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Frontiers in Genetics|April 1, 2022
Cell-Based NIPT Detects 47,XXY Genotype in a Twin PregnancyLine Dahl Jeppesen, Tina Duelund Hjortshøj, Johnny Hindkjær, et al.
Clinical Epigenetics|June 18, 2016
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypesSusanne Eriksen Boonen, Andrea Freschi, Rikke Christensen, et al.
Clinical Case Reports|December 28, 2020
Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variationsLotte Hatt, Ripudaman Singh, Rikke Christensen, 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.
European Journal of Immunology|August 20, 2022
Novel homozygous CD46 variant with C-isoform expression affects C3b inactivation in atypical hemolytic uremic syndromeVivien R Schack, Morten K Herlin, Henrik Pedersen, et al.
European Journal of Medical Genetics|March 1, 2015
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphologyAnja E Pen, Mette Nyegaard, Mingyan Fang, et al.
Prenatal Diagnosis|May 18, 2023
How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from DenmarkLotte Hatt, Katarina Ravn, Line Dahl Jeppesen, et al.
Journal of Medical Genetics|March 9, 2017
<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humansPauline Le Tanno, Julie Breton, Marie Bidart, et al.
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