Kagami Ogata syndrome: a small deletion refines critical region for imprintingGonench Kilich, Kathleen E. Sullivan, Zhe Zhang et al.|npj Genomic Medicine|2024Cited by 6
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
P398: An unusual cause of hexokinase 1 deficiencyGonench Kilich, Kathleen Sullivan, Anna Raper et al.|Genetics in Medicine Open|2025Cited by 0
Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 MutationsGonench Kilich, Kathleen E. Sullivan, Rebecca Ganetzky et al.|Journal of Human Immunity|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