Susanne Kjaergaard

Copenhagen, 2100, Denmark

Last Updated: 09/26/2026

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Found 28 publications

Genomic medicine for preconception, prenatal and postnatal diagnostics

Genomic medicine for preconception, prenatal and postnatal diagnostics

Journal: Ugeskrift for laeger

Published: April 06, 2019

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

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

Journal: American journal of human genetics

Published: February 02, 2018

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

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

Journal: American journal of human genetics

Published: December 18, 2017

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

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

Journal: Acta obstetricia et gynecologica Scandinavica

Published: August 30, 2017

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

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

Journal: Prenatal diagnosis

Published: February 14, 2017

Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting.

Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: February 08, 2017

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

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

Journal: Prenatal diagnosis

Published: February 01, 2017

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Journal: American journal of human genetics

Published: December 21, 2016

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

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

Journal: Fetal diagnosis and therapy

Published: February 26, 2016

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

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

Journal: Prenatal diagnosis

Published: February 11, 2016

Increased nuchal translucency thickness and risk of neurodevelopmental disorders.

Increased nuchal translucency thickness and risk of neurodevelopmental disorders.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: January 18, 2016

Array-comparative genomic hybridization is a new and promising method for prenatal chromosomal diagnosis

Array-comparative genomic hybridization is a new and promising method for prenatal chromosomal diagnosis

Journal: Ugeskrift for laeger

Published: October 09, 2014

Showing 1-12 of 28

Last Updated: 09/26/2026