Publication Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.
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 Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
Publication Methylation of the LEP gene promoter in blood at 12 months and BMI at 4 years of age-a population-based cohort study.
