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Acta Obstetricia Et Gynecologica Scandinavica|April 20, 2020
Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature reviewOlav B Petersen, Eric Smith, Diane Van Opstal, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 5, 2025
Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal OutcomesIvonne Bedei, Johanna Bruder, Ida C B Lund, et al.
Plos One|January 28, 2014
PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencingXuchao Li, Shengpei Chen, Weiwei Xie, et al.
Ugeskrift for Laeger|March 31, 2010
[22q11 deletion syndrome]Charlotte Olesen, Peter Agergaard, Maria Boers, et al.
Plos One|January 28, 2022
Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods designJennifer Hammond, Jasmijn E Klapwijk, Sam Riedijk, et al.
European Journal of Medical Genetics|April 14, 2019
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentationsLise Graversen, Mette Møller Handrup, Melita Irving, et al.
Prenatal Diagnosis|March 16, 2021
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionalsCeline Lewis, Jennifer Hammond, Jasmijn E Klapwijk, et al.
European Journal of Human Genetics : EJHG|June 15, 2018
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndromeKarin Huijsdens-van Amsterdam, Lieve Page-Christiaens, Nicola Flowers, et al.
Frontiers in Genetics|October 13, 2023
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfallsLine Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, et al.
Scientific Reports|April 21, 2016
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionClaudio R Cortés, Aideen M McInerney-Leo, Ida Vogel, et al.
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