P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysisErica Schindewolf, Ramakrishnan Rajagopalan, Gonench Kilich et al.|Genetics in Medicine Open|2025Cited by 0
P488: Research re-analysis of raw genomic data leads to the first described inherited case of CLDN5 in two brothersErica Schindewolf, Rebecca Ganetzky, Kathleen Sullivan et al.|Genetics in Medicine Open|2025Cited by 0
P487: Expanding the phenotype: A novel case of VPS45 deficiency with HLH and progressive neurological involvementErica Schindewolf, Kathleen Sullivan, Gonench Kilich et al.|Genetics in Medicine Open|2025Cited by 0
P398: An unusual cause of hexokinase 1 deficiencyGonench Kilich, Kathleen Sullivan, Anna Raper et al.|Genetics in Medicine Open|2025Cited by 0
VPS45 Deficiency with Features of Hemophagocytic Lymphohistiocytosis and Progressive Neurologic InvolvementGonench Kilich, Kathleen Sullivan, Rebecca Ganetzky et al.|Journal of Human Immunity|2025Cited by 0