski James R.³⁷⁸^ORCID,Ottosson Jesper⁹,Lovmar Lovisa⁹,Gacic Jelena¹⁰,Lundberg Elisabeth S.¹²,Nilsson Daniel¹²⁴,Carvalho Claudia M. B.³¹¹^ORCID,Lindstrand Anna¹²^ORCID

Affiliation:

1. Department of Molecular Medicine and Surgery, Center for Molecular Medicine Karolinska Institutet Stockholm Sweden

2. Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden

3. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

4. Science for Life Laboratory Karolinska Institutet Solna Sweden

5. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA

6. Department of Genetics and Evolutionary Biology, Institute of Biosciences University of São Paulo São Paulo Brazil

7. Human Genome Sequencing Center Baylor College of Medicine Houston Texas USA

8. Department of Pediatrics Texas Children's Hospital Houston Texas USA

9. Department of Clinical Genetics Sahlgrenska University Hospital Gothenburg Sweden

10. Department of Clinical Genetics Linköping University Hospital Linköping Sweden

11. Pacific Northwest Research Institute Seattle Washington USA

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Hjärnfonden

Kungliga Fysiografiska Sällskapet i Lund

Vetenskapsrådet

Foundation for the National Institutes of Health

Science for Life Laboratory

Karolinska Institutet

Stockholms Läns Landsting

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24106

Reference50 articles.

1. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

2. SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

3. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants;Bahrambeigi V.;Genome Medicine,2019

4. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

5. Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

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