Kagami Ogata syndrome: a small deletion refines critical region for imprintingGonench Kilich, Kathleen E. Sullivan, Kelly Hassey et al.|npj Genomic Medicine|2024Cited by 6
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viabilityDebdeep Dutta, Kelly Hassey, Shinya Yamamoto et al.|Proceedings of the National Academy of Sciences|2024Cited by 6
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalitiesMatthew J. Moulton, Kosuke Izumi, Kristhen N Atala et al.|Genetics in Medicine|2024Cited by 4
Pitfalls of genetic testing in a patient with IKBKG deficiencyGonench Kilich, Kathleen E. Sullivan, Srushti Patel et al.|Annals of Allergy Asthma & Immunology|2024Cited by 0
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