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Molecular Genetics and Metabolism Reports|July 5, 2022
Allan-Herndon-Dudley syndrome in a female patient and related mechanismsCaroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, et al.Children (Basel, Switzerland)|August 29, 2024
Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern BelgiumTamara Dangouloff, Kristine Hovhannesyan, Davood Mashhadizadeh, et al.International Ophthalmology Clinics|September 25, 2025
Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby DetectPaulina Bartoszek, François Boemer, Kristine Hovhannesyan, et al.International Journal of Neonatal Screening|October 24, 2025
Analytical Validation of a Genomic Newborn Screening WorkflowKristine Hovhannesyan, Laura Helou, Benoit Charloteaux, et al.Nature Medicine|January 28, 2025
Population-based, first-tier genomic newborn screening in the maternity wardFrançois Boemer, Kristine Hovhannesyan, Flavia Piazzon, et al.Journal of Clinical Ultrasound : JCU|November 14, 2020
Sonography of the distal femoral epiphysis in the etiological diagnosis of congenital hypothyroidismRonald Freire, Marina Becalli, Mylene Murad, et al.Molecular Genetics and Metabolism|May 20, 2019
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuriaAnia C Muntau, Darius J Adams, Amaya Bélanger-Quintana, et al.Journal of Inherited Metabolic Disease|November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiencyCurtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.Pageof 1