Publication Re: First-trimester risk assessment based on ultrasound and cell-free DNA vs combined screening: a randomized controlled trial. K. O. Kagan, R. Sroka, J. Sonek, H. Abele, K. Lüthgens, M. Schmid, P. Wagner, S. Brucker, D. Wallwiener and M. Hoopmann. Ultrasound Obstet Gynecol 2018; 51: 437-444.
Publication Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.
Publication Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
Publication Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Publication Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Publication Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Publication Methylation of the LEP gene promoter in blood at 12 months and BMI at 4 years of age-a population-based cohort study.
