Mana M Mehrjouy

Mana M Mehrjouy

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Mana M Mehrjouy

Mana M Mehrjouy

Publications by authors named "Mana M Mehrjouy"

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17Publications

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Haploinsufficiency of ARHGAP42 is associated with hypertension.

Eur J Hum Genet 2019 Aug 21;27(8):1296-1303. Epub 2019 Mar 21.

Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark.

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http://dx.doi.org/10.1038/s41431-019-0382-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777610PMC
August 2019

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Hum Mutat 2019 08 14;40(8):1057-1062. Epub 2019 May 14.

Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/humu.23775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688968PMC
August 2019

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Am J Hum Genet 2018 06 24;102(6):1090-1103. Epub 2018 May 24.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen O, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992120PMC
June 2018

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Hum Mutat 2018 05 20;39(5):709-716. Epub 2018 Feb 20.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/humu.23408DOI Listing
May 2018

A germline chromothripsis event stably segregating in 11 individuals through three generations.

Genet Med 2016 05 27;18(5):494-500. Epub 2015 Aug 27.

Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark.

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http://dx.doi.org/10.1038/gim.2015.112DOI Listing
May 2016

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Eur J Hum Genet 2015 Dec 25;23(12):1646-51. Epub 2015 Mar 25.

Clinical Genetics Clinic, The Kennedy Center, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.

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http://dx.doi.org/10.1038/ejhg.2015.54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795208PMC
December 2015