Susanne Kjaergaard

Susanne Kjaergaard

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Susanne Kjaergaard

Susanne Kjaergaard

Publications by authors named "Susanne Kjaergaard"

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40Publications

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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

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening.

Fetal Diagn Ther 2017 23;41(3):209-214. Epub 2016 Jul 23.

Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1159/000448093DOI Listing
February 2018

National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark.

Acta Obstet Gynecol Scand 2018 02;97(2):195-203

Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1111/aogs.13273DOI Listing
February 2018

Correlation between Z score, fetal fraction, and sequencing reads in non-invasive prenatal testing.

Prenat Diagn 2017 09 6;37(9):943-945. Epub 2017 Aug 6.

Chromosome Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/pd.5116
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http://dx.doi.org/10.1002/pd.5116DOI Listing
September 2017

The length of Y-chromosomal sequence reads in noninvasive prenatal testing reflect allogeneic bone marrow transplant.

Prenat Diagn 2017 08 10;37(8):843-845. Epub 2017 Jul 10.

Chromosome Laboratory, Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark.

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http://dx.doi.org/10.1002/pd.5081DOI Listing
August 2017

Open source non-invasive prenatal testing platform and its performance in a public health laboratory.

Prenat Diagn 2016 Jun 24;36(6):530-6. Epub 2016 Apr 24.

Chromosome Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/pd.4819DOI Listing
June 2016

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.

Am J Med Genet A 2015 Nov 24;167A(11):2731-6. Epub 2015 Jun 24.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.37227DOI Listing
November 2015

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Am J Med Genet A 2014 Dec 24;164A(12):3027-34. Epub 2014 Sep 24.

Fédération Hospitalo-Universitaire TRANSLAD et Centre de Génétique et Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» du Grand Est, Hôpital d'Enfants, CHU Dijon, Dijon, France; Université de Bourgogne, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.36751DOI Listing
December 2014

Fetal gender adjustment decreases the expected variance in non-invasive prenatal testing analysis.

Prenat Diagn 2014 May;34(5):508-9

Department of Clinical Genetics, University Hospital Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/pd.4316DOI Listing
May 2014

Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review.

Eur J Pediatr 2013 Dec 31;172(12):1657-63. Epub 2013 Jul 31.

Department of Paediatrics and Adolescent Medicine, Juliane Marie Centre, Rigshospitalet, Copenhagen, Denmark,

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http://dx.doi.org/10.1007/s00431-013-2102-8DOI Listing
December 2013

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Am J Med Genet A 2013 Jul 22;161A(7):1594-8. Epub 2013 May 22.

Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est', Hôpital d'Enfants, CHU, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.35970DOI Listing
July 2013

45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study.

J Clin Endocrinol Metab 2012 Aug 17;97(8):E1540-9. Epub 2012 May 17.

Department of Growth and Reproduction, Rigshospitalet and Copenhagen University, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1210/jc.2012-1388DOI Listing
August 2012

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Am J Med Genet A 2012 Aug 29;158A(8):1832-6. Epub 2012 Jun 29.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35508
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http://dx.doi.org/10.1002/ajmg.a.35508DOI Listing
August 2012

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.

Eur J Med Genet 2011 Jan-Feb;54(1):67-72. Epub 2010 Oct 13.

Institute of Human Genetics, University of Bonn, Biomedizinisches Zentrum, Sigmund-Freud-Strasse 25, D-53105 Bonn, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.012DOI Listing
June 2011

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

Fam Cancer 2011 Jun;10(2):207-12

Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s10689-011-9422-5DOI Listing
June 2011

FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty.

Hum Reprod 2010 Dec 17;25(12):3134-41. Epub 2010 Oct 17.

Department of Growth and Reproduction, University of Copenhagen, GR Rigshospitalet, Copenhagen Ø, Denmark.

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http://dx.doi.org/10.1093/humrep/deq291DOI Listing
December 2010

[Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome].

Ugeskr Laeger 2008 Mar;170(14):1152-6

Kennedy Centret, Glostrup Hospital, Gynaekologisk-obstetrisk Afdeling, Glostrup.

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March 2008

Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies.

Dan Med Bull 2004 Nov;51(4):350-63

Department of Clinical Genetics, H:S Rigshospitalet, Copenhagen, Denmark.

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November 2004

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.

Prenat Diagn 2004 May;24(5):363-6

Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Section of Neurogenetics, University of Copenhagen, The Panum Institute, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/pd.875DOI Listing
May 2004

Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

Ophthalmic Genet 2003 Jun;24(2):81-8

Department of Pediatric Ophthalmology and Handicap, Copenhagen County Hospital, Glostrup, Denmark.

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http://dx.doi.org/10.1076/opge.24.2.81.13994DOI Listing
June 2003

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.

Hum Mol Genet 2002 Sep;11(19):2331-9

Institute of Physiology, University of Zürich, Winterthurerstrasse 190, 8057 Zürich, Switzerland.

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http://dx.doi.org/10.1093/hmg/11.19.2331DOI Listing
September 2002